| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs206076 |
G>A,C,T |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity, not-provided |
Coding sequence variant, synonymous variant |
| rs766173 |
A>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Coding sequence variant, missense variant |
| rs1799956 |
A>G |
Uncertain-significance, pathogenic |
Coding sequence variant, synonymous variant |
| rs4987049 |
C>A,G,T |
Likely-benign, pathogenic, benign-likely-benign, benign |
Coding sequence variant, synonymous variant, stop gained |
| rs11571587 |
CAA>- |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign |
Coding sequence variant, inframe deletion |
| rs11571640 |
A>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs11571657 |
T>G |
Pathogenic, benign-likely-benign, benign, likely-benign |
Missense variant, coding sequence variant |
| rs11571658 |
TT>- |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs11571747 |
A>C,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs11571769 |
G>A,T |
Benign-likely-benign, benign, risk-factor, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs11571833 |
A>T |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic |
Stop gained, coding sequence variant |
| rs28897701 |
G>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign |
Missense variant, coding sequence variant |
| rs28897705 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance, likely-benign |
Missense variant, coding sequence variant, synonymous variant |
| rs28897706 |
C>A,G,T |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant, synonymous variant |
| rs28897708 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign |
Missense variant, coding sequence variant |
| rs28897712 |
C>A,G,T |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs28897716 |
G>A,C,T |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs28897717 |
A>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs28897718 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance |
Missense variant, coding sequence variant |
| rs28897723 |
A>G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs28897728 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign |
Missense variant, coding sequence variant |
| rs28897731 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs28897735 |
T>A,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs28897739 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs28897742 |
T>A,C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant, synonymous variant |
| rs28897743 |
G>A,C,T |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
| rs28897744 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign |
Missense variant, coding sequence variant |
| rs28897745 |
A>G |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs28897746 |
T>C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs28897747 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign |
Missense variant, coding sequence variant |
| rs28897749 |
G>A,C |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs28897751 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs28897754 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign |
Missense variant, coding sequence variant, synonymous variant |
| rs28897755 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign |
Missense variant, coding sequence variant |
| rs28897756 |
G>A,C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, synonymous variant |
| rs28897758 |
T>A,C,G |
Pathogenic, likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs28897759 |
A>G,T |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
| rs28897760 |
C>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs28897761 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, stop gained, coding sequence variant |
| rs34575057 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs35029074 |
G>A,T |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs35335654 |
A>G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign |
Missense variant, coding sequence variant |
| rs41293473 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign |
Coding sequence variant, synonymous variant |
| rs41293475 |
C>G,T |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs41293477 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs41293479 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs41293489 |
C>A,G,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, coding sequence variant |
| rs41293497 |
C>A,G,T |
Pathogenic, likely-benign |
Stop gained, coding sequence variant, synonymous variant |
| rs41293499 |
G>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs41293509 |
G>A,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, coding sequence variant |
| rs41293511 |
G>A,C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
| rs41293513 |
A>C,G,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs41293517 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs41293521 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign |
Missense variant, coding sequence variant |
| rs45520945 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance, likely-benign |
Coding sequence variant, synonymous variant |
| rs45580035 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
| rs45619134 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign |
Coding sequence variant, synonymous variant |
| rs55639415 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign |
Missense variant, coding sequence variant |
| rs55689095 |
A>C,G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs55712212 |
G>A,T |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs55716624 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance |
Missense variant, coding sequence variant |
| rs55730620 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs55763607 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, coding sequence variant |
| rs55773834 |
C>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs55833327 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs55835607 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs55847618 |
A>G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs55853199 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
| rs55854959 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign |
Missense variant, coding sequence variant |
| rs55875643 |
C>G,T |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs55924966 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs55939572 |
A>C,G |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs55968715 |
A>G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign |
Missense variant, coding sequence variant |
| rs55972907 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs55996097 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, pathogenic, likely-benign |
Missense variant, stop gained, coding sequence variant |
| rs56016241 |
A>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Missense variant, coding sequence variant |
| rs56019712 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs56087561 |
A>C |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs56091799 |
C>A,G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs56121817 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Missense variant, coding sequence variant |
| rs56137239 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs56157628 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign |
Missense variant, coding sequence variant |
| rs56172926 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign |
Missense variant, coding sequence variant |
| rs56179254 |
G>A |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs56191579 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs56204128 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs56242644 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs56249050 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs56253082 |
G>A,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, coding sequence variant |
| rs56328701 |
G>A,C |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs56331088 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant, synonymous variant |
| rs56335340 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs56383036 |
G>C,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, coding sequence variant |
| rs56386506 |
T>G |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs56400215 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs56403624 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, benign |
Missense variant, coding sequence variant |
| rs59004709 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, benign |
Missense variant, coding sequence variant |
| rs61757642 |
A>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Intron variant |
| rs68071147 |
A>C,G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
| rs74047012 |
C>A,G,T |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs75096777 |
AA>-,A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs76584943 |
A>G |
Benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs76635144 |
A>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs79597821 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs79728106 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358388 |
C>G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358389 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358390 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358391 |
G>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358395 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358396 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358398 |
G>A |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358401 |
A>G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358402 |
A>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Stop gained, coding sequence variant |
| rs80358403 |
G>A,C,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358405 |
A>G |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358407 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358409 |
C>G,T |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358410 |
T>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358411 |
A>C,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358413 |
C>A,G |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs80358416 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358417 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358419 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358421 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358422 |
C>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358423 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358425 |
C>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358427 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358428 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358429 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358431 |
C>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358434 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358435 |
G>C,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358438 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358439 |
A>G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358442 |
G>C,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358443 |
A>G,T |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358447 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358452 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358455 |
G>C,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358456 |
G>A,C |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358459 |
T>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358461 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358463 |
A>G,T |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358464 |
T>A,C,G |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs80358467 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
| rs80358468 |
T>C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358469 |
C>A,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358471 |
A>C,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358472 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358474 |
C>A,G,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358476 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358477 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
| rs80358485 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358489 |
C>A,G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
| rs80358494 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358498 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358500 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358502 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358503 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358504 |
T>C,G |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs80358507 |
T>A,C,G |
Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358511 |
A>G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358515 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358516 |
C>A,T |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs80358518 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358521 |
T>A |
Uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358523 |
C>G,T |
Uncertain-significance, likely-benign, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358528 |
A>G |
Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358529 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358530 |
A>T |
Conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant |
| rs80358531 |
C>G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358532 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358533 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358538 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358541 |
A>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
| rs80358543 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358544 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358545 |
T>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
| rs80358546 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358548 |
C>G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358550 |
A>G,T |
Benign-likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity |
Stop gained, missense variant, coding sequence variant |
| rs80358552 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358554 |
T>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358556 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358557 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358561 |
T>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358564 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358566 |
A>G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358567 |
A>C |
Conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant |
| rs80358570 |
A>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358571 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358572 |
C>G,T |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358573 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358575 |
A>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358578 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358579 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358587 |
T>G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358589 |
A>G |
Benign-likely-benign, benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358591 |
A>C,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358592 |
C>G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358593 |
T>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358594 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358595 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358599 |
C>T |
Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358600 |
C>A,G,T |
Uncertain-significance, likely-benign, benign, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358604 |
C>T |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
| rs80358605 |
G>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358606 |
T>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
| rs80358611 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358615 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358618 |
A>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358620 |
C>A,G,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358621 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358623 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358624 |
A>G |
Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358631 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358632 |
T>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358638 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358641 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358644 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358648 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358652 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358658 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358659 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358663 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358664 |
C>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant |
| rs80358665 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358667 |
C>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358670 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358678 |
G>C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358683 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358685 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358691 |
C>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358692 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358694 |
A>C |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358695 |
G>C,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358698 |
C>G,T |
Uncertain-significance, benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358699 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358701 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358702 |
G>A,C |
Uncertain-significance, likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs80358705 |
G>A |
Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358710 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358711 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358715 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358717 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358719 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358721 |
C>A,G,R |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358726 |
C>A,G |
Benign-likely-benign, uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358730 |
A>G |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358735 |
G>C,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358740 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358743 |
T>C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358746 |
T>A,C |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs80358747 |
G>A |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358751 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358754 |
T>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358755 |
G>A,C,T |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Missense variant, coding sequence variant |
| rs80358757 |
C>A,G,T |
Uncertain-significance, likely-benign, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358759 |
A>G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358760 |
C>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358763 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358765 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358766 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358767 |
G>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358770 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358774 |
T>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358776 |
T>G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign |
Missense variant, coding sequence variant |
| rs80358778 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358782 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358783 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358784 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign |
Missense variant, synonymous variant, coding sequence variant |
| rs80358785 |
C>A,G |
Risk-factor, pathogenic |
Stop gained, coding sequence variant |
| rs80358789 |
C>A,T |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs80358790 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358791 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358796 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358799 |
T>C,G |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358803 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant |
| rs80358804 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
| rs80358805 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358806 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358807 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358809 |
G>A,C |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358810 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358811 |
T>C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358814 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358815 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358817 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358820 |
G>A,T |
Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358822 |
C>T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358823 |
A>G,T |
Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358824 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358825 |
T>A,C,G |
Uncertain-significance, likely-benign, pathogenic |
Stop gained, missense variant, synonymous variant, coding sequence variant |
| rs80358828 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358830 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358831 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358833 |
G>A,T |
Benign-likely-benign, uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358838 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358840 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358842 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358843 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358844 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358849 |
G>A |
Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358851 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358852 |
A>C,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant |
| rs80358853 |
A>C,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
| rs80358856 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358857 |
T>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358859 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358863 |
A>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358864 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358866 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
| rs80358867 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358870 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358871 |
G>A,C |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs80358875 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358880 |
C>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358881 |
C>A,G,T |
Uncertain-significance, benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358882 |
A>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358883 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358884 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358887 |
C>G,T |
Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity |
Stop gained, missense variant, coding sequence variant |
| rs80358888 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358889 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358891 |
T>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
| rs80358892 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358893 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358896 |
A>G |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358901 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358906 |
G>A |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358911 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358912 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358913 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358914 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358915 |
G>A,C,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358916 |
A>G,T |
Uncertain-significance, benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358918 |
A>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358920 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358921 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign |
Missense variant, coding sequence variant |
| rs80358923 |
T>A,C |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358925 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358927 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358928 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358930 |
G>A,C,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358935 |
G>A,C |
Uncertain-significance, benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358936 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358940 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358943 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358946 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358950 |
A>C |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant |
| rs80358951 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358955 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
| rs80358957 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358959 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358961 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358967 |
G>A |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358968 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358971 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358972 |
C>A,T |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs80358974 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358976 |
G>A,C |
Uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358978 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, benign |
Missense variant, coding sequence variant |
| rs80358979 |
T>C |
Uncertain-significance, likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs80358980 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant |
| rs80358981 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80358982 |
G>A,C,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358985 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
| rs80358989 |
C>A,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80358993 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358994 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358997 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358998 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80358999 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359002 |
G>A |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
| rs80359003 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359004 |
G>A,C |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359009 |
G>A,C,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
| rs80359011 |
G>A,C |
Uncertain-significance, likely-pathogenic, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359012 |
A>G |
Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359013 |
G>A,C |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359014 |
A>G,T |
Uncertain-significance, pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs80359015 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359016 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359021 |
T>C |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359022 |
T>C,G |
Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs80359024 |
A>G |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359025 |
C>A,G,T |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs80359026 |
A>G |
Uncertain-significance, likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs80359027 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
| rs80359029 |
T>G |
Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359030 |
G>A,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359031 |
A>T |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs80359032 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359034 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359035 |
C>A,G,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359037 |
A>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359038 |
T>C |
Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359041 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359044 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
| rs80359045 |
T>C |
Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359046 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359048 |
C>G,T |
Uncertain-significance, likely-pathogenic, likely-benign, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359050 |
T>A,G |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359051 |
G>A |
Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359052 |
G>A |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359054 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359055 |
A>G |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359056 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359058 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359061 |
T>A,C,G |
Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359062 |
C>A,G,T |
Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs80359064 |
A>G |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
| rs80359065 |
G>A,T |
Benign, likely-benign, pathogenic |
Missense variant, synonymous variant, coding sequence variant |
| rs80359066 |
G>C,T |
Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359068 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359069 |
G>A,C,T |
Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359070 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359071 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs80359075 |
C>A,T |
Uncertain-significance, likely-pathogenic, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
| rs80359076 |
G>A,T |
Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359077 |
G>A,C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359078 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359080 |
G>A,C,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359082 |
G>A,T |
Uncertain-significance, pathogenic-likely-pathogenic, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359083 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359088 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359089 |
A>C,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359090 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359091 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359099 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359100 |
A>G,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs80359101 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359102 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359104 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359110 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359112 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359115 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359118 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359121 |
G>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359122 |
C>T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359127 |
C>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
| rs80359128 |
G>A,T |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359129 |
G>A,T |
Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359130 |
C>A,G,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
| rs80359131 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359132 |
A>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant |
| rs80359133 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359134 |
C>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359140 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359141 |
G>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359142 |
T>A,G |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359143 |
G>A,C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359144 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359146 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359148 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359149 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359150 |
G>A,C |
Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359151 |
T>A,C,G |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359152 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
| rs80359153 |
A>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359154 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359156 |
C>A,G |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs80359158 |
C>A,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359159 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359161 |
G>C,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
| rs80359163 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359165 |
A>C,G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359169 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359170 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359171 |
G>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359174 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
| rs80359175 |
T>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359177 |
G>A,T |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359180 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359183 |
T>A,C |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs80359187 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
| rs80359189 |
T>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359190 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359192 |
G>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359194 |
G>A |
Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359195 |
A>C,G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359197 |
T>C,G |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs80359198 |
C>A,G,T |
Uncertain-significance, pathogenic-likely-pathogenic, likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
| rs80359199 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359200 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359205 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359207 |
T>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359209 |
T>A,C,G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs80359210 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359211 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359212 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359214 |
G>A,C,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359218 |
G>A,T |
Pathogenic, likely-benign, conflicting-interpretations-of-pathogenicity |
Stop gained, missense variant, coding sequence variant |
| rs80359220 |
G>A,C,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359221 |
C>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359222 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359227 |
A>G |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359228 |
A>G |
Uncertain-significance, benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359230 |
C>G |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs80359233 |
C>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359234 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359237 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359239 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359241 |
C>T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359242 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359246 |
C>A,G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359247 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359251 |
G>A,T |
Uncertain-significance, likely-pathogenic, likely-benign, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs80359254 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359256 |
A>C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs80359258 |
A>- |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Frameshift variant, coding sequence variant |
| rs80359259 |
TCTA>- |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Terminator codon variant, frameshift variant |
| rs80359260 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359261 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359262 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359263 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359264 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359265 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359266 |
->TTAG |
Pathogenic |
Stop gained, inframe indel, coding sequence variant |
| rs80359267 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359268 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359269 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359270 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359271 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359272 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359273 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359274 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359275 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359276 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359277 |
AAGAAAGA>-,AAGA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359278 |
AA>-,A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359281 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359282 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359283 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359284 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359285 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359286 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359287 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359288 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359289 |
TT>-,T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359291 |
AAACT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359292 |
AA>-,A |
Not-provided, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359293 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359294 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359295 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359296 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359297 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359299 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359300 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359301 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359302 |
GAAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359303 |
AATAA>-,A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359304 |
TTAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359306 |
A>-,AA |
Pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359310 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359311 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359312 |
->T,TT |
Likely-pathogenic, pathogenic |
Stop gained, frameshift variant, coding sequence variant |
| rs80359313 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359314 |
->A,AA,GA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359315 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359316 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359317 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359318 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359319 |
TCTC>-,TC |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359320 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359321 |
GGAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359322 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359323 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359324 |
TATT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359325 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359326 |
GACT>- |
Uncertain-significance, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359327 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359328 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359329 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359330 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359331 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359332 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359333 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359334 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359335 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359336 |
AAATCAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359339 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359340 |
GACA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359341 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359342 |
C>- |
Not-provided, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359344 |
G>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359345 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359346 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359347 |
T>-,TT |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359348 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359349 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359350 |
TAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359351 |
ACAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359353 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359354 |
GCAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359355 |
->TT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359356 |
AAA>-,A,AA,AAAA |
Pathogenic |
Inframe deletion, frameshift variant, coding sequence variant |
| rs80359357 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359358 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359359 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359360 |
GAG>- |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Inframe deletion, coding sequence variant |
| rs80359361 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359364 |
TGAATATAGAT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359365 |
AAAA>-,AAA,AAAAA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359367 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359368 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359369 |
AACAT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359370 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359371 |
GATA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359372 |
AAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359373 |
AGAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359374 |
GTCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359375 |
TAAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359377 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359378 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359379 |
CC>-,C,CCC |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359380 |
->T,TT |
Not-provided, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359381 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359382 |
ATTT>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359383 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359384 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359385 |
->T,TT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359386 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359387 |
TA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359388 |
TT>-,T |
Pathogenic |
Stop gained, frameshift variant, coding sequence variant |
| rs80359389 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359390 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359391 |
GT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359394 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359395 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359396 |
AATG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359397 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359398 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359401 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359402 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359403 |
TGAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359404 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359405 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359406 |
AAAA>-,A,AA,AAA,AAAAA |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, pathogenic |
Inframe deletion, stop gained, frameshift variant, coding sequence variant |
| rs80359410 |
ATAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359412 |
AAAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359414 |
ACT>- |
Conflicting-interpretations-of-pathogenicity |
Inframe deletion, coding sequence variant |
| rs80359415 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359416 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359417 |
TGAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359419 |
->A,CATC |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359420 |
->CATC |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359421 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359422 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359423 |
CATA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359424 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359425 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359426 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359427 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359428 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359429 |
->NNNNNN,TGAGGA |
Pathogenic |
Inframe insertion, stop gained, coding sequence variant |
| rs80359430 |
CTCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359431 |
GATTA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359432 |
AGA>- |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, benign |
Inframe deletion, coding sequence variant |
| rs80359433 |
TT>-,T,TTT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359434 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359435 |
AGAA>- |
Pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359436 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359437 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359438 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359439 |
T>-,TT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359441 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359442 |
GTT>- |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Inframe deletion, coding sequence variant |
| rs80359443 |
G>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359444 |
ACATT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359446 |
TA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359447 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359448 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359449 |
GTTA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359451 |
CTGA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359452 |
TGAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359453 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359454 |
AAAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359456 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359457 |
AGAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359458 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359459 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359460 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359462 |
T>-,TT |
Pathogenic |
Stop gained, frameshift variant, coding sequence variant |
| rs80359463 |
AGTCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359464 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359465 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359466 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359467 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359468 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359469 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359470 |
AA>-,AAA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359471 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359472 |
AAA>-,AA |
Uncertain-significance, pathogenic |
Inframe deletion, frameshift variant, coding sequence variant |
| rs80359473 |
GAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359474 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359475 |
C>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359476 |
->G |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359477 |
AA>-,A,AAA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359478 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359479 |
AAAA>-,AAA,AAAAA,AAAAAAAAAA |
Uncertain-significance, pathogenic |
Inframe insertion, frameshift variant, coding sequence variant |
| rs80359482 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359484 |
TGTA>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359486 |
TAGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359487 |
ATTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359488 |
TTCAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359489 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359490 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359491 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359492 |
G>- |
Pathogenic |
Splice acceptor variant, coding sequence variant |
| rs80359493 |
CTTA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359494 |
TTTA>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359495 |
TTTAA>- |
Pathogenic |
Stop gained, inframe indel, coding sequence variant |
| rs80359496 |
TTTAAGT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359497 |
TTTAAGTA>- |
Pathogenic |
Stop gained, inframe indel, coding sequence variant |
| rs80359498 |
GTAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359499 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359500 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359501 |
GTAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359502 |
ATAATGATTCAGGATAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359503 |
TC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359505 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359506 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359507 |
AAA>-,A,AA,AAAA,AAAAA |
Uncertain-significance, pathogenic |
Inframe deletion, frameshift variant, coding sequence variant |
| rs80359510 |
AT>-,ATAT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359512 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359513 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359514 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359515 |
AA>-,A,AAA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359516 |
AAATT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359517 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359518 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359519 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359520 |
TTAA>- |
Not-provided, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359522 |
TAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359523 |
TGAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359524 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359525 |
AGTAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359526 |
TTAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359527 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359528 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359529 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359530 |
CTCT>-,CT |
Pathogenic |
Stop gained, frameshift variant, coding sequence variant |
| rs80359532 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359533 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359534 |
T>-,TT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359535 |
TTCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359536 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359537 |
TA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359538 |
CCAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359539 |
GAAAGTTTCTAAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359540 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359541 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359542 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359543 |
AGTT>-,AGTTAGTT |
Not-provided, pathogenic |
Stop gained, frameshift variant, coding sequence variant |
| rs80359545 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359546 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359547 |
AGTC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359548 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359549 |
TGGA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359550 |
T>- |
Risk-factor, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359551 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359552 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359553 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359554 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359555 |
ACCAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359556 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359557 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359558 |
GAAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359559 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359560 |
C>-,CC |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359561 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359562 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359563 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359564 |
TT>-,T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359565 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359566 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359567 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359568 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359569 |
T>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359570 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359571 |
TA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359572 |
TATTCAC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359573 |
TTCACCTA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359574 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359575 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359576 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359577 |
A>-,AA,AAA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359579 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359580 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359581 |
AAA>- |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Inframe deletion, coding sequence variant |
| rs80359583 |
ATAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359584 |
CTTAA>- |
Pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359586 |
TAAAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359587 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359589 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359590 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359591 |
TATT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359592 |
AT>-,ATAT |
Pathogenic |
Stop gained, frameshift variant, coding sequence variant |
| rs80359593 |
TTAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359594 |
AA>-,A,AAA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359596 |
TCTC>-,TC,TCTCTC |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359598 |
ACAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359599 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359600 |
AA>-,AAA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359601 |
->A,NNNNNNNN |
Pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359603 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359604 |
GT>- |
Risk-factor, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359605 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359606 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359607 |
TT>-,T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359608 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359609 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359610 |
TA>-,TATA |
Pathogenic |
Stop gained, frameshift variant, coding sequence variant |
| rs80359611 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359612 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359613 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359614 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359615 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359616 |
ACTC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359617 |
GAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359618 |
GAAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359619 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359620 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359621 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359622 |
ATGCCACACATTC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359623 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359624 |
TT>-,T |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359625 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359626 |
TCTTA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359628 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359629 |
TAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359630 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359631 |
TACCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359632 |
TTTCG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359634 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359635 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359636 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359637 |
TAGGACCAATAAGTCTTAATTGGTTT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359638 |
AA>-,A,AAA |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359639 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359641 |
CCAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359642 |
AA>-,A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359643 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359644 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359645 |
TGAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359646 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359647 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359648 |
ACAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359649 |
CAAAGTGTGA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359650 |
AA>-,A |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359651 |
TG>- |
Pathogenic |
Stop gained, inframe indel, coding sequence variant |
| rs80359652 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359653 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359654 |
G>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359656 |
->A |
Pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359657 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359659 |
ACAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359660 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359661 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359662 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359663 |
CAGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359664 |
CTCT>-,CT |
Pathogenic |
Stop gained, frameshift variant, coding sequence variant |
| rs80359665 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359666 |
->TT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359667 |
CTCTGCGTGTTCTC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359668 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359669 |
TTAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359670 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359671 |
TCAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359672 |
AG>-,AGAG |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359673 |
TT>-,T,TTT |
Not-provided, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359674 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359676 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359677 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359678 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359679 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359681 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359682 |
GAA>- |
Uncertain-significance, pathogenic-likely-pathogenic |
Inframe deletion, coding sequence variant |
| rs80359683 |
->AG |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359684 |
->GACA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359685 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359686 |
TTCCT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359688 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359689 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359690 |
CTATAAAAAAGATAATGGAAAGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359691 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359692 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359693 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359694 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359695 |
T>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs80359696 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359697 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359698 |
CAGACTGACAGTTGG>- |
Uncertain-significance, likely-pathogenic |
Inframe deletion, coding sequence variant |
| rs80359699 |
TGAC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359700 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359701 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359704 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359705 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359706 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359707 |
TAAC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359708 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359709 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359710 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359711 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359712 |
C>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359713 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359714 |
AGAG>-,AG |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359717 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359718 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359719 |
AA>-,A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359720 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359721 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359722 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359723 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359724 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359725 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359726 |
TATG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359727 |
->TTAC |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359728 |
G>- |
Pathogenic |
Splice acceptor variant, coding sequence variant |
| rs80359729 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359730 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359731 |
A>-,AA |
Not-provided, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359732 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359733 |
AA>-,A,AAA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359734 |
GAGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359735 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359736 |
CATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTC>- |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Inframe deletion, coding sequence variant |
| rs80359737 |
TCAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359738 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359739 |
TA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359741 |
ATCAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359742 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359743 |
TA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359744 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359745 |
->AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359746 |
TAACATAC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359747 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359748 |
TC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359750 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359751 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359752 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359753 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359754 |
ATTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359755 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359756 |
AA>-,AAA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359757 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359758 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359759 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359760 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359761 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359762 |
TT>-,T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359763 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359764 |
AG>-,AGAG |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359766 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359767 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359769 |
ACTT>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359770 |
A>-,AA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359771 |
CC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359772 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359773 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359774 |
T>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359775 |
TATG>- |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359776 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80359777 |
AA>-,A,AAA,AAAA |
Not-provided, pathogenic |
Frameshift variant, coding sequence variant |
| rs80359785 |
A>G |
Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs80359788 |
C>G,T |
Uncertain-significance, benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
| rs80359790 |
G>A,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Missense variant, synonymous variant, coding sequence variant |
| rs80359791 |
C>A,T |
Benign-likely-benign, benign, likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs80359800 |
T>A,C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
| rs80359803 |
G>A |
Likely-pathogenic, pathogenic |
Synonymous variant, coding sequence variant |
| rs80359808 |
G>A,C |
Uncertain-significance, pathogenic |
Missense variant, synonymous variant, coding sequence variant |
| rs80359810 |
T>C |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Synonymous variant, coding sequence variant |
| rs81002792 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs81002795 |
A>G,T |
Uncertain-significance, pathogenic |
Intron variant |
| rs81002797 |
G>A,T |
Pathogenic-likely-pathogenic, pathogenic |
Splice donor variant |
| rs81002798 |
G>A,T |
Not-provided, pathogenic |
Splice donor variant |
| rs81002802 |
G>A,T |
Pathogenic |
Splice donor variant |
| rs81002803 |
T>C,G |
Uncertain-significance, benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs81002804 |
C>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Intron variant |
| rs81002805 |
T>C,G |
Pathogenic |
Splice donor variant |
| rs81002806 |
A>G |
Uncertain-significance, likely-pathogenic |
Intron variant |
| rs81002809 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Splice donor variant |
| rs81002810 |
A>C |
Uncertain-significance, pathogenic |
Intron variant |
| rs81002811 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Intron variant |
| rs81002812 |
G>A,C,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs81002813 |
G>A,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Intron variant |
| rs81002815 |
T>C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs81002816 |
G>A,C |
Uncertain-significance, likely-pathogenic |
Intron variant |
| rs81002820 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs81002823 |
A>G,T |
Pathogenic-likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs81002824 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs81002827 |
G>A |
Benign-likely-benign, uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs81002828 |
T>C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs81002830 |
T>A |
Benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs81002831 |
G>C,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs81002835 |
T>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs81002836 |
A>G,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs81002837 |
G>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs81002838 |
G>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs81002840 |
G>A,C |
Likely-pathogenic, pathogenic-likely-pathogenic, not-provided, pathogenic |
Intron variant |
| rs81002843 |
T>G |
Pathogenic |
Splice donor variant |
| rs81002844 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Intron variant |
| rs81002846 |
G>A,C,T |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Splice donor variant |
| rs81002847 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs81002849 |
G>A,T |
Pathogenic |
Splice acceptor variant |
| rs81002852 |
G>A |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Intron variant |
| rs81002853 |
A>C,G |
Pathogenic |
Splice acceptor variant |
| rs81002858 |
A>C,G |
Uncertain-significance, pathogenic-likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs81002860 |
G>A,T |
Pathogenic |
Splice acceptor variant |
| rs81002862 |
A>C,G,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs81002863 |
A>C,G |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs81002868 |
A>C |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs81002873 |
G>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs81002874 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs81002882 |
G>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs81002883 |
G>A,C |
Pathogenic-likely-pathogenic, pathogenic |
Splice donor variant |
| rs81002886 |
A>G,T |
Pathogenic |
Splice acceptor variant |
| rs81002889 |
G>A,C |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs81002893 |
A>G,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Intron variant |
| rs81002895 |
A>G |
Pathogenic |
Splice acceptor variant |
| rs81002897 |
G>A,C |
Pathogenic-likely-pathogenic, pathogenic |
Splice donor variant |
| rs81002899 |
T>A,C,G |
Pathogenic-likely-pathogenic, not-provided, pathogenic |
Splice donor variant |
| rs81002904 |
A>G,T |
Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs117187202 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs120074205 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs138489917 |
C>A,G |
Uncertain-significance, likely-benign, not-provided, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs138734772 |
G>A,C,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs139052578 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs140782158 |
C>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, synonymous variant, coding sequence variant |
| rs142040996 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs143999963 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant, synonymous variant |
| rs145988146 |
C>A,G,T |
Likely-benign, pathogenic |
Stop gained, coding sequence variant, synonymous variant |
| rs146120136 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, likely-benign |
Missense variant, coding sequence variant |
| rs146430937 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign |
Coding sequence variant, synonymous variant |
| rs148607710 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign |
Coding sequence variant, synonymous variant |
| rs149330893 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs149769332 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant |
| rs180670511 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs183920365 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs191253965 |
T>G |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Intron variant |
| rs200078639 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs200265692 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs201172050 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
| rs201523522 |
C>A,G,T |
Likely-benign, uncertain-significance, pathogenic |
Stop gained, coding sequence variant, synonymous variant |
| rs202155613 |
C>A,G,T |
Pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Stop gained, coding sequence variant, missense variant |
| rs202230438 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs276174803 |
C>GAATTATATCT,NNNNNNNNNNN |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, frameshift variant |
| rs276174811 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs276174813 |
CTTAT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs276174815 |
C>AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174816 |
TT>-,T,TTT,TTTT |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Intron variant |
| rs276174818 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs276174819 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174822 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174823 |
TAAATG>- |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs276174824 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174825 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174826 |
CT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs276174831 |
TC>AT |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Coding sequence variant, missense variant |
| rs276174833 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174837 |
TAA>- |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, inframe deletion |
| rs276174838 |
C>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs276174839 |
->GG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174841 |
CTGTTTG>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, inframe indel |
| rs276174842 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174843 |
CT>A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174844 |
GTTTT>- |
Uncertain-significance, likely-pathogenic |
Intron variant |
| rs276174846 |
ATTAGC>G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174847 |
->TG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174848 |
T>- |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Intron variant |
| rs276174849 |
T>-,TT |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Intron variant |
| rs276174851 |
AAT>- |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, inframe deletion |
| rs276174852 |
GC>AAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174853 |
AATA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174854 |
TATG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174857 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174859 |
TC>AG |
Pathogenic |
Stop gained, coding sequence variant |
| rs276174860 |
AAAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174861 |
->CC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174864 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174865 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174866 |
AAAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174867 |
CAC>AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174868 |
GCA>C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174871 |
GT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs276174872 |
->TA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174873 |
C>T |
Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs276174874 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174875 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174876 |
G>A,C,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs276174879 |
TA>- |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Intron variant |
| rs276174888 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
| rs276174889 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs276174890 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174896 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs276174897 |
GAATTT>AG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174899 |
A>G,T |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs276174900 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs276174901 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174902 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs276174903 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174904 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174907 |
TAG>AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174910 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174912 |
A>CT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174913 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs276174914 |
AACAGTTGT>GATACTTCAG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174915 |
ATTCAGGTAAG>- |
Pathogenic, likely-pathogenic |
Splice donor variant, coding sequence variant, intron variant |
| rs276174916 |
GTT>AA |
Pathogenic |
Splice acceptor variant, coding sequence variant |
| rs276174918 |
AACA>TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs276174919 |
T>-,TT,TTT |
Benign-likely-benign, likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs276174925 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs276174926 |
GC>CT |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs276174927 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, synonymous variant, missense variant |
| rs276174929 |
T>-,TT |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant |
| rs276174931 |
->A,G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs367823201 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, synonymous variant, missense variant |
| rs370591460 |
T>A,C |
Likely-benign, pathogenic |
Stop gained, coding sequence variant, synonymous variant |
| rs371067421 |
G>A,C,T |
Pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Stop gained, coding sequence variant, missense variant |
| rs371417084 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs371454630 |
A>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
| rs372527810 |
T>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
| rs373400041 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
| rs374691587 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs374769365 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs375064902 |
T>A,G |
Pathogenic-likely-pathogenic, uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs376338226 |
G>A,T |
Pathogenic, uncertain-significance, likely-benign |
Stop gained, coding sequence variant, missense variant |
| rs377471435 |
T>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs377698594 |
C>A,G,T |
Not-provided, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs387907575 |
G>T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
| rs397507262 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507263 |
C>A,T |
Benign-likely-benign, likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs397507265 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507266 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507272 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507275 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507276 |
A>G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
| rs397507278 |
C>A,G |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
| rs397507279 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507282 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507284 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507285 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507286 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507290 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507291 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507296 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507300 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507303 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs397507304 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507305 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507317 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507318 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507320 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507321 |
G>-,GGG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507322 |
AAACG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507323 |
GAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507325 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507327 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507328 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507331 |
GACAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507332 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507333 |
AGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507334 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507340 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs397507344 |
GAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507346 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507349 |
TAG>- |
Uncertain-significance, pathogenic |
Coding sequence variant, inframe deletion |
| rs397507351 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507353 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507355 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507356 |
ACAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507357 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507362 |
AAGATAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507366 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs397507369 |
GAGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507371 |
ATAATCAC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507373 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507375 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507383 |
CTTGAT>AG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507384 |
C>T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
| rs397507385 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507386 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507387 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507389 |
G>A,C |
Not-provided, pathogenic |
Splice acceptor variant |
| rs397507395 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507396 |
CC>-,C,CCC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507400 |
GTAAA>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507402 |
TAT>C,T |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507404 |
G>A,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs397507406 |
GAAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507407 |
T>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant |
| rs397507409 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507410 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507411 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507412 |
T>G |
Pathogenic |
Splice donor variant |
| rs397507413 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant |
| rs397507418 |
->T,TT |
Pathogenic |
Stop gained, coding sequence variant, frameshift variant |
| rs397507419 |
AAAA>-,AA,AAA,AAAAA |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507422 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507423 |
A>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, missense variant |
| rs397507424 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507430 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507432 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, missense variant |
| rs397507435 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs397507437 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507568 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Stop gained, coding sequence variant, missense variant |
| rs397507569 |
A>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507570 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507572 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507573 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507574 |
CTGTG>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507575 |
G>T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507576 |
T>A |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507577 |
AAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507578 |
AA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507579 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507580 |
TTTG>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507581 |
G>T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507583 |
GA>-,GAGA |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs397507584 |
A>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507586 |
GA>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507587 |
G>T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507588 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507589 |
AGT>TTAC,TTCC |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507591 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507592 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507593 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507594 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507597 |
AG>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507598 |
T>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507599 |
AGGA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507600 |
TAATTGATAATGGA>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507601 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507602 |
TCTGT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507603 |
G>A,T |
Not-provided, uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507604 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507605 |
T>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507606 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507607 |
TTATA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507608 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507610 |
->A |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507611 |
C>-,CC |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507612 |
A>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507613 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507614 |
C>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507616 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507617 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507618 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507619 |
A>TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507621 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507624 |
C>A |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507625 |
ACAATTATGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507627 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507628 |
A>C,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507629 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507630 |
A>-,AA |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507631 |
T>C,G |
Not-provided, uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507632 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507633 |
GAAA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507634 |
C>A,G |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
| rs397507635 |
C>TTT |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507636 |
TG>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507637 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507638 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507639 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507640 |
->T |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507641 |
CT>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507643 |
TTAA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507644 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507645 |
A>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs397507646 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507647 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507648 |
G>T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507649 |
T>A,G |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507650 |
->TT |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507651 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507652 |
A>C,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507654 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507655 |
AGATATTGAAGAACA>T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507656 |
A>- |
Not-provided, pathogenic |
Intron variant |
| rs397507657 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507658 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507659 |
GTAGT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507660 |
T>-,TT |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507661 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507662 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507663 |
C>A,G,T |
Not-provided, uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507664 |
TTAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507665 |
AA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507666 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507667 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507668 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507669 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507670 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507671 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507672 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507673 |
CAGC>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507675 |
CAGTTGAAAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507676 |
GTTGAAATTA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507677 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507678 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507679 |
GT>TAAAAAG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507680 |
A>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507681 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507682 |
TAG>AT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507683 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507684 |
A>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507685 |
TA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507686 |
TT>-,T,TTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507688 |
TAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507689 |
AA>-,A |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507690 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507691 |
G>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507692 |
AAGT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507693 |
->A |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507694 |
AA>-,AAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507695 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507698 |
TT>-,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs397507699 |
C>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507700 |
TTACAAGAGAAATACTGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507701 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507702 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507703 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507704 |
->CATC |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507705 |
A>-,AA |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507707 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507708 |
->A |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507710 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507711 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507712 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507713 |
G>A,T |
Uncertain-significance, pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs397507715 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507716 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507717 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507718 |
TAAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507719 |
T>C,G |
Pathogenic, likely-benign |
Stop gained, coding sequence variant, synonymous variant |
| rs397507720 |
CA>- |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507723 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507724 |
->TGAT |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507725 |
A>-,AA |
Not-provided, pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs397507727 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507728 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507731 |
AA>-,A,AAA |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507734 |
AGAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507735 |
GAGAT>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507737 |
C>T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507738 |
->GACC |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507739 |
AA>- |
Not-provided, pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs397507740 |
A>-,AA |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507741 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507742 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507744 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507746 |
AA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507747 |
GT>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507748 |
AG>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs397507749 |
A>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507750 |
TGTAGAAAAA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507751 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507752 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507753 |
GTCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507754 |
->T |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507755 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507756 |
G>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507757 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507758 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507759 |
AAATA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507760 |
G>- |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507762 |
G>A,C,T |
Pathogenic |
Splice donor variant |
| rs397507763 |
G>-,GG |
Not-provided, pathogenic |
Splice donor variant, coding sequence variant |
| rs397507764 |
T>A,C,G |
Pathogenic |
Splice donor variant |
| rs397507765 |
->AGTAC |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507767 |
T>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507768 |
G>C,T |
Pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
| rs397507771 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507773 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507774 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507776 |
C>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507777 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507778 |
C>G |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507779 |
AA>T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507780 |
AC>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507781 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507782 |
G>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507783 |
GC>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507784 |
GGAA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507785 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507787 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507788 |
GAAAC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507789 |
AAAAG>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507790 |
AAAA>-,AAA,AAAAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507791 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507792 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507793 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507794 |
ATTTGCCAAA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507796 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507797 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507799 |
A>CT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507800 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507801 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507802 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507803 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507804 |
AGAG>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507805 |
T>A,C,G |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507806 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507807 |
CC>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507808 |
TA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507809 |
->ATCACCTTG |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507811 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507812 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507813 |
TGGAA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507814 |
AA>-,AAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507816 |
->GCTAC |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507817 |
AT>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507818 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507819 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507823 |
TT>-,T,TTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507824 |
->GT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507825 |
ACAT>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507826 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507827 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507828 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507829 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507830 |
->CTTA |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs397507831 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507833 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507834 |
T>-,TT |
Not-provided, pathogenic |
Stop gained, coding sequence variant, frameshift variant |
| rs397507835 |
G>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507836 |
CA>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507837 |
T>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507839 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507840 |
A>G,T |
Uncertain-significance, pathogenic |
Intron variant |
| rs397507841 |
A>G |
Pathogenic-likely-pathogenic |
Intron variant |
| rs397507842 |
A>C,G |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs397507844 |
TAAACTCAGAAATG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507845 |
C>G,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507846 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Coding sequence variant, missense variant |
| rs397507848 |
->T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507849 |
ATTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507850 |
TT>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507851 |
AAATGTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507852 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507853 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507854 |
C>- |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507855 |
ATCA>-,ATCAATCA |
Not-provided, pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs397507856 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507857 |
TA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507858 |
->TA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507859 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507860 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507861 |
CAG>GACT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507862 |
AGTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507863 |
AGTTG>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507864 |
A>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507865 |
TCAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507866 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507867 |
C>A,G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507868 |
AA>-,A,AAA |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507870 |
AGAAGTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507871 |
TGTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507872 |
GT>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507874 |
->G |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507875 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs397507876 |
A>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507877 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507879 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507880 |
ACTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507884 |
A>G,T |
Uncertain-significance, pathogenic |
Intron variant |
| rs397507885 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507886 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507887 |
G>- |
Pathogenic |
Splice donor variant, coding sequence variant |
| rs397507888 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507889 |
T>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507890 |
TTCGGT>- |
Pathogenic |
Splice donor variant, coding sequence variant |
| rs397507891 |
G>A,C,T |
Pathogenic |
Splice donor variant |
| rs397507892 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507893 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507894 |
TT>-,TTT |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507895 |
->ATTTGTATGAACATCTGAC |
Not-provided, pathogenic |
Stop gained, coding sequence variant, inframe insertion |
| rs397507896 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507898 |
G>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507899 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507900 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507901 |
->T |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507902 |
T>A,G |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507903 |
T>-,TTTTTTTT |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, frameshift variant |
| rs397507904 |
AAAGTCT>TG,TGTAG |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507905 |
ACCT>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507906 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507907 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507908 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507910 |
C>G,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507911 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507912 |
C>G,T |
Not-provided, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507913 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507914 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507915 |
TT>-,TTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507917 |
A>G,T |
Pathogenic |
Splice acceptor variant |
| rs397507918 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507919 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507920 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507921 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507922 |
G>A,C,T |
Pathogenic |
Splice donor variant |
| rs397507924 |
T>A,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs397507927 |
TCTAAACATT>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507928 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507930 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507933 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507934 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507935 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507936 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507937 |
A>T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507938 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
| rs397507939 |
T>G |
Uncertain-significance, pathogenic |
Intron variant |
| rs397507940 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507941 |
G>A,C |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507942 |
TA>- |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs397507943 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507944 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507945 |
C>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507946 |
AA>- |
Pathogenic |
Intron variant |
| rs397507947 |
A>- |
Pathogenic |
Splice acceptor variant |
| rs397507949 |
T>A,C,G |
Likely-benign, pathogenic |
Stop gained, coding sequence variant, synonymous variant |
| rs397507950 |
TGATA>- |
Pathogenic |
Splice acceptor variant, coding sequence variant |
| rs397507951 |
->AGAAGAT |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507952 |
AA>-,A,AAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507954 |
A>G |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs397507955 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507956 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507957 |
->GCAAAAAC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507958 |
A>-,AA,AAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507961 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507962 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507963 |
CT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507964 |
->GTGG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507965 |
G>A |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507966 |
C>G,T |
Not-provided, uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507967 |
T>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507969 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507972 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507973 |
->AC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507975 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507976 |
TCTCTTATGTTAAA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507977 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507978 |
AG>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507979 |
G>A,C,T |
Not-provided, pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs397507980 |
->C |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507981 |
G>A,C |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507985 |
->A |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507987 |
T>A,C |
Likely-benign, pathogenic |
Stop gained, coding sequence variant, synonymous variant |
| rs397507988 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507989 |
A>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507990 |
AA>-,AAA |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397507991 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397507992 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
| rs397507995 |
->T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397507996 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397507997 |
G>A,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs397508000 |
A>T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397508001 |
ACCA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397508002 |
C>T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397508003 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508004 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508006 |
G>A,T |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Splice donor variant |
| rs397508007 |
G>A,C,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Intron variant |
| rs397508009 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397508010 |
GAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508011 |
ACAA>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397508012 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397508013 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508014 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508015 |
AAGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508016 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, missense variant |
| rs397508017 |
->A |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397508019 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508020 |
T>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs397508022 |
T>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397508024 |
->A |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397508025 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs397508026 |
CATCAGATTTATAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508027 |
ATA>TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508028 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs397508029 |
G>T |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397508030 |
->TCTA |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397508032 |
AAGAGCTAACATACAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508033 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508034 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508036 |
->C |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397508037 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397508038 |
T>A,C |
Not-provided, pathogenic |
Splice donor variant |
| rs397508039 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397508040 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508042 |
->G |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
| rs397508043 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508044 |
T>A |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397508045 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397508047 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397508048 |
TA>G |
Not-provided, pathogenic |
Stop gained, coding sequence variant |
| rs397508049 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508051 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508052 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508053 |
TTTCA>GAATGATC |
Pathogenic |
Stop gained, coding sequence variant |
| rs397508054 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508055 |
T>-,TT |
Not-provided, pathogenic |
Stop gained, coding sequence variant, frameshift variant |
| rs397508058 |
G>A,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs397508060 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397508061 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508062 |
ATGCATATACTGCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397508063 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs397508065 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs397515635 |
->NNNN,TTAG,TTAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs397515636 |
->TGCT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122530 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122531 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122535 |
GTGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122539 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122541 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122545 |
->TA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122546 |
AACA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122555 |
AATTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122556 |
CTTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122557 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122558 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs398122559 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122561 |
A>G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs398122565 |
G>A,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs398122568 |
AGAAA>- |
Uncertain-significance, pathogenic |
Coding sequence variant, frameshift variant |
| rs398122571 |
AAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122576 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122577 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, missense variant |
| rs398122580 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, missense variant |
| rs398122593 |
->AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122599 |
CCTCCCCTCT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122601 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122602 |
T>A,C,G |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs398122605 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122608 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122609 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122610 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122612 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122617 |
G>A,C |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs398122618 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122622 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122623 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122710 |
G>A |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
| rs398122711 |
G>A |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs398122712 |
A>G,T |
Risk-factor, uncertain-significance |
Coding sequence variant, missense variant |
| rs398122713 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Intron variant |
| rs398122715 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122716 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs398122723 |
G>A |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
| rs398122726 |
AAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122729 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122733 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122735 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122737 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122738 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs398122741 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122742 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122744 |
TG>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs398122746 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs398122747 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122748 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122749 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122752 |
AGGAA>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122753 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122762 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122763 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122772 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122775 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122776 |
C>G,T |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs398122777 |
C>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122778 |
GTTT>- |
Uncertain-significance, pathogenic |
Intron variant |
| rs398122779 |
A>G,T |
Pathogenic-likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs398122783 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122786 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122789 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122790 |
AT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122791 |
C>A,G |
Pathogenic |
Stop gained, coding sequence variant |
| rs398122793 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs398122796 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825288 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs431825291 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs431825292 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825300 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825302 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, missense variant |
| rs431825305 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825307 |
C>A,T |
Likely-benign, pathogenic |
Stop gained, coding sequence variant, synonymous variant |
| rs431825315 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825319 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs431825321 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825323 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825325 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825330 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825332 |
A>C,G,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs431825338 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825342 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825343 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825350 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs431825362 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
| rs431825371 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs431825377 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs431825379 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs483353072 |
ATA>NN,TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs483353073 |
TAG>AA,NN |
Pathogenic |
Splice acceptor variant, intron variant |
| rs483353077 |
TTT>AAAA,NNNN |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs483353082 |
AAAAA>AAAA,AAAAAA,GAAAAG,NNNNNN |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs483353110 |
TTTA>ATT,NNN |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs483353111 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs483353112 |
->ATAATTCT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs483353115 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs483353118 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs483353119 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs483353122 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs527732001 |
GT>- |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Intron variant |
| rs533806629 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
| rs535547513 |
C>A,G,T |
Likely-benign, pathogenic, uncertain-significance |
Synonymous variant, missense variant, coding sequence variant, stop gained |
| rs535952730 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs541826447 |
G>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs567476314 |
C>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs567889781 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs568027879 |
C>A,G |
Uncertain-significance, pathogenic |
Intron variant |
| rs572782576 |
T>C |
Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs572945276 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs574039421 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
| rs574271678 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs587776351 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs587776467 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587776468 |
T>A,C |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs587776476 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign, uncertain-significance |
Missense variant, coding sequence variant |
| rs587778122 |
C>G,T |
Not-provided, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs587779349 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587779357 |
T>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
| rs587779358 |
CGA>TTT |
Pathogenic |
Stop gained, coding sequence variant |
| rs587779362 |
GA>TT |
Pathogenic |
Stop gained, coding sequence variant |
| rs587779363 |
T>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs587779364 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587780646 |
T>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs587780653 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587780868 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Intron variant |
| rs587780871 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign, uncertain-significance |
Synonymous variant, missense variant, coding sequence variant |
| rs587780872 |
G>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs587780873 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign, uncertain-significance |
Synonymous variant, missense variant, coding sequence variant |
| rs587781422 |
GG>TA |
Pathogenic-likely-pathogenic, pathogenic |
Splice donor variant, coding sequence variant |
| rs587781436 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587781470 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587781471 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs587781480 |
TA>CTTTGTGGTAAGTTT |
Pathogenic |
Inframe indel, stop gained, coding sequence variant |
| rs587781486 |
->T |
Uncertain-significance, likely-pathogenic |
Splice donor variant |
| rs587781506 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs587781516 |
T>-,TTTTT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587781566 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587781585 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587781629 |
G>A |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Splice donor variant |
| rs587781647 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs587781648 |
TCTAGGACTTGCCCCTTTCGTCTATTT>- |
Pathogenic |
Splice acceptor variant, intron variant, coding sequence variant |
| rs587781665 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587781689 |
TTCCTGACCCTA>- |
Uncertain-significance, pathogenic |
Inframe indel, stop gained, coding sequence variant |
| rs587781772 |
AAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587781794 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs587781799 |
T>C,G |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs587781803 |
AAGAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587781804 |
TCAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587781849 |
->T |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
| rs587781850 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587781945 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587782010 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs587782011 |
T>-,TT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587782014 |
G>C,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs587782022 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587782028 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs587782075 |
->TA |
Pathogenic |
Stop gained, coding sequence variant |
| rs587782095 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs587782159 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs587782191 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs587782201 |
A>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs587782240 |
A>G,T |
Uncertain-significance, pathogenic, likely-benign |
Stop gained, missense variant, coding sequence variant |
| rs587782313 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs587782361 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587782375 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs587782378 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587782568 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
| rs587782590 |
G>A |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs587782598 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587782601 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
| rs587782611 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587782613 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs587782667 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587782672 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587782717 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587782774 |
A>C,G |
Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs587782780 |
GATTA>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs587782785 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs587782799 |
GTTA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587782854 |
TGA>C |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587782880 |
CCAG>T |
Likely-pathogenic |
Splice acceptor variant, intron variant |
| rs587782901 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs606231404 |
CTCCA>- |
Pathogenic |
Inframe indel, stop gained, coding sequence variant |
| rs690016538 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs690016539 |
A>C,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs690016540 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs690016541 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs690016542 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881511 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs730881521 |
A>C,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs730881540 |
T>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs730881543 |
T>A,C,G |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs730881548 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs730881573 |
G>A,C |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs730881581 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs730881583 |
C>A,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs730881584 |
C>A,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
| rs730881596 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs730881601 |
->GATA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881602 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881604 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881606 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881608 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881610 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881611 |
->GCAT |
Pathogenic |
Inframe indel, stop gained, coding sequence variant |
| rs730881612 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881613 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881614 |
ATGATACGGAAAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881615 |
GGTATGCTGTTA>TT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881617 |
G>- |
Pathogenic |
Splice donor variant, coding sequence variant |
| rs730881618 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881619 |
->ATTT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881620 |
AAGA>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs730881621 |
CT>- |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Frameshift variant, coding sequence variant |
| rs730882134 |
->AT |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730882168 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730882169 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs745456776 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs746661607 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs747070579 |
G>T |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs747418290 |
CAAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs747578057 |
A>G,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs748508287 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs748591104 |
C>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs749196803 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs749980674 |
->TA |
Pathogenic |
Stop gained, coding sequence variant |
| rs750341436 |
A>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs750385844 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs750704702 |
ACTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs751250810 |
A>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
| rs752858082 |
G>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
| rs753837544 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs753953146 |
->TG |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs754611265 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs755175776 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs756083696 |
AAA>-,AA |
Pathogenic, uncertain-significance |
Frameshift variant, coding sequence variant, inframe deletion |
| rs756105620 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs756411508 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs757410810 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
| rs758379999 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs759138390 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs760559435 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs760815829 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs761595544 |
T>A,C |
Pathogenic, likely-benign |
Stop gained, coding sequence variant, synonymous variant |
| rs761744738 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs761799851 |
GAAGA>-,GA |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, inframe deletion |
| rs763639231 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
| rs764019690 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs765231294 |
->AAGAAAAA |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs765352313 |
T>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs765435155 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs765444423 |
->GGAAG |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs766251541 |
GT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs767234936 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs768143929 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs768242833 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
| rs769017108 |
TG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs769152395 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
| rs769368098 |
C>A,G,T |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
| rs769535925 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant, synonymous variant |
| rs770042748 |
G>C |
Pathogenic |
Splice donor variant |
| rs770648856 |
TATAT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs771203198 |
G>A,C |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
| rs773097109 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign |
Intron variant |
| rs773229361 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs773272765 |
A>C,G |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs773286595 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs773356478 |
C>A,G,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, stop gained |
| rs773707172 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs773863936 |
G>A |
Likely-pathogenic |
Splice donor variant |
| rs774539540 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs774723315 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Coding sequence variant, missense variant |
| rs774808238 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs775859905 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs775947267 |
T>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs776353983 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained |
| rs777421358 |
C>A,G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs778052683 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs778782209 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs779007406 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs779520270 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs780489283 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs780919805 |
C>G,T |
Pathogenic, likely-benign |
Coding sequence variant, synonymous variant, stop gained |
| rs781079248 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs786201180 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic |
Intron variant |
| rs786201236 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
| rs786201237 |
T>A,C |
Pathogenic, likely-benign, likely-pathogenic |
Coding sequence variant, synonymous variant, stop gained |
| rs786201333 |
T>A,C,G |
Pathogenic, likely-pathogenic, likely-benign |
Coding sequence variant, synonymous variant, stop gained |
| rs786201640 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
| rs786201716 |
C>T |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
| rs786201950 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786201986 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786201997 |
G>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs786202156 |
TAGC>AGG |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs786202157 |
->AAAG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786202160 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786202353 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786202385 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786202421 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs786202441 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786202461 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained |
| rs786202543 |
G>A,C,T |
Pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs786202600 |
->T |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs786202618 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, missense variant |
| rs786202700 |
TT>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs786202789 |
->TACC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786202796 |
G>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
| rs786202798 |
AGTAA>C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786202875 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs786202920 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs786202945 |
TG>AT |
Pathogenic |
Coding sequence variant, stop gained |
| rs786203045 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs786203318 |
AT>-,ATAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786203329 |
TAG>- |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs786203340 |
CAAAT>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs786203359 |
T>A,C |
Pathogenic, likely-benign, likely-pathogenic |
Coding sequence variant, synonymous variant, stop gained |
| rs786203430 |
->GAAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786203492 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786203494 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786203546 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786203575 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786203640 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, synonymous variant |
| rs786203660 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786203680 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs786203843 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786203845 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs786203853 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
| rs786204209 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786204278 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786204279 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786204280 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs786204281 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786204283 |
C>G |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
| rs786204284 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, missense variant |
| rs786204752 |
ACTTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs794727014 |
TAGAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs796460349 |
A>-,AA |
Pathogenic, not-provided |
Coding sequence variant, frameshift variant |
| rs797044987 |
AT>C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs863224315 |
C>A,T |
Pathogenic, likely-benign |
Coding sequence variant, synonymous variant, stop gained |
| rs863224317 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs863224467 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs863224468 |
T>C,G |
Pathogenic, likely-benign |
Coding sequence variant, stop gained, synonymous variant |
| rs863224469 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs863224584 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, missense variant |
| rs863224585 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs863224824 |
AT>-,ATAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs863224825 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs863224827 |
CTTCCAGGGAC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs863224828 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs864622073 |
C>G,T |
Pathogenic, likely-benign |
Coding sequence variant, synonymous variant, stop gained |
| rs864622082 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs864622134 |
A>- |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs864622200 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs864622352 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs864622401 |
->TG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs864622434 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs864622476 |
G>A,C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs864622568 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs864622609 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained |
| rs864622672 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs864622735 |
ACCGTGTGGAAG>TCCC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869040376 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869312759 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869312760 |
TCGCTTTTCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869320781 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869320782 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869320783 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869320793 |
ACAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869320794 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869320797 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869320798 |
GA>C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869320799 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869320800 |
GTAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs869320801 |
G>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant |
| rs876657678 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs876658294 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658329 |
->A,AA |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs876658364 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Coding sequence variant, missense variant |
| rs876658425 |
GCATAGTC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658427 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658470 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658555 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658577 |
T>A |
Likely-pathogenic |
Splice donor variant |
| rs876658589 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658618 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658631 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs876658643 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658648 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs876658654 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658660 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658789 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658803 |
T>A,C |
Pathogenic, likely-benign |
Coding sequence variant, missense variant, stop gained |
| rs876658850 |
GTCTT>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs876658861 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658888 |
TGTTGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658889 |
A>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs876658927 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658928 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658929 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876658951 |
G>C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs876659047 |
TC>AT |
Pathogenic |
Coding sequence variant, stop gained |
| rs876659100 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs876659211 |
ACTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659229 |
AGAT>- |
Likely-pathogenic |
Coding sequence variant, intron variant, splice acceptor variant |
| rs876659236 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659258 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs876659261 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659278 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659317 |
->GT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659318 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659345 |
TT>-,TTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659346 |
A>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs876659359 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs876659368 |
T>A,G |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs876659435 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659482 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659606 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659617 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659627 |
T>C,G |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs876659656 |
TGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659767 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659770 |
CAAA>GG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659847 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs876659862 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876659977 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660026 |
AA>-,AAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660043 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660044 |
T>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs876660228 |
TC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660287 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660311 |
TGGCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660385 |
->CAAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660394 |
G>C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs876660421 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660447 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs876660504 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660510 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660512 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs876660524 |
G>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs876660532 |
AA>G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660563 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660599 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660636 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660637 |
A>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs876660676 |
CGTAAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660755 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876660812 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs876661023 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876661045 |
T>C |
Likely-pathogenic |
Splice donor variant |
| rs876661056 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs876661062 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs876661201 |
A>G |
Pathogenic, uncertain-significance |
Intron variant |
| rs876661220 |
->TCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCT |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs876661236 |
G>-,GG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs876661242 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs876661261 |
A>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs876661270 |
CT>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs876661285 |
A>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs878853287 |
A>C,G |
Pathogenic |
Splice acceptor variant |
| rs878853297 |
AA>-,A,AAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853298 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853299 |
CTG>TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853301 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853302 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853303 |
->A,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853304 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853559 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs878853560 |
TG>- |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs878853561 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs878853567 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853568 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853569 |
->GA |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs878853573 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853577 |
->CATC |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs878853579 |
GG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853585 |
C>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
| rs878853595 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853599 |
->T |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs878853605 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853608 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853611 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878853619 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879254111 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879254122 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879254123 |
AGAA>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs879254138 |
GTTAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255298 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs879255300 |
AAG>TAAGACT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255306 |
T>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs879255309 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
| rs879255310 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255311 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255321 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255322 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255323 |
AATC>CATT |
Pathogenic |
Coding sequence variant, stop gained |
| rs879255325 |
A>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs879255326 |
G>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs879255327 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255328 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255329 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255331 |
TCTTTCCACAGCCA>G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255332 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255333 |
AGGAATTTGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255437 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255440 |
TAATA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255441 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255442 |
CA>- |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs879255450 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255452 |
A>G,T |
Pathogenic, likely-benign |
Coding sequence variant, missense variant, synonymous variant |
| rs879255453 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255457 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255458 |
A>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs879255460 |
GACA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255463 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879255469 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886037797 |
AACTAACC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886037798 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886037799 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886037800 |
TT>-,TTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886037801 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886037802 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886037803 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886037804 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886037805 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886037818 |
A>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886038047 |
ACCC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038050 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038053 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038054 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038055 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038056 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038057 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038058 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038059 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038060 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038061 |
ACCGT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038062 |
CTCAACTAACCCTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038063 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038064 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038065 |
AGAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038066 |
AA>-,A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038067 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038068 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038070 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038071 |
TT>-,T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038074 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038075 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038076 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038077 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038080 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886038082 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038083 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886038084 |
C>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038089 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038091 |
AGTGGGGTTTAGGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038092 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038093 |
GTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038094 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038095 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038096 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038098 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038101 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038102 |
ATAA>T |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs886038103 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038104 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038105 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038106 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038107 |
GTTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038108 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs886038110 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038111 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs886038112 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038113 |
C>GA |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038114 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038115 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038116 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038118 |
T>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038120 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038121 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038122 |
G>C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886038123 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038124 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038125 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038130 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038131 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038133 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038134 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038135 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038136 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038137 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038138 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038139 |
GAACA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038140 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038141 |
AA>-,A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038143 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038144 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038145 |
A>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886038146 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038149 |
AAATTGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038150 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038151 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038153 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038154 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038155 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038156 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038158 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038159 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038160 |
TTTGTATGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038162 |
ACTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038163 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038164 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038165 |
TGACA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038166 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038169 |
->TA |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038170 |
C>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886038171 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant, stop gained |
| rs886038172 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038173 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038175 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038176 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038177 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038178 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038179 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038180 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038182 |
G>AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038183 |
GTG>G,TCCATTACA |
Pathogenic, likely-pathogenic |
Coding sequence variant, splice acceptor variant |
| rs886038184 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038186 |
GAAGAGCAGT>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038187 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886038188 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038189 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038191 |
AATTTAC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038192 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886038194 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886039315 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886039318 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886039319 |
GACA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886039320 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886039504 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040339 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040340 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040341 |
TTTCTTC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040342 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040343 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040344 |
TCAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040345 |
T>A,C,G |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886040346 |
C>A,G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886040347 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040348 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040349 |
G>TTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040350 |
TACCCCTATTG>ACAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040351 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040352 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040353 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040354 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040355 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040356 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040357 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040358 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040359 |
T>-,TTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040360 |
->CT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040361 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040363 |
T>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040364 |
AGATGAAGAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040365 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040366 |
->CAGT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040367 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040368 |
GGCTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040369 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040370 |
AAAAAGTC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040372 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040373 |
AAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040374 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040375 |
TAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040376 |
T>CA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040377 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040378 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040379 |
AATT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040380 |
TGATAAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040381 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040382 |
GCCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040383 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040384 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040385 |
TATCCACTTTGAAAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040387 |
TATG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040388 |
ATGAAACATCTTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040389 |
A>-,AA |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040390 |
TATAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040391 |
AA>G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040392 |
TTAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040393 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040394 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040395 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040396 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040397 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040398 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs886040399 |
->AGCT |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040400 |
->GA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040401 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040402 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040403 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040404 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040405 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040406 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040407 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040408 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040409 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040410 |
->AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040411 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040412 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040413 |
GCATGTCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040414 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040415 |
->TTCAAAAGTGGAATTCAAAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040416 |
->A |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040417 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040418 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040419 |
A>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886040420 |
AA>-,A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040422 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040423 |
G>-,GG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040424 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040425 |
CAAAAATA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040426 |
->GA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040427 |
T>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040428 |
G>C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886040429 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040430 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040431 |
GAAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040432 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040433 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040435 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040436 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040437 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040438 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040439 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040440 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040441 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040442 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040443 |
T>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040444 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040445 |
->ATGG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040446 |
TTCAAGAACTCTAC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040447 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040448 |
GGTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040449 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040450 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040451 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040452 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040453 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040455 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040456 |
AACAAATGGGCAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040457 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886040458 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040460 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040461 |
CTTG>ATTTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040463 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040464 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040465 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040466 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040468 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040469 |
->TAATTTAACACCTAGCCAAAAGGCAGAAATTACA |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040470 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040471 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040472 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040473 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040474 |
TTGCAGAAGAGTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040475 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040476 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040477 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040478 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040479 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040480 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040481 |
ACAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040483 |
TAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040484 |
ACTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040485 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040486 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040487 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040488 |
AAATG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040489 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040490 |
ATGGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040491 |
T>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040492 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040493 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040494 |
A>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040495 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040497 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040498 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040500 |
TAAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040501 |
AATG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040503 |
AAGAAATTACTGAAAATTACAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040504 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040505 |
AATA>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040506 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040507 |
TACT>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040509 |
AATGAT>C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040510 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040511 |
->CATC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040512 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040513 |
AGAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040515 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040516 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040517 |
GAGACTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040518 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040519 |
C>-,CC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040520 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040521 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040522 |
AT>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040523 |
GTTCT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040524 |
AAATT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040525 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040526 |
T>A,G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040527 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040528 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040529 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040530 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040531 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040532 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040533 |
AATACTGA>TGTTTTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040534 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040536 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040537 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040538 |
->CGAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040539 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040540 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040541 |
TGA>GG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040542 |
GA>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040543 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040544 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040546 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040547 |
G>AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040548 |
A>G,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs886040549 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040550 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040551 |
A>GCTCT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040553 |
A>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886040554 |
GAAAAAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040555 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040556 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040557 |
T>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040558 |
T>-,TTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040559 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886040560 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040561 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040562 |
ACTTCATTACTTGAAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040563 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040564 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040565 |
AAATA>G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040566 |
ACTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040567 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040568 |
GATTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040569 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040570 |
TAATT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040571 |
TTCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040572 |
AAACAGTAC>TACAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040573 |
->CC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040575 |
ACAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040577 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040578 |
->A,AAA |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040579 |
TT>A |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs886040580 |
TTAAGTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040581 |
TTAAGTAACAGTAGCAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040582 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant, stop gained |
| rs886040583 |
->TA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040584 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040585 |
ATAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040586 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040587 |
TTGATTCTG>A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040588 |
AAGAAT>G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040589 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040590 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040591 |
->GACT |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs886040592 |
->GC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040593 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040594 |
AA>-,A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040595 |
AATCGTTTGTGTTTCAC>TTGGCT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040596 |
GTTTGTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040598 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040599 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040600 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040601 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040602 |
T>-,TT |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040603 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040604 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040605 |
CCTGATAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040606 |
->AACG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040607 |
GAGGATATTCTTCA>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040608 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040609 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040610 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
| rs886040611 |
TCTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040612 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040613 |
->ATCACCTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040614 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040615 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040616 |
->AGTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040617 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040618 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040619 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040620 |
->AGCTA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040621 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040622 |
GCTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040623 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040624 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040625 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040627 |
AGATA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040628 |
AGTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040629 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040630 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040631 |
AG>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040632 |
GACCAGCTCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040633 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040634 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040635 |
GAAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040636 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040638 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040639 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040641 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040642 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040643 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040644 |
CAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040645 |
GAAC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040646 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040647 |
GC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040648 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040649 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040650 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040651 |
CC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040652 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040653 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040654 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040656 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040657 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040658 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040659 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040660 |
G>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs886040662 |
TC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040663 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs886040664 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040665 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040667 |
TGGAAATTGGTAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040668 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040669 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040670 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040671 |
CC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040672 |
CTCC>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040673 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040675 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040676 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040677 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040678 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040679 |
TT>-,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040680 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040682 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040683 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040684 |
CAAGAGATACAGAATCCAAAT>TG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040685 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886040687 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040688 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040690 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040691 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040693 |
->TTCC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040694 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040695 |
TTAACTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040696 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040697 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040698 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040699 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040700 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040701 |
TTTATCGCTTCTGTGACAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040702 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040703 |
GTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040704 |
TCAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040705 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040706 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040707 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040708 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040709 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040710 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040711 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040712 |
ACGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040713 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040714 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040715 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040716 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040717 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040719 |
AG>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040720 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040721 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040722 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040723 |
TAAACATTGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040724 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040725 |
CACAAA>AAACAAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040726 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040727 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040728 |
->ATACC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040729 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040730 |
TG>- |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs886040731 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040732 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040733 |
->GATC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040734 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886040735 |
->GAAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040736 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040737 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040738 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040739 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040740 |
TCGGCTATAAAAAAGATAATGGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040742 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040743 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040744 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040745 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040746 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040747 |
->ACTTACAGATGGGTGGTATGCTGTTAAGGCCCAGTTA |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs886040748 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040749 |
TAGATCCT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040750 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040751 |
AGTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040752 |
CT>TA |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040753 |
TGGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040754 |
->TC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040755 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040756 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040757 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040758 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040759 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040760 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040761 |
TAAAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040762 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040763 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040764 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040765 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040766 |
CTTGGATTCTT>A,AAG,AGG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040767 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040768 |
->CTAG |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs886040769 |
CTAGACC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040770 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040771 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040772 |
TTT>AAAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040773 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040774 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040775 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040776 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040777 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040778 |
A>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
| rs886040779 |
T>A,G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040780 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040781 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040782 |
T>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040783 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040784 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040785 |
AA>-,A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040787 |
T>C,G |
Pathogenic, likely-benign |
Coding sequence variant, stop gained, synonymous variant |
| rs886040788 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040789 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040790 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040791 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040792 |
GGCAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040793 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040794 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040795 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040796 |
->GG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040797 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040798 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs886040799 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040800 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040801 |
T>A,G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040802 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040803 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040804 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040805 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040806 |
CTGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040807 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040808 |
->AGAT |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040809 |
CTCTGTTAACAGAAGGAAAGAGATACAGAATT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040810 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040811 |
->TCTA |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs886040812 |
TTATCATCTTGCAACTTCAAAAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040814 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040815 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040816 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040817 |
->AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040818 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040819 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040820 |
C>TACT |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs886040821 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040822 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040823 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040824 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040825 |
->ATTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040826 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040827 |
TTGTCAGACGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040828 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040829 |
TTACAATTTACTGGCA>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040830 |
->TTAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040831 |
GAGGA>CCT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040832 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040833 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040834 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040835 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040836 |
AATT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040837 |
GCGACCAG>- |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
| rs886040838 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040839 |
GCTGGAGATTTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040840 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040841 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040842 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040843 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040844 |
GCTTATGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040845 |
->CTGCATGCAAATGA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040847 |
TAAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040848 |
AGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040849 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs886040850 |
->T |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040851 |
GA>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040852 |
T>A,C |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
| rs886040853 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040854 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040867 |
AT>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040923 |
ACAATTATGAATCTGATGT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040925 |
TTTTAGTCCTGTTGTTCTA>- |
Pathogenic |
Coding sequence variant, intron variant, splice acceptor variant |
| rs886040926 |
CCAG>- |
Pathogenic |
Intron variant, splice acceptor variant |
| rs886040929 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040930 |
A>- |
Pathogenic |
Splice acceptor variant |
| rs886040932 |
T>- |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs886040933 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs886040935 |
G>A,T |
Pathogenic, uncertain-significance |
Splice donor variant |
| rs886040936 |
G>A |
Pathogenic-likely-pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs886040937 |
T>A,C,G |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs886040939 |
G>C |
Pathogenic |
Splice acceptor variant |
| rs886040940 |
A>G |
Pathogenic |
Splice acceptor variant |
| rs886040941 |
T>G |
Pathogenic |
Splice donor variant |
| rs886040942 |
T>G |
Pathogenic |
Splice donor variant |
| rs886040943 |
C>A,G |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs886040944 |
T>C |
Pathogenic |
Splice donor variant |
| rs886040945 |
TTAATAATCCTTTTGTTTTCTTAGAA>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, intron variant, splice acceptor variant |
| rs886040947 |
T>C,G |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs886040948 |
T>G |
Pathogenic |
Intron variant |
| rs886040949 |
A>G |
Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Intron variant |
| rs886040950 |
G>A,C |
Pathogenic |
Splice acceptor variant |
| rs886040951 |
TCTGTAGGTTT>- |
Pathogenic |
Coding sequence variant, intron variant, splice acceptor variant |
| rs886040952 |
GGT>ACAG |
Pathogenic |
Coding sequence variant, splice donor variant |
| rs886040953 |
->AGGACTT |
Pathogenic |
Coding sequence variant, intron variant, splice acceptor variant |
| rs886040954 |
A>G |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs886040955 |
TAGGA>- |
Pathogenic |
Coding sequence variant, intron variant, splice acceptor variant |
| rs886040956 |
GAGGT>- |
Pathogenic |
Coding sequence variant, splice donor variant |
| rs921017191 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs932657676 |
A>G |
Uncertain-significance, likely-pathogenic |
Intron variant |
| rs949790323 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs966360777 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant, synonymous variant |
| rs979372317 |
G>A,C,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs1002900129 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
| rs1053022395 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs1057517565 |
TTTC>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1057517566 |
AA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1057517572 |
->T |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1057517595 |
GT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1057517636 |
A>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
| rs1057517865 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1057518635 |
ATAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1057518637 |
C>G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs1057518638 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1057519559 |
AACA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1057520251 |
G>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs1057520636 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1057521184 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1057524419 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs1060499833 |
T>C,G |
Likely-benign, pathogenic |
Coding sequence variant, stop gained, synonymous variant |
| rs1060502376 |
G>A,C,T |
Uncertain-significance, pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Splice acceptor variant |
| rs1060502377 |
T>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs1060502385 |
GTA>TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502391 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502392 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502395 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502400 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502403 |
C>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs1060502414 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1060502426 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502432 |
T>A,C |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, missense variant |
| rs1060502433 |
G>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs1060502436 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs1060502437 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502443 |
A>G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
| rs1060502444 |
TC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502449 |
G>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs1060502454 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502455 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502459 |
T>A,C |
Uncertain-significance, pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs1060502465 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502466 |
T>C |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
| rs1060502471 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502475 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502478 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502482 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502484 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1060502485 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
| rs1060504610 |
C>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs1064792960 |
AACCATCTTATAATCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064792961 |
AGAG>TGAGGA |
Pathogenic |
Coding sequence variant, inframe indel, stop gained |
| rs1064792962 |
CAAGCA>GC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793061 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793063 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793064 |
GTT>TA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793067 |
AGAAA>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs1064793413 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793467 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793471 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793572 |
ACTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793627 |
AAGAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793860 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793898 |
TCAGAACTAATT>ATCAG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064793945 |
A>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1064794018 |
C>G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs1064794059 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064794115 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064794168 |
->GT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064794337 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064794377 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064794521 |
T>A,C |
Likely-benign, pathogenic |
Coding sequence variant, synonymous variant, stop gained |
| rs1064794550 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064794647 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064794708 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064794812 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064794821 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064794921 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064795043 |
GC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064795172 |
CGATT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064795216 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064795286 |
AGTACTCG>CA |
Likely-pathogenic |
Coding sequence variant, inframe indel |
| rs1064795469 |
->TAATTGCAGTCAATTAATA |
Pathogenic |
Coding sequence variant, inframe indel, stop gained |
| rs1064795500 |
TAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064795577 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1064795578 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064795652 |
A>G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs1064795789 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064795851 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064795884 |
GCCAGAGATATACAGGATATGCGAAT>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs1064795934 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1064796073 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1085308035 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs1085308037 |
AAGAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1085308038 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1131692035 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs1131692119 |
T>C,G |
Likely-benign, likely-pathogenic |
Coding sequence variant, stop gained, synonymous variant |
| rs1131692274 |
T>G |
Pathogenic |
Coding sequence variant, stop gained |
| rs1135401890 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401891 |
->CT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401892 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401893 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401894 |
TA>- |
Pathogenic |
Coding sequence variant, inframe indel, stop gained |
| rs1135401898 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401899 |
TAGT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401900 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401901 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1135401902 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401903 |
AAGT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401904 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs1135401905 |
->T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1135401906 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401907 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401910 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401912 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401914 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401915 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401916 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401917 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401918 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401919 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs1135401921 |
TA>AG |
Likely-pathogenic |
Intron variant, splice acceptor variant |
| rs1135401922 |
AG>TA |
Pathogenic |
Coding sequence variant, stop gained |
| rs1135401923 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401924 |
->AG |
Pathogenic |
Coding sequence variant, stop gained |
| rs1135401925 |
C>G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs1135401927 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401928 |
A>C,G,T |
Pathogenic |
Splice acceptor variant |
| rs1135401929 |
CAGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1135401937 |
AACAGTTGT>GATACTTAG |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1162394508 |
C>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1228762581 |
A>T |
Likely-pathogenic |
Splice acceptor variant |
| rs1237049560 |
G>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
| rs1379054137 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs1403242422 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs1405341259 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1434072252 |
T>A,C |
Likely-pathogenic |
Splice donor variant |
| rs1434821822 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs1466688245 |
T>C,G |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
| rs1472572621 |
T>- |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs1477341630 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
| rs1555280326 |
A>G,T |
Pathogenic, uncertain-significance |
Intron variant |
| rs1555280340 |
TCTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555280367 |
C>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555280374 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs1555280383 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555280388 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555280423 |
->GTAC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555280425 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555280427 |
->CCAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555280845 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555280854 |
AAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555280855 |
AAT>TA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555280859 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
| rs1555280869 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555280954 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555280955 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555280966 |
T>A,C |
Likely-pathogenic |
Splice donor variant |
| rs1555280989 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281000 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281044 |
AACATAT>GAC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281066 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281068 |
->AACG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281101 |
->TGAG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281102 |
->TGAG |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555281103 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281111 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs1555281357 |
TACTACTGCTGTAAGTAAATATGACATTGATTA>- |
Pathogenic |
Coding sequence variant, splice donor variant, intron variant |
| rs1555281452 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281459 |
CT>- |
Pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281462 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281463 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281465 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281467 |
TCTGTGACAGACA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281474 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281477 |
AAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281594 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281599 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281604 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281622 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281627 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281630 |
ATAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281631 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281638 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281681 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281715 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281716 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281742 |
AA>C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281766 |
->TTAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281767 |
->TTAG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281768 |
->CAAC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281769 |
->CAAC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281775 |
->A |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281805 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281841 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281845 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555281849 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281888 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281890 |
G>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555281894 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555281909 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281911 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555281935 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555281937 |
->TA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281944 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281956 |
->CC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281966 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555281999 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1555282011 |
TTGAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282016 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282023 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282048 |
A>T |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs1555282054 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282073 |
TGATGAAACATCTTATAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282094 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282108 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282120 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282128 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282146 |
TACATTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282148 |
->CA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282150 |
CA>GGG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282156 |
TTCAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282353 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282370 |
GTTC>TTTA |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555282375 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282390 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282448 |
TTATTTATTACCCCAGAAGC>GCA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282449 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555282454 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282477 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282489 |
ATGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282499 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282521 |
->AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282563 |
C>G,T |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs1555282569 |
->TTCAAAAGTGGAATTCAAAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282584 |
AATC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282597 |
AT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555282658 |
->GGTAACAATTATGAATCTGATGTTGA |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282680 |
TCAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282700 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282757 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282764 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282786 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282790 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555282795 |
->GA |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282830 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282834 |
->ATGG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282889 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282911 |
G>A,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
| rs1555282923 |
CATATAAAAATGACTCTAGGTCAAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282969 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282974 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555282990 |
TT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283001 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555283011 |
TTCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283031 |
ACAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283051 |
AT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555283070 |
TTAGATAATCAA>AG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283072 |
TCA>CC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283079 |
->A |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283086 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283098 |
->AATTGCAGTCAATTAATAT |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555283099 |
ATCT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283134 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283160 |
T>-,TTT |
Pathogenic |
Stop gained, coding sequence variant, frameshift variant |
| rs1555283169 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555283173 |
G>T |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs1555283184 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283186 |
->TA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283197 |
GGAAGTC>ATTCTTCTAATTAATTGAATCAATTAAATTCAAACTG |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs1555283206 |
G>T |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs1555283209 |
C>T |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs1555283219 |
G>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283245 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283249 |
TCTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283251 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283256 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283262 |
GATGCTGATCT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283267 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs1555283311 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283318 |
GA>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555283322 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283351 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283355 |
CTGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283361 |
A>GG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283366 |
C>T |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs1555283371 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283373 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283381 |
TATT>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283391 |
AGGT>TTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283393 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283397 |
T>A,G |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs1555283405 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283406 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283411 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283431 |
TAATA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283442 |
->AAT |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555283445 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555283468 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283478 |
AAATTACAAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283479 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283488 |
->NNNN,TTGC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283504 |
GC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283548 |
->CATC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283552 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283571 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283588 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283664 |
->T |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs1555283667 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283672 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283735 |
TCTTT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555283736 |
TCAGAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283752 |
A>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283766 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283772 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555283785 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555283813 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283829 |
->CGAT |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs1555283841 |
AGAACCTACTCTATTGGGTTTTCATACAGCTAGCGGGAAAAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283865 |
A>G,T |
Pathogenic-likely-pathogenic, pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
| rs1555283867 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283876 |
->CG |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283889 |
GGTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283907 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283911 |
CA>- |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs1555283915 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283924 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283928 |
T>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283942 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283971 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555283980 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284013 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284014 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284020 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284032 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555284044 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555284058 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555284062 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284090 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284091 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
| rs1555284094 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284096 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284103 |
->G |
Pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284111 |
->AATA |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1555284115 |
->TA |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555284120 |
->T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1555284121 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284127 |
->CT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284129 |
->TA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284133 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555284139 |
T>A,C |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs1555284157 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284173 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284179 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284182 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284188 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284191 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284212 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555284237 |
A>-,AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284244 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284298 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284326 |
TCAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284330 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284348 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284397 |
ATAAC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284398 |
CATAACC>T |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs1555284402 |
A>TT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284404 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284407 |
TGTCTGGATT>GTC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284412 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284417 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284423 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284442 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284457 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284458 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284465 |
T>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284490 |
ACAAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284495 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284507 |
->GT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284508 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284533 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284538 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284549 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284559 |
T>G |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1555284562 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284566 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284584 |
GGAAAGCAAGT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284602 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555284605 |
G>C,T |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
| rs1555284612 |
ATCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284614 |
->GT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284618 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284628 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284637 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555284643 |
AAACC>TTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284649 |
AAC>T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284655 |
AC>G |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284658 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555284670 |
->AAAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284677 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284710 |
->T |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284717 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555284730 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284737 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284738 |
->CATTCATG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284745 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284746 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284766 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1555284779 |
A>G,T |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
| rs1555284786 |
->AAAG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284790 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284792 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284811 |
->GG |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284822 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284825 |
->CA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284827 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284862 |
->AGCC |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555284866 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555285132 |
A>G |
Likely-pathogenic, uncertain-significance |
Splice acceptor variant |
| rs1555285146 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555285156 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Synonymous variant, coding sequence variant, missense variant |
| rs1555285331 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555285347 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555285350 |
AGAGCCGATTACCTGTGTACCCTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555285358 |
GAT>TGTG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555285979 |
->TG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286031 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286048 |
CTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286052 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286054 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286059 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286065 |
AACTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286075 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286097 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286098 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286105 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286120 |
T>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1555286226 |
->TA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286239 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286251 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286255 |
CGCGTCTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286267 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555286291 |
A>G,T |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
| rs1555286294 |
G>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555286296 |
->TAGG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286298 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286301 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286303 |
CTGCGTGTTCTCATAAACAGGTATGTGTTTGTCTACAATACTGATGGCTTTTATGACAGAGTGTAATTTTATTTCATTAACTAGTATCTACAAATGGCTTTGTTTAAAGAATGAACACATTAGTGCAGGAATGGATGAATGAAATCATCATATTTTCTAATTAGCCTGCAGTGGCAGCCTCTGGCCCCTTGCTAGGCCTGCCTCATCCTGCTAAAGTGATCTGTGCTTCCAAATTACTACTTCTTTTCCCCCTTC |
Pathogenic |
Coding sequence variant, splice donor variant, intron variant |
| rs1555286388 |
GTATGGCGTTTC>T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286406 |
->AAAC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286423 |
T>A,C |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
| rs1555286434 |
AATACA>CTGATGGTG |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs1555286443 |
->GC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286824 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286826 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286828 |
TCCAAAGCTTA>G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286842 |
G>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555286851 |
->GAAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286861 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286933 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286958 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
| rs1555286962 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286967 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555286989 |
GCGCAAATATATCTGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555287001 |
CTAGCAAT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555287033 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555287043 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555287052 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555287062 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555287071 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555287629 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555287643 |
T>-,TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555287644 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555287661 |
TTCAAAGA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555287731 |
GTGGATGGAG>CT |
Likely-pathogenic |
Coding sequence variant, splice acceptor variant |
| rs1555287732 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555287766 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555287781 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288117 |
AAAACACAACAAAACCATATTTACCATCACGTGCACTAACAAGACAGCAAGTTCGTGCTTTGCAAGATGGTGCAGAGCTTTATGAAGCAGTGAAGAATGCAGCAGACCCAGCTTACCTTGAG>- |
Pathogenic |
Coding sequence variant, splice acceptor variant |
| rs1555288125 |
->TT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288145 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288165 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288166 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555288169 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288172 |
G>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288177 |
->CTTA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288366 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288379 |
AAACAAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288382 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288386 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288389 |
ATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGATT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288397 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555288431 |
CCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTG |
Pathogenic |
Coding sequence variant, splice donor variant, splice acceptor variant, intron variant |
| rs1555288435 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
| rs1555288443 |
GTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA>- |
Pathogenic |
Coding sequence variant, inframe indel |
| rs1555288449 |
->AGAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288450 |
TCTCTGTTAACAGAAGGAAAGAGATACAGAATTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288462 |
->GATA |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555288465 |
->TCTA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288494 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288503 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288504 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288507 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288544 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288547 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288549 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288557 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288559 |
CCTAATAGGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288561 |
->TTTA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288564 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288584 |
CAGGTAATGCACAA>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant, intron variant |
| rs1555288587 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555288591 |
T>C |
Likely-pathogenic, uncertain-significance |
Splice donor variant |
| rs1555289496 |
G>- |
Pathogenic |
Coding sequence variant, splice acceptor variant |
| rs1555289501 |
->TATTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289508 |
GTTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289518 |
->AAAGTTTTGGATAGACCTTAAT |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs1555289521 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555289522 |
->TTAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289525 |
->ATTA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289529 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555289573 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289575 |
->CTGATTTGGACCACT |
Pathogenic |
Stop gained, inframe insertion, coding sequence variant |
| rs1555289589 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289602 |
->TGAT |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1555289604 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289771 |
->CTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289777 |
GCAAATGATCCC>AAGTGGTCCACCCCAACTA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289787 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289791 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289805 |
->A |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289898 |
G>C,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs1555289922 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289923 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289928 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289953 |
GAGAA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289966 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289992 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1555289997 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555290003 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1555290049 |
C>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Stop gained, coding sequence variant |
| rs1556425300 |
G>AA |
Pathogenic |
Splice acceptor variant |
| rs1566215661 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566215685 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566215870 |
GAAACCATCTTATAATCAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566215948 |
TCCAATAATATTCAAAGAGCAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566218217 |
->CTAAATTC |
Pathogenic |
Stop gained, inframe insertion, coding sequence variant |
| rs1566219179 |
CACC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566219199 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566220586 |
->G |
Likely-pathogenic |
Splice acceptor variant |
| rs1566221288 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566221377 |
GA>CT |
Pathogenic |
Stop gained, coding sequence variant |
| rs1566221413 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566222053 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
| rs1566222289 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566222463 |
AAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566222651 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566223261 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
| rs1566223465 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566223700 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1566223748 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566224242 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566224293 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566224496 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566225769 |
G>A,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
| rs1566225794 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566226165 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566226235 |
AGC>CT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566226658 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566227892 |
TCAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566228017 |
GTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566228743 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566228876 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1566229335 |
TTACA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566229411 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566229421 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566229677 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566230041 |
TATTA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566230089 |
AAAAT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566230144 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1566230215 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566230322 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566231025 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566231194 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1566231260 |
TATGTAGACAAACTGAAAAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566231316 |
GTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566231364 |
G>T |
Pathogenic-likely-pathogenic |
Stop gained, coding sequence variant |
| rs1566231778 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs1566231879 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566231890 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566231964 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566232050 |
T>G |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
| rs1566232230 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566232310 |
TC>A |
Pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566232356 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566232365 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566232471 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1566232608 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566232824 |
TAATT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566233171 |
TTGCTGACATT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566233278 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1566233714 |
T>CG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566233919 |
C>TA |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1566234047 |
->C |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1566234108 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566234249 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1566234270 |
->TA |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566234273 |
TCTAGACAAA>AGG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566234560 |
->GGTT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566234646 |
TAAAGTTTCTCCAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566235284 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566235342 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566235386 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566236904 |
GGATA>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1566237849 |
CTGTGTACCCTTTCGGTAAGAC>- |
Pathogenic |
Coding sequence variant, splice donor variant, intron variant |
| rs1566237861 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566241033 |
AAAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566241084 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566241334 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, coding sequence variant |
| rs1566241336 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1566241962 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566241990 |
->TTTC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566242125 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566242216 |
->AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566242661 |
AT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566244864 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566244965 |
->TT |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1566244975 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566245525 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566245715 |
T>A,C |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
| rs1566245731 |
TTAAA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566248664 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566248843 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566248936 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566248946 |
CATACCCTATACAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566248961 |
CCTATACAGGTATGATG>- |
Pathogenic |
Coding sequence variant, splice donor variant, intron variant |
| rs1566249217 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566249353 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566251448 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566252482 |
A>C,G |
Likely-pathogenic |
Splice acceptor variant |
| rs1566252592 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566252738 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566252995 |
AGTTATAC>- |
Pathogenic |
Coding sequence variant, splice acceptor variant, intron variant |
| rs1566253262 |
A>GG |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566253399 |
GT>TC |
Pathogenic |
Splice donor variant |
| rs1566260198 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566260318 |
T>C,G |
Likely-pathogenic |
Splice donor variant |
| rs1566260735 |
ATGTCTTCTCCTAATTGTGAGATATATTATCAAAGTCCTTTATCACTTTGTATGGCCAAAAGGAAGTCTGTTTCCACACCTGTCTCAGCCCAGATGACTTCAAAGTCTTGTAAAGGGGAGAAAGAGATTGATGACCAAAAGAACTGCAAAAAGAGAAGAGCCTTGGATTTCTTGAGTAGACTGCCTTTACCTCCACCTGTTAGTCCCATTTGTACATTTGTTTCTCCGGCTGCACAGAAGGCATTTCAGCCACCA |
Pathogenic |
Stop lost, inframe deletion, terminator codon variant |
| rs1566260827 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1566260997 |
AA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1566261010 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
| rs1566261091 |
AGTCCCATTTGTACATT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1593199940 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593201632 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593201647 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593201677 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593201811 |
GAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593201815 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593201819 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593882341 |
AGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGAA>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
| rs1593882502 |
->GCCGGGCGCGGTCGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGACACCATCCCGGCTGAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGC |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs1593882540 |
CGAACCAAACCTATTTA>- |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs1593882605 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593882934 |
T>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593885872 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593886887 |
A>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1593890163 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593890204 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593891249 |
GACCACA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593891461 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, coding sequence variant, missense variant |
| rs1593891502 |
->AGTT |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593891539 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593891760 |
TG>- |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs1593892424 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593892461 |
AGAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593892663 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593892698 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593892854 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593892928 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593892953 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593893158 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593893206 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593893353 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593893796 |
GTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593893831 |
GATGAAACAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593893879 |
->ATCT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593895760 |
GGTTTA>- |
Likely-pathogenic |
Coding sequence variant, splice acceptor variant, intron variant |
| rs1593895866 |
GAAGAACCAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593895871 |
AAGAACC>TG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593896252 |
AG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1593896259 |
->T |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1593896336 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593896605 |
TTTTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593896647 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593896907 |
T>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593897122 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593897379 |
G>C |
Risk-factor |
Coding sequence variant, missense variant |
| rs1593897737 |
ACCAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593897978 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593898028 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593898104 |
TC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593898209 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593898563 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593898654 |
GT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593898689 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593898717 |
TTAGATA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593898992 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593899043 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593899478 |
AAGAGT>G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593899526 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593899837 |
GCAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593899885 |
G>TTACAA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593900255 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593900672 |
CTG>A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593900808 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593901067 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593901208 |
AATGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593901323 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593901403 |
AATTA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593902043 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593902131 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593902312 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593902621 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593902988 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593902999 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1593903006 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593903166 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593903272 |
AAGAC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593903422 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593903507 |
CTATT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593903595 |
TTAT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1593903728 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593903850 |
AG>T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593903909 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593904052 |
TTCA>- |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1593904133 |
T>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593904158 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593904263 |
->T |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1593904758 |
->GATACTTATTTAAGTAACAGTAGCATGTCTAACAGCTATTCCTACCATTCTGATGAGGTATATAA |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs1593904834 |
T>G |
Likely-pathogenic |
Stop gained, coding sequence variant |
| rs1593904901 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593905018 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593905291 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593905326 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593905386 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593905747 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593905968 |
GTAAT>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593905977 |
TAAGGAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593906137 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593906164 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593906350 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593906774 |
AA>TTT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593906797 |
TAGTATAG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1593906951 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593907194 |
A>- |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593907958 |
GT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1593908124 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593908171 |
ACAAAAT>TCC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593908459 |
ATTTAAATT>TTTA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593909229 |
CT>A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593909597 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593909892 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593909929 |
->AA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593909960 |
T>G |
Likely-pathogenic |
Splice donor variant |
| rs1593913171 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593913331 |
->GT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593918099 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593918565 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593919442 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593919707 |
AAAACATCCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593919830 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593919989 |
G>- |
Pathogenic |
Coding sequence variant, splice donor variant |
| rs1593920773 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593920920 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593920939 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593920945 |
CTGATGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593923877 |
->AG |
Pathogenic |
Splice acceptor variant |
| rs1593923900 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593924059 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593924144 |
GG>TT |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593924968 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593925106 |
C>AGCAATAAAACTAGTAGTGCAGCTGAAACT |
Pathogenic |
Stop gained, coding sequence variant |
| rs1593925596 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593930050 |
T>G |
Pathogenic |
Intron variant |
| rs1593930303 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593931185 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593934969 |
ATGCAGCAGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593935041 |
G>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant |
| rs1593936490 |
->GGGTTATTTCAGTGAAGAGCAGT |
Pathogenic |
Coding sequence variant, splice acceptor variant |
| rs1593936493 |
->GGTTATTTCAGTGAAGAGC |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
| rs1593936506 |
TTCAGTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593936593 |
->GT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593936782 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593936840 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593936898 |
->TTGC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593936980 |
GAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593937245 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593937297 |
TTGGCGT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1593937758 |
GGTACAAACCTT>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant, intron variant |
| rs1593938133 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |