13 | g.20188934_20188937del | CA172239 | GJB2 | c.647_650del (p.Arg216IlefsTer17)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188936_20188937delinsTA | CA2077138661 | GJB2 | c.645_646delinsTA (p.Ile215=)
| |
13 | g.20188937A= | CA2077138666 | GJB2 | c.645T= (p.Ile215=)
| |
13 | g.20188937A>C | CA387460728 | GJB2 | c.645T>G (p.Ile215Met)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188937A>G | CA6904220 | GJB2 | c.645T>C (p.Ile215=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188937A>T | CA483154237 | GJB2 | c.645T>A (p.Ile215=)
| |
13 | g.20188938del | CA658656317 | GJB2 | c.645del (p.Arg216AspfsTer18)
| ClinVar dbSNP |
13 | g.20188938A>C | CA387460729 | GJB2 | c.644T>G (p.Ile215Ser)
| |
13 | g.20188938A>G | CA387460730 | GJB2 | c.644T>C (p.Ile215Thr)
| |
13 | g.20188938A>T | CA387460731 | GJB2 | c.644T>A (p.Ile215Asn)
| |
13 | g.20188939T>A | CA387460732 | GJB2 | c.643A>T (p.Ile215Phe)
| |
13 | g.20188939T>C | CA387460733 | GJB2 | c.643A>G (p.Ile215Val)
| |
13 | g.20188939T>G | CA387460734 | GJB2 | c.643A>C (p.Ile215Leu)
| |
13 | g.20188940T>A | CA483154241 | GJB2 | c.642A>T (p.Leu214=)
| |
13 | g.20188940T>C | CA6904221 | GJB2 | c.642A>G (p.Leu214=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188940T>G | CA483154244 | GJB2 | c.642A>C (p.Leu214=)
| |
13 | g.20188940T= | CA2077138668 | GJB2 | c.642A= (p.Leu214=)
| |
13 | g.20188941A>C | CA387460735 | GJB2 | c.641T>G (p.Leu214Arg)
| ClinVar |
13 | g.20188941A>G | CA387460736 | GJB2 | c.641T>C (p.Leu214Pro)
| |
13 | g.20188941A>T | CA387460737 | GJB2 | c.641T>A (p.Leu214Gln)
| |
13 | g.20188942G>A | CA483154245 | GJB2 | c.640C>T (p.Leu214=)
| gnomAD v4 |
13 | g.20188942G>C | CA387460738 | GJB2 | c.640C>G (p.Leu214Val)
| dbSNP gnomAD v2 |
13 | g.20188942G= | CA2077138672 | GJB2 | c.640C= (p.Leu214=)
| |
13 | g.20188942G>T | CA387460739 | GJB2 | c.640C>A (p.Leu214Ile)
| |
13 | g.20188943C>A | CA387460740 | GJB2 | c.639G>T (p.Leu213Phe)
| |
13 | g.20188943C>G | CA387460741 | GJB2 | c.639G>C (p.Leu213Phe)
| |
13 | g.20188943C>T | CA483154247 | GJB2 | c.639G>A (p.Leu213=)
| |
13 | g.20188944A>C | CA387460742 | GJB2 | c.638T>G (p.Leu213Trp)
| |
13 | g.20188944A>G | CA387460743 | GJB2 | c.638T>C (p.Leu213Ser)
| |
13 | g.20188944A>T | CA387460744 | GJB2 | c.638T>A (p.Leu213Ter)
| |
13 | g.20188945A= | CA2077138675 | GJB2 | c.637T= (p.Leu213=)
| |
13 | g.20188945A>C | CA387460745 | GJB2 | c.637T>G (p.Leu213Val)
| |
13 | g.20188945A>G | CA483154249 | GJB2 | c.637T>C (p.Leu213=)
| |
13 | g.20188945A>T | CA387460746 | GJB2 | c.637T>A (p.Leu213Met)
| dbSNP gnomAD v4 |
13 | g.20188946A>C | CA387460747 | GJB2 | c.636T>G (p.Tyr212Ter)
| |
13 | g.20188946A>G | CA483154250 | GJB2 | c.636T>C (p.Tyr212=)
| |
13 | g.20188946A>T | CA387460748 | GJB2 | c.636T>A (p.Tyr212Ter)
| |
13 | g.20188947T>A | CA387460749 | GJB2 | c.635A>T (p.Tyr212Phe)
| |
13 | g.20188947T>C | CA387460750 | GJB2 | c.635A>G (p.Tyr212Cys)
| COSMIC |
13 | g.20188947T>G | CA387460751 | GJB2 | c.635A>C (p.Tyr212Ser)
| |
13 | g.20188947_20188952delinsTAACAC | CA2077138679 | GJB2 | c.630_635delinsGTGTTA (p.Leu210=)
| |
13 | g.20188948A>C | CA387460752 | GJB2 | c.634T>G (p.Tyr212Asp)
| |
13 | g.20188948A>G | CA387460754 | GJB2 | c.634T>C (p.Tyr212His)
| |
13 | g.20188948A>T | CA387460753 | GJB2 | c.634T>A (p.Tyr212Asn)
| |
13 | g.20188948_20188950delinsAAC | CA2077138684 | GJB2 | c.632_634delinsGTT (p.Cys211=)
| |
13 | g.20188950_20188954del | CA608984139 | GJB2 | c.630_634del (p.Cys211PhefsTer4)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188949A>C | CA387460755 | GJB2 | c.633T>G (p.Cys211Trp)
| |
13 | g.20188949A>G | CA483154252 | GJB2 | c.633T>C (p.Cys211=)
| |
13 | g.20188949A>T | CA387460756 | GJB2 | c.633T>A (p.Cys211Ter)
| gnomAD v4 |
13 | g.20188952_20188953del | CA172238 | GJB2 | c.632_633del (p.Cys211LeufsTer5)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188950C>A | CA387460757 | GJB2 | c.632G>T (p.Cys211Phe)
| |
13 | g.20188950C= | CA2077138690 | GJB2 | c.632G= (p.Cys211=)
| |
13 | g.20188950C>G | CA387460758 | GJB2 | c.632G>C (p.Cys211Ser)
| |
13 | g.20188950C>T | CA387460759 | GJB2 | c.632G>A (p.Cys211Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20188951A>C | CA387460760 | GJB2 | c.631T>G (p.Cys211Gly)
| |
13 | g.20188951A>G | CA387460761 | GJB2 | c.631T>C (p.Cys211Arg)
| |
13 | g.20188951A>T | CA387460762 | GJB2 | c.631T>A (p.Cys211Ser)
| |
13 | g.20188952C>A | CA387460763 | GJB2 | c.630G>T (p.Leu210Phe)
| |
13 | g.20188952C>G | CA387460764 | GJB2 | c.630G>C (p.Leu210Phe)
| |
13 | g.20188952C>T | CA483154256 | GJB2 | c.630G>A (p.Leu210=)
| dbSNP |
13 | g.20188953A>C | CA387460767 | GJB2 | c.629T>G (p.Leu210Trp)
| |
13 | g.20188953A>G | CA387460765 | GJB2 | c.629T>C (p.Leu210Ser)
| |
13 | g.20188953A>T | CA387460766 | GJB2 | c.629T>A (p.Leu210Ter)
| |
13 | g.20188954A= | CA2077138694 | GJB2 | c.628T= (p.Leu210=)
| |
13 | g.20188954A>C | CA387460768 | GJB2 | c.628T>G (p.Leu210Val)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188954A>G | CA246459699 | GJB2 | c.628T>C (p.Leu210=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20188954A>T | CA387460769 | GJB2 | c.628T>A (p.Leu210Met)
| |
13 | g.20188954_20188955del | CA2622252166 | GJB2 | c.627_628del (p.Glu209AspfsTer7)
| gnomAD v4 |
13 | g.20188955T>A | CA387460770 | GJB2 | c.627A>T (p.Glu209Asp)
| |
13 | g.20188955T>C | CA246459702 | GJB2 | c.627A>G (p.Glu209=)
| dbSNP gnomAD v4 |
13 | g.20188955T>G | CA387460771 | GJB2 | c.627A>C (p.Glu209Asp)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188955T= | CA2077138698 | GJB2 | c.627A= (p.Glu209=)
| |
13 | g.20188956T>A | CA387460772 | GJB2 | c.626A>T (p.Glu209Val)
| |
13 | g.20188956T>C | CA6904222 | GJB2 | c.626A>G (p.Glu209Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188956T>G | CA387460773 | GJB2 | c.626A>C (p.Glu209Ala)
| |
13 | g.20188956T= | CA2077138701 | GJB2 | c.626A= (p.Glu209=)
| |
13 | g.20188957C>A | CA387460774 | GJB2 | c.625G>T (p.Glu209Ter)
| |
13 | g.20188957C>G | CA387460775 | GJB2 | c.625G>C (p.Glu209Gln)
| |
13 | g.20188957C>T | CA387460776 | GJB2 | c.625G>A (p.Glu209Lys)
| gnomAD v4 |
13 | g.20188958del | CA2573149176 | GJB2 | c.624del (p.Glu209AsnfsTer6)
| ClinVar dbSNP |
13 | g.20188958A>C | CA483154262 | GJB2 | c.624T>G (p.Thr208=)
| |
13 | g.20188958A>G | CA483154263 | GJB2 | c.624T>C (p.Thr208=)
| |
13 | g.20188958A>T | CA483154265 | GJB2 | c.624T>A (p.Thr208=)
| |
13 | g.20188959G>A | CA387460778 | GJB2 | c.623C>T (p.Thr208Ile)
| |
13 | g.20188959G>C | CA387460779 | GJB2 | c.623C>G (p.Thr208Ser)
| |
13 | g.20188959G>T | CA387460777 | GJB2 | c.623C>A (p.Thr208Asn)
| |
13 | g.20188960T>A | CA387460780 | GJB2 | c.622A>T (p.Thr208Ser)
| |
13 | g.20188960T>C | CA387460781 | GJB2 | c.622A>G (p.Thr208Ala)
| |
13 | g.20188960T>G | CA387460782 | GJB2 | c.622A>C (p.Thr208Pro)
| |
13 | g.20188961G>A | CA483154266 | GJB2 | c.621C>T (p.Val207=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20188961G>C | CA483154267 | GJB2 | c.621C>G (p.Val207=)
| |
13 | g.20188961G= | CA2077138703 | GJB2 | c.621C= (p.Val207=)
| |
13 | g.20188961G>T | CA483154268 | GJB2 | c.621C>A (p.Val207=)
| gnomAD v4 |
13 | g.20188962A>C | CA387460783 | GJB2 | c.620T>G (p.Val207Gly)
| |
13 | g.20188962A>G | CA387460784 | GJB2 | c.620T>C (p.Val207Ala)
| |
13 | g.20188962A>T | CA387460785 | GJB2 | c.620T>A (p.Val207Asp)
| |
13 | g.20188963C>A | CA246459713 | GJB2 | c.619G>T (p.Val207Phe)
| dbSNP |
13 | g.20188963C= | CA2077138706 | GJB2 | c.619G= (p.Val207=)
| |
13 | g.20188963C>G | CA387460786 | GJB2 | c.619G>C (p.Val207Leu)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188963C>T | CA387460787 | GJB2 | c.619G>A (p.Val207Ile)
| |
13 | g.20188964A>C | CA387460788 | GJB2 | c.618T>G (p.Asn206Lys)
| |
13 | g.20188964A>G | CA483154270 | GJB2 | c.618T>C (p.Asn206=)
| gnomAD v4 |
13 | g.20188964A>T | CA387460789 | GJB2 | c.618T>A (p.Asn206Lys)
| |
13 | g.20188965T>A | CA387460790 | GJB2 | c.617A>T (p.Asn206Ile)
| |
13 | g.20188965T>C | CA172236 | GJB2 | c.617A>G (p.Asn206Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188965T>G | CA387460791 | GJB2 | c.617A>C (p.Asn206Thr)
| |
13 | g.20188965T= | CA2077138711 | GJB2 | c.617A= (p.Asn206=)
| |
13 | g.20188966T>A | CA387460792 | GJB2 | c.616A>T (p.Asn206Tyr)
| |
13 | g.20188966T>C | CA387460794 | GJB2 | c.616A>G (p.Asn206Asp)
| |
13 | g.20188966T>G | CA387460793 | GJB2 | c.616A>C (p.Asn206His)
| |
13 | g.20188967C>A | CA483154275 | GJB2 | c.615G>T (p.Leu205=)
| |
13 | g.20188967C>G | CA483154273 | GJB2 | c.615G>C (p.Leu205=)
| |
13 | g.20188967C>T | CA483154272 | GJB2 | c.615G>A (p.Leu205=)
| |
13 | g.20188968A>C | CA387460795 | GJB2 | c.614T>G (p.Leu205Arg)
| |
13 | g.20188968A>G | CA387460796 | GJB2 | c.614T>C (p.Leu205Pro)
| |
13 | g.20188968A>T | CA387460797 | GJB2 | c.614T>A (p.Leu205Gln)
| |
13 | g.20188969G>A | CA483154276 | GJB2 | c.613C>T (p.Leu205=)
| |
13 | g.20188969G>C | CA387460798 | GJB2 | c.613C>G (p.Leu205Val)
| |
13 | g.20188969G>T | CA387460799 | GJB2 | c.613C>A (p.Leu205Met)
| |
13 | g.20188970C>A | CA6904223 | GJB2 | c.612G>T (p.Leu204=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188970C= | CA2077138715 | GJB2 | c.612G= (p.Leu204=)
| |
13 | g.20188970C>G | CA483154278 | GJB2 | c.612G>C (p.Leu204=)
| |
13 | g.20188970C>T | CA483154280 | GJB2 | c.612G>A (p.Leu204=)
| |
13 | g.20188971A>C | CA387460800 | GJB2 | c.611T>G (p.Leu204Arg)
| |
13 | g.20188971A>G | CA387460801 | GJB2 | c.611T>C (p.Leu204Pro)
| |
13 | g.20188971A>T | CA387460802 | GJB2 | c.611T>A (p.Leu204Gln)
| |
13 | g.20188972G>A | CA483154281 | GJB2 | c.610C>T (p.Leu204=)
| |
13 | g.20188972G>C | CA387460803 | GJB2 | c.610C>G (p.Leu204Val)
| |
13 | g.20188972G>T | CA387460804 | GJB2 | c.610C>A (p.Leu204Met)
| |
13 | g.20188973G>A | CA483154282 | GJB2 | c.609C>T (p.Ile203=)
| ClinVar dbSNP |
13 | g.20188973G>C | CA387460805 | GJB2 | c.609C>G (p.Ile203Met)
| dbSNP gnomAD v4 |
13 | g.20188973G= | CA2077138716 | GJB2 | c.609C= (p.Ile203=)
| |
13 | g.20188973G>T | CA483154283 | GJB2 | c.609C>A (p.Ile203=)
| gnomAD v4 |
13 | g.20188973_20188974delinsTT | CA1139532487 | GJB2 | c.608_609delinsAA (p.Ile203Lys)
| |
13 | g.20188974A= | CA2077138719 | GJB2 | c.608T= (p.Ile203=)
| |
13 | g.20188974A>C | CA387460806 | GJB2 | c.608T>G (p.Ile203Ser)
| |
13 | g.20188974A>G | CA134991 | GJB2 | c.608T>C (p.Ile203Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188974A>T | CA387460807 | GJB2 | c.608T>A (p.Ile203Asn)
| gnomAD v4 |
13 | g.20188975T>A | CA387460808 | GJB2 | c.607A>T (p.Ile203Phe)
| |
13 | g.20188975T>C | CA387460809 | GJB2 | c.607A>G (p.Ile203Val)
| |
13 | g.20188975T>G | CA387460810 | GJB2 | c.607A>C (p.Ile203Leu)
| ClinVar gnomAD v4 |
13 | g.20188976G>A | CA483154284 | GJB2 | c.606C>T (p.Cys202=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188976G>C | CA387460811 | GJB2 | c.606C>G (p.Cys202Trp)
| |
13 | g.20188976G= | CA2077138722 | GJB2 | c.606C= (p.Cys202=)
| |
13 | g.20188976G>T | CA387460812 | GJB2 | c.606C>A (p.Cys202Ter)
| |
13 | g.20188977C>A | CA257678 | GJB2 | c.605G>T (p.Cys202Phe)
| ClinVar dbSNP |
13 | g.20188977C= | CA2077138729 | GJB2 | c.605G= (p.Cys202=)
| |
13 | g.20188977C>G | CA387460813 | GJB2 | c.605G>C (p.Cys202Ser)
| |
13 | g.20188977C>T | CA387460814 | GJB2 | c.605G>A (p.Cys202Tyr)
| |
13 | g.20188978_20189023dup | CA913191089 | GJB2 | c.560_605dup (p.Cys202Ter)
| ClinVar dbSNP gnomAD v4 |
13 | g.20188978A= | CA2077138734 | GJB2 | c.604T= (p.Cys202=)
| |
13 | g.20188978A>C | CA387460815 | GJB2 | c.604T>G (p.Cys202Gly)
| |
13 | g.20188978A>G | CA387460816 | GJB2 | c.604T>C (p.Cys202Arg)
| ClinVar dbSNP gnomAD v4 |
13 | g.20188978A>T | CA387460817 | GJB2 | c.604T>A (p.Cys202Ser)
| |
13 | g.20188979A= | CA2077138737 | GJB2 | c.603T= (p.Ile201=)
| |
13 | g.20188979A>C | CA6904224 | GJB2 | c.603T>G (p.Ile201Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188979A>G | CA483154285 | GJB2 | c.603T>C (p.Ile201=)
| |
13 | g.20188979A>T | CA483154286 | GJB2 | c.603T>A (p.Ile201=)
| |
13 | g.20188980A>C | CA387460820 | GJB2 | c.602T>G (p.Ile201Ser)
| |
13 | g.20188980A>G | CA387460819 | GJB2 | c.602T>C (p.Ile201Thr)
| |
13 | g.20188980A>T | CA387460818 | GJB2 | c.602T>A (p.Ile201Asn)
| |
13 | g.20188981T>A | CA387460821 | GJB2 | c.601A>T (p.Ile201Phe)
| |
13 | g.20188981T>C | CA387460822 | GJB2 | c.601A>G (p.Ile201Val)
| |
13 | g.20188981T>G | CA387460823 | GJB2 | c.601A>C (p.Ile201Leu)
| |
13 | g.20188981T= | CA2077138741 | GJB2 | c.601A= (p.Ile201=)
| |
13 | g.20188981_20188990delinsTTCCAGACAC | CA2077138739 | GJB2 | c.592_601delinsGTGTCTGGAA (p.Val198=)
| |
13 | g.20188981_20188982insGAATG | CA608984140 | GJB2 | c.600_601insCATTC (p.Ile201HisfsTer7)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188982T>A | CA483154288 | GJB2 | c.600A>T (p.Gly200=)
| |
13 | g.20188982T>C | CA483154289 | GJB2 | c.600A>G (p.Gly200=)
| |
13 | g.20188982T>G | CA483154287 | GJB2 | c.600A>C (p.Gly200=)
| ClinVar dbSNP |
13 | g.20188982_20188990delinsGAATGTCATGAACACTG | CA261653 | GJB2 | c.592_600delinsCAGTGTTCATGACATTC (p.Val198GlnfsTer4)
| ClinVar dbSNP |
13 | g.20188983C>A | CA387460824 | GJB2 | c.599G>T (p.Gly200Val)
| |
13 | g.20188983C>G | CA387460825 | GJB2 | c.599G>C (p.Gly200Ala)
| |
13 | g.20188983C>T | CA387460826 | GJB2 | c.599G>A (p.Gly200Glu)
| |
13 | g.20188984C>A | CA274205 | GJB2 | c.598G>T (p.Gly200Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188984C= | CA2077138753 | GJB2 | c.598G= (p.Gly200=)
| |
13 | g.20188984C>G | CA387460827 | GJB2 | c.598G>C (p.Gly200Arg)
| |
13 | g.20188984C>T | CA357244 | GJB2 | c.598G>A (p.Gly200Arg)
| ClinVar dbSNP |
13 | g.20188985A= | CA2077138757 | GJB2 | c.597T= (p.Ser199=)
| |
13 | g.20188985A>C | CA483154290 | GJB2 | c.597T>G (p.Ser199=)
| |
13 | g.20188985A>G | CA483154291 | GJB2 | c.597T>C (p.Ser199=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20188985A>T | CA246459739 | GJB2 | c.597T>A (p.Ser199=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188986G>A | CA274470 | GJB2 | c.596C>T (p.Ser199Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188986G>C | CA387460828 | GJB2 | c.596C>G (p.Ser199Cys)
| gnomAD v4 |
13 | g.20188986G= | CA2077138762 | GJB2 | c.596C= (p.Ser199=)
| |
13 | g.20188986G>T | CA387460829 | GJB2 | c.596C>A (p.Ser199Tyr)
| |
13 | g.20188987A>C | CA387460831 | GJB2 | c.595T>G (p.Ser199Ala)
| ClinVar |
13 | g.20188987A>G | CA387460832 | GJB2 | c.595T>C (p.Ser199Pro)
| ClinVar gnomAD v4 |
13 | g.20188987A>T | CA387460830 | GJB2 | c.595T>A (p.Ser199Thr)
| |
13 | g.20188987dup | CA608984141 | GJB2 | c.595dup (p.Ser199PhefsTer11)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188988C>A | CA483154292 | GJB2 | c.594G>T (p.Val198=)
| |
13 | g.20188988C= | CA2077138770 | GJB2 | c.594G= (p.Val198=)
| |
13 | g.20188988C>G | CA483154293 | GJB2 | c.594G>C (p.Val198=)
| |
13 | g.20188988C>T | CA6904225 | GJB2 | c.594G>A (p.Val198=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188990_20188994dup | CA2695217653 | GJB2 | c.590_594dup (p.Ser199GlnfsTer9)
| |
13 | g.20188989A= | CA2077138775 | GJB2 | c.593T= (p.Val198=)
| |
13 | g.20188989A>C | CA6904226 | GJB2 | c.593T>G (p.Val198Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188989A>G | CA387460834 | GJB2 | c.593T>C (p.Val198Ala)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20188989A>T | CA387460833 | GJB2 | c.593T>A (p.Val198Glu)
| gnomAD v4 |
13 | g.20188990C>A | CA387460835 | GJB2 | c.592G>T (p.Val198Leu)
| |
13 | g.20188990C= | CA2077138777 | GJB2 | c.592G= (p.Val198=)
| |
13 | g.20188990C>G | CA387460836 | GJB2 | c.592G>C (p.Val198Leu)
| |
13 | g.20188990C>T | CA387460837 | GJB2 | c.592G>A (p.Val198Met)
| ClinVar dbSNP |
13 | g.20188991T>A | CA483154294 | GJB2 | c.591A>T (p.Ala197=)
| |
13 | g.20188991T>C | CA6904227 | GJB2 | c.591A>G (p.Ala197=)
| dbSNP ExAC gnomAD v2 |
13 | g.20188991T>G | CA483154295 | GJB2 | c.591A>C (p.Ala197=)
| |
13 | g.20188991T= | CA2077138783 | GJB2 | c.591A= (p.Ala197=)
| |
13 | g.20188991_20188992dup | CA608984142 | GJB2 | c.590_591dup (p.Val198GlnfsTer9)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188992G>A | CA387460838 | GJB2 | c.590C>T (p.Ala197Val)
| dbSNP gnomAD v4 |
13 | g.20188992G>C | CA387460839 | GJB2 | c.590C>G (p.Ala197Gly)
| |
13 | g.20188992G= | CA2077138786 | GJB2 | c.590C= (p.Ala197=)
| |
13 | g.20188992G>T | CA387460840 | GJB2 | c.590C>A (p.Ala197Glu)
| |
13 | g.20188993C>A | CA387460841 | GJB2 | c.589G>T (p.Ala197Ser)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
13 | g.20188993C= | CA2077138789 | GJB2 | c.589G= (p.Ala197=)
| |
13 | g.20188993C>G | CA387460842 | GJB2 | c.589G>C (p.Ala197Pro)
| |
13 | g.20188993C>T | CA6904228 | GJB2 | c.589G>A (p.Ala197Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188994A= | CA2077138791 | GJB2 | c.588T= (p.Ile196=)
| |
13 | g.20188994A>C | CA6904229 | GJB2 | c.588T>G (p.Ile196Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188994A>G | CA483154296 | GJB2 | c.588T>C (p.Ile196=)
| ClinVar |
13 | g.20188994A>T | CA483154297 | GJB2 | c.588T>A (p.Ile196=)
| |
13 | g.20188995A= | CA2077138796 | GJB2 | c.587T= (p.Ile196=)
| |
13 | g.20188995A>C | CA6904230 | GJB2 | c.587T>G (p.Ile196Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188995A>G | CA246459805 | GJB2 | c.587T>C (p.Ile196Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188995A>T | CA387460843 | GJB2 | c.587T>A (p.Ile196Asn)
| |
13 | g.20188996T>A | CA387460844 | GJB2 | c.586A>T (p.Ile196Phe)
| |
13 | g.20188996T>C | CA387460845 | GJB2 | c.586A>G (p.Ile196Val)
| gnomAD v4 |
13 | g.20188996T>G | CA387460846 | GJB2 | c.586A>C (p.Ile196Leu)
| |
13 | g.20188997del | CA2622252257 | GJB2 | c.585del (p.Met195IlefsTer11)
| gnomAD v4 |
13 | g.20188997C>A | CA6904232 | GJB2 | c.585G>T (p.Met195Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188997C= | CA2077138801 | GJB2 | c.585G= (p.Met195=)
| |
13 | g.20188997C>G | CA6904231 | GJB2 | c.585G>C (p.Met195Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188997C>T | CA387460847 | GJB2 | c.585G>A (p.Met195Ile)
| ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.20188998A= | CA2077138806 | GJB2 | c.584T= (p.Met195=)
| |
13 | g.20188998A>C | CA387460848 | GJB2 | c.584T>G (p.Met195Arg)
| |
13 | g.20188998A>G | CA387460849 | GJB2 | c.584T>C (p.Met195Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188998A>T | CA387460850 | GJB2 | c.584T>A (p.Met195Lys)
| |
13 | g.20188999T>A | CA246459818 | GJB2 | c.583A>T (p.Met195Leu)
| ClinVar dbSNP gnomAD v4 |
13 | g.20188999T>C | CA6904233 | GJB2 | c.583A>G (p.Met195Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188999T>G | CA387460851 | GJB2 | c.583A>C (p.Met195Leu)
| |
13 | g.20188999T= | CA2077138810 | GJB2 | c.583A= (p.Met195=)
| |
13 | g.20189000G>A | CA241525 | GJB2 | c.582C>T (p.Phe194=)
| ClinVar dbSNP |
13 | g.20189000G>C | CA387460853 | GJB2 | c.582C>G (p.Phe194Leu)
| |
13 | g.20189000G= | CA2077138816 | GJB2 | c.582C= (p.Phe194=)
| |
13 | g.20189000G>T | CA387460852 | GJB2 | c.582C>A (p.Phe194Leu)
| |
13 | g.20189001A>C | CA387460854 | GJB2 | c.581T>G (p.Phe194Cys)
| |
13 | g.20189001A>G | CA387460855 | GJB2 | c.581T>C (p.Phe194Ser)
| |
13 | g.20189001A>T | CA387460856 | GJB2 | c.581T>A (p.Phe194Tyr)
| |
13 | g.20189002A>C | CA387460857 | GJB2 | c.580T>G (p.Phe194Val)
| |
13 | g.20189002A>G | CA387460858 | GJB2 | c.580T>C (p.Phe194Leu)
| |
13 | g.20189002A>T | CA387460859 | GJB2 | c.580T>A (p.Phe194Ile)
| |
13 | g.20189003C>A | CA483153814 | GJB2 | c.579G>T (p.Val193=)
| |
13 | g.20189003C>G | CA483153813 | GJB2 | c.579G>C (p.Val193=)
| |
13 | g.20189003C>T | CA483153812 | GJB2 | c.579G>A (p.Val193=)
| |
13 | g.20189004A>C | CA387460862 | GJB2 | c.578T>G (p.Val193Gly)
| |
13 | g.20189004A>G | CA387460860 | GJB2 | c.578T>C (p.Val193Ala)
| |
13 | g.20189004A>T | CA387460861 | GJB2 | c.578T>A (p.Val193Glu)
| |
13 | g.20189005C>A | CA387460863 | GJB2 | c.577G>T (p.Val193Leu)
| |
13 | g.20189005C>G | CA387460864 | GJB2 | c.577G>C (p.Val193Leu)
| |
13 | g.20189005C>T | CA387460865 | GJB2 | c.577G>A (p.Val193Met)
| |
13 | g.20189005_20189006delinsCT | CA2077138819 | GJB2 | c.576_577delinsAG (p.Thr192=)
| |
13 | g.20189005_20189007delinsCTG | CA2077138820 | GJB2 | c.575_577delinsCAG (p.Thr192=)
| |
13 | g.20189006del | CA6904234 | GJB2 | c.576del (p.Val193CysfsTer3)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189006T>A | CA483153815 | GJB2 | c.576A>T (p.Thr192=)
| |
13 | g.20189006T>C | CA483153816 | GJB2 | c.576A>G (p.Thr192=)
| gnomAD v4 |
13 | g.20189006T>G | CA483153817 | GJB2 | c.576A>C (p.Thr192=)
| ClinVar |
13 | g.20189008_20189009del | CA16041592 | GJB2 | c.575_576del (p.Thr192SerfsTer17)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189007G>A | CA387460866 | GJB2 | c.575C>T (p.Thr192Ile)
| |
13 | g.20189007G>C | CA387460868 | GJB2 | c.575C>G (p.Thr192Arg)
| |
13 | g.20189007G>T | CA387460867 | GJB2 | c.575C>A (p.Thr192Lys)
| |
13 | g.20189008T>A | CA387460869 | GJB2 | c.574A>T (p.Thr192Ser)
| dbSNP |
13 | g.20189008T>C | CA387460870 | GJB2 | c.574A>G (p.Thr192Ala)
| |
13 | g.20189008T>G | CA387460871 | GJB2 | c.574A>C (p.Thr192Pro)
| |
13 | g.20189009G>A | CA483153818 | GJB2 | c.573C>T (p.Phe191=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189009G>C | CA387460872 | GJB2 | c.573C>G (p.Phe191Leu)
| |
13 | g.20189009G= | CA2077138830 | GJB2 | c.573C= (p.Phe191=)
| |
13 | g.20189009G>T | CA387460873 | GJB2 | c.573C>A (p.Phe191Leu)
| |
13 | g.20189010A>C | CA387460874 | GJB2 | c.572T>G (p.Phe191Cys)
| |
13 | g.20189010A>G | CA387460875 | GJB2 | c.572T>C (p.Phe191Ser)
| |
13 | g.20189010A>T | CA387460876 | GJB2 | c.572T>A (p.Phe191Tyr)
| |
13 | g.20189011del | CA2695217654 | GJB2 | c.572del (p.Phe191SerfsTer5)
| |
13 | g.20189011A= | CA2077138836 | GJB2 | c.571T= (p.Phe191=)
| |
13 | g.20189011A>C | CA387460877 | GJB2 | c.571T>G (p.Phe191Val)
| |
13 | g.20189011A>G | CA134989 | GJB2 | c.571T>C (p.Phe191Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189011A>T | CA387460878 | GJB2 | c.571T>A (p.Phe191Ile)
| |
13 | g.20189013_20189016del | CA2622252268 | GJB2 | c.568_571del (p.Val190SerfsTer5)
| ClinVar gnomAD v4 |
13 | g.20189012G>A | CA483153821 | GJB2 | c.570C>T (p.Val190=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189012G>C | CA483153822 | GJB2 | c.570C>G (p.Val190=)
| |
13 | g.20189012G= | CA2077138838 | GJB2 | c.570C= (p.Val190=)
| |
13 | g.20189012G>T | CA483153823 | GJB2 | c.570C>A (p.Val190=)
| |
13 | g.20189013A= | CA2077138843 | GJB2 | c.569T= (p.Val190=)
| |
13 | g.20189013A>C | CA387460881 | GJB2 | c.569T>G (p.Val190Gly)
| |
13 | g.20189013A>G | CA387460880 | GJB2 | c.569T>C (p.Val190Ala)
| |
13 | g.20189013A>T | CA387460879 | GJB2 | c.569T>A (p.Val190Asp)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189014C>A | CA387460882 | GJB2 | c.568G>T (p.Val190Phe)
| |
13 | g.20189014C>G | CA387460883 | GJB2 | c.568G>C (p.Val190Leu)
| |
13 | g.20189014C>T | CA387460884 | GJB2 | c.568G>A (p.Val190Ile)
| |
13 | g.20189015A= | CA2077138852 | GJB2 | c.567T= (p.Thr189=)
| |
13 | g.20189015A>C | CA246459834 | GJB2 | c.567T>G (p.Thr189=)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189015A>G | CA483153824 | GJB2 | c.567T>C (p.Thr189=)
| ClinVar |
13 | g.20189015A>T | CA483153825 | GJB2 | c.567T>A (p.Thr189=)
| dbSNP |
13 | g.20189016G>A | CA387460885 | GJB2 | c.566C>T (p.Thr189Ile)
| |
13 | g.20189016G>C | CA387460886 | GJB2 | c.566C>G (p.Thr189Ser)
| dbSNP gnomAD v4 |
13 | g.20189016G= | CA2077138856 | GJB2 | c.566C= (p.Thr189=)
| |
13 | g.20189016G>T | CA134987 | GJB2 | c.566C>A (p.Thr189Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189016_20189018delinsGTC | CA2077138861 | GJB2 | c.564_566delinsGAC (p.Lys188=)
| |
13 | g.20189017T>A | CA387460889 | GJB2 | c.565A>T (p.Thr189Ser)
| |
13 | g.20189017T>C | CA387460888 | GJB2 | c.565A>G (p.Thr189Ala)
| gnomAD v4 |
13 | g.20189017T>G | CA387460887 | GJB2 | c.565A>C (p.Thr189Pro)
| |
13 | g.20189018_20189019del | CA6904235 | GJB2 | c.564_565del (p.Lys188AsnfsTer21)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189018C>A | CA387460890 | GJB2 | c.564G>T (p.Lys188Asn)
| |
13 | g.20189018C>G | CA387460891 | GJB2 | c.564G>C (p.Lys188Asn)
| |
13 | g.20189018C>T | CA483153827 | GJB2 | c.564G>A (p.Lys188=)
| |
13 | g.20189019T>A | CA387460892 | GJB2 | c.563A>T (p.Lys188Met)
| |
13 | g.20189019T>C | CA387460893 | GJB2 | c.563A>G (p.Lys188Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189019T>G | CA387460894 | GJB2 | c.563A>C (p.Lys188Thr)
| |
13 | g.20189019T= | CA2077138869 | GJB2 | c.563A= (p.Lys188=)
| |
13 | g.20189020T>A | CA387460897 | GJB2 | c.562A>T (p.Lys188Ter)
| gnomAD v4 |
13 | g.20189020T>C | CA387460895 | GJB2 | c.562A>G (p.Lys188Glu)
| |
13 | g.20189020T>G | CA387460896 | GJB2 | c.562A>C (p.Lys188Gln)
| |
13 | g.20189021C>A | CA387460898 | GJB2 | c.561G>T (p.Glu187Asp)
| |
13 | g.20189021C= | CA2077138879 | GJB2 | c.561G= (p.Glu187=)
| |
13 | g.20189021C>G | CA387460899 | GJB2 | c.561G>C (p.Glu187Asp)
| |
13 | g.20189021C>T | CA6904236 | GJB2 | c.561G>A (p.Glu187=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189022_20189024del | CA2695217655 | GJB2 | c.559_561del (p.Glu187del)
| |
13 | g.20189022T>A | CA387460900 | GJB2 | c.560A>T (p.Glu187Val)
| |
13 | g.20189022T>C | CA387460901 | GJB2 | c.560A>G (p.Glu187Gly)
| ClinVar dbSNP |
13 | g.20189022T>G | CA387460902 | GJB2 | c.560A>C (p.Glu187Ala)
| |
13 | g.20189022T= | CA2077138884 | GJB2 | c.560A= (p.Glu187=)
| |
13 | g.20189023C>A | CA387460903 | GJB2 | c.559G>T (p.Glu187Ter)
| |
13 | g.20189023C>G | CA387460904 | GJB2 | c.559G>C (p.Glu187Gln)
| |
13 | g.20189023C>T | CA387460905 | GJB2 | c.559G>A (p.Glu187Lys)
| COSMIC |
13 | g.20189024C>A | CA483153831 | GJB2 | c.558G>T (p.Thr186=)
| |
13 | g.20189024C= | CA2077138889 | GJB2 | c.558G= (p.Thr186=)
| |
13 | g.20189024C>G | CA483153832 | GJB2 | c.558G>C (p.Thr186=)
| |
13 | g.20189024C>T | CA6904237 | GJB2 | c.558G>A (p.Thr186=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189025G>A | CA6904238 | GJB2 | c.557C>T (p.Thr186Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189025G>C | CA387460906 | GJB2 | c.557C>G (p.Thr186Arg)
| |
13 | g.20189025G= | CA2077138893 | GJB2 | c.557C= (p.Thr186=)
| |
13 | g.20189025G>T | CA387460907 | GJB2 | c.557C>A (p.Thr186Lys)
| ClinVar |
13 | g.20189026T>A | CA387460908 | GJB2 | c.556A>T (p.Thr186Ser)
| |
13 | g.20189026T>C | CA246459866 | GJB2 | c.556A>G (p.Thr186Ala)
| dbSNP gnomAD v4 |
13 | g.20189026T>G | CA387460909 | GJB2 | c.556A>C (p.Thr186Pro)
| |
13 | g.20189026T= | CA2077138895 | GJB2 | c.556A= (p.Thr186=)
| |
13 | g.20189027G>A | CA6904239 | GJB2 | c.555C>T (p.Pro185=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189027G>C | CA483153834 | GJB2 | c.555C>G (p.Pro185=)
| |
13 | g.20189027G= | CA2077138898 | GJB2 | c.555C= (p.Pro185=)
| |
13 | g.20189027G>T | CA483153837 | GJB2 | c.555C>A (p.Pro185=)
| |
13 | g.20189028G>A | CA387460910 | GJB2 | c.554C>T (p.Pro185Leu)
| |
13 | g.20189028G>C | CA387460911 | GJB2 | c.554C>G (p.Pro185Arg)
| |
13 | g.20189028G>T | CA387460912 | GJB2 | c.554C>A (p.Pro185His)
| |
13 | g.20189029G>A | CA387460913 | GJB2 | c.553C>T (p.Pro185Ser)
| |
13 | g.20189029G>C | CA387460914 | GJB2 | c.553C>G (p.Pro185Ala)
| |
13 | g.20189029G>T | CA387460915 | GJB2 | c.553C>A (p.Pro185Thr)
| |
13 | g.20189030C>A | CA483153840 | GJB2 | c.552G>T (p.Arg184=)
| |
13 | g.20189030C>G | CA483153841 | GJB2 | c.552G>C (p.Arg184=)
| |
13 | g.20189030C>T | CA483153842 | GJB2 | c.552G>A (p.Arg184=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189031C>A | CA387460916 | GJB2 | c.551G>T (p.Arg184Leu)
| |
13 | g.20189031C= | CA2077138903 | GJB2 | c.551G= (p.Arg184=)
| |
13 | g.20189031C>G | CA341438 | GJB2 | c.551G>C (p.Arg184Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189031C>T | CA172235 | GJB2 | c.551G>A (p.Arg184Gln)
| ClinVar dbSNP |
13 | g.20189032G>A | CA246459909 | GJB2 | c.550C>T (p.Arg184Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189032G>C | CA387460917 | GJB2 | c.550C>G (p.Arg184Gly)
| |
13 | g.20189032G= | CA2077138906 | GJB2 | c.550C= (p.Arg184=)
| |
13 | g.20189032G>T | CA483153843 | GJB2 | c.550C>A (p.Arg184=)
| |
13 | g.20189033G>A | CA483153845 | GJB2 | c.549C>T (p.Ser183=)
| |
13 | g.20189033G>C | CA483153846 | GJB2 | c.549C>G (p.Ser183=)
| |
13 | g.20189033G>T | CA483153844 | GJB2 | c.549C>A (p.Ser183=)
| |
13 | g.20189034G>A | CA387460920 | GJB2 | c.548C>T (p.Ser183Phe)
| ClinVar |
13 | g.20189034G>C | CA387460919 | GJB2 | c.548C>G (p.Ser183Cys)
| |
13 | g.20189034G>T | CA387460918 | GJB2 | c.548C>A (p.Ser183Tyr)
| |
13 | g.20189035A>C | CA387460921 | GJB2 | c.547T>G (p.Ser183Ala)
| |
13 | g.20189035A>G | CA387460922 | GJB2 | c.547T>C (p.Ser183Pro)
| |
13 | g.20189035A>T | CA387460923 | GJB2 | c.547T>A (p.Ser183Thr)
| |
13 | g.20189036C>A | CA483153850 | GJB2 | c.546G>T (p.Val182=)
| ClinVar |
13 | g.20189036C= | CA2077138912 | GJB2 | c.546G= (p.Val182=)
| |
13 | g.20189036C>G | CA483153851 | GJB2 | c.546G>C (p.Val182=)
| |
13 | g.20189036C>T | CA6904240 | GJB2 | c.546G>A (p.Val182=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189037A>C | CA387460924 | GJB2 | c.545T>G (p.Val182Gly)
| |
13 | g.20189037A>G | CA387460925 | GJB2 | c.545T>C (p.Val182Ala)
| |
13 | g.20189037A>T | CA387460926 | GJB2 | c.545T>A (p.Val182Glu)
| |