| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28934904 |
G>A,C,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs28934905 |
A>C,G |
Not-provided, pathogenic, uncertain-significance |
Coding sequence variant, intron variant, missense variant |
|
rs28934906 |
G>A |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs28934907 |
G>A,C |
Pathogenic, uncertain-significance, pathogenic-likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs28934908 |
G>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs28935168 |
G>C |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs28935468 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs56268439 |
C>A,T |
Pathogenic, benign, benign-likely-benign |
Coding sequence variant, stop gained, missense variant |
|
rs61748385 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, 5 prime UTR variant |
|
rs61748389 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs61748390 |
G>A,C |
Pathogenic, uncertain-significance, pathogenic-likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs61748391 |
T>C |
Pathogenic, uncertain-significance |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs61748392 |
T>C |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs61748393 |
C>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61748394 |
->T |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs61748396 |
G>C,T |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs61748398 |
->A |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61748399 |
T>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs61748400 |
T>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61748402 |
C>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs61748403 |
T>C |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs61748404 |
G>C,T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, intron variant, missense variant |
|
rs61748408 |
G>A,C,T |
Not-provided, pathogenic, likely-pathogenic |
Coding sequence variant, synonymous variant, intron variant, missense variant |
|
rs61748411 |
T>C |
Pathogenic, uncertain-significance |
Coding sequence variant, intron variant, missense variant |
|
rs61748415 |
A>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs61748418 |
C>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs61748420 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic, pathogenic |
Coding sequence variant, synonymous variant, intron variant, missense variant |
|
rs61748421 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, intron variant, synonymous variant |
|
rs61748425 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, intron variant, missense variant |
|
rs61748427 |
G>A,C,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs61748428 |
T>A |
Pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs61749702 |
T>A,C |
Pathogenic |
Coding sequence variant, stop gained, intron variant, missense variant |
|
rs61749703 |
T>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs61749707 |
C>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61749708 |
C>-,CC |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61749709 |
->T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61749715 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs61749717 |
T>A,G |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, synonymous variant |
|
rs61749718 |
T>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs61749721 |
G>A |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, stop gained |
|
rs61749723 |
G>A,C,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs61749724 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, missense variant |
|
rs61749726 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, missense variant |
|
rs61749727 |
C>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61749728 |
->A |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61749729 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs61749734 |
TTCC>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61749736 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61749739 |
G>A,T |
Pathogenic, benign, benign-likely-benign |
Coding sequence variant, stop gained, missense variant |
|
rs61749741 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61749743 |
C>-,CC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61749744 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61749747 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs61749749 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61749750 |
C>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs61749751 |
G>-,GG,GGG |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
|
rs61749752 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61750225 |
GGGGCG>CGGCC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61750232 |
C>-,CC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61750235 |
->GCTTCCTG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61750238 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs61750240 |
G>A,C |
Not-provided, pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs61750241 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61750242 |
CCCGGCT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61750247 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61750251 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, synonymous variant |
|
rs61750256 |
CTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61750259 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs61751361 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61751362 |
G>A,C |
Pathogenic, pathogenic-likely-pathogenic, risk-factor |
Coding sequence variant, stop gained, missense variant |
|
rs61751364 |
CGGAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61751367 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs61751440 |
T>C,G |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs61751443 |
C>A,G,T |
Not-provided, pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
|
rs61751444 |
G>A |
Pathogenic, uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
|
rs61751445 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs61751449 |
G>A,C |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs61751450 |
G>A |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs61751456 |
TCTTCT>AAAGAGGAGAAGATGC,TCT |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant, inframe deletion |
|
rs61751457 |
C>-,CC |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant |
|
rs61752365 |
G>A,C |
Pathogenic |
Coding sequence variant, synonymous variant, missense variant |
|
rs61752372 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs61752375 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs61752387 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign |
Coding sequence variant, missense variant |
|
rs61752992 |
TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61753000 |
G>A,C,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Coding sequence variant, missense variant |
|
rs61753011 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61753014 |
G>A,C,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, missense variant |
|
rs61753016 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs61753965 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs61753971 |
C>T |
Likely-benign, pathogenic, benign |
Coding sequence variant, missense variant |
|
rs61753972 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61753979 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs61754419 |
AGCTCTCGGGCTCAGGTGGAGGTGGGGGCAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs61754420 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, intron variant |
|
rs61754421 |
C>A,G |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, 5 prime UTR variant, missense variant |
|
rs61754424 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs61754425 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs61754426 |
G>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61754427 |
C>- |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs61754428 |
ATCT>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61754430 |
->C |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61754431 |
->T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61754432 |
G>C,T |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs61754435 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, synonymous variant, 5 prime UTR variant |
|
rs61754436 |
CT>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61754437 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, missense variant |
|
rs61754438 |
C>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61754441 |
G>-,GG |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61754452 |
G>A |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs61754453 |
G>A,C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs61754455 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs61754456 |
->T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs61754457 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs61755761 |
G>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs62641234 |
T>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs62701461 |
TACG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs62931162 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs62952161 |
C>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs63009262 |
GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs63094662 |
C>A,G,T |
Pathogenic, benign, benign-likely-benign |
Coding sequence variant, stop gained, missense variant |
|
rs63259763 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs63260260 |
C>-,CC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs63583161 |
TGGGGGCAGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs63749008 |
->CTGACTTT |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs63749009 |
AGGCAGAAGC>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs63749010 |
TTCCGTGTCCAGC>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs63749012 |
CTGCCACCACACTCCCC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs63749023 |
CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs63749024 |
CTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs63749029 |
CTCTCGGGCTCAGGTGGAGGTGGGGGCAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs63749030 |
TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs63749038 |
CCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs63749064 |
GGGCAGCCGTCGCTCTCCAGTGAGC>CGGCCGCT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs63749065 |
CTGCGGCCGTGGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs63749748 |
TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs104894864 |
C>A |
Not-provided, pathogenic |
Coding sequence variant, stop gained |
|
rs138211345 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs140191561 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, synonymous variant, 5 prime UTR variant |
|
rs140258520 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs143876280 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs146107517 |
G>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Synonymous variant, 5 prime UTR variant, coding sequence variant |
|
rs179363900 |
G>C |
Pathogenic, uncertain-significance |
Intron variant, missense variant, coding sequence variant |
|
rs179363901 |
G>A |
Likely-pathogenic |
5 prime UTR variant, missense variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant |
|
rs193922677 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs193922679 |
T>A |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, stop gained |
|
rs199963992 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
3 prime UTR variant |
|
rs267608327 |
CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608329 |
GTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGG>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608332 |
GTGGGGG>-,G |
Not-provided, uncertain-significance, pathogenic |
Frameshift variant, inframe deletion, coding sequence variant |
|
rs267608333 |
GGTGGGGTCCTCGGAGCTCTCGGGCT>- |
Pathogenic, not-provided |
Frameshift variant, coding sequence variant |
|
rs267608339 |
GGG>-,G,GGGG |
Pathogenic, likely-pathogenic, not-provided, likely-benign |
Frameshift variant, inframe deletion, coding sequence variant |
|
rs267608340 |
GGGGCCTTTGGGG>-,GG |
Pathogenic, not-provided |
Frameshift variant, coding sequence variant |
|
rs267608343 |
GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGG>CCACCCCT,GGTGGGG |
Uncertain-significance, pathogenic |
Frameshift variant, inframe indel, coding sequence variant |
|
rs267608372 |
TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608373 |
TGGAGGTGGGGGCAGG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608382 |
AGGGGTGGGAGCAGTGGCACGGGGGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608387 |
G>A |
Uncertain-significance, pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs267608388 |
G>A |
Uncertain-significance, likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs267608409 |
A>T |
Pathogenic, not-provided |
Splice donor variant, intron variant, genic upstream transcript variant |
|
rs267608411 |
G>C |
Pathogenic, not-provided |
Intron variant |
|
rs267608412 |
T>C |
Pathogenic, not-provided |
Splice acceptor variant |
|
rs267608416 |
->T |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608417 |
->T |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608424 |
CTTTCTT>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608425 |
TT>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608426 |
TCTT>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608427 |
->T |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608428 |
CT>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608434 |
GG>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608438 |
G>A,C |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant, stop gained |
|
rs267608442 |
G>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608443 |
->G |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608444 |
TG>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608445 |
C>A |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained |
|
rs267608446 |
C>-,CC,CCC |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608449 |
TGG>- |
Pathogenic |
Inframe deletion, 5 prime UTR variant, coding sequence variant |
|
rs267608452 |
->T |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608455 |
C>T |
Uncertain-significance, pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs267608457 |
G>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608463 |
C>A,T |
Pathogenic, not-provided |
Splice donor variant |
|
rs267608464 |
T>A,C,G |
Pathogenic, not-provided |
Splice acceptor variant |
|
rs267608465 |
G>A,C,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Intron variant |
|
rs267608466 |
TGTGGGGAC>- |
Pathogenic, not-provided |
5 prime UTR variant, coding sequence variant, intron variant, splice acceptor variant |
|
rs267608469 |
G>A,C |
Pathogenic |
5 prime UTR variant, coding sequence variant, missense variant, stop gained |
|
rs267608475 |
A>G,T |
Uncertain-significance, pathogenic |
5 prime UTR variant, coding sequence variant, missense variant, stop gained |
|
rs267608476 |
C>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608482 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs267608483 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs267608485 |
C>- |
Pathogenic |
Coding sequence variant, intron variant, stop gained |
|
rs267608486 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs267608487 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs267608488 |
CC>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs267608489 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs267608495 |
T>A |
Pathogenic |
Coding sequence variant, intron variant, stop gained |
|
rs267608496 |
AG>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608503 |
->C |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608506 |
->T |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608507 |
TG>CT |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained |
|
rs267608510 |
CA>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs267608513 |
G>C,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs267608514 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608518 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608519 |
CCGGGGCGTTTGATCACCATGACCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608520 |
ATCACCAT>CAC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608521 |
G>AAGCTTCCTGA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608523 |
TGCC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608524 |
->GCCTCAGCTTTTCG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608525 |
G>A,C |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs267608526 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608529 |
TTTC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608530 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608531 |
T>-,TT |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608535 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608536 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608538 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608540 |
AGTACGGTCTCCTGCACAGATC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608541 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608543 |
AGTACGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608544 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608548 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608558 |
CGCTC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608559 |
GGCTCTTACAGGTCTTCAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608564 |
TGC>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs267608567 |
AGTGGTGGTGATGGTGGTGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608568 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608569 |
G>C,T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained |
|
rs267608571 |
ACGGGGGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608572 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
|
rs267608573 |
CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608574 |
TCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608576 |
TGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608577 |
CGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608578 |
CTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608579 |
GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGG>-,GG |
Uncertain-significance, pathogenic |
Frameshift variant, inframe deletion, coding sequence variant |
|
rs267608580 |
TCTCGGGCTCAGGTGGAGGTGGGGGCAGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608582 |
TGGAGGTGGGGGCAGGG>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs267608584 |
->AG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608585 |
AGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608586 |
CTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608587 |
TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608588 |
TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608589 |
GTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG>-,G |
Likely-pathogenic, not-provided |
Frameshift variant, inframe deletion, coding sequence variant |
|
rs267608590 |
GG>A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608591 |
TCTCGGGCTCAGGTGGAGGTGGGGGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608592 |
GTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608593 |
GAGCTCTCGGGCTCAGGTGGAGGTGGGGG>-,G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608596 |
GGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGG>T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608597 |
GG>TA |
Pathogenic |
Coding sequence variant, stop gained |
|
rs267608600 |
AGCTCTCGGGCTCAGGTGGAGGTGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608601 |
CTCAGGTGGAGGTGGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608603 |
CTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608606 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608607 |
CGGAGCTCTCGGGCTCAGGTGGAGGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608609 |
GGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608610 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608612 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608613 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608614 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608615 |
GCTCAAGTCCTGGGGCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608617 |
TCTGGGCATCTTCTCCTCTTTGCAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608624 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608625 |
TCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608627 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608633 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
|
rs267608634 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608637 |
CGTGTAAAGTCAGCTAACTCTCTC>- |
Pathogenic |
Inframe deletion, 3 prime UTR variant, stop lost, terminator codon variant |
|
rs267608638 |
TCTC>-,TCTCTC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs267608641 |
->TA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs369813305 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign |
Synonymous variant, coding sequence variant |
|
rs386134271 |
AGCTCTCGGGCTCAGGTGGAGGTGGGGGC>TGG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs398123566 |
GGCGGCGGC>-,GGC,GGCGGC,GGCGGCGGCGGC,GGCGGCGGCGGCGGC,GGCGGCGGCGGCGGCGGC |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign |
5 prime UTR variant, inframe deletion, upstream transcript variant, genic upstream transcript variant, inframe insertion, coding sequence variant |
|
rs587777421 |
C>A,T |
Risk-factor, uncertain-significance |
Missense variant, stop gained, coding sequence variant |
|
rs587783091 |
->GCTTTCGGCCCCG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783092 |
G>-,GG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783095 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587783132 |
T>A,C |
Likely-pathogenic, uncertain-significance, pathogenic |
Missense variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, initiator codon variant |
|
rs587783136 |
T>A |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
|
rs587783137 |
G>A |
Uncertain-significance, pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs587783140 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs587783744 |
TCC>-,TCCTCC,TCCTCCTCC |
Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, inframe deletion, upstream transcript variant, genic upstream transcript variant, inframe insertion, coding sequence variant |
|
rs727505391 |
T>C |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
|
rs781843758 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs782239416 |
C>T |
Benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs782461567 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs782619288 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, coding sequence variant, synonymous variant |
|
rs786205019 |
CTCTCGGGCTCAGGTGGAGGT>TGCTCAAGTCCTGGGGCTCAG |
Pathogenic |
Inframe indel, stop gained, coding sequence variant |
|
rs786205020 |
TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs786205021 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs786205022 |
TCTGCG>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs786205023 |
TGTT>CA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs786205025 |
->TTCC |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs786205027 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs786205028 |
CCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs786205030 |
CTTTC>AGTCTTTTTTTT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs786205031 |
GGATAGAAGACT>TGTG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs786205038 |
->CGGCG |
Pathogenic |
Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, frameshift variant, coding sequence variant |
|
rs786205040 |
G>TC |
Pathogenic |
Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, frameshift variant, coding sequence variant |
|
rs786205042 |
GCCTCCTCCTC>-,GCCTCCTCCTCGCCTCCTCCTC |
Pathogenic |
Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, frameshift variant, coding sequence variant |
|
rs786205043 |
GCCTCCTC>-,GCCTCCTCGCCTCCTC |
Pathogenic |
Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, frameshift variant, coding sequence variant |
|
rs786205045 |
G>A |
Pathogenic |
Genic upstream transcript variant, synonymous variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant |
|
rs786205047 |
TC>- |
Pathogenic |
Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, frameshift variant, coding sequence variant |
|
rs786205048 |
C>T |
Pathogenic |
Upstream transcript variant, splice donor variant, genic upstream transcript variant |
|
rs786205049 |
CA>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, intron variant, upstream transcript variant, 5 prime UTR variant, splice donor variant |
|
rs786205892 |
T>A |
Pathogenic |
Genic upstream transcript variant, initiator codon variant, intron variant, missense variant, 5 prime UTR variant |
|
rs786205895 |
T>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs797044732 |
T>C,G |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs797044733 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045692 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs797045693 |
GC>- |
Pathogenic |
Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, frameshift variant, coding sequence variant |
|
rs797045694 |
CTGGAGGTCCT>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs797045695 |
->ATCTTGA |
Pathogenic |
Initiator codon variant, frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs878853312 |
G>A |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs886041732 |
T>C |
Pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs1057517905 |
C>T |
Likely-pathogenic |
5 prime UTR variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant |
|
rs1057518568 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057518718 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs1057519216 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs1057519404 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057519543 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057522038 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1060499620 |
->CT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1060499621 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064792898 |
ACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064792899 |
GGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTC>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs1064793576 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064796513 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs1064796837 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064797047 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs1064797104 |
->TCAGCTTTTCGCTTCCTGCCGGGGC |
Pathogenic |
Coding sequence variant, stop gained, inframe indel |
|
rs1131691480 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1340029095 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs1557134378 |
GACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGC |
Pathogenic |
3 prime UTR variant, frameshift variant, genic downstream transcript variant, terminator codon variant, downstream transcript variant |
|
rs1557134481 |
GGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCG |
Pathogenic |
Stop lost, 3 prime UTR variant, genic downstream transcript variant, terminator codon variant, inframe indel, downstream transcript variant |
|
rs1557134621 |
CCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGT |
Pathogenic |
3 prime UTR variant, frameshift variant, genic downstream transcript variant, terminator codon variant, downstream transcript variant |
|
rs1557134716 |
AAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTG |
Pathogenic |
Stop lost, terminator codon variant, 3 prime UTR variant, inframe indel |
|
rs1557134720 |
AAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTG |
Pathogenic |
Terminator codon variant, 3 prime UTR variant, frameshift variant |
|
rs1557134770 |
ATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTC |
Pathogenic |
Terminator codon variant, 3 prime UTR variant, frameshift variant |
|
rs1557134779 |
TTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGA |
Pathogenic |
Stop lost, terminator codon variant, 3 prime UTR variant, inframe indel |
|
rs1557134784 |
GTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAG |
Pathogenic |
Stop lost, terminator codon variant, 3 prime UTR variant, inframe indel |
|
rs1557134792 |
TTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCT>- |
Likely-pathogenic |
Stop lost, terminator codon variant, 3 prime UTR variant, inframe deletion |
|
rs1557134819 |
GTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGG |
Pathogenic |
Stop lost, terminator codon variant, 3 prime UTR variant, inframe indel |
|
rs1557134858 |
GCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGG |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs1557134923 |
CTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557134999 |
G>C |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1557135004 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135016 |
TTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135039 |
CGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135076 |
CAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135091 |
CG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135110 |
CCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG>TGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACT |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
|
rs1557135125 |
TGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135128 |
AGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135137 |
CCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135140 |
CCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135197 |
ACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135208 |
AGTCCTGGGGCTCA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135212 |
TCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135213 |
TCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135218 |
AAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135225 |
CTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135251 |
GGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135268 |
GGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135285 |
GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135295 |
GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135299 |
GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135300 |
GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135314 |
GGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGG>- |
Pathogenic, not-provided |
Frameshift variant, coding sequence variant |
|
rs1557135315 |
GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135317 |
TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135338 |
TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135346 |
GTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT>A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135350 |
TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135353 |
TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGG>- |
Benign, pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135400 |
GGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTT>AC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135402 |
GGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCG>AC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135418 |
CGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135423 |
CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135426 |
TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135447 |
CGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135461 |
GGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGAC |
Pathogenic |
Intron variant, splice acceptor variant, initiator codon variant, inframe deletion, coding sequence variant, 5 prime UTR variant |
|
rs1557135499 |
GGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGAC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135516 |
AGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGG>GCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135541 |
TCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCC |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs1557135547 |
TCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs1557135571 |
CTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135575 |
CTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135596 |
CAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135622 |
GGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135631 |
TGGAGGTGGGGGCAGGGGTG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135664 |
GTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135666 |
GGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135670 |
TGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135728 |
GTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135734 |
AGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135788 |
CGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATG>GT |
Pathogenic |
Inframe indel, coding sequence variant |
|
rs1557135793 |
G>-,GG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135847 |
GTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCAC |
Pathogenic |
Initiator codon variant, inframe deletion, 5 prime UTR variant, coding sequence variant |
|
rs1557135851 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135893 |
GCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135901 |
TGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCA>GTGCACTTACAG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135907 |
CTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557135929 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557136013 |
GCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTT>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs1557136059 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557136089 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557136146 |
ACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557136332 |
G>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557136374 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557136493 |
CGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGCCTTGCCCCCTGGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557136523 |
->GGCGT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557136549 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1557136758 |
->T |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1557136818 |
C>T |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs1557136974 |
C>A |
Likely-pathogenic |
Intron variant, missense variant, coding sequence variant |
|
rs1557137042 |
C>A |
Likely-pathogenic |
Intron variant, missense variant, coding sequence variant |
|
rs1557137672 |
C>G |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs1557137675 |
GCGGCCAGA>- |
Pathogenic |
Inframe deletion, 5 prime UTR variant, coding sequence variant |
|
rs1557137745 |
C>A |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs1557137776 |
ACAT>- |
Pathogenic |
Initiator codon variant, 5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1557137871 |
->A |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1557137983 |
A>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1557150841 |
A>C |
Pathogenic |
Genic upstream transcript variant, upstream transcript variant, splice donor variant |
|
rs1557150846 |
->GCCTCCTCCTCCTCCTC |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant |
|
rs1569548274 |
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569548307 |
TCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG>CATCCCAGGACGCAGGTGGATCCGAGTCTGCTGCATAGACGGCCATTAGGTCCCAGGATGGAGCTGGATTCGAGCCTGCTGTGCTCCAAATGGTTACGGTGGTGAATTCTGTT |
Pathogenic |
Coding sequence variant, inframe indel, stop gained |
|
rs1569548314 |
AGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG>- |
Pathogenic |
Coding sequence variant, inframe deletion |
|
rs1569548376 |
TTCCC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569548428 |
GTGG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603307453 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603307859 |
TGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603307865 |
AGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603307876 |
AGGTGGGGGCAGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603308287 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603308957 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603308963 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603309190 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
|
rs1603309480 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs1603309620 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant, intron variant |
|
rs1603310755 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
|
rs1603310794 |
T>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs1603310863 |
TGCC>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
|
rs1603310867 |
CTTCT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
|
rs1603310910 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
|
rs1603341328 |
->GCCTCCTCCTCCTC |
Pathogenic |
Coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant |
|
rs1603341359 |
G>- |
Pathogenic |
Coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant |