SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs179489 |
G>A,C |
Not-provided, pathogenic |
Missense variant, coding sequence variant |
rs1800171 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Synonymous variant, coding sequence variant |
rs12720457 |
G>T |
Benign, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs12720458 |
A>G |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs12720459 |
C>A,G,T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs17215500 |
C>G,T |
Pathogenic, uncertain-significance, not-provided, likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
rs17221854 |
C>T |
Risk-factor, pathogenic, not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs74462309 |
A>C,G,T |
Pathogenic, not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs76735093 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs76737438 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs104894252 |
G>A,C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs104894255 |
G>A,C,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs120074177 |
G>A,C |
Likely-pathogenic, not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074178 |
G>A,C,T |
Likely-pathogenic, uncertain-significance, not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074179 |
G>A,C,T |
Likely-pathogenic, not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074180 |
C>G,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074181 |
G>A,C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074182 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074183 |
G>A |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074184 |
G>A,C,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074185 |
C>A,T |
Likely-pathogenic, not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074186 |
G>A,C,T |
Likely-pathogenic, not-provided, pathogenic |
Coding sequence variant, stop gained, missense variant |
rs120074187 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs120074188 |
G>A |
Likely-pathogenic, not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074189 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074190 |
G>A |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074191 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
rs120074192 |
A>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074193 |
G>A,C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074194 |
G>A,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074195 |
G>A,C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs120074196 |
G>A,C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs138362632 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs138551008 |
C>A,T |
Likely-benign, pathogenic |
Coding sequence variant, stop gained, synonymous variant |
rs139042529 |
C>A,G,T |
Likely-benign, benign, pathogenic |
Coding sequence variant, stop gained, synonymous variant |
rs140452381 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided |
Coding sequence variant, missense variant |
rs145229963 |
G>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
rs149089817 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs151344631 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs181106858 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
rs193922365 |
C>A,T |
Uncertain-significance, pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472677 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, genic upstream transcript variant |
rs199472678 |
A>G |
Pathogenic, not-provided |
Coding sequence variant, missense variant, genic upstream transcript variant |
rs199472681 |
G>A |
Pathogenic, not-provided |
Coding sequence variant, missense variant, genic upstream transcript variant |
rs199472685 |
T>C |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472687 |
G>A |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472696 |
C>T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472697 |
G>A,C,T |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472698 |
G>A,C |
Uncertain-significance, pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472700 |
A>G |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472702 |
G>A,C |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472705 |
T>C |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472706 |
C>T |
Likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472708 |
G>A |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472709 |
G>A,T |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472710 |
T>A |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472712 |
G>A,T |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472713 |
C>A,T |
Uncertain-significance, not-provided, pathogenic |
Coding sequence variant, missense variant |
rs199472716 |
T>C |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472718 |
A>C,G |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472719 |
C>T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472720 |
G>A,T |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472722 |
G>A,C,T |
Pathogenic, likely-pathogenic, not-provided |
Stop gained, coding sequence variant, missense variant |
rs199472724 |
C>T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472726 |
G>A,T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472728 |
A>G |
Uncertain-significance, likely-pathogenic, not-provided, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs199472730 |
C>G,T |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472734 |
G>A |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472737 |
C>T |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472745 |
G>A |
Likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472751 |
G>A,T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472752 |
G>A,C |
Pathogenic, not-provided |
Coding sequence variant, missense variant, synonymous variant |
rs199472753 |
C>G,T |
Uncertain-significance, pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472754 |
A>G |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472755 |
C>A,G,T |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472756 |
G>A,C |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472758 |
C>T |
Likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472759 |
T>A,C |
Uncertain-significance, not-provided, pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
rs199472760 |
C>T |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472763 |
C>A,G,T |
Uncertain-significance, likely-pathogenic, not-provided, pathogenic |
Coding sequence variant, missense variant |
rs199472765 |
C>A,G |
Pathogenic, not-provided |
Stop gained, coding sequence variant, missense variant |
rs199472767 |
T>A |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472768 |
T>C,G |
Likely-pathogenic, not-provided, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs199472771 |
G>A,T |
Not-provided, likely-pathogenic, likely-benign |
Coding sequence variant, missense variant, synonymous variant |
rs199472775 |
A>T |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472776 |
C>G,T |
Uncertain-significance, likely-pathogenic, not-provided, benign |
Coding sequence variant, missense variant |
rs199472789 |
A>C |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472790 |
T>G |
Likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472793 |
C>T |
Uncertain-significance, pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472794 |
G>A,C |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472795 |
C>T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472800 |
G>A,T |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472801 |
A>G |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472804 |
C>A,T |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472805 |
T>C,G |
Not-provided, pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs199472806 |
G>C |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472807 |
G>A,C |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472813 |
G>A,C |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472814 |
G>A,T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472815 |
G>A,C |
Uncertain-significance, pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199472823 |
T>C |
Likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473394 |
G>A |
Uncertain-significance, pathogenic, likely-benign |
Coding sequence variant, missense variant |
rs199473397 |
A>C |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473398 |
G>A,C,T |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473399 |
T>C |
Uncertain-significance, not-provided, pathogenic |
Coding sequence variant, missense variant |
rs199473403 |
T>C |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473406 |
A>G,T |
Likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473408 |
C>A |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473410 |
G>A,C |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473411 |
C>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, synonymous variant |
rs199473441 |
A>G,T |
Pathogenic, not-provided |
Missense variant, genic upstream transcript variant, initiator codon variant |
rs199473442 |
C>G,T |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, missense variant, genic upstream transcript variant |
rs199473443 |
C>T |
Uncertain-significance, not-provided, pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant |
rs199473450 |
C>T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473451 |
A>G |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473455 |
C>G,T |
Likely-pathogenic, not-provided, likely-benign |
Coding sequence variant, missense variant, synonymous variant |
rs199473456 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473457 |
C>A,T |
Pathogenic, not-provided, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
rs199473459 |
T>C |
Uncertain-significance, pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473460 |
T>C,G |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473471 |
G>A,C |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473479 |
T>G |
Pathogenic, likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473480 |
C>A,T |
Pathogenic, likely-pathogenic, not-provided |
Stop gained, coding sequence variant, missense variant |
rs199473485 |
T>A,C |
Pathogenic, not-provided |
Missense variant, genic upstream transcript variant, initiator codon variant |
rs199473661 |
T>C,G |
Likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473662 |
C>A,T |
Likely-pathogenic, not-provided |
Coding sequence variant, missense variant, synonymous variant |
rs200612600 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
rs267607197 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs368507376 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs374090960 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs387906290 |
G>A,C |
Pathogenic |
Splice acceptor variant |
rs397508067 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397508068 |
CTT>- |
Pathogenic |
Coding sequence variant, inframe deletion |
rs397508069 |
TTT>- |
Pathogenic, not-provided |
Coding sequence variant, inframe deletion |
rs397508070 |
G>A |
Likely-pathogenic |
Splice donor variant |
rs397508072 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs397508075 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs397508077 |
TTCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397508082 |
C>-,CC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397508083 |
A>-,AA |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
rs397508087 |
C>-,CC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397508096 |
C>G |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant |
rs397508097 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs397508107 |
GCCGCGCCC>-,GCCGCGCCCGCCGCGCCC |
Uncertain-significance, pathogenic, not-provided |
Inframe insertion, coding sequence variant, genic upstream transcript variant, inframe deletion |
rs397508109 |
->T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant |
rs397508110 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397508111 |
G>A,C |
Pathogenic, likely-pathogenic |
Intron variant |
rs397508112 |
T>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
rs397508114 |
G>- |
Pathogenic, not-provided |
Coding sequence variant, frameshift variant |
rs397508115 |
C>GG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397508116 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397508117 |
GG>-,GGG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397508118 |
GCGCT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397508120 |
G>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
rs397508122 |
G>A |
Pathogenic |
Intron variant |
rs397508125 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397508126 |
TCT>- |
Pathogenic |
Coding sequence variant, inframe deletion |
rs397508127 |
CTC>- |
Pathogenic |
Coding sequence variant, inframe deletion |
rs397508129 |
GTGAACGAGTCAGGCCGCG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397508130 |
G>T |
Pathogenic |
Splice donor variant |
rs397508131 |
G>A |
Likely-pathogenic |
Synonymous variant, coding sequence variant |
rs397508133 |
A>C,G |
Likely-pathogenic, not-provided |
Splice acceptor variant |
rs397508134 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397515637 |
CAGTAC>GTTGAGA |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397515877 |
ATCGCGCCC>-,ATCGCGCCCATCGCGCCC,ATCGCGCCCATCGCGCCCATCGCGCCC |
Benign-likely-benign, likely-benign, uncertain-significance, pathogenic |
Inframe insertion, coding sequence variant, genic upstream transcript variant, inframe deletion |
rs530612385 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
rs752457145 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
rs762814879 |
G>A |
Pathogenic |
Splice donor variant |
rs763462603 |
TCTGGTCCGCC>-,TCTGGTCCGCCTCTGGTCCGCC |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
rs764781840 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs765169367 |
G>- |
Pathogenic |
Coding sequence variant, stop gained |
rs775479779 |
C>A,T |
Likely-pathogenic, likely-benign |
Coding sequence variant, stop gained, synonymous variant |
rs779383393 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant |
rs786204778 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs794728510 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728511 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728512 |
T>C,G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs794728513 |
C>G,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs794728514 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728517 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs794728519 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728520 |
A>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728523 |
A>C,G |
Pathogenic |
Splice acceptor variant |
rs794728524 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728526 |
A>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728527 |
T>A,C |
Likely-benign, likely-pathogenic |
Stop gained, coding sequence variant, synonymous variant |
rs794728528 |
T>C |
Likely-pathogenic |
Splice donor variant |
rs794728530 |
G>T |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
rs794728531 |
G>A |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs794728532 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728533 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs794728534 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728535 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
rs794728536 |
A>T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs794728537 |
C>T |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
rs794728538 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
rs794728544 |
A>T |
Pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant |
rs794728547 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
rs794728553 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
rs794728555 |
TTC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
rs794728556 |
GGCTGCGCTTTGCC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728557 |
GTGGTAAGTCGG>- |
Pathogenic-likely-pathogenic |
Splice donor variant, coding sequence variant, intron variant |
rs794728559 |
->AGC |
Uncertain-significance, likely-pathogenic |
Inframe insertion, coding sequence variant |
rs794728562 |
G>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, splice acceptor variant |
rs794728563 |
GCCCGGCGCCCCAGGTCCCGCGC>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
rs794728565 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs794728566 |
T>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
rs794728567 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs794728568 |
G>A,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs794728569 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
rs794728571 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs794728572 |
G>A |
Pathogenic-likely-pathogenic |
Stop gained, coding sequence variant |
rs794728573 |
A>G |
Pathogenic |
Splice acceptor variant |
rs794728576 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728578 |
T>A,G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
rs794728579 |
A>T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
rs794728580 |
CGGTGAGTCAT>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant, intron variant |
rs796052166 |
T>G |
Likely-pathogenic |
Splice donor variant |
rs876661350 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs878854347 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs878854348 |
G>C |
Pathogenic |
Splice acceptor variant |
rs878854350 |
A>G |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
rs886037906 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
rs914460959 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs959449103 |
G>A |
Uncertain-significance, likely-pathogenic |
Genic upstream transcript variant, missense variant, coding sequence variant |
rs1057519584 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |
rs1057520623 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1060500621 |
GA>TT |
Pathogenic |
Missense variant, coding sequence variant |
rs1060500623 |
C>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
rs1060500626 |
AGGCTCCTGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1060500628 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1060500629 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1064794538 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1064795333 |
CT>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1064796353 |
GAG>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
rs1085307965 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1131691513 |
A>G |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
rs1135401944 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1222477763 |
C>A,T |
Pathogenic |
Genic upstream transcript variant, stop gained, synonymous variant, coding sequence variant |
rs1325525794 |
G>A,C |
Pathogenic, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, missense variant |
rs1435990592 |
CGGCCGCGCCC>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
rs1554892895 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554892900 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1554892994 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554893091 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1554893092 |
GG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554893228 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
rs1554893260 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1554894445 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1554894448 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs1554894481 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1554895166 |
G>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554919471 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554920580 |
->ATGTG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554920808 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1554920833 |
G>- |
Pathogenic |
Intron variant |
rs1554958030 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
rs1554958043 |
A>T |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
rs1554958045 |
G>T |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
rs1554958047 |
G>T |
Likely-pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
rs1554958049 |
->GGCGGCG |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
rs1554958092 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant |
rs1554958132 |
->GC |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
rs1564820372 |
G>C |
Likely-pathogenic |
Splice acceptor variant |
rs1564820729 |
A>C |
Likely-pathogenic |
Splice acceptor variant |
rs1564820786 |
ACCTGGAGGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1564821090 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1564825414 |
C>G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant, stop gained |
rs1564886323 |
AG>- |
Likely-pathogenic |
Splice acceptor variant |
rs1564886349 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1565023136 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
rs1589884185 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
rs1589931156 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1589956565 |
C>- |
Pathogenic |
Coding sequence variant, stop gained |
rs1589957233 |
G>A |
Likely-pathogenic |
Splice donor variant |
rs1589957697 |
->GC |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1589957719 |
C>- |
Pathogenic |
Coding sequence variant, stop gained |
rs1589968661 |
G>A |
Pathogenic |
Splice donor variant |
rs1590081328 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
rs1590081467 |
T>C,G |
Likely-pathogenic, pathogenic |
Splice donor variant |