| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs16260 |
C>A |
Risk-factor |
Upstream transcript variant |
| rs33935154 |
G>A,T |
Benign, pathogenic, benign-likely-benign, uncertain-significance |
5 prime UTR variant, missense variant, coding sequence variant |
| rs34507583 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs35572355 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign, uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
| rs35606263 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, missense variant, coding sequence variant |
| rs36087757 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, missense variant, coding sequence variant |
| rs61747631 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, missense variant, coding sequence variant |
| rs111662525 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
5 prime UTR variant, coding sequence variant, missense variant |
| rs113055163 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
| rs113583899 |
G>C |
Likely-pathogenic |
Intron variant, splice acceptor variant |
| rs116093741 |
A>G,T |
Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign |
5 prime UTR variant, coding sequence variant, missense variant |
| rs121964871 |
C>G |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
| rs121964872 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic |
Coding sequence variant, missense variant |
| rs121964873 |
G>A,T |
Likely-pathogenic, uncertain-significance, pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, missense variant |
| rs121964874 |
C>A,G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs121964875 |
G>A,C |
Uncertain-significance, pathogenic |
5 prime UTR variant, missense variant, coding sequence variant, stop gained |
| rs121964876 |
G>A,T |
Uncertain-significance, pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, missense variant |
| rs121964877 |
C>G,T |
Uncertain-significance, pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, missense variant |
| rs121964878 |
C>T |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
| rs142498771 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, 5 prime UTR variant, missense variant |
| rs142822590 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, likely-benign, benign-likely-benign |
Coding sequence variant, 5 prime UTR variant, missense variant |
| rs149127230 |
G>A,C,T |
Uncertain-significance, benign, likely-pathogenic, likely-benign, benign-likely-benign |
Coding sequence variant, stop gained, missense variant |
| rs187862045 |
C>G,T |
Likely-pathogenic, likely-benign, uncertain-significance |
Synonymous variant, missense variant, 5 prime UTR variant, coding sequence variant, intron variant |
| rs200894246 |
G>A |
Benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs200911775 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs201141645 |
A>C,G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, synonymous variant, 5 prime UTR variant |
| rs201223411 |
G>A |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
3 prime UTR variant |
| rs201511530 |
G>A,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, 5 prime UTR variant |
| rs201637081 |
A>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs267606712 |
G>A,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, synonymous variant, 5 prime UTR variant |
| rs372838203 |
G>A |
Likely-benign, not-provided, benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, 5 prime UTR variant |
| rs372989292 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs570930882 |
G>A,C |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, coding sequence variant, missense variant, 5 prime UTR variant |
| rs587776398 |
T>C,G |
Likely-benign, pathogenic |
Stop gained, synonymous variant, 5 prime UTR variant, coding sequence variant |
| rs587776399 |
T>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Missense variant, 5 prime UTR variant, coding sequence variant |
| rs587778174 |
T>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, 5 prime UTR variant, coding sequence variant |
| rs587780112 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, 5 prime UTR variant, coding sequence variant |
| rs587780113 |
G>A,C,T |
Pathogenic |
Splice donor variant |
| rs587780114 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs587780117 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, benign |
Missense variant, 5 prime UTR variant, coding sequence variant |
| rs587780118 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs587780119 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Missense variant, synonymous variant, coding sequence variant |
| rs587780537 |
G>A |
Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
| rs587780784 |
C>G,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, 5 prime UTR variant, coding sequence variant |
| rs587780787 |
G>A,T |
Pathogenic-likely-pathogenic, uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant |
| rs587781276 |
TG>- |
Pathogenic |
Inframe indel, stop gained, coding sequence variant |
| rs587781290 |
->A |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs587781919 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Splice donor variant |
| rs587782381 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, intron variant, coding sequence variant |
| rs587782549 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
| rs587782647 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, 5 prime UTR variant, coding sequence variant |
| rs587782750 |
C>T |
Likely-pathogenic, pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs587782757 |
CTT>- |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs587782798 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, intron variant |
| rs587782810 |
GTAA>- |
Uncertain-significance, likely-pathogenic |
Splice donor variant, intron variant, coding sequence variant |
| rs587783047 |
C>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs587783048 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs587783050 |
G>A,T |
Likely-pathogenic, pathogenic |
Synonymous variant, 5 prime UTR variant, coding sequence variant |
| rs730881653 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs730881663 |
C>A |
Likely-pathogenic, pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs746481984 |
C>G,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Missense variant, intron variant, coding sequence variant |
| rs747783435 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
| rs748086082 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, 5 prime UTR variant, coding sequence variant |
| rs750651204 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs754143182 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, 5 prime UTR variant, coding sequence variant |
| rs759380419 |
A>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs771085839 |
G>C |
Likely-pathogenic |
Splice acceptor variant |
| rs774761552 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs776805501 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, 5 prime UTR variant, intron variant, synonymous variant |
| rs776890776 |
A>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, intron variant, missense variant |
| rs778871891 |
G>C,T |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, missense variant |
| rs781317341 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, 5 prime UTR variant, synonymous variant |
| rs781409616 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
| rs781513008 |
G>A |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, 5 prime UTR variant, missense variant |
| rs781633588 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs786201045 |
AG>- |
Pathogenic |
Coding sequence variant, splice acceptor variant, 5 prime UTR variant |
| rs786201058 |
G>A,C,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, missense variant |
| rs786201463 |
C>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, 5 prime UTR variant, synonymous variant |
| rs786201861 |
G>A |
Uncertain-significance, likely-pathogenic |
Intron variant |
| rs786202033 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs786202151 |
T>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
| rs786202290 |
G>A |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs786202712 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
| rs786202785 |
G>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs786202817 |
T>C |
Likely-pathogenic |
Splice donor variant |
| rs786203089 |
TAAGGG>- |
Pathogenic, likely-pathogenic |
Splice donor variant, intron variant, coding sequence variant |
| rs786203576 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant |
| rs786203752 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs864622655 |
A>- |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
| rs869312765 |
G>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs876658261 |
CGAGGAC>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs876658575 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs876658865 |
CCC>T |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs876658932 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, 5 prime UTR variant, coding sequence variant |
| rs876658944 |
T>A,C |
Pathogenic, likely-benign |
Synonymous variant, stop gained, coding sequence variant |
| rs876659208 |
AG>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs876659446 |
G>- |
Pathogenic |
Splice donor variant, 5 prime UTR variant, coding sequence variant |
| rs876659503 |
G>A,C,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, 5 prime UTR variant, coding sequence variant |
| rs876659716 |
T>A,C |
Pathogenic, likely-benign |
Stop gained, synonymous variant, intron variant, coding sequence variant |
| rs876660393 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
| rs876660771 |
G>A |
Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic |
Splice donor variant |
| rs876661091 |
G>A |
Likely-pathogenic, uncertain-significance |
Missense variant, 5 prime UTR variant, coding sequence variant |
| rs876661106 |
A>G,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Missense variant, stop gained, 5 prime UTR variant, coding sequence variant |
| rs876661107 |
G>A |
Likely-pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs876661118 |
->C |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs876661120 |
T>C |
Pathogenic |
Splice donor variant |
| rs878854690 |
G>-,GG |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs878854691 |
G>A |
Pathogenic |
Missense variant, initiator codon variant, 5 prime UTR variant |
| rs878854697 |
G>A,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs886037822 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant |
| rs886039590 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Missense variant, stop gained, intron variant, coding sequence variant |
| rs886039612 |
CTAC>- |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs886039685 |
G>C |
Pathogenic |
Splice donor variant, 5 prime UTR variant, intron variant |
| rs886041161 |
G>A,C |
Pathogenic, likely-pathogenic |
Splice donor variant, intron variant |
| rs971882211 |
G>C,T |
Uncertain-significance, pathogenic-likely-pathogenic |
5 prime UTR variant, coding sequence variant, stop gained, missense variant |
| rs1057517542 |
G>A |
Likely-pathogenic, pathogenic-likely-pathogenic |
Splice acceptor variant |
| rs1057522088 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs1060501214 |
TC>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1060501215 |
C>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1060501224 |
AC>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1060501226 |
A>G |
Pathogenic |
Splice acceptor variant |
| rs1060501229 |
A>G |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, coding sequence variant, synonymous variant |
| rs1060501237 |
T>C |
Likely-pathogenic |
Splice donor variant |
| rs1060501244 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
| rs1060501248 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1064794230 |
C>A,G |
Uncertain-significance, pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant, missense variant |
| rs1064795267 |
G>- |
Pathogenic |
Splice donor variant |
| rs1064795703 |
C>- |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1131690808 |
G>A,T |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs1131690809 |
T>- |
Likely-pathogenic, pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1131690810 |
C>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1131690811 |
->TA |
Pathogenic |
Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant |
| rs1131690812 |
C>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1131690813 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs1131690815 |
CAGAAGA>-,CAGAAGACAGAAGA |
Likely-pathogenic, pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1131690817 |
->G |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1131690818 |
G>A |
Pathogenic |
Intron variant |
| rs1131690819 |
T>- |
Likely-pathogenic, pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1131690820 |
A>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1131690821 |
A>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1131690822 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1375617541 |
C>-,CC |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
| rs1385720097 |
G>C,T |
Likely-pathogenic |
Splice acceptor variant |
| rs1440280370 |
G>A,T |
Pathogenic |
Splice donor variant |
| rs1555509622 |
A>G |
Pathogenic |
Missense variant, initiator codon variant, 5 prime UTR variant |
| rs1555509623 |
T>C,G |
Pathogenic |
Missense variant, initiator codon variant, 5 prime UTR variant |
| rs1555509636 |
G>A |
Likely-pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555509646 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, missense variant, 5 prime UTR variant, coding sequence variant |
| rs1555514406 |
->T |
Pathogenic, likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555514429 |
G>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555514464 |
G>A |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555514492 |
C>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555515197 |
TC>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555515210 |
AGAAGAGAGAC>- |
Pathogenic, likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555515214 |
AAGA>- |
Pathogenic, likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555515215 |
G>A |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555515217 |
CATCAGC>AGAATA |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555515232 |
C>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555515264 |
->T |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555515284 |
C>- |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555515296 |
GT>- |
Pathogenic |
Splice donor variant, 5 prime UTR variant, coding sequence variant |
| rs1555515297 |
T>C |
Likely-pathogenic |
Splice donor variant |
| rs1555515445 |
G>C,T |
Pathogenic, uncertain-significance |
Missense variant, 5 prime UTR variant, coding sequence variant |
| rs1555515596 |
A>G |
Pathogenic |
Splice acceptor variant |
| rs1555515721 |
->TG |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555515726 |
C>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555515731 |
T>- |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
| rs1555515739 |
T>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555515863 |
G>- |
Likely-pathogenic |
Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant |
| rs1555515920 |
A>- |
Likely-pathogenic |
Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant |
| rs1555515925 |
G>T |
Pathogenic |
Missense variant, intron variant, 5 prime UTR variant, coding sequence variant |
| rs1555516089 |
G>- |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555516111 |
G>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555516137 |
T>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555516191 |
AACAGAAAATAACGTAAGTGTGAGGATTTTTCAACTGACTTGCAGCAACTGG>- |
Likely-pathogenic |
Initiator codon variant, coding sequence variant, splice donor variant, intron variant, 5 prime UTR variant |
| rs1555516200 |
->T,TT |
Pathogenic, pathogenic-likely-pathogenic |
Splice donor variant |
| rs1555516520 |
A>G |
Likely-pathogenic |
Intron variant, splice acceptor variant |
| rs1555516532 |
->T |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
| rs1555516535 |
->C |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
| rs1555516545 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
| rs1555516556 |
G>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
| rs1555516567 |
->C |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
| rs1555516821 |
->C |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555516896 |
CA>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555517074 |
AT>-,ATAT |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
| rs1555517099 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
| rs1555517100 |
->C |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1555517136 |
T>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1555517153 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555517680 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555517889 |
GGTATCTTCCCCGCCCTGCC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1555518210 |
A>G |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs1555518211 |
A>G,T |
Likely-pathogenic, uncertain-significance |
Missense variant, stop gained, coding sequence variant |
| rs1555518221 |
C>-,CC |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1555518239 |
G>T |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
| rs1567471351 |
CTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGT>- |
Pathogenic |
Splice donor variant, coding sequence variant, 5 prime UTR variant, splice acceptor variant |
| rs1567501500 |
->CCGCCCC |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1567504575 |
A>T |
Pathogenic |
Stop gained, coding sequence variant, 5 prime UTR variant |
| rs1567504977 |
G>A |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs1567506511 |
TCTTCCAGGAAC>- |
Likely-pathogenic |
Intron variant, coding sequence variant, 5 prime UTR variant, splice acceptor variant |
| rs1567507138 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1567507724 |
C>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1567507825 |
->GT |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1567508847 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1567508939 |
TG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1567512585 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, 5 prime UTR variant |
| rs1567512631 |
G>A |
Likely-pathogenic, uncertain-significance |
Intron variant |
| rs1567513227 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1567516230 |
G>T |
Likely-pathogenic |
Splice donor variant |
| rs1596960368 |
G>A |
Pathogenic |
Intron variant, coding sequence variant, stop gained |
| rs1596960393 |
T>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
| rs1596963500 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, 5 prime UTR variant |
| rs1596963827 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1596965628 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1596970624 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
| rs1596970676 |
TGTTTCTTCGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1596970988 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1596971108 |
G>C |
Likely-pathogenic |
Splice donor variant |
| rs1596976114 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1596976243 |
->A |
Likely-pathogenic |
Coding sequence variant, stop gained |
| rs1597884512 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
| rs1597884637 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1597890755 |
T>A |
Pathogenic |
Splice donor variant |
| rs1597890963 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1597891145 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1597893910 |
G>A |
Pathogenic |
Splice acceptor variant |
| rs1597894239 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1597894632 |
G>C |
Likely-pathogenic |
Splice acceptor variant |
| rs1597895871 |
C>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1597897893 |
TC>- |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
| rs1597897917 |
TCACCACCTCCAC>AAA |
Pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |