| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs387907253 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs387907254 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs387907255 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs398122869 |
TC>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs398122870 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs398122871 |
CTCTC>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs398122872 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs398122873 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs398122874 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs398122875 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs398122876 |
G>A,T |
Pathogenic |
Splice donor variant |
|
rs587779381 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
|
rs786205515 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs797044911 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797045056 |
->AGATC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045737 |
GAGCCCCCGGGCCACAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045738 |
AA>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs886039698 |
ATGCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041304 |
C>-,CC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041422 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886041432 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041647 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041792 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886041828 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057517936 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057518152 |
G>A |
Pathogenic |
Splice donor variant |
|
rs1064796288 |
GG>C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307714 |
G>- |
Pathogenic |
Coding sequence variant, splice acceptor variant |
|
rs1135401802 |
G>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs1555696499 |
G>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1555696536 |
->TC |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555696587 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555696597 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555696603 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555696606 |
G>A,C |
Likely-pathogenic, likely-benign |
Coding sequence variant, synonymous variant |
|
rs1555696611 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555696625 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1555696641 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555696660 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555705276 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1555705733 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555707363 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1568268397 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
|
rs1568269273 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1568318540 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1568318932 |
T>C,G |
Likely-pathogenic |
Splice donor variant |
|
rs1599737421 |
->TTCATCG |
Pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs1599737896 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1599738036 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1599738349 |
CCAGAAGGGCAAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1599738398 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1599738608 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1599844887 |
ACCTCCCCTCCTTC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1599848690 |
GTGGCCCAACG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1599855670 |
AG>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
|
rs1599862139 |
->CCAGCAG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1599862357 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |