13 | g.20189371_20189377dup | CA2695217715 | GJB2 | c.206_212dup (p.Ser72ProfsTer32)
| ClinVar |
13 | g.20189372G>A | CA483153807 | GJB2 | c.210C>T (p.Pro70=)
| gnomAD v4 |
13 | g.20189372G>C | CA483153808 | GJB2 | c.210C>G (p.Pro70=)
| |
13 | g.20189372G>T | CA483153809 | GJB2 | c.210C>A (p.Pro70=)
| |
13 | g.20189375del | CA2542172164 | GJB2 | c.210del (p.Ile71SerfsTer11)
| |
13 | g.20189373G>A | CA387461615 | GJB2 | c.209C>T (p.Pro70Leu)
| |
13 | g.20189373G>C | CA387461616 | GJB2 | c.209C>G (p.Pro70Arg)
| gnomAD v4 |
13 | g.20189373G>T | CA387461617 | GJB2 | c.209C>A (p.Pro70His)
| |
13 | g.20189373_20189374insCATGAGAATCGTTTGAACCTAGGAGGC | CA953781931 | GJB2 | c.208_209insGCCTCCTAGGTTCAAACGATTCTCATG (p.Pro70delinsArgLeuLeuGlySerAsnAspSerHisAla)
| gnomAD v3 gnomAD v4 |
13 | g.20189374G>A | CA387461619 | GJB2 | c.208C>T (p.Pro70Ser)
| COSMIC |
13 | g.20189374G>C | CA273831 | GJB2 | c.208C>G (p.Pro70Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189374G= | CA2077139993 | GJB2 | c.208C= (p.Pro70=)
| |
13 | g.20189374G>T | CA387461618 | GJB2 | c.208C>A (p.Pro70Thr)
| |
13 | g.20189375G>A | CA483153810 | GJB2 | c.207C>T (p.Phe69=)
| ClinVar |
13 | g.20189375G>C | CA387461621 | GJB2 | c.207C>G (p.Phe69Leu)
| ClinVar |
13 | g.20189375G>T | CA387461620 | GJB2 | c.207C>A (p.Phe69Leu)
| |
13 | g.20189376A>C | CA387461624 | GJB2 | c.206T>G (p.Phe69Cys)
| |
13 | g.20189376A>G | CA387461622 | GJB2 | c.206T>C (p.Phe69Ser)
| ClinVar |
13 | g.20189376A>T | CA387461623 | GJB2 | c.206T>A (p.Phe69Tyr)
| |
13 | g.20189377A= | CA2077139995 | GJB2 | c.205T= (p.Phe69=)
| |
13 | g.20189377A>C | CA387461625 | GJB2 | c.205T>G (p.Phe69Val)
| |
13 | g.20189377A>G | CA387461626 | GJB2 | c.205T>C (p.Phe69Leu)
| ClinVar dbSNP |
13 | g.20189377A>T | CA387461627 | GJB2 | c.205T>A (p.Phe69Ile)
| |
13 | g.20189378G>A | CA483153811 | GJB2 | c.204C>T (p.Tyr68=)
| |
13 | g.20189378G>C | CA6904302 | GJB2 | c.204C>G (p.Tyr68Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189378G= | CA2077139997 | GJB2 | c.204C= (p.Tyr68=)
| |
13 | g.20189378G>T | CA387461628 | GJB2 | c.204C>A (p.Tyr68Ter)
| gnomAD v4 |
13 | g.20189379T>A | CA387461629 | GJB2 | c.203A>T (p.Tyr68Phe)
| |
13 | g.20189379T>C | CA134951 | GJB2 | c.203A>G (p.Tyr68Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189379T>G | CA387461630 | GJB2 | c.203A>C (p.Tyr68Ser)
| |
13 | g.20189379T= | CA2077140005 | GJB2 | c.203A= (p.Tyr68=)
| |
13 | g.20189380A>C | CA387461631 | GJB2 | c.202T>G (p.Tyr68Asp)
| |
13 | g.20189380A>G | CA387461632 | GJB2 | c.202T>C (p.Tyr68His)
| |
13 | g.20189380A>T | CA387461633 | GJB2 | c.202T>A (p.Tyr68Asn)
| |
13 | g.20189381G>A | CA483153819 | GJB2 | c.201C>T (p.His67=)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189381G>C | CA387461634 | GJB2 | c.201C>G (p.His67Gln)
| |
13 | g.20189381G= | CA2077140008 | GJB2 | c.201C= (p.His67=)
| |
13 | g.20189381G>T | CA387461635 | GJB2 | c.201C>A (p.His67Gln)
| |
13 | g.20189382T>A | CA387461636 | GJB2 | c.200A>T (p.His67Leu)
| gnomAD v4 |
13 | g.20189382T>C | CA6904303 | GJB2 | c.200A>G (p.His67Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189382T>G | CA387461637 | GJB2 | c.200A>C (p.His67Pro)
| |
13 | g.20189382T= | CA2077140012 | GJB2 | c.200A= (p.His67=)
| |
13 | g.20189382dup | CA2499221954 | GJB2 | c.200dup (p.His67GlnfsTer?)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189383G>A | CA387461638 | GJB2 | c.199C>T (p.His67Tyr)
| |
13 | g.20189383G>C | CA387461639 | GJB2 | c.199C>G (p.His67Asp)
| |
13 | g.20189383G>T | CA387461640 | GJB2 | c.199C>A (p.His67Asn)
| |
13 | g.20189384A= | CA2077140014 | GJB2 | c.198T= (p.Asp66=)
| |
13 | g.20189384A>C | CA387461641 | GJB2 | c.198T>G (p.Asp66Glu)
| |
13 | g.20189384A>G | CA483153820 | GJB2 | c.198T>C (p.Asp66=)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189384A>T | CA387461642 | GJB2 | c.198T>A (p.Asp66Glu)
| |
13 | g.20189385T>A | CA387461643 | GJB2 | c.197A>T (p.Asp66Val)
| |
13 | g.20189385T>C | CA387461644 | GJB2 | c.197A>G (p.Asp66Gly)
| |
13 | g.20189385T>G | CA387461645 | GJB2 | c.197A>C (p.Asp66Ala)
| |
13 | g.20189386C>A | CA387461647 | GJB2 | c.196G>T (p.Asp66Tyr)
| ClinVar dbSNP |
13 | g.20189386C= | CA2077140020 | GJB2 | c.196G= (p.Asp66=)
| |
13 | g.20189386C>G | CA127024 | GJB2 | c.196G>C (p.Asp66His)
| ClinVar dbSNP |
13 | g.20189386C>T | CA387461646 | GJB2 | c.196G>A (p.Asp66Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189387G>A | CA6904304 | GJB2 | c.195C>T (p.Tyr65=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189387G>C | CA387461648 | GJB2 | c.195C>G (p.Tyr65Ter)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189387G= | CA2077140027 | GJB2 | c.195C= (p.Tyr65=)
| |
13 | g.20189387G>T | CA387461649 | GJB2 | c.195C>A (p.Tyr65Ter)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189388T>A | CA387461650 | GJB2 | c.194A>T (p.Tyr65Phe)
| |
13 | g.20189388T>C | CA261639 | GJB2 | c.194A>G (p.Tyr65Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189388T>G | CA387461651 | GJB2 | c.194A>C (p.Tyr65Ser)
| |
13 | g.20189388T= | CA2077140033 | GJB2 | c.194A= (p.Tyr65=)
| |
13 | g.20189389A= | CA2077140037 | GJB2 | c.193T= (p.Tyr65=)
| |
13 | g.20189389A>C | CA387461652 | GJB2 | c.193T>G (p.Tyr65Asp)
| |
13 | g.20189389A>G | CA10586212 | GJB2 | c.193T>C (p.Tyr65His)
| ClinVar dbSNP |
13 | g.20189389A>T | CA387461653 | GJB2 | c.193T>A (p.Tyr65Asn)
| |
13 | g.20189390G>A | CA483153826 | GJB2 | c.192C>T (p.Cys64=)
| |
13 | g.20189390G>C | CA387461654 | GJB2 | c.192C>G (p.Cys64Trp)
| |
13 | g.20189390G>T | CA387461655 | GJB2 | c.192C>A (p.Cys64Ter)
| |
13 | g.20189390_20189406delinsGCACACGTTCTTGCAGC | CA2077140040 | GJB2 | c.176_192delinsGCTGCAAGAACGTGTGC (p.Gly59=)
| |
13 | g.20189391C>A | CA387461657 | GJB2 | c.191G>T (p.Cys64Phe)
| |
13 | g.20189391C>G | CA387461658 | GJB2 | c.191G>C (p.Cys64Ser)
| |
13 | g.20189391C>T | CA387461656 | GJB2 | c.191G>A (p.Cys64Tyr)
| ClinVar gnomAD v4 |
13 | g.20189392_20189407del | CA6904305 | GJB2 | c.176_191del (p.Gly59AlafsTer18)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189392A>C | CA387461659 | GJB2 | c.190T>G (p.Cys64Gly)
| |
13 | g.20189392A>G | CA387461660 | GJB2 | c.190T>C (p.Cys64Arg)
| |
13 | g.20189392A>T | CA387461661 | GJB2 | c.190T>A (p.Cys64Ser)
| |
13 | g.20189393C>A | CA483153830 | GJB2 | c.189G>T (p.Val63=)
| ClinVar dbSNP |
13 | g.20189393C= | CA2077140046 | GJB2 | c.189G= (p.Val63=)
| |
13 | g.20189393C>G | CA483153828 | GJB2 | c.189G>C (p.Val63=)
| |
13 | g.20189393C>T | CA483153829 | GJB2 | c.189G>A (p.Val63=)
| |
13 | g.20189394A= | CA2077140050 | GJB2 | c.188T= (p.Val63=)
| |
13 | g.20189394A>C | CA387461662 | GJB2 | c.188T>G (p.Val63Gly)
| |
13 | g.20189394A>G | CA180700 | GJB2 | c.188T>C (p.Val63Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189394A>T | CA387461663 | GJB2 | c.188T>A (p.Val63Glu)
| |
13 | g.20189395del | CA2695217716 | GJB2 | c.187del (p.Val63CysfsTer19)
| |
13 | g.20189395C>A | CA6904306 | GJB2 | c.187G>T (p.Val63Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189395C= | CA2077140055 | GJB2 | c.187G= (p.Val63=)
| |
13 | g.20189395C>G | CA387461664 | GJB2 | c.187G>C (p.Val63Leu)
| ClinVar |
13 | g.20189395C>T | CA222244 | GJB2 | c.187G>A (p.Val63Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189396G>A | CA134949 | GJB2 | c.186C>T (p.Asn62=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189396G>C | CA387461665 | GJB2 | c.186C>G (p.Asn62Lys)
| |
13 | g.20189396G= | CA2077140061 | GJB2 | c.186C= (p.Asn62=)
| |
13 | g.20189396G>T | CA387461666 | GJB2 | c.186C>A (p.Asn62Lys)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189397T>A | CA387461667 | GJB2 | c.185A>T (p.Asn62Ile)
| |
13 | g.20189397T>C | CA387461668 | GJB2 | c.185A>G (p.Asn62Ser)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189397T>G | CA387461669 | GJB2 | c.185A>C (p.Asn62Thr)
| |
13 | g.20189397T= | CA2077140069 | GJB2 | c.185A= (p.Asn62=)
| |
13 | g.20189397_20189398insA | CA2695217717 | GJB2 | c.184_185insT (p.Asn62IlefsTer?)
| |
13 | g.20189398T>A | CA387461671 | GJB2 | c.184A>T (p.Asn62Tyr)
| |
13 | g.20189398T>C | CA387461672 | GJB2 | c.184A>G (p.Asn62Asp)
| |
13 | g.20189398T>G | CA387461670 | GJB2 | c.184A>C (p.Asn62His)
| |
13 | g.20189399C>A | CA387461673 | GJB2 | c.183G>T (p.Lys61Asn)
| |
13 | g.20189399C= | CA2077140073 | GJB2 | c.183G= (p.Lys61=)
| |
13 | g.20189399C>G | CA387461675 | GJB2 | c.183G>C (p.Lys61Asn)
| |
13 | g.20189399C>T | CA6904307 | GJB2 | c.183G>A (p.Lys61=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189400T>A | CA387461677 | GJB2 | c.182A>T (p.Lys61Met)
| |
13 | g.20189400T>C | CA387461679 | GJB2 | c.182A>G (p.Lys61Arg)
| |
13 | g.20189400T>G | CA387461680 | GJB2 | c.182A>C (p.Lys61Thr)
| |
13 | g.20189401T>A | CA387461681 | GJB2 | c.181A>T (p.Lys61Ter)
| |
13 | g.20189401T>C | CA387461683 | GJB2 | c.181A>G (p.Lys61Glu)
| |
13 | g.20189401T>G | CA387461685 | GJB2 | c.181A>C (p.Lys61Gln)
| |
13 | g.20189402G>A | CA483153833 | GJB2 | c.180C>T (p.Cys60=)
| |
13 | g.20189402G>C | CA387461687 | GJB2 | c.180C>G (p.Cys60Trp)
| |
13 | g.20189402G>T | CA387461688 | GJB2 | c.180C>A (p.Cys60Ter)
| |
13 | g.20189403C>A | CA387461690 | GJB2 | c.179G>T (p.Cys60Phe)
| dbSNP |
13 | g.20189403C= | CA2077140077 | GJB2 | c.179G= (p.Cys60=)
| |
13 | g.20189403C>G | CA387461692 | GJB2 | c.179G>C (p.Cys60Ser)
| |
13 | g.20189403C>T | CA387461694 | GJB2 | c.179G>A (p.Cys60Tyr)
| gnomAD v4 COSMIC |
13 | g.20189404A= | CA2077140079 | GJB2 | c.178T= (p.Cys60=)
| |
13 | g.20189404A>C | CA387461695 | GJB2 | c.178T>G (p.Cys60Gly)
| ClinVar |
13 | g.20189404A>G | CA246460715 | GJB2 | c.178T>C (p.Cys60Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189404A>T | CA387461696 | GJB2 | c.178T>A (p.Cys60Ser)
| |
13 | g.20189405G>A | CA6904308 | GJB2 | c.177C>T (p.Gly59=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189405G>C | CA483153835 | GJB2 | c.177C>G (p.Gly59=)
| |
13 | g.20189405G= | CA2077140084 | GJB2 | c.177C= (p.Gly59=)
| |
13 | g.20189405G>T | CA483153836 | GJB2 | c.177C>A (p.Gly59=)
| |
13 | g.20189406C>A | CA387461699 | GJB2 | c.176G>T (p.Gly59Val)
| ClinVar dbSNP |
13 | g.20189406C= | CA2077140093 | GJB2 | c.176G= (p.Gly59=)
| |
13 | g.20189406C>G | CA127026 | GJB2 | c.176G>C (p.Gly59Ala)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189406C>T | CA273153 | GJB2 | c.176G>A (p.Gly59Asp)
| ClinVar dbSNP |
13 | g.20189407del | CA2695217718 | GJB2 | c.176del (p.Gly59AlafsTer23)
| |
13 | g.20189407C>A | CA387461702 | GJB2 | c.175G>T (p.Gly59Cys)
| |
13 | g.20189407C= | CA2077140098 | GJB2 | c.175G= (p.Gly59=)
| |
13 | g.20189407C>G | CA387461703 | GJB2 | c.175G>C (p.Gly59Arg)
| ClinVar dbSNP |
13 | g.20189407C>T | CA127035 | GJB2 | c.175G>A (p.Gly59Ser)
| ClinVar dbSNP |
13 | g.20189408T>A | CA483153838 | GJB2 | c.174A>T (p.Pro58=)
| |
13 | g.20189408T>C | CA6904309 | GJB2 | c.174A>G (p.Pro58=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189408T>G | CA483153839 | GJB2 | c.174A>C (p.Pro58=)
| |
13 | g.20189408T= | CA2077140104 | GJB2 | c.174A= (p.Pro58=)
| |
13 | g.20189409G>A | CA387461705 | GJB2 | c.173C>T (p.Pro58Leu)
| |
13 | g.20189409G>C | CA387461707 | GJB2 | c.173C>G (p.Pro58Arg)
| |
13 | g.20189409G= | CA2077140107 | GJB2 | c.173C= (p.Pro58=)
| |
13 | g.20189409G>T | CA246460749 | GJB2 | c.173C>A (p.Pro58Gln)
| dbSNP |
13 | g.20189410G>A | CA387461710 | GJB2 | c.172C>T (p.Pro58Ser)
| ClinVar dbSNP |
13 | g.20189410G>C | CA16621539 | GJB2 | c.172C>G (p.Pro58Ala)
| ClinVar dbSNP |
13 | g.20189410G= | CA2077140113 | GJB2 | c.172C= (p.Pro58=)
| |
13 | g.20189410G>T | CA387461711 | GJB2 | c.172C>A (p.Pro58Thr)
| |
13 | g.20189410_20189411delinsAA | CA2695217719 | GJB2 | c.171_172delinsTT (p.Gln57_Pro58delinsHisSer)
| |
13 | g.20189411C>A | CA387461713 | GJB2 | c.171G>T (p.Gln57His)
| |
13 | g.20189411C= | CA2077140121 | GJB2 | c.171G= (p.Gln57=)
| |
13 | g.20189411C>G | CA387461715 | GJB2 | c.171G>C (p.Gln57His)
| |
13 | g.20189411C>T | CA16621645 | GJB2 | c.171G>A (p.Gln57=)
| ClinVar dbSNP |
13 | g.20189412T>A | CA387461717 | GJB2 | c.170A>T (p.Gln57Leu)
| |
13 | g.20189412T>C | CA387461718 | GJB2 | c.170A>G (p.Gln57Arg)
| |
13 | g.20189412T>G | CA387461720 | GJB2 | c.170A>C (p.Gln57Pro)
| |
13 | g.20189413G>A | CA261637 | GJB2 | c.169C>T (p.Gln57Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189413G>C | CA387461722 | GJB2 | c.169C>G (p.Gln57Glu)
| |
13 | g.20189413G= | CA2077140126 | GJB2 | c.169C= (p.Gln57=)
| |
13 | g.20189413G>T | CA387461724 | GJB2 | c.169C>A (p.Gln57Lys)
| |
13 | g.20189414C>A | CA483153847 | GJB2 | c.168G>T (p.Leu56=)
| ClinVar |
13 | g.20189414C>G | CA483153848 | GJB2 | c.168G>C (p.Leu56=)
| |
13 | g.20189414C>T | CA483153849 | GJB2 | c.168G>A (p.Leu56=)
| ClinVar |
13 | g.20189414_20189415delinsCA | CA2077140129 | GJB2 | c.167_168delinsTG (p.Leu56=)
| |
13 | g.20189415del | CA172217 | GJB2 | c.167del (p.Leu56ArgfsTer26)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189415A= | CA2581125597 | GJB2 | c.167T= (p.Leu56=)
| |
13 | g.20189415A>C | CA387461726 | GJB2 | c.167T>G (p.Leu56Arg)
| |
13 | g.20189415A>G | CA387461728 | GJB2 | c.167T>C (p.Leu56Pro)
| |
13 | g.20189415A>T | CA387461729 | GJB2 | c.167T>A (p.Leu56Gln)
| |
13 | g.20189415dup | CA2575364822 | GJB2 | c.167dup (p.Gln57AlafsTer?)
| |
13 | g.20189416G>A | CA246460780 | GJB2 | c.166C>T (p.Leu56=)
| ClinVar dbSNP |
13 | g.20189416G>C | CA387461732 | GJB2 | c.166C>G (p.Leu56Val)
| |
13 | g.20189416G= | CA2077140134 | GJB2 | c.166C= (p.Leu56=)
| |
13 | g.20189416G>T | CA387461734 | GJB2 | c.166C>A (p.Leu56Met)
| |
13 | g.20189418del | CA387461735 | GJB2 | c.166del (p.Leu56CysfsTer26)
| |
13 | g.20189417G>A | CA483153852 | GJB2 | c.165C>T (p.Thr55=)
| gnomAD v4 |
13 | g.20189417G>C | CA483153854 | GJB2 | c.165C>G (p.Thr55=)
| |
13 | g.20189417G>T | CA483153853 | GJB2 | c.165C>A (p.Thr55=)
| |
13 | g.20189418G>A | CA387461738 | GJB2 | c.164C>T (p.Thr55Ile)
| |
13 | g.20189418G>C | CA387461739 | GJB2 | c.164C>G (p.Thr55Ser)
| |
13 | g.20189418G= | CA2077140138 | GJB2 | c.164C= (p.Thr55=)
| |
13 | g.20189418G>T | CA16621540 | GJB2 | c.164C>A (p.Thr55Asn)
| ClinVar dbSNP |
13 | g.20189419T>A | CA387461741 | GJB2 | c.163A>T (p.Thr55Ser)
| |
13 | g.20189419T>C | CA387461742 | GJB2 | c.163A>G (p.Thr55Ala)
| |
13 | g.20189419T>G | CA387461744 | GJB2 | c.163A>C (p.Thr55Pro)
| dbSNP |
13 | g.20189419T= | CA2077140144 | GJB2 | c.163A= (p.Thr55=)
| |
13 | g.20189420G>A | CA483153855 | GJB2 | c.162C>T (p.Asn54=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189420G>C | CA387461746 | GJB2 | c.162C>G (p.Asn54Lys)
| |
13 | g.20189420G= | CA2077140149 | GJB2 | c.162C= (p.Asn54=)
| |
13 | g.20189420G>T | CA127032 | GJB2 | c.162C>A (p.Asn54Lys)
| ClinVar dbSNP |
13 | g.20189421T>A | CA387461751 | GJB2 | c.161A>T (p.Asn54Ile)
| |
13 | g.20189421T>C | CA387461749 | GJB2 | c.161A>G (p.Asn54Ser)
| ClinVar dbSNP |
13 | g.20189421T>G | CA387461750 | GJB2 | c.161A>C (p.Asn54Thr)
| |
13 | g.20189422T>A | CA387461753 | GJB2 | c.160A>T (p.Asn54Tyr)
| |
13 | g.20189422T>C | CA387461754 | GJB2 | c.160A>G (p.Asn54Asp)
| |
13 | g.20189422T>G | CA387461756 | GJB2 | c.160A>C (p.Asn54His)
| |
13 | g.20189423G>A | CA246460790 | GJB2 | c.159C>T (p.Cys53=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189423G>C | CA387461757 | GJB2 | c.159C>G (p.Cys53Trp)
| gnomAD v4 |
13 | g.20189423G= | CA2077140152 | GJB2 | c.159C= (p.Cys53=)
| |
13 | g.20189423G>T | CA387461758 | GJB2 | c.159C>A (p.Cys53Ter)
| |
13 | g.20189424C>A | CA387461760 | GJB2 | c.158G>T (p.Cys53Phe)
| ClinVar dbSNP |
13 | g.20189424C= | CA2077140157 | GJB2 | c.158G= (p.Cys53=)
| |
13 | g.20189424C>G | CA387461762 | GJB2 | c.158G>C (p.Cys53Ser)
| |
13 | g.20189424C>T | CA172215 | GJB2 | c.158G>A (p.Cys53Tyr)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189426_20189429del | CA2695217720 | GJB2 | c.155_158del (p.Val52AlafsTer29)
| ClinVar |
13 | g.20189425A= | CA2077140165 | GJB2 | c.157T= (p.Cys53=)
| |
13 | g.20189425A>C | CA387461764 | GJB2 | c.157T>G (p.Cys53Gly)
| |
13 | g.20189425A>G | CA387461766 | GJB2 | c.157T>C (p.Cys53Arg)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189425A>T | CA387461767 | GJB2 | c.157T>A (p.Cys53Ser)
| ClinVar dbSNP |
13 | g.20189426G>A | CA483153860 | GJB2 | c.156C>T (p.Val52=)
| |
13 | g.20189426G>C | CA483153858 | GJB2 | c.156C>G (p.Val52=)
| |
13 | g.20189426G>T | CA483153859 | GJB2 | c.156C>A (p.Val52=)
| |
13 | g.20189427A>C | CA387461769 | GJB2 | c.155T>G (p.Val52Gly)
| |
13 | g.20189427A>G | CA387461771 | GJB2 | c.155T>C (p.Val52Ala)
| |
13 | g.20189427A>T | CA387461773 | GJB2 | c.155T>A (p.Val52Asp)
| |
13 | g.20189428C>A | CA387461776 | GJB2 | c.154G>T (p.Val52Phe)
| |
13 | g.20189428C= | CA2077140174 | GJB2 | c.154G= (p.Val52=)
| |
13 | g.20189428C>G | CA6904310 | GJB2 | c.154G>C (p.Val52Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189428C>T | CA387461774 | GJB2 | c.154G>A (p.Val52Ile)
| |
13 | g.20189428_20189430delinsCAA | CA2077140172 | GJB2 | c.152_154delinsTTG (p.Phe51=)
| |
13 | g.20189429A>C | CA387461778 | GJB2 | c.153T>G (p.Phe51Leu)
| |
13 | g.20189429A>G | CA483153861 | GJB2 | c.153T>C (p.Phe51=)
| |
13 | g.20189429A>T | CA387461779 | GJB2 | c.153T>A (p.Phe51Leu)
| |
13 | g.20189431del | CA2622252304 | GJB2 | c.153del (p.Phe51LeufsTer?)
| gnomAD v4 |
13 | g.20189430_20189431del | CA6904311 | GJB2 | c.152_153del (p.Phe51CysfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189430A>C | CA387461782 | GJB2 | c.152T>G (p.Phe51Cys)
| |
13 | g.20189430A>G | CA387461784 | GJB2 | c.152T>C (p.Phe51Ser)
| |
13 | g.20189430A>T | CA387461785 | GJB2 | c.152T>A (p.Phe51Tyr)
| |
13 | g.20189431A>C | CA387461787 | GJB2 | c.151T>G (p.Phe51Val)
| |
13 | g.20189431A>G | CA387461790 | GJB2 | c.151T>C (p.Phe51Leu)
| gnomAD v4 |
13 | g.20189431A>T | CA387461788 | GJB2 | c.151T>A (p.Phe51Ile)
| |
13 | g.20189432G>A | CA483153865 | GJB2 | c.150C>T (p.Asp50=)
| |
13 | g.20189432G>C | CA387461792 | GJB2 | c.150C>G (p.Asp50Glu)
| |
13 | g.20189432G>T | CA387461793 | GJB2 | c.150C>A (p.Asp50Glu)
| |
13 | g.20189433T>A | CA387461795 | GJB2 | c.149A>T (p.Asp50Val)
| |
13 | g.20189433T>C | CA387461797 | GJB2 | c.149A>G (p.Asp50Gly)
| |
13 | g.20189433T>G | CA387461799 | GJB2 | c.149A>C (p.Asp50Ala)
| |
13 | g.20189434C>A | CA127031 | GJB2 | c.148G>T (p.Asp50Tyr)
| ClinVar dbSNP |
13 | g.20189434C= | CA2077140187 | GJB2 | c.148G= (p.Asp50=)
| |
13 | g.20189434C>G | CA387461801 | GJB2 | c.148G>C (p.Asp50His)
| |
13 | g.20189434C>T | CA127027 | GJB2 | c.148G>A (p.Asp50Asn)
| ClinVar dbSNP |
13 | g.20189435G>A | CA483153866 | GJB2 | c.147C>T (p.Ala49=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189435G>C | CA483153867 | GJB2 | c.147C>G (p.Ala49=)
| |
13 | g.20189435G= | CA2077140195 | GJB2 | c.147C= (p.Ala49=)
| |
13 | g.20189435G>T | CA483153868 | GJB2 | c.147C>A (p.Ala49=)
| |
13 | g.20189436del | CA2695217721 | GJB2 | c.147del (p.Asp50ThrfsTer?)
| |
13 | g.20189436G>A | CA16042821 | GJB2 | c.146C>T (p.Ala49Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189436G>C | CA387461804 | GJB2 | c.146C>G (p.Ala49Gly)
| |
13 | g.20189436G= | CA2077140200 | GJB2 | c.146C= (p.Ala49=)
| |
13 | g.20189436G>T | CA387461805 | GJB2 | c.146C>A (p.Ala49Asp)
| |
13 | g.20189437C>A | CA387461807 | GJB2 | c.145G>T (p.Ala49Ser)
| |
13 | g.20189437C>G | CA387461811 | GJB2 | c.145G>C (p.Ala49Pro)
| |
13 | g.20189437C>T | CA387461809 | GJB2 | c.145G>A (p.Ala49Thr)
| |
13 | g.20189438del | CA2575364823 | GJB2 | c.145del (p.Ala49ProfsTer?)
| ClinVar |
13 | g.20189438C>A | CA387461813 | GJB2 | c.144G>T (p.Gln48His)
| |
13 | g.20189438C>G | CA387461815 | GJB2 | c.144G>C (p.Gln48His)
| gnomAD v4 |
13 | g.20189438C>T | CA483153872 | GJB2 | c.144G>A (p.Gln48=)
| |
13 | g.20189439T>A | CA387461816 | GJB2 | c.143A>T (p.Gln48Leu)
| |
13 | g.20189439T>C | CA387461817 | GJB2 | c.143A>G (p.Gln48Arg)
| |
13 | g.20189439T>G | CA387461819 | GJB2 | c.143A>C (p.Gln48Pro)
| |
13 | g.20189440_20189445del | CA2695217722 | GJB2 | c.138_143del (p.Asp46_Gln48delinsGlu)
| |
13 | g.20189440G>A | CA387461820 | GJB2 | c.142C>T (p.Gln48Ter)
| |
13 | g.20189440G>C | CA387461821 | GJB2 | c.142C>G (p.Gln48Glu)
| |
13 | g.20189440G>T | CA387461823 | GJB2 | c.142C>A (p.Gln48Lys)
| |
13 | g.20189440_20189445delinsGCTCAT | CA2077140204 | GJB2 | c.137_142delinsATGAGC (p.Asp46=)
| |
13 | g.20189441C>A | CA387461825 | GJB2 | c.141G>T (p.Glu47Asp)
| |
13 | g.20189441C= | CA2077140210 | GJB2 | c.141G= (p.Glu47=)
| |
13 | g.20189441C>G | CA387461826 | GJB2 | c.141G>C (p.Glu47Asp)
| |
13 | g.20189441C>T | CA246460808 | GJB2 | c.141G>A (p.Glu47=)
| dbSNP gnomAD v4 |
13 | g.20189444_20189448del | CA1139663002 | GJB2 | c.137_141del (p.Asp46AlafsTer?)
| ClinVar dbSNP |
13 | g.20189442T>A | CA387461831 | GJB2 | c.140A>T (p.Glu47Val)
| |
13 | g.20189442T>C | CA387461830 | GJB2 | c.140A>G (p.Glu47Gly)
| |
13 | g.20189442T>G | CA387461829 | GJB2 | c.140A>C (p.Glu47Ala)
| |
13 | g.20189443C>A | CA172213 | GJB2 | c.139G>T (p.Glu47Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189443C= | CA2077140219 | GJB2 | c.139G= (p.Glu47=)
| |
13 | g.20189443C>G | CA387461834 | GJB2 | c.139G>C (p.Glu47Gln)
| |
13 | g.20189443C>T | CA387461835 | GJB2 | c.139G>A (p.Glu47Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189444A>C | CA387461837 | GJB2 | c.138T>G (p.Asp46Glu)
| |
13 | g.20189444A>G | CA483153874 | GJB2 | c.138T>C (p.Asp46=)
| |
13 | g.20189444A>T | CA387461839 | GJB2 | c.138T>A (p.Asp46Glu)
| |
13 | g.20189445T>A | CA387461841 | GJB2 | c.137A>T (p.Asp46Val)
| |
13 | g.20189445T>C | CA387461843 | GJB2 | c.137A>G (p.Asp46Gly)
| |
13 | g.20189445T>G | CA387461844 | GJB2 | c.137A>C (p.Asp46Ala)
| |
13 | g.20189446C>A | CA387461846 | GJB2 | c.136G>T (p.Asp46Tyr)
| |
13 | g.20189446C= | CA2077140225 | GJB2 | c.136G= (p.Asp46=)
| |
13 | g.20189446C>G | CA387461847 | GJB2 | c.136G>C (p.Asp46His)
| ClinVar dbSNP |
13 | g.20189446C>T | CA16621541 | GJB2 | c.136G>A (p.Asp46Asn)
| ClinVar dbSNP |
13 | g.20189447T>A | CA6904312 | GJB2 | c.135A>T (p.Gly45=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189447T>C | CA483153877 | GJB2 | c.135A>G (p.Gly45=)
| dbSNP |
13 | g.20189447T>G | CA483153878 | GJB2 | c.135A>C (p.Gly45=)
| |
13 | g.20189447T= | CA2077140233 | GJB2 | c.135A= (p.Gly45=)
| |
13 | g.20189447_20189448delinsTC | CA2077140234 | GJB2 | c.134_135delinsGA (p.Gly45=)
| |
13 | g.20189448C>A | CA387461852 | GJB2 | c.134G>T (p.Gly45Val)
| |
13 | g.20189448C= | CA2077140245 | GJB2 | c.134G= (p.Gly45=)
| |
13 | g.20189448C>G | CA387461853 | GJB2 | c.134G>C (p.Gly45Ala)
| |
13 | g.20189448C>T | CA127033 | GJB2 | c.134G>A (p.Gly45Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189451del | CA16041594 | GJB2 | c.134del (p.Gly45GlufsTer?)
| ClinVar dbSNP |
13 | g.20189449C>A | CA387461857 | GJB2 | c.133G>T (p.Gly45Ter)
| gnomAD v4 |
13 | g.20189449C= | CA2077140251 | GJB2 | c.133G= (p.Gly45=)
| |
13 | g.20189449C>G | CA387461855 | GJB2 | c.133G>C (p.Gly45Arg)
| |
13 | g.20189449C>T | CA387461860 | GJB2 | c.133G>A (p.Gly45Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189450C>A | CA387461862 | GJB2 | c.132G>T (p.Trp44Cys)
| |
13 | g.20189450C= | CA2077140259 | GJB2 | c.132G= (p.Trp44=)
| |
13 | g.20189450C>G | CA257679 | GJB2 | c.132G>C (p.Trp44Cys)
| ClinVar dbSNP |
13 | g.20189450C>T | CA172211 | GJB2 | c.132G>A (p.Trp44Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189450_20189452delinsCCA | CA2077140263 | GJB2 | c.130_132delinsTGG (p.Trp44=)
| |
13 | g.20189451_20189453del | CA912980099 | GJB2 | c.130_132del (p.Trp44del)
| |
13 | g.20189451C>A | CA387461866 | GJB2 | c.131G>T (p.Trp44Leu)
| |
13 | g.20189451C= | CA2077140276 | GJB2 | c.131G= (p.Trp44=)
| |
13 | g.20189451C>G | CA257682 | GJB2 | c.131G>C (p.Trp44Ser)
| ClinVar dbSNP |
13 | g.20189451C>T | CA274012 | GJB2 | c.131G>A (p.Trp44Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189454_20189455del | CA658823494 | GJB2 | c.130_131del (p.Trp44GlyfsTer3)
| ClinVar dbSNP |
13 | g.20189452A>C | CA387461870 | GJB2 | c.130T>G (p.Trp44Gly)
| |
13 | g.20189452A>G | CA387461871 | GJB2 | c.130T>C (p.Trp44Arg)
| |
13 | g.20189452A>T | CA387461872 | GJB2 | c.130T>A (p.Trp44Arg)
| |
13 | g.20189453del | CA2695217723 | GJB2 | c.129del (p.Trp44GlyfsTer?)
| |
13 | g.20189453C>A | CA483153883 | GJB2 | c.129G>T (p.Val43=)
| |
13 | g.20189453C>G | CA483153884 | GJB2 | c.129G>C (p.Val43=)
| |
13 | g.20189453C>T | CA483153885 | GJB2 | c.129G>A (p.Val43=)
| |
13 | g.20189454A= | CA2077140282 | GJB2 | c.128T= (p.Val43=)
| |
13 | g.20189454A>C | CA387461874 | GJB2 | c.128T>G (p.Val43Gly)
| dbSNP |
13 | g.20189454A>G | CA6904313 | GJB2 | c.128T>C (p.Val43Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189454A>T | CA387461876 | GJB2 | c.128T>A (p.Val43Glu)
| |
13 | g.20189454_20189457delinsACCT | CA2077140283 | GJB2 | c.125_128delinsAGGT (p.Glu42=)
| |
13 | g.20189454_20189461del | CA2575364824 | GJB2 | c.121_128del (p.Lys41ValfsTer4)
| |
13 | g.20189455C>A | CA387461883 | GJB2 | c.127G>T (p.Val43Leu)
| |
13 | g.20189455C>G | CA387461881 | GJB2 | c.127G>C (p.Val43Leu)
| |
13 | g.20189455C>T | CA387461879 | GJB2 | c.127G>A (p.Val43Met)
| |
13 | g.20189456del | CA2695217724 | GJB2 | c.127del (p.Val43CysfsTer?)
| |
13 | g.20189458_20189460del | CA658795176 | GJB2 | c.125_127del (p.Glu42del)
| ClinVar dbSNP |
13 | g.20189456C>A | CA6904314 | GJB2 | c.126G>T (p.Glu42Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189456C= | CA2077140289 | GJB2 | c.126G= (p.Glu42=)
| |
13 | g.20189456C>G | CA387461886 | GJB2 | c.126G>C (p.Glu42Asp)
| gnomAD v4 |
13 | g.20189456C>T | CA6904315 | GJB2 | c.126G>A (p.Glu42=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189457T>A | CA387461888 | GJB2 | c.125A>T (p.Glu42Val)
| |
13 | g.20189457T>C | CA387461890 | GJB2 | c.125A>G (p.Glu42Gly)
| |
13 | g.20189457T>G | CA387461892 | GJB2 | c.125A>C (p.Glu42Ala)
| |
13 | g.20189458C>A | CA387461893 | GJB2 | c.124G>T (p.Glu42Ter)
| COSMIC |
13 | g.20189458C>G | CA387461895 | GJB2 | c.124G>C (p.Glu42Gln)
| |
13 | g.20189458C>T | CA387461894 | GJB2 | c.124G>A (p.Glu42Lys)
| |
13 | g.20189459C>A | CA387461897 | GJB2 | c.123G>T (p.Lys41Asn)
| |
13 | g.20189459C>G | CA387461899 | GJB2 | c.123G>C (p.Lys41Asn)
| |
13 | g.20189459C>T | CA483153886 | GJB2 | c.123G>A (p.Lys41=)
| |
13 | g.20189460T>A | CA387461901 | GJB2 | c.122A>T (p.Lys41Met)
| |
13 | g.20189460T>C | CA246460871 | GJB2 | c.122A>G (p.Lys41Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189460T>G | CA387461902 | GJB2 | c.122A>C (p.Lys41Thr)
| gnomAD v4 |
13 | g.20189460T= | CA2077140292 | GJB2 | c.122A= (p.Lys41=)
| |
13 | g.20189461T>A | CA387461904 | GJB2 | c.121A>T (p.Lys41Ter)
| |
13 | g.20189461T>C | CA387461906 | GJB2 | c.121A>G (p.Lys41Glu)
| gnomAD v4 |
13 | g.20189461T>G | CA387461908 | GJB2 | c.121A>C (p.Lys41Gln)
| |
13 | g.20189462T>A | CA483153890 | GJB2 | c.120A>T (p.Ala40=)
| |
13 | g.20189462T>C | CA483153891 | GJB2 | c.120A>G (p.Ala40=)
| ClinVar |
13 | g.20189462T>G | CA241523 | GJB2 | c.120A>C (p.Ala40=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189462T= | CA2077140299 | GJB2 | c.120A= (p.Ala40=)
| |
13 | g.20189463G>A | CA387461910 | GJB2 | c.119C>T (p.Ala40Val)
| |
13 | g.20189463G>C | CA274135 | GJB2 | c.119C>G (p.Ala40Gly)
| ClinVar dbSNP |
13 | g.20189463G= | CA2077140332 | GJB2 | c.119C= (p.Ala40=)
| |
13 | g.20189463G>T | CA261635 | GJB2 | c.119C>A (p.Ala40Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189464C>A | CA387461913 | GJB2 | c.118G>T (p.Ala40Ser)
| |
13 | g.20189464C= | CA2077140336 | GJB2 | c.118G= (p.Ala40=)
| |
13 | g.20189464C>G | CA387461916 | GJB2 | c.118G>C (p.Ala40Pro)
| |
13 | g.20189464C>T | CA6904316 | GJB2 | c.118G>A (p.Ala40Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189465A>C | CA483153892 | GJB2 | c.117T>G (p.Ala39=)
| |
13 | g.20189465A>G | CA483153893 | GJB2 | c.117T>C (p.Ala39=)
| |
13 | g.20189465A>T | CA483153894 | GJB2 | c.117T>A (p.Ala39=)
| |
13 | g.20189466G>A | CA387461917 | GJB2 | c.116C>T (p.Ala39Val)
| |
13 | g.20189466G>C | CA387461918 | GJB2 | c.116C>G (p.Ala39Gly)
| |
13 | g.20189466G>T | CA387461920 | GJB2 | c.116C>A (p.Ala39Asp)
| |
13 | g.20189467C>A | CA387461922 | GJB2 | c.115G>T (p.Ala39Ser)
| |
13 | g.20189467C>G | CA387461924 | GJB2 | c.115G>C (p.Ala39Pro)
| |
13 | g.20189467C>T | CA387461925 | GJB2 | c.115G>A (p.Ala39Thr)
| |
13 | g.20189468C>A | CA483153896 | GJB2 | c.114G>T (p.Val38=)
| |
13 | g.20189468C>G | CA483153897 | GJB2 | c.114G>C (p.Val38=)
| |
13 | g.20189468C>T | CA483153898 | GJB2 | c.114G>A (p.Val38=)
| ClinVar |
13 | g.20189468_20189471delinsCACA | CA2077140339 | GJB2 | c.111_114delinsTGTG (p.Val37=)
| |
13 | g.20189469A>C | CA387461927 | GJB2 | c.113T>G (p.Val38Gly)
| |
13 | g.20189469A>G | CA387461929 | GJB2 | c.113T>C (p.Val38Ala)
| |
13 | g.20189469A>T | CA387461931 | GJB2 | c.113T>A (p.Val38Glu)
| |
13 | g.20189471_20189473del | CA1139663003 | GJB2 | c.111_113del (p.Val38del)
| ClinVar dbSNP |
13 | g.20189470C>A | CA387461933 | GJB2 | c.112G>T (p.Val38Leu)
| |
13 | g.20189470C>G | CA387461934 | GJB2 | c.112G>C (p.Val38Leu)
| gnomAD v4 |
13 | g.20189470C>T | CA387461936 | GJB2 | c.112G>A (p.Val38Met)
| |
13 | g.20189471A>C | CA483153902 | GJB2 | c.111T>G (p.Val37=)
| |
13 | g.20189471A>G | CA483153901 | GJB2 | c.111T>C (p.Val37=)
| |
13 | g.20189471A>T | CA483153899 | GJB2 | c.111T>A (p.Val37=)
| |
13 | g.20189472A= | CA2077140347 | GJB2 | c.110T= (p.Val37=)
| |
13 | g.20189472A>C | CA387461940 | GJB2 | c.110T>G (p.Val37Gly)
| |
13 | g.20189472A>G | CA6904317 | GJB2 | c.110T>C (p.Val37Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189472A>T | CA387461938 | GJB2 | c.110T>A (p.Val37Asp)
| |