| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs4988349 |
T>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs4988356 |
A>C |
Uncertain-significance, not-provided, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant |
|
rs28903098 |
G>C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs28997571 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant |
|
rs45437094 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs45459799 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance |
Stop gained, genic upstream transcript variant, missense variant, coding sequence variant |
|
rs45512093 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs45528833 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant |
|
rs45566938 |
C>A,G |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance |
Synonymous variant, genic upstream transcript variant, coding sequence variant |
|
rs45589637 |
C>A,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs45617634 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, genic upstream transcript variant, missense variant, coding sequence variant |
|
rs62620988 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs113697814 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, downstream transcript variant, synonymous variant, genic downstream transcript variant, missense variant |
|
rs137852985 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs137852986 |
G>A |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance |
3 prime UTR variant, coding sequence variant, stop gained, genic downstream transcript variant |
|
rs140233356 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Stop gained, coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant |
|
rs147119272 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs149364097 |
C>A,G,T |
Uncertain-significance, likely-pathogenic, not-provided, pathogenic |
Missense variant, genic upstream transcript variant, coding sequence variant |
|
rs149529390 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
3 prime UTR variant, missense variant, genic downstream transcript variant, coding sequence variant |
|
rs150313156 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, coding sequence variant |
|
rs200239986 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs201869624 |
G>A,C |
Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant, 3 prime UTR variant |
|
rs368796923 |
G>A |
Likely-pathogenic, pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs371185409 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs373040333 |
G>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs373104267 |
C>A,T |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant, missense variant |
|
rs552752779 |
A>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Genic upstream transcript variant, intron variant |
|
rs565458815 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs574552037 |
G>A,C |
Pathogenic, benign, likely-benign |
3 prime UTR variant, coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant |
|
rs575595017 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs587778134 |
AA>-,AAAA |
Not-provided, pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587778138 |
T>- |
Not-provided, pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs587780224 |
TG>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs587780226 |
G>A,T |
Pathogenic, likely-benign |
Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant |
|
rs587780228 |
C>A,G |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant, genic upstream transcript variant |
|
rs587780236 |
->A |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587780240 |
->A |
Likely-pathogenic |
Downstream transcript variant, splice donor variant, genic downstream transcript variant |
|
rs587780244 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant |
|
rs587780247 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant |
|
rs587780830 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs587780833 |
C>A,T |
Pathogenic, likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs587780875 |
A>C,G |
Pathogenic, benign, likely-benign |
Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant |
|
rs587781292 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant, genic upstream transcript variant |
|
rs587781321 |
G>A,T |
Pathogenic, uncertain-significance |
5 prime UTR variant, coding sequence variant, stop gained, intron variant, genic upstream transcript variant, upstream transcript variant, missense variant |
|
rs587781416 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, genic upstream transcript variant |
|
rs587781639 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs587781644 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant |
|
rs587781655 |
C>T |
Pathogenic-likely-pathogenic, likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs587781786 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, intron variant, genic upstream transcript variant |
|
rs587781860 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs587781974 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, 3 prime UTR variant, genic downstream transcript variant |
|
rs587781985 |
->C |
Pathogenic, likely-pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant, intron variant, genic upstream transcript variant, upstream transcript variant |
|
rs587782047 |
C>A,T |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs587782065 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs587782131 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, genic upstream transcript variant |
|
rs587782410 |
A>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, downstream transcript variant, genic downstream transcript variant |
|
rs587782514 |
A>C,G |
Pathogenic, likely-benign |
Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant |
|
rs587782539 |
C>T |
Pathogenic, pathogenic-likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs587782574 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs587782679 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, downstream transcript variant, genic downstream transcript variant |
|
rs587782726 |
ATTG>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs587783377 |
AG>T |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs730881633 |
G>A,C |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant, genic upstream transcript variant |
|
rs730881635 |
T>A,C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant, genic upstream transcript variant |
|
rs730881645 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs730881647 |
->CACA |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs730881649 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs747604569 |
G>A,T |
Pathogenic, likely-pathogenic, likely-benign |
Coding sequence variant, stop gained, intron variant, synonymous variant, genic upstream transcript variant |
|
rs748274524 |
C>A,G,T |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs748598593 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs749762964 |
T>- |
Pathogenic |
Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant |
|
rs752309409 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs752411477 |
A>G,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant |
|
rs752780954 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, downstream transcript variant, genic downstream transcript variant |
|
rs753023295 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant |
|
rs753683450 |
->T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs754270436 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign |
Genic upstream transcript variant, 5 prime UTR variant |
|
rs756853672 |
G>- |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs759031349 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs760551339 |
GGAT>- |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant |
|
rs760782298 |
C>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant |
|
rs761405340 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs761452695 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs761639530 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, stop gained, missense variant, genic downstream transcript variant, downstream transcript variant |
|
rs762701532 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, intron variant, missense variant, genic upstream transcript variant |
|
rs763009188 |
TTGT>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs763443434 |
->GTCAAGCT |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs763818712 |
->T |
Pathogenic |
Coding sequence variant, intron variant, upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs764406913 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant |
|
rs764803896 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs765154059 |
T>A,C |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic upstream transcript variant |
|
rs766516963 |
C>G,T |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant, upstream transcript variant |
|
rs767666616 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, synonymous variant, downstream transcript variant, coding sequence variant |
|
rs768736851 |
TTAAG>- |
Pathogenic, likely-pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs771028677 |
TGTT>-,TGTTTGTT |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs771654971 |
->T |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs773639563 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs774684620 |
T>-,TT |
Pathogenic, pathogenic-likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs775171520 |
C>A,T |
Uncertain-significance, pathogenic, likely-pathogenic |
Stop gained, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs775537066 |
->A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs775735278 |
T>-,TT |
Pathogenic, likely-pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs775755739 |
A>C,G |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs777068696 |
C>A,T |
Uncertain-significance, likely-pathogenic |
5 prime UTR variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs777213170 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Genic downstream transcript variant, stop gained, missense variant, coding sequence variant |
|
rs777217004 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant |
|
rs777367075 |
->A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs778664039 |
AGAT>- |
Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs779466229 |
A>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs779741278 |
->A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs780020495 |
G>A |
Pathogenic, likely-pathogenic |
Upstream transcript variant, stop gained, genic upstream transcript variant, coding sequence variant |
|
rs786201701 |
C>T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs786201733 |
G>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained |
|
rs786201808 |
C>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained |
|
rs786202415 |
AACCGAAGCTGAACTTCTGTTA>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs786202610 |
T>- |
Likely-pathogenic, pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs786202760 |
C>A,G,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, intron variant |
|
rs786202927 |
T>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs786202941 |
C>A,G |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs786203384 |
T>GGA |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs786203429 |
TAT>AG |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant, intron variant |
|
rs786203451 |
C>G,T |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, intron variant, splice acceptor variant |
|
rs786203521 |
->T |
Likely-pathogenic, pathogenic |
Genic upstream transcript variant, coding sequence variant, intron variant, stop gained |
|
rs786203700 |
T>C |
Likely-pathogenic, pathogenic-likely-pathogenic |
Upstream transcript variant, genic upstream transcript variant, splice acceptor variant |
|
rs786203717 |
CTTT>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs786203890 |
C>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained |
|
rs786203898 |
G>A,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, downstream transcript variant |
|
rs786204250 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, 3 prime UTR variant |
|
rs863224525 |
T>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs864622166 |
A>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs864622236 |
T>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs864622277 |
C>A,G |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant |
|
rs864622611 |
CTTTT>- |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs869312762 |
C>- |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, splice acceptor variant |
|
rs869312763 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs876658270 |
A>C,G |
Uncertain-significance, pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, stop gained |
|
rs876659212 |
C>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant |
|
rs876659379 |
CTT>- |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, inframe deletion |
|
rs876659490 |
C>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs876659533 |
G>A |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs876659707 |
T>A |
Likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant |
|
rs876660080 |
G>- |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant, intron variant |
|
rs876660100 |
TCAGGATCAT>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs876660125 |
C>A,G,T |
Uncertain-significance, pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant, stop gained |
|
rs876660203 |
C>A,T |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant, downstream transcript variant |
|
rs876660219 |
GACAA>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs876660613 |
A>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs876660769 |
A>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs876660880 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs876660891 |
T>C,G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, intron variant, synonymous variant |
|
rs876660937 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Genic upstream transcript variant, missense variant, synonymous variant, coding sequence variant, intron variant |
|
rs876661141 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant |
|
rs876661246 |
TA>- |
Uncertain-significance, likely-pathogenic |
Genic upstream transcript variant, frameshift variant, initiator codon variant, 5 prime UTR variant |
|
rs878855134 |
->AG |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs878855140 |
->GTTGTTGAAATATCAATTTGATATA |
Pathogenic |
Genic upstream transcript variant, upstream transcript variant, stop gained, inframe insertion, coding sequence variant |
|
rs878855143 |
T>C,G |
Likely-pathogenic |
Genic downstream transcript variant, intron variant, splice acceptor variant |
|
rs878855145 |
A>C |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs878855151 |
TT>- |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs878855159 |
->A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs886041147 |
T>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant |
|
rs1008150951 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs1028347439 |
G>A |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1057517643 |
A>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1057517648 |
C>- |
Likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, splice donor variant |
|
rs1057519365 |
TT>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant |
|
rs1057520058 |
TT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs1057520255 |
G>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, genic upstream transcript variant, synonymous variant |
|
rs1060501739 |
G>A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
|
rs1060501740 |
G>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs1060501757 |
C>A |
Likely-pathogenic |
Splice acceptor variant, upstream transcript variant, genic upstream transcript variant |
|
rs1060501763 |
A>C |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs1060501765 |
T>A,C |
Pathogenic, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, missense variant, stop gained |
|
rs1060501766 |
G>A,C |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, missense variant, coding sequence variant, 3 prime UTR variant, stop gained |
|
rs1060501772 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1060501774 |
C>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1060501778 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1060501779 |
G>-,GG |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1064793626 |
G>- |
Pathogenic |
Intron variant, upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant |
|
rs1064793812 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1064793887 |
C>T |
Likely-pathogenic, pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1064794202 |
ACAA>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1064794668 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1064794689 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1064794890 |
T>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant |
|
rs1064795352 |
C>A,T |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, missense variant, coding sequence variant, 3 prime UTR variant, stop gained |
|
rs1064795413 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1064795649 |
CT>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1064795698 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant |
|
rs1219435870 |
C>T |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant |
|
rs1226658018 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, genic upstream transcript variant |
|
rs1257401983 |
G>C |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1260994999 |
CA>- |
Pathogenic |
Frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs1292988272 |
C>- |
Likely-pathogenic, pathogenic |
Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1295703239 |
AGAT>-,AGATAGAT |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant |
|
rs1304655615 |
G>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1310861578 |
->TAC |
Pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1339743866 |
->T |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1342519012 |
C>- |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1356014648 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, genic upstream transcript variant, stop gained, upstream transcript variant, coding sequence variant |
|
rs1368457771 |
C>G,T |
Likely-pathogenic |
Splice acceptor variant, intron variant, genic upstream transcript variant, upstream transcript variant |
|
rs1400202829 |
CAAAA>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1420431000 |
A>C |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1436085018 |
A>C |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1437158047 |
C>G,T |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1442433909 |
T>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, genic upstream transcript variant |
|
rs1457869893 |
->A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, intron variant |
|
rs1483527885 |
->A |
Pathogenic |
Frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs1555572698 |
C>A |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555572799 |
ACTGTCA>GAG |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555573327 |
G>- |
Pathogenic |
Frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs1555573386 |
A>- |
Pathogenic |
Frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs1555573497 |
C>T |
Pathogenic |
Stop gained, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant |
|
rs1555574711 |
->A |
Uncertain-significance, likely-pathogenic |
Splice donor variant, intron variant, genic downstream transcript variant |
|
rs1555574788 |
AG>- |
Pathogenic |
Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs1555574796 |
CC>-,CCC |
Pathogenic |
Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs1555574803 |
C>T |
Pathogenic |
Intron variant, stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555580769 |
T>- |
Pathogenic |
Frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs1555580957 |
GTA>CAAAT |
Pathogenic |
Frameshift variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant |
|
rs1555590286 |
C>A,T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555590388 |
->T |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555590521 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555591308 |
TCTC>-,TC |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555591361 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555591365 |
G>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555591385 |
->A |
Likely-pathogenic, pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555601064 |
C>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555601094 |
A>GG |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555601203 |
C>T |
Pathogenic |
Intron variant, stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555601204 |
C>G,T |
Likely-pathogenic |
Intron variant, splice acceptor variant, genic downstream transcript variant |
|
rs1555602127 |
AT>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant |
|
rs1555602154 |
T>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant |
|
rs1555602638 |
->TTTAT |
Pathogenic |
Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
|
rs1555603622 |
->A |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555603635 |
CTATAAGAAATTACC>- |
Likely-pathogenic |
Intron variant, splice acceptor variant, genic upstream transcript variant, coding sequence variant |
|
rs1555603638 |
C>T |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant |
|
rs1555605866 |
A>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555605902 |
C>A,G |
Uncertain-significance, pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1555605955 |
C>A |
Likely-pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1555607022 |
C>T |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1555607070 |
T>A,C |
Uncertain-significance, pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1555607628 |
C>T |
Likely-pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1555607749 |
C>T |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1555607759 |
->T |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555607792 |
AATA>- |
Likely-pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555609116 |
G>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555609121 |
->T |
Likely-pathogenic, pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555609162 |
G>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555609191 |
A>- |
Likely-pathogenic, pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555609214 |
->T |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555609254 |
->A |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555609298 |
->A |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555609402 |
GGCTGTA>- |
Likely-pathogenic |
Intron variant, splice acceptor variant, genic upstream transcript variant, coding sequence variant |
|
rs1555615743 |
AG>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555615763 |
G>A,C |
Uncertain-significance, likely-pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1555615784 |
C>A |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1555616143 |
TTCTT>- |
Likely-pathogenic, pathogenic |
Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant |
|
rs1555616150 |
T>- |
Pathogenic |
Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant |
|
rs1555616176 |
T>- |
Pathogenic |
Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant |
|
rs1555616185 |
CTGTTTCTTA>TTT |
Pathogenic |
Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant |
|
rs1555616206 |
AGTGG>- |
Pathogenic |
Frameshift variant, intron variant, genic upstream transcript variant, coding sequence variant |
|
rs1555617829 |
G>C |
Pathogenic |
Genic upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant |
|
rs1555617834 |
C>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant |
|
rs1555617925 |
T>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
|
rs1555617934 |
C>A |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant, upstream transcript variant |
|
rs1555618374 |
->AA |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555618375 |
A>GAG |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555618396 |
->GAACAAAGTAAGGCTAAGCTTTTTCCACTTCCTGTGGGACTCTCCAACAAACAATGTTGCTTGCTGTTTAATCCTCTGAGAATCTATGAACA |
Pathogenic |
Intron variant, splice acceptor variant, genic upstream transcript variant, coding sequence variant |
|
rs1555618709 |
->A |
Likely-pathogenic, pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555618716 |
->G |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555618727 |
T>A |
Likely-pathogenic, pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1555618738 |
C>T |
Likely-pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1567729445 |
AACT>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1567731917 |
G>- |
Pathogenic |
Frameshift variant, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant |
|
rs1567737536 |
C>T |
Likely-pathogenic |
Splice donor variant, intron variant, genic downstream transcript variant |
|
rs1567755539 |
C>G |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant, downstream transcript variant |
|
rs1567756032 |
C>T |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1567779336 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs1567781169 |
->C |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1567781516 |
C>T |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1567781543 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1567809140 |
C>- |
Pathogenic |
Intron variant, splice acceptor variant, genic downstream transcript variant, coding sequence variant |
|
rs1567812616 |
C>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant |
|
rs1567813223 |
A>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant |
|
rs1567816997 |
C>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1567831477 |
->GT |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1567831649 |
CAGCATCTTGTATTAG>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1567838174 |
C>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1567838246 |
T>- |
Likely-pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1567868477 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant |
|
rs1567868785 |
T>C |
Likely-pathogenic |
Splice acceptor variant, intron variant, genic upstream transcript variant |
|
rs1567874485 |
->TGCC |
Pathogenic |
Initiator codon variant, frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1567874779 |
T>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1567878148 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1567878234 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1603275179 |
CT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1603275367 |
->TCTTTAATGATGAAATAATG |
Likely-pathogenic |
Inframe indel, coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1603275598 |
->A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1603275616 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1603275707 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1603275716 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
|
rs1603276502 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, downstream transcript variant, splice donor variant |
|
rs1603276728 |
->G |
Pathogenic |
Downstream transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1603277005 |
->GTAC |
Pathogenic |
Frameshift variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant |
|
rs1603280507 |
ATCCACTAGAATAAGA>GG |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic downstream transcript variant |
|
rs1603280621 |
T>C |
Likely-pathogenic |
Splice acceptor variant, intron variant, genic downstream transcript variant |
|
rs1603293306 |
CTTACC>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, splice donor variant, intron variant, downstream transcript variant |
|
rs1603293314 |
C>- |
Likely-pathogenic |
Genic downstream transcript variant, downstream transcript variant, coding sequence variant, splice donor variant |
|
rs1603328466 |
CA>- |
Pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1603328667 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1603328780 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, intron variant, genic downstream transcript variant |
|
rs1603328816 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic downstream transcript variant |
|
rs1603334758 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant |
|
rs1603336895 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1603336897 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1603336980 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1603337052 |
T>C |
Likely-pathogenic |
Splice acceptor variant, genic upstream transcript variant |
|
rs1603340281 |
TGGG>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1603342258 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1603342313 |
->A |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1603342316 |
G>C |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs1603342339 |
GTTCTTTC>TAT |
Pathogenic |
Inframe indel, coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1603343101 |
T>- |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1603343235 |
->TATG |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1603346587 |
A>G |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs1603346857 |
->ATATTTT |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1603346983 |
T>A |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1603347042 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1603347058 |
CAGGGGGC>- |
Pathogenic |
Coding sequence variant, splice acceptor variant, genic upstream transcript variant |
|
rs1603361558 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1603361570 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1603361577 |
T>- |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1603361587 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1603361705 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1603362580 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant |
|
rs1603362622 |
G>C |
Pathogenic |
Stop gained, coding sequence variant, intron variant, genic upstream transcript variant |
|
rs1603362725 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant |
|
rs1603366250 |
CTTGGATAGTTGAAATG>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs1603366351 |
G>C |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1603367647 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1603367649 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1603367673 |
TAAG>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1603367753 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1603368431 |
G>C |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs1603368490 |
TTGAA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |