13 | g.20188864T>C | CA608984133 | GJB2 | c.*37A>G (n.*37A>G)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188864T= | CA2077138515 | GJB2 | c.*37A= (n.*37A=)
| |
13 | g.20188865G>A | CA2622252026 | GJB2 | c.*36C>T (n.*36C>T)
| gnomAD v4 |
13 | g.20188865G>T | CA2622252027 | GJB2 | c.*36C>A (n.*36C>A)
| gnomAD v4 |
13 | g.20188865_20188869delinsGCTGT | CA2077138516 | GJB2 | c.*32_*36delinsACAGC (n.*32_*36delinsACAGC)
| |
13 | g.20188866del | CA2622252028 | GJB2 | c.*35del (n.*35del)
| gnomAD v4 |
13 | g.20188866C= | CA2077138519 | GJB2 | c.*35G= (n.*35G=)
| |
13 | g.20188866C>T | CA6904203 | GJB2 | c.*35G>A (n.*35G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188868_20188871del | CA6904202 | GJB2 | c.*32_*35del (n.*32_*35del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188867T>C | CA6904204 | GJB2 | c.*34A>G (n.*34A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188867T= | CA2077138521 | GJB2 | c.*34A= (n.*34A=)
| |
13 | g.20188868G>T | CA2575364775 | GJB2 | c.*33C>A (n.*33C>A)
| gnomAD v4 |
13 | g.20188869T>A | CA953781372 | GJB2 | c.*32A>T (n.*32A>T)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20188869T= | CA2077138524 | GJB2 | c.*32A= (n.*32A=)
| |
13 | g.20188870C= | CA2077138526 | GJB2 | c.*31G= (n.*31G=)
| |
13 | g.20188870C>G | CA2622252030 | GJB2 | c.*31G>C (n.*31G>C)
| gnomAD v4 |
13 | g.20188870C>T | CA2077138527 | GJB2 | c.*31G>A (n.*31G>A)
| dbSNP |
13 | g.20188872A= | CA2077138528 | GJB2 | c.*29T= (n.*29T=)
| |
13 | g.20188872A>C | CA953781374 | GJB2 | c.*29T>G (n.*29T>G)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20188872A>G | CA2622252031 | GJB2 | c.*29T>C (n.*29T>C)
| gnomAD v4 |
13 | g.20188873T>C | CA608984134 | GJB2 | c.*28A>G (n.*28A>G)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188873T= | CA2077138529 | GJB2 | c.*28A= (n.*28A=)
| |
13 | g.20188876C>A | CA953781376 | GJB2 | c.*25G>T (n.*25G>T)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20188876C= | CA2077138532 | GJB2 | c.*25G= (n.*25G=)
| |
13 | g.20188878T>C | CA2622252032 | GJB2 | c.*23A>G (n.*23A>G)
| gnomAD v4 |
13 | g.20188879A>T | CA2622252033 | GJB2 | c.*22T>A (n.*22T>A)
| gnomAD v4 |
13 | g.20188882C= | CA2077138535 | GJB2 | c.*19G= (n.*19G=)
| |
13 | g.20188882C>G | CA2077138536 | GJB2 | c.*19G>C (n.*19G>C)
| dbSNP |
13 | g.20188884A>G | CA2798416345 | GJB2 | c.*17T>C (n.*17T>C)
| |
13 | g.20188886C= | CA2077138538 | GJB2 | c.*15G= (n.*15G=)
| |
13 | g.20188886C>T | CA608984135 | GJB2 | c.*15G>A (n.*15G>A)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188887A= | CA2077138540 | GJB2 | c.*14T= (n.*14T=)
| |
13 | g.20188887A>C | CA608984136 | GJB2 | c.*14T>G (n.*14T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188887_20188892del | CA2622252038 | GJB2 | c.*9_*14del (n.*9_*14del)
| gnomAD v4 |
13 | g.20188888A>C | CA2622252041 | GJB2 | c.*13T>G (n.*13T>G)
| gnomAD v4 |
13 | g.20188888A>G | CA2622252043 | GJB2 | c.*13T>C (n.*13T>C)
| gnomAD v4 |
13 | g.20188889C>T | CA2622252045 | GJB2 | c.*12G>A (n.*12G>A)
| gnomAD v4 |
13 | g.20188890T>C | CA2622252047 | GJB2 | c.*11A>G (n.*11A>G)
| gnomAD v4 |
13 | g.20188891G>A | CA2622252050 | GJB2 | c.*10C>T (n.*10C>T)
| gnomAD v4 |
13 | g.20188891G>C | CA2575364776 | GJB2 | c.*10C>G (n.*10C>G)
| |
13 | g.20188891G>T | CA2575364777 | GJB2 | c.*10C>A (n.*10C>A)
| gnomAD v4 |
13 | g.20188892G>C | CA6904205 | GJB2 | c.*9C>G (n.*9C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188892G= | CA2077138543 | GJB2 | c.*9C= (n.*9C=)
| |
13 | g.20188892G>T | CA2575364778 | GJB2 | c.*9C>A (n.*9C>A)
| |
13 | g.20188893G>T | CA2622252052 | GJB2 | c.*8C>A (n.*8C>A)
| gnomAD v4 |
13 | g.20188894C>A | CA2622252054 | GJB2 | c.*7G>T (n.*7G>T)
| gnomAD v4 |
13 | g.20188894C= | CA2077138546 | GJB2 | c.*7G= (n.*7G=)
| |
13 | g.20188894C>T | CA608984137 | GJB2 | c.*7G>A (n.*7G>A)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188894_20188895insTT | CA2622252056 | GJB2 | c.*6_*7insAA (n.*6_*7insAA)
| gnomAD v4 |
13 | g.20188896A>C | CA2622252058 | GJB2 | c.*5T>G (n.*5T>G)
| gnomAD v4 |
13 | g.20188896A>G | CA2622252060 | GJB2 | c.*5T>C (n.*5T>C)
| gnomAD v4 |
13 | g.20188897T>C | CA6904206 | GJB2 | c.*4A>G (n.*4A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188897T>G | CA2622252064 | GJB2 | c.*4A>C (n.*4A>C)
| gnomAD v4 |
13 | g.20188897T= | CA2077138549 | GJB2 | c.*4A= (n.*4A=)
| |
13 | g.20188897_20188898insCTAACAAAAAA | CA2622252069 | GJB2 | c.*3_*4insTTTTTTGTTAG (n.*3_*4insTTTTTTGTTAG)
| gnomAD v4 |
13 | g.20188898G>A | CA608984138 | GJB2 | c.*3C>T (n.*3C>T)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188898G= | CA2077138553 | GJB2 | c.*3C= (n.*3C=)
| |
13 | g.20188898G>T | CA134941 | GJB2 | c.*3C>A (n.*3C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188899C>A | CA2622252073 | GJB2 | c.*2G>T (n.*2G>T)
| gnomAD v4 |
13 | g.20188899C= | CA2077138557 | GJB2 | c.*2G= (n.*2G=)
| |
13 | g.20188899C>T | CA6904207 | GJB2 | c.*2G>A (n.*2G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188900G>A | CA134940 | GJB2 | c.*1C>T (n.*1C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188900G= | CA2077138562 | GJB2 | c.*1C= (n.*1C=)
| |
13 | g.20188900G>T | CA2525654516 | GJB2 | c.*1C>A (n.*1C>A)
| |
13 | g.20188901T>A | CA387460656 | GJB2 | c.681A>T (p.Ter227Tyr)
| |
13 | g.20188901T>C | CA483154195 | GJB2 | c.681A>G (p.Ter227=)
| |
13 | g.20188901T>G | CA387460655 | GJB2 | c.681A>C (p.Ter227Tyr)
| |
13 | g.20188902T>A | CA387460657 | GJB2 | c.680A>T (p.Ter227Leu)
| |
13 | g.20188902T>C | CA6904208 | GJB2 | c.680A>G (p.Ter227=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188902T>G | CA387460658 | GJB2 | c.680A>C (p.Ter227Ser)
| |
13 | g.20188902T= | CA2077138566 | GJB2 | c.680A= (p.Ter227=)
| |
13 | g.20188903A>C | CA387460659 | GJB2 | c.679T>G (p.Ter227Glu)
| gnomAD v4 |
13 | g.20188903A>G | CA387460660 | GJB2 | c.679T>C (p.Ter227Gln)
| |
13 | g.20188903A>T | CA387460661 | GJB2 | c.679T>A (p.Ter227Lys)
| |
13 | g.20188904A>C | CA483154198 | GJB2 | c.678T>G (p.Val226=)
| gnomAD v4 |
13 | g.20188904A>G | CA483154200 | GJB2 | c.678T>C (p.Val226=)
| |
13 | g.20188904A>T | CA483154202 | GJB2 | c.678T>A (p.Val226=)
| |
13 | g.20188905A= | CA2077138571 | GJB2 | c.677T= (p.Val226=)
| |
13 | g.20188905A>C | CA6904209 | GJB2 | c.677T>G (p.Val226Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188905A>G | CA387460662 | GJB2 | c.677T>C (p.Val226Ala)
| |
13 | g.20188905A>T | CA387460663 | GJB2 | c.677T>A (p.Val226Asp)
| ClinVar dbSNP gnomAD v4 |
13 | g.20188906C>A | CA387460664 | GJB2 | c.676G>T (p.Val226Phe)
| |
13 | g.20188906C= | CA2077138578 | GJB2 | c.676G= (p.Val226=)
| |
13 | g.20188906C>G | CA387460665 | GJB2 | c.676G>C (p.Val226Leu)
| |
13 | g.20188906C>T | CA6904210 | GJB2 | c.676G>A (p.Val226Ile)
| dbSNP ExAC |
13 | g.20188907T>A | CA6904211 | GJB2 | c.675A>T (p.Pro225=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188907T>C | CA483154205 | GJB2 | c.675A>G (p.Pro225=)
| gnomAD v4 |
13 | g.20188907T>G | CA483154207 | GJB2 | c.675A>C (p.Pro225=)
| gnomAD v4 |
13 | g.20188907T= | CA2077138583 | GJB2 | c.675A= (p.Pro225=)
| |
13 | g.20188908G>A | CA387460667 | GJB2 | c.674C>T (p.Pro225Leu)
| ClinVar dbSNP |
13 | g.20188908G>C | CA387460668 | GJB2 | c.674C>G (p.Pro225Arg)
| |
13 | g.20188908G= | CA2077138588 | GJB2 | c.674C= (p.Pro225=)
| |
13 | g.20188908G>T | CA387460666 | GJB2 | c.674C>A (p.Pro225Gln)
| |
13 | g.20188909G>A | CA387460671 | GJB2 | c.673C>T (p.Pro225Ser)
| COSMIC |
13 | g.20188909G>C | CA387460669 | GJB2 | c.673C>G (p.Pro225Ala)
| |
13 | g.20188909G>T | CA387460670 | GJB2 | c.673C>A (p.Pro225Thr)
| |
13 | g.20188910C>A | CA387460672 | GJB2 | c.672G>T (p.Lys224Asn)
| |
13 | g.20188910C= | CA2077138594 | GJB2 | c.672G= (p.Lys224=)
| |
13 | g.20188910C>G | CA387460673 | GJB2 | c.672G>C (p.Lys224Asn)
| |
13 | g.20188910C>T | CA6904212 | GJB2 | c.672G>A (p.Lys224=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188910_20188914del | CA912980092 | GJB2 | c.668_672del (p.Lys223ThrfsTer?)
| |
13 | g.20188910_20188914delinsCTTTT | CA2077138596 | GJB2 | c.668_672delinsAAAAG (p.Lys223=)
| |
13 | g.20188911T>A | CA387460674 | GJB2 | c.671A>T (p.Lys224Met)
| |
13 | g.20188911T>C | CA387460675 | GJB2 | c.671A>G (p.Lys224Arg)
| |
13 | g.20188911T>G | CA387460676 | GJB2 | c.671A>C (p.Lys224Thr)
| |
13 | g.20188916dup | CA645587643 | GJB2 | c.671dup (p.Pro225AlafsTer?)
| gnomAD v4 COSMIC |
13 | g.20188916del | CA2622252099 | GJB2 | c.671del (p.Lys224SerfsTer10)
| gnomAD v4 |
13 | g.20188913_20188916del | CA658823443 | GJB2 | c.668_671del (p.Lys223SerfsTer10)
| ClinVar dbSNP |
13 | g.20188911_20188912insA | CA483154211 | GJB2 | c.670_671insT (p.Lys224IlefsTer?)
| |
13 | g.20188912T>A | CA387460677 | GJB2 | c.670A>T (p.Lys224Ter)
| gnomAD v4 |
13 | g.20188912T>C | CA387460678 | GJB2 | c.670A>G (p.Lys224Glu)
| |
13 | g.20188912T>G | CA134995 | GJB2 | c.670A>C (p.Lys224Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188912T= | CA2077138603 | GJB2 | c.670A= (p.Lys224=)
| |
13 | g.20188913T>A | CA387460679 | GJB2 | c.669A>T (p.Lys223Asn)
| |
13 | g.20188913T>C | CA483154212 | GJB2 | c.669A>G (p.Lys223=)
| |
13 | g.20188913T>G | CA387460680 | GJB2 | c.669A>C (p.Lys223Asn)
| |
13 | g.20188914T>A | CA387460681 | GJB2 | c.668A>T (p.Lys223Ile)
| |
13 | g.20188914T>C | CA387460683 | GJB2 | c.668A>G (p.Lys223Arg)
| |
13 | g.20188914T>G | CA387460682 | GJB2 | c.668A>C (p.Lys223Thr)
| |
13 | g.20188915T>A | CA387460684 | GJB2 | c.667A>T (p.Lys223Ter)
| |
13 | g.20188915T>C | CA387460685 | GJB2 | c.667A>G (p.Lys223Glu)
| |
13 | g.20188915T>G | CA387460686 | GJB2 | c.667A>C (p.Lys223Gln)
| |
13 | g.20188916T>A | CA483154214 | GJB2 | c.666A>T (p.Ser222=)
| |
13 | g.20188916T>C | CA483154215 | GJB2 | c.666A>G (p.Ser222=)
| |
13 | g.20188916T>G | CA483154217 | GJB2 | c.666A>C (p.Ser222=)
| |
13 | g.20188917G>A | CA387460687 | GJB2 | c.665C>T (p.Ser222Leu)
| |
13 | g.20188917G>C | CA387460688 | GJB2 | c.665C>G (p.Ser222Ter)
| gnomAD v4 |
13 | g.20188917G= | CA2077138608 | GJB2 | c.665C= (p.Ser222=)
| |
13 | g.20188917G>T | CA6904213 | GJB2 | c.665C>A (p.Ser222Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188918A= | CA2077138612 | GJB2 | c.664T= (p.Ser222=)
| |
13 | g.20188918A>C | CA387460689 | GJB2 | c.664T>G (p.Ser222Ala)
| |
13 | g.20188918A>G | CA387460690 | GJB2 | c.664T>C (p.Ser222Pro)
| |
13 | g.20188918A>T | CA6904214 | GJB2 | c.664T>A (p.Ser222Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188919C>A | CA387460691 | GJB2 | c.663G>T (p.Lys221Asn)
| |
13 | g.20188919C= | CA2077138615 | GJB2 | c.663G= (p.Lys221=)
| |
13 | g.20188919C>G | CA134993 | GJB2 | c.663G>C (p.Lys221Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188919C>T | CA483154220 | GJB2 | c.663G>A (p.Lys221=)
| |
13 | g.20188920T>A | CA387460693 | GJB2 | c.662A>T (p.Lys221Met)
| |
13 | g.20188920T>C | CA387460694 | GJB2 | c.662A>G (p.Lys221Arg)
| |
13 | g.20188920T>G | CA387460692 | GJB2 | c.662A>C (p.Lys221Thr)
| |
13 | g.20188921T>A | CA387460695 | GJB2 | c.661A>T (p.Lys221Ter)
| |
13 | g.20188921T>C | CA387460696 | GJB2 | c.661A>G (p.Lys221Glu)
| gnomAD v4 |
13 | g.20188921T>G | CA387460697 | GJB2 | c.661A>C (p.Lys221Gln)
| |
13 | g.20188922C>A | CA483154224 | GJB2 | c.660G>T (p.Gly220=)
| |
13 | g.20188922C= | CA2077138618 | GJB2 | c.660G= (p.Gly220=)
| |
13 | g.20188922C>G | CA483154223 | GJB2 | c.660G>C (p.Gly220=)
| |
13 | g.20188922C>T | CA483154221 | GJB2 | c.660G>A (p.Gly220=)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20188923C>A | CA387460698 | GJB2 | c.659G>T (p.Gly220Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188923C= | CA2077138620 | GJB2 | c.659G= (p.Gly220=)
| |
13 | g.20188923C>G | CA387460699 | GJB2 | c.659G>C (p.Gly220Ala)
| |
13 | g.20188923C>T | CA387460700 | GJB2 | c.659G>A (p.Gly220Glu)
| dbSNP gnomAD v4 |
13 | g.20188924C>A | CA387460701 | GJB2 | c.658G>T (p.Gly220Trp)
| |
13 | g.20188924C>G | CA387460702 | GJB2 | c.658G>C (p.Gly220Arg)
| |
13 | g.20188924C>T | CA387460703 | GJB2 | c.658G>A (p.Gly220Arg)
| |
13 | g.20188925A>C | CA483154226 | GJB2 | c.657T>G (p.Ser219=)
| gnomAD v4 |
13 | g.20188925A>G | CA483154228 | GJB2 | c.657T>C (p.Ser219=)
| |
13 | g.20188925A>T | CA483154230 | GJB2 | c.657T>A (p.Ser219=)
| |
13 | g.20188926G>A | CA6904215 | GJB2 | c.656C>T (p.Ser219Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188926G>C | CA387460704 | GJB2 | c.656C>G (p.Ser219Cys)
| |
13 | g.20188926G= | CA2077138623 | GJB2 | c.656C= (p.Ser219=)
| |
13 | g.20188926G>T | CA387460705 | GJB2 | c.656C>A (p.Ser219Tyr)
| |
13 | g.20188927A>C | CA387460707 | GJB2 | c.655T>G (p.Ser219Ala)
| |
13 | g.20188927A>G | CA387460708 | GJB2 | c.655T>C (p.Ser219Pro)
| |
13 | g.20188927A>T | CA387460706 | GJB2 | c.655T>A (p.Ser219Thr)
| gnomAD v4 |
13 | g.20188928A>C | CA387460709 | GJB2 | c.654T>G (p.Cys218Trp)
| |
13 | g.20188928A>G | CA483154232 | GJB2 | c.654T>C (p.Cys218=)
| |
13 | g.20188928A>T | CA387460710 | GJB2 | c.654T>A (p.Cys218Ter)
| |
13 | g.20188929C>A | CA387460711 | GJB2 | c.653G>T (p.Cys218Phe)
| |
13 | g.20188929C= | CA2077138627 | GJB2 | c.653G= (p.Cys218=)
| |
13 | g.20188929C>G | CA387460712 | GJB2 | c.653G>C (p.Cys218Ser)
| |
13 | g.20188929C>T | CA6904216 | GJB2 | c.653G>A (p.Cys218Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188930A= | CA2077138630 | GJB2 | c.652T= (p.Cys218=)
| |
13 | g.20188930A>C | CA387460715 | GJB2 | c.652T>G (p.Cys218Gly)
| |
13 | g.20188930A>G | CA387460714 | GJB2 | c.652T>C (p.Cys218Arg)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20188930A>T | CA387460713 | GJB2 | c.652T>A (p.Cys218Ser)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20188931A= | CA2077138634 | GJB2 | c.651T= (p.Tyr217=)
| |
13 | g.20188931A>C | CA387460716 | GJB2 | c.651T>G (p.Tyr217Ter)
| |
13 | g.20188931A>G | CA6904217 | GJB2 | c.651T>C (p.Tyr217=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188931A>T | CA387460717 | GJB2 | c.651T>A (p.Tyr217Ter)
| |
13 | g.20188931_20188935delinsATATC | CA2077138633 | GJB2 | c.647_651delinsGATAT (p.Arg216=)
| |
13 | g.20188932T>A | CA387460718 | GJB2 | c.650A>T (p.Tyr217Phe)
| |
13 | g.20188932T>C | CA246459675 | GJB2 | c.650A>G (p.Tyr217Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188932T>G | CA387460719 | GJB2 | c.650A>C (p.Tyr217Ser)
| |
13 | g.20188932T= | CA2077138640 | GJB2 | c.650A= (p.Tyr217=)
| |
13 | g.20188934_20188937del | CA172239 | GJB2 | c.647_650del (p.Arg216IlefsTer17)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188933A= | CA2077138647 | GJB2 | c.649T= (p.Tyr217=)
| |
13 | g.20188933A>C | CA6904218 | GJB2 | c.649T>G (p.Tyr217Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20188933A>G | CA387460721 | GJB2 | c.649T>C (p.Tyr217His)
| |
13 | g.20188933A>T | CA387460720 | GJB2 | c.649T>A (p.Tyr217Asn)
| |
13 | g.20188934T>A | CA387460722 | GJB2 | c.648A>T (p.Arg216Ser)
| |
13 | g.20188934T>C | CA483154235 | GJB2 | c.648A>G (p.Arg216=)
| dbSNP gnomAD v2 |
13 | g.20188934T>G | CA387460723 | GJB2 | c.648A>C (p.Arg216Ser)
| dbSNP |
13 | g.20188934T= | CA2077138651 | GJB2 | c.648A= (p.Arg216=)
| |
13 | g.20188935C>A | CA6904219 | GJB2 | c.647G>T (p.Arg216Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20188935C= | CA2077138654 | GJB2 | c.647G= (p.Arg216=)
| |
13 | g.20188935C>G | CA387460725 | GJB2 | c.647G>C (p.Arg216Thr)
| |
13 | g.20188935C>T | CA387460724 | GJB2 | c.647G>A (p.Arg216Lys)
| gnomAD v4 |
13 | g.20188936T>A | CA387460726 | GJB2 | c.646A>T (p.Arg216Ter)
| gnomAD v4 |
13 | g.20188936T>C | CA387460727 | GJB2 | c.646A>G (p.Arg216Gly)
| dbSNP gnomAD v4 |
13 | g.20188936T>G | CA483154236 | GJB2 | c.646A>C (p.Arg216=)
| ClinVar dbSNP |
13 | g.20188936T= | CA2077138658 | GJB2 | c.646A= (p.Arg216=)
| |
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)
| |