| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs587782991 |
TCT>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs587782992 |
TC>-,TCTC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs587782993 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs587782994 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs587782995 |
T>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs587782996 |
C>G,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
|
rs587782997 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs587782998 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs587782999 |
G>A,C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs587783000 |
TCG>- |
Pathogenic |
Coding sequence variant, inframe indel |
|
rs587783001 |
G>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs786204833 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs786204834 |
A>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs786204835 |
TTC>- |
Pathogenic |
Coding sequence variant, inframe deletion |
|
rs793888527 |
T>C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs793888530 |
A>G,T |
Pathogenic |
Missense variant, initiator codon variant |
|
rs793888531 |
T>C,G |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs793888533 |
CTCTCTCCA>- |
Pathogenic |
Coding sequence variant, inframe deletion |
|
rs793888537 |
GCGGA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs793888538 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs793888539 |
G>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs797044866 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs797044944 |
CACCCTGCTACTGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs879255390 |
TCCGCCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886039610 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs886039899 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs886041600 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886041754 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886041894 |
GCTGGGTTCGGGCGGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886042017 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886042229 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1057524051 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057524637 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1064793665 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064793761 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064795164 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064795165 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064795428 |
ATC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs1064795465 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064795567 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064795621 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064796409 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064796830 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307472 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1085307826 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1554128999 |
GACCG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554129000 |
ACAGCGGCAGCG>C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554129008 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554129023 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554129039 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554129040 |
->G |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554129045 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554129049 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1554129050 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1554129064 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554129069 |
->GC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554129086 |
A>C,G |
Likely-benign, likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
|
rs1554129089 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554129091 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554129096 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1554129099 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1554129100 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1554129113 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1554129114 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554129116 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554129118 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1561792945 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1561793115 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1561793211 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1561793219 |
->AGGACGAGCCGCGC |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1561793268 |
->GCCG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1561793336 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1561793344 |
GACGACT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1581036001 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036015 |
->GGGTTCGGGCGGCTCC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036040 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036051 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036073 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036115 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036164 |
->CCCCAGGG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036262 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036297 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036318 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1581036360 |
AGGACGAGCCGCGCCGGGCGCTCAAAAGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036383 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036396 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1581036405 |
GCGAGAAC>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036424 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1581036474 |
->TGGCCTGGGCTCCACGCAGGGC |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1581036496 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1581036537 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1581036558 |
G>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |