13 | g.20189072_20189081del | CA2695217660 | GJB2 | c.502_511del (p.Lys168ProfsTer25)
| |
13 | g.20189080dup | CA2842434863 | GJB2 | c.503dup (p.Cys169ValfsTer?)
| |
13 | g.20189080T>A | CA387461017 | GJB2 | c.502A>T (p.Lys168Ter)
| |
13 | g.20189080T>C | CA6904255 | GJB2 | c.502A>G (p.Lys168Glu)
| dbSNP ExAC gnomAD v2 |
13 | g.20189080T>G | CA387461018 | GJB2 | c.502A>C (p.Lys168Gln)
| |
13 | g.20189080T= | CA2077139036 | GJB2 | c.502A= (p.Lys168=)
| |
13 | g.20189081C>A | CA483153903 | GJB2 | c.501G>T (p.Val167=)
| |
13 | g.20189081C>G | CA483153904 | GJB2 | c.501G>C (p.Val167=)
| |
13 | g.20189081C>T | CA483153906 | GJB2 | c.501G>A (p.Val167=)
| |
13 | g.20189082A= | CA2077139042 | GJB2 | c.500T= (p.Val167=)
| |
13 | g.20189082A>C | CA6904256 | GJB2 | c.500T>G (p.Val167Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189082A>G | CA387461019 | GJB2 | c.500T>C (p.Val167Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189082A>T | CA387461020 | GJB2 | c.500T>A (p.Val167Glu)
| |
13 | g.20189083C>A | CA387461021 | GJB2 | c.499G>T (p.Val167Leu)
| |
13 | g.20189083C= | CA2077139045 | GJB2 | c.499G= (p.Val167=)
| |
13 | g.20189083C>G | CA387461022 | GJB2 | c.499G>C (p.Val167Leu)
| |
13 | g.20189083C>T | CA134983 | GJB2 | c.499G>A (p.Val167Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189084C>A | CA483153907 | GJB2 | c.498G>T (p.Leu166=)
| |
13 | g.20189084C>G | CA483153908 | GJB2 | c.498G>C (p.Leu166=)
| |
13 | g.20189084C>T | CA483153909 | GJB2 | c.498G>A (p.Leu166=)
| |
13 | g.20189085A>C | CA387461025 | GJB2 | c.497T>G (p.Leu166Arg)
| |
13 | g.20189085A>G | CA387461024 | GJB2 | c.497T>C (p.Leu166Pro)
| |
13 | g.20189085A>T | CA387461023 | GJB2 | c.497T>A (p.Leu166Gln)
| |
13 | g.20189086G>A | CA483153912 | GJB2 | c.496C>T (p.Leu166=)
| |
13 | g.20189086G>C | CA387461026 | GJB2 | c.496C>G (p.Leu166Val)
| |
13 | g.20189086G>T | CA387461027 | GJB2 | c.496C>A (p.Leu166Met)
| |
13 | g.20189087C>A | CA483153913 | GJB2 | c.495G>T (p.Arg165=)
| |
13 | g.20189087C>G | CA483153914 | GJB2 | c.495G>C (p.Arg165=)
| |
13 | g.20189087C>T | CA483153915 | GJB2 | c.495G>A (p.Arg165=)
| |
13 | g.20189088dup | CA2622252281 | GJB2 | c.495dup (p.Leu166AlafsTer?)
| gnomAD v4 |
13 | g.20189088C>A | CA387461028 | GJB2 | c.494G>T (p.Arg165Leu)
| gnomAD v4 |
13 | g.20189088C= | CA2077139050 | GJB2 | c.494G= (p.Arg165=)
| |
13 | g.20189088C>G | CA387461029 | GJB2 | c.494G>C (p.Arg165Pro)
| gnomAD v4 |
13 | g.20189088C>T | CA6904257 | GJB2 | c.494G>A (p.Arg165Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189089G>A | CA180672 | GJB2 | c.493C>T (p.Arg165Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189089G>C | CA387461030 | GJB2 | c.493C>G (p.Arg165Gly)
| |
13 | g.20189089G= | CA2077139055 | GJB2 | c.493C= (p.Arg165=)
| |
13 | g.20189089G>T | CA483153916 | GJB2 | c.493C>A (p.Arg165=)
| |
13 | g.20189090C>A | CA387461031 | GJB2 | c.492G>T (p.Gln164His)
| |
13 | g.20189090C>G | CA387461032 | GJB2 | c.492G>C (p.Gln164His)
| |
13 | g.20189090C>T | CA483153917 | GJB2 | c.492G>A (p.Gln164=)
| |
13 | g.20189091T>A | CA387461033 | GJB2 | c.491A>T (p.Gln164Leu)
| |
13 | g.20189091T>C | CA387461034 | GJB2 | c.491A>G (p.Gln164Arg)
| |
13 | g.20189091T>G | CA387461035 | GJB2 | c.491A>C (p.Gln164Pro)
| |
13 | g.20189092G>A | CA387461037 | GJB2 | c.490C>T (p.Gln164Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189092G>C | CA6904258 | GJB2 | c.490C>G (p.Gln164Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189092G= | CA2077139058 | GJB2 | c.490C= (p.Gln164=)
| |
13 | g.20189092G>T | CA387461036 | GJB2 | c.490C>A (p.Gln164Lys)
| |
13 | g.20189093C>A | CA387461038 | GJB2 | c.489G>T (p.Met163Ile)
| |
13 | g.20189093C>G | CA387461040 | GJB2 | c.489G>C (p.Met163Ile)
| |
13 | g.20189093C>T | CA387461039 | GJB2 | c.489G>A (p.Met163Ile)
| |
13 | g.20189094A= | CA2077139061 | GJB2 | c.488T= (p.Met163=)
| |
13 | g.20189094A>C | CA387461041 | GJB2 | c.488T>G (p.Met163Arg)
| ClinVar dbSNP |
13 | g.20189094A>G | CA387461043 | GJB2 | c.488T>C (p.Met163Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189094A>T | CA387461042 | GJB2 | c.488T>A (p.Met163Lys)
| |
13 | g.20189095T>A | CA387461044 | GJB2 | c.487A>T (p.Met163Leu)
| |
13 | g.20189095T>C | CA134981 | GJB2 | c.487A>G (p.Met163Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189095T>G | CA16621538 | GJB2 | c.487A>C (p.Met163Leu)
| ClinVar dbSNP |
13 | g.20189095T= | CA2077139072 | GJB2 | c.487A= (p.Met163=)
| |
13 | g.20189095_20189137del | CA912980093 | GJB2 | c.445_487del (p.Ala149CysfsTer5)
| |
13 | g.20189095_20189137delinsTGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGC | CA2077139077 | GJB2 | c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA (p.Ala149=)
| |
13 | g.20189095_20189096insA | CA2695217662 | GJB2 | c.486_487insT (p.Met163TyrfsTer?)
| |
13 | g.20189096G>A | CA483153925 | GJB2 | c.486C>T (p.Ser162=)
| COSMIC |
13 | g.20189096G>C | CA483153926 | GJB2 | c.486C>G (p.Ser162=)
| |
13 | g.20189096G>T | CA483153924 | GJB2 | c.486C>A (p.Ser162=)
| |
13 | g.20189098_20189139del | CA658823446 | GJB2 | c.445_486del (p.Ala149_Ser162del)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189097G>A | CA387461045 | GJB2 | c.485C>T (p.Ser162Phe)
| |
13 | g.20189097G>C | CA387461046 | GJB2 | c.485C>G (p.Ser162Cys)
| |
13 | g.20189097G>T | CA387461047 | GJB2 | c.485C>A (p.Ser162Tyr)
| |
13 | g.20189098A= | CA2077139084 | GJB2 | c.484T= (p.Ser162=)
| |
13 | g.20189098A>C | CA387461048 | GJB2 | c.484T>G (p.Ser162Ala)
| |
13 | g.20189098A>G | CA387461049 | GJB2 | c.484T>C (p.Ser162Pro)
| |
13 | g.20189098A>T | CA387461050 | GJB2 | c.484T>A (p.Ser162Thr)
| |
13 | g.20189099G>A | CA483153929 | GJB2 | c.483C>T (p.Phe161=)
| |
13 | g.20189099G>C | CA387461051 | GJB2 | c.483C>G (p.Phe161Leu)
| |
13 | g.20189099G= | CA2077139088 | GJB2 | c.483C= (p.Phe161=)
| |
13 | g.20189099G>T | CA387461052 | GJB2 | c.483C>A (p.Phe161Leu)
| dbSNP gnomAD v4 |
13 | g.20189099_20189103dup | CA608984148 | GJB2 | c.479_483dup (p.Ser162AlafsTer8)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189100A>C | CA387461055 | GJB2 | c.482T>G (p.Phe161Cys)
| |
13 | g.20189100A>G | CA387461054 | GJB2 | c.482T>C (p.Phe161Ser)
| |
13 | g.20189100A>T | CA387461053 | GJB2 | c.482T>A (p.Phe161Tyr)
| |
13 | g.20189101A= | CA2077139092 | GJB2 | c.481T= (p.Phe161=)
| |
13 | g.20189101A>C | CA387461056 | GJB2 | c.481T>G (p.Phe161Val)
| dbSNP gnomAD v2 |
13 | g.20189101A>G | CA387461057 | GJB2 | c.481T>C (p.Phe161Leu)
| |
13 | g.20189101A>T | CA387461058 | GJB2 | c.481T>A (p.Phe161Ile)
| |
13 | g.20189102G>A | CA483153932 | GJB2 | c.480C>T (p.Gly160=)
| |
13 | g.20189102G>C | CA483153936 | GJB2 | c.480C>G (p.Gly160=)
| |
13 | g.20189102G>T | CA483153934 | GJB2 | c.480C>A (p.Gly160=)
| |
13 | g.20189103C>A | CA387461059 | GJB2 | c.479G>T (p.Gly160Val)
| |
13 | g.20189103C= | CA2077139095 | GJB2 | c.479G= (p.Gly160=)
| |
13 | g.20189103C>G | CA387461060 | GJB2 | c.479G>C (p.Gly160Ala)
| |
13 | g.20189103C>T | CA246460068 | GJB2 | c.479G>A (p.Gly160Asp)
| dbSNP gnomAD v4 |
13 | g.20189104C>A | CA387461061 | GJB2 | c.478G>T (p.Gly160Cys)
| |
13 | g.20189104C= | CA2077139101 | GJB2 | c.478G= (p.Gly160=)
| |
13 | g.20189104C>G | CA387461062 | GJB2 | c.478G>C (p.Gly160Arg)
| |
13 | g.20189104C>T | CA134977 | GJB2 | c.478G>A (p.Gly160Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189105_20189106insGCG | CA2622252282 | GJB2 | c.478_479insCCG (p.Asp159_Gly160insAla)
| gnomAD v4 |
13 | g.20189105G>A | CA246460077 | GJB2 | c.477C>T (p.Asp159=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189105G>C | CA387461063 | GJB2 | c.477C>G (p.Asp159Glu)
| |
13 | g.20189105G= | CA2077139105 | GJB2 | c.477C= (p.Asp159=)
| |
13 | g.20189105G>T | CA387461064 | GJB2 | c.477C>A (p.Asp159Glu)
| |
13 | g.20189106T>A | CA257680 | GJB2 | c.476A>T (p.Asp159Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189106T>C | CA387461066 | GJB2 | c.476A>G (p.Asp159Gly)
| |
13 | g.20189106T>G | CA387461065 | GJB2 | c.476A>C (p.Asp159Ala)
| |
13 | g.20189106T= | CA2077139110 | GJB2 | c.476A= (p.Asp159=)
| |
13 | g.20189107C>A | CA6904260 | GJB2 | c.475G>T (p.Asp159Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189107C= | CA2077139117 | GJB2 | c.475G= (p.Asp159=)
| |
13 | g.20189107C>G | CA387461067 | GJB2 | c.475G>C (p.Asp159His)
| |
13 | g.20189107C>T | CA6904259 | GJB2 | c.475G>A (p.Asp159Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189116_20189133dup | CA2077139122 | GJB2 | c.458_475dup (p.Tyr158_Asp159insValPheTyrValMetTyr)
| ClinVar dbSNP |
13 | g.20189108G>A | CA6904261 | GJB2 | c.474C>T (p.Tyr158=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189108G>C | CA387461068 | GJB2 | c.474C>G (p.Tyr158Ter)
| ClinVar dbSNP |
13 | g.20189108G= | CA2077139129 | GJB2 | c.474C= (p.Tyr158=)
| |
13 | g.20189108G>T | CA387461069 | GJB2 | c.474C>A (p.Tyr158Ter)
| |
13 | g.20189109T>A | CA387461070 | GJB2 | c.473A>T (p.Tyr158Phe)
| |
13 | g.20189109T>C | CA387461071 | GJB2 | c.473A>G (p.Tyr158Cys)
| |
13 | g.20189109T>G | CA387461072 | GJB2 | c.473A>C (p.Tyr158Ser)
| |
13 | g.20189110A>C | CA387461073 | GJB2 | c.472T>G (p.Tyr158Asp)
| |
13 | g.20189110A>G | CA387461074 | GJB2 | c.472T>C (p.Tyr158His)
| |
13 | g.20189110A>T | CA387461075 | GJB2 | c.472T>A (p.Tyr158Asn)
| |
13 | g.20189111C>A | CA387461077 | GJB2 | c.471G>T (p.Met157Ile)
| |
13 | g.20189111C= | CA2077139136 | GJB2 | c.471G= (p.Met157=)
| |
13 | g.20189111C>G | CA387461076 | GJB2 | c.471G>C (p.Met157Ile)
| gnomAD v4 |
13 | g.20189111C>T | CA6904262 | GJB2 | c.471G>A (p.Met157Ile)
| dbSNP ExAC gnomAD v2 |
13 | g.20189112A= | CA2077139141 | GJB2 | c.470T= (p.Met157=)
| |
13 | g.20189112A>C | CA387461078 | GJB2 | c.470T>G (p.Met157Arg)
| |
13 | g.20189112A>G | CA184190 | GJB2 | c.470T>C (p.Met157Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189112A>T | CA387461079 | GJB2 | c.470T>A (p.Met157Lys)
| |
13 | g.20189113T>A | CA387461080 | GJB2 | c.469A>T (p.Met157Leu)
| |
13 | g.20189113T>C | CA387461081 | GJB2 | c.469A>G (p.Met157Val)
| |
13 | g.20189113T>G | CA387461082 | GJB2 | c.469A>C (p.Met157Leu)
| |
13 | g.20189114G>A | CA483153942 | GJB2 | c.468C>T (p.Val156=)
| ClinVar dbSNP |
13 | g.20189114G>C | CA483153943 | GJB2 | c.468C>G (p.Val156=)
| |
13 | g.20189114G>T | CA483153944 | GJB2 | c.468C>A (p.Val156=)
| |
13 | g.20189115A>C | CA387461083 | GJB2 | c.467T>G (p.Val156Gly)
| gnomAD v4 |
13 | g.20189115A>G | CA387461084 | GJB2 | c.467T>C (p.Val156Ala)
| |
13 | g.20189115A>T | CA387461085 | GJB2 | c.467T>A (p.Val156Asp)
| |
13 | g.20189116C>A | CA387461086 | GJB2 | c.466G>T (p.Val156Phe)
| |
13 | g.20189116C= | CA2077139146 | GJB2 | c.466G= (p.Val156=)
| |
13 | g.20189116C>G | CA387461087 | GJB2 | c.466G>C (p.Val156Leu)
| |
13 | g.20189116C>T | CA387461088 | GJB2 | c.466G>A (p.Val156Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189117A= | CA2077139152 | GJB2 | c.465T= (p.Tyr155=)
| |
13 | g.20189117A>C | CA387461089 | GJB2 | c.465T>G (p.Tyr155Ter)
| |
13 | g.20189117A>G | CA483153945 | GJB2 | c.465T>C (p.Tyr155=)
| |
13 | g.20189117A>T | CA275075 | GJB2 | c.465T>A (p.Tyr155Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189118_20189119del | CA2695217663 | GJB2 | c.464_465del (p.Tyr155CysfsTer?)
| |
13 | g.20189118T>A | CA387461090 | GJB2 | c.464A>T (p.Tyr155Phe)
| |
13 | g.20189118T>C | CA6904263 | GJB2 | c.464A>G (p.Tyr155Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189118T>G | CA387461091 | GJB2 | c.464A>C (p.Tyr155Ser)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189118T= | CA2077139158 | GJB2 | c.464A= (p.Tyr155=)
| |
13 | g.20189119A>C | CA387461092 | GJB2 | c.463T>G (p.Tyr155Asp)
| |
13 | g.20189119A>G | CA387461093 | GJB2 | c.463T>C (p.Tyr155His)
| |
13 | g.20189119A>T | CA387461094 | GJB2 | c.463T>A (p.Tyr155Asn)
| |
13 | g.20189120G>A | CA483153946 | GJB2 | c.462C>T (p.Phe154=)
| |
13 | g.20189120G>C | CA387461095 | GJB2 | c.462C>G (p.Phe154Leu)
| |
13 | g.20189120G>T | CA387461096 | GJB2 | c.462C>A (p.Phe154Leu)
| |
13 | g.20189121A>C | CA387461097 | GJB2 | c.461T>G (p.Phe154Cys)
| |
13 | g.20189121A>G | CA387461098 | GJB2 | c.461T>C (p.Phe154Ser)
| |
13 | g.20189121A>T | CA387461099 | GJB2 | c.461T>A (p.Phe154Tyr)
| |
13 | g.20189122A>C | CA387461100 | GJB2 | c.460T>G (p.Phe154Val)
| |
13 | g.20189122A>G | CA387461101 | GJB2 | c.460T>C (p.Phe154Leu)
| |
13 | g.20189122A>T | CA387461102 | GJB2 | c.460T>A (p.Phe154Ile)
| |
13 | g.20189122_20189129delinsGTCTTCTCT | CA2580086788 | GJB2 | c.453_460delinsAGAGAAGAC (p.Met151IlefsTer?)
| ClinVar |
13 | g.20189123G>A | CA483153947 | GJB2 | c.459C>T (p.Val153=)
| |
13 | g.20189123G>C | CA483153948 | GJB2 | c.459C>G (p.Val153=)
| |
13 | g.20189123G>T | CA483153949 | GJB2 | c.459C>A (p.Val153=)
| |
13 | g.20189124A>C | CA387461105 | GJB2 | c.458T>G (p.Val153Gly)
| |
13 | g.20189124A>G | CA387461103 | GJB2 | c.458T>C (p.Val153Ala)
| ClinVar |
13 | g.20189124A>T | CA387461104 | GJB2 | c.458T>A (p.Val153Asp)
| |
13 | g.20189125C>A | CA387461106 | GJB2 | c.457G>T (p.Val153Phe)
| dbSNP gnomAD v4 |
13 | g.20189125C= | CA2077139163 | GJB2 | c.457G= (p.Val153=)
| |
13 | g.20189125C>G | CA387461107 | GJB2 | c.457G>C (p.Val153Leu)
| |
13 | g.20189125C>T | CA134975 | GJB2 | c.457G>A (p.Val153Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189126G>A | CA483153950 | GJB2 | c.456C>T (p.Tyr152=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189126G>C | CA387461108 | GJB2 | c.456C>G (p.Tyr152Ter)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189126G= | CA2077139170 | GJB2 | c.456C= (p.Tyr152=)
| |
13 | g.20189126G>T | CA261651 | GJB2 | c.456C>A (p.Tyr152Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189127T>A | CA387461109 | GJB2 | c.455A>T (p.Tyr152Phe)
| gnomAD v4 |
13 | g.20189127T>C | CA387461110 | GJB2 | c.455A>G (p.Tyr152Cys)
| |
13 | g.20189127T>G | CA387461111 | GJB2 | c.455A>C (p.Tyr152Ser)
| |
13 | g.20189128A= | CA2077139176 | GJB2 | c.454T= (p.Tyr152=)
| |
13 | g.20189128A>C | CA387461112 | GJB2 | c.454T>G (p.Tyr152Asp)
| dbSNP |
13 | g.20189128A>G | CA387461113 | GJB2 | c.454T>C (p.Tyr152His)
| gnomAD v4 |
13 | g.20189128A>T | CA387461114 | GJB2 | c.454T>A (p.Tyr152Asn)
| |
13 | g.20189129C>A | CA387461115 | GJB2 | c.453G>T (p.Met151Ile)
| |
13 | g.20189129C= | CA2077139179 | GJB2 | c.453G= (p.Met151=)
| |
13 | g.20189129C>G | CA387461116 | GJB2 | c.453G>C (p.Met151Ile)
| |
13 | g.20189129C>T | CA6904264 | GJB2 | c.453G>A (p.Met151Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189129dup | CA2842434864 | GJB2 | c.453dup (p.Tyr152ValfsTer?)
| |
13 | g.20189130A= | CA2077139183 | GJB2 | c.452T= (p.Met151=)
| |
13 | g.20189130A>C | CA387461117 | GJB2 | c.452T>G (p.Met151Arg)
| |
13 | g.20189130A>G | CA6904265 | GJB2 | c.452T>C (p.Met151Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189130A>T | CA387461118 | GJB2 | c.452T>A (p.Met151Lys)
| |
13 | g.20189131T>A | CA387461119 | GJB2 | c.451A>T (p.Met151Leu)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189131T>C | CA387461120 | GJB2 | c.451A>G (p.Met151Val)
| dbSNP gnomAD v4 |
13 | g.20189131T>G | CA387461121 | GJB2 | c.451A>C (p.Met151Leu)
| |
13 | g.20189131T= | CA2077139186 | GJB2 | c.451A= (p.Met151=)
| |
13 | g.20189132G>A | CA483153951 | GJB2 | c.450C>T (p.Phe150=)
| gnomAD v4 |
13 | g.20189132G>C | CA387461123 | GJB2 | c.450C>G (p.Phe150Leu)
| |
13 | g.20189132G>T | CA387461122 | GJB2 | c.450C>A (p.Phe150Leu)
| COSMIC |
13 | g.20189132_20189151del | CA2695217664 | GJB2 | c.431_450del (p.Val144AspfsTer?)
| |
13 | g.20189133A= | CA2077139188 | GJB2 | c.449T= (p.Phe150=)
| |
13 | g.20189133A>C | CA387461124 | GJB2 | c.449T>G (p.Phe150Cys)
| |
13 | g.20189133A>G | CA387461125 | GJB2 | c.449T>C (p.Phe150Ser)
| |
13 | g.20189133A>T | CA387461126 | GJB2 | c.449T>A (p.Phe150Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189134del | CA2580086789 | GJB2 | c.449del (p.Phe150SerfsTer18)
| ClinVar |
13 | g.20189133_20189151del | CA2695217665 | GJB2 | c.431_449del (p.Val144AlafsTer18)
| |
13 | g.20189134A= | CA2077139190 | GJB2 | c.448T= (p.Phe150=)
| |
13 | g.20189134A>C | CA387461127 | GJB2 | c.448T>G (p.Phe150Val)
| |
13 | g.20189134A>G | CA387461128 | GJB2 | c.448T>C (p.Phe150Leu)
| |
13 | g.20189134A>T | CA6904266 | GJB2 | c.448T>A (p.Phe150Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189135G>A | CA483153952 | GJB2 | c.447C>T (p.Ala149=)
| ClinVar |
13 | g.20189135G>C | CA483153953 | GJB2 | c.447C>G (p.Ala149=)
| |
13 | g.20189135G>T | CA483153954 | GJB2 | c.447C>A (p.Ala149=)
| ClinVar dbSNP |
13 | g.20189136G>A | CA387461129 | GJB2 | c.446C>T (p.Ala149Val)
| gnomAD v4 |
13 | g.20189136G>C | CA387461131 | GJB2 | c.446C>G (p.Ala149Gly)
| |
13 | g.20189136G>T | CA387461130 | GJB2 | c.446C>A (p.Ala149Asp)
| ClinVar dbSNP |
13 | g.20189137C>A | CA6904267 | GJB2 | c.445G>T (p.Ala149Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189137C= | CA2077139196 | GJB2 | c.445G= (p.Ala149=)
| |
13 | g.20189137C>G | CA387461132 | GJB2 | c.445G>C (p.Ala149Pro)
| |
13 | g.20189137C>T | CA134973 | GJB2 | c.445G>A (p.Ala149Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189138G>A | CA6904268 | GJB2 | c.444C>T (p.Ala148=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189138G>C | CA483153956 | GJB2 | c.444C>G (p.Ala148=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189138G= | CA2077139202 | GJB2 | c.444C= (p.Ala148=)
| |
13 | g.20189138G>T | CA483153955 | GJB2 | c.444C>A (p.Ala148=)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189139del | CA2695217666 | GJB2 | c.444del (p.Ala149ProfsTer19)
| |
13 | g.20189139G>A | CA387461133 | GJB2 | c.443C>T (p.Ala148Val)
| COSMIC |
13 | g.20189139G>C | CA387461134 | GJB2 | c.443C>G (p.Ala148Gly)
| |
13 | g.20189139G>T | CA387461135 | GJB2 | c.443C>A (p.Ala148Asp)
| |
13 | g.20189140C>A | CA387461136 | GJB2 | c.442G>T (p.Ala148Ser)
| COSMIC |
13 | g.20189140C>G | CA387461137 | GJB2 | c.442G>C (p.Ala148Pro)
| |
13 | g.20189140C>T | CA387461138 | GJB2 | c.442G>A (p.Ala148Thr)
| |
13 | g.20189141T>A | CA387461139 | GJB2 | c.441A>T (p.Glu147Asp)
| |
13 | g.20189141T>C | CA483153957 | GJB2 | c.441A>G (p.Glu147=)
| ClinVar |
13 | g.20189141T>G | CA387461140 | GJB2 | c.441A>C (p.Glu147Asp)
| |
13 | g.20189142T>A | CA387461143 | GJB2 | c.440A>T (p.Glu147Val)
| |
13 | g.20189142T>C | CA387461142 | GJB2 | c.440A>G (p.Glu147Gly)
| ClinVar dbSNP |
13 | g.20189142T>G | CA387461141 | GJB2 | c.440A>C (p.Glu147Ala)
| |
13 | g.20189142T= | CA2077139207 | GJB2 | c.440A= (p.Glu147=)
| |
13 | g.20189143C>A | CA387461145 | GJB2 | c.439G>T (p.Glu147Ter)
| |
13 | g.20189143C= | CA2077139213 | GJB2 | c.439G= (p.Glu147=)
| |
13 | g.20189143C>G | CA387461144 | GJB2 | c.439G>C (p.Glu147Gln)
| |
13 | g.20189143C>T | CA6904269 | GJB2 | c.439G>A (p.Glu147Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189144G>A | CA6904270 | GJB2 | c.438C>T (p.Phe146=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189144G>C | CA387461147 | GJB2 | c.438C>G (p.Phe146Leu)
| COSMIC |
13 | g.20189144G= | CA2077139219 | GJB2 | c.438C= (p.Phe146=)
| |
13 | g.20189144G>T | CA387461146 | GJB2 | c.438C>A (p.Phe146Leu)
| |
13 | g.20189145A>C | CA387461148 | GJB2 | c.437T>G (p.Phe146Cys)
| |
13 | g.20189145A>G | CA387461149 | GJB2 | c.437T>C (p.Phe146Ser)
| |
13 | g.20189145A>T | CA387461150 | GJB2 | c.437T>A (p.Phe146Tyr)
| |
13 | g.20189146A>C | CA387461151 | GJB2 | c.436T>G (p.Phe146Val)
| |
13 | g.20189146A>G | CA387461152 | GJB2 | c.436T>C (p.Phe146Leu)
| |
13 | g.20189146A>T | CA387461153 | GJB2 | c.436T>A (p.Phe146Ile)
| |
13 | g.20189147_20189148del | CA2695217667 | GJB2 | c.435_436del (p.Phe146ArgfsTer?)
| |
13 | g.20189146_20189149delinsAGAT | CA2077139221 | GJB2 | c.433_436delinsATCT (p.Ile145=)
| |
13 | g.20189147G>A | CA483153958 | GJB2 | c.435C>T (p.Ile145=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189147G>C | CA387461154 | GJB2 | c.435C>G (p.Ile145Met)
| |
13 | g.20189147G= | CA2077139228 | GJB2 | c.435C= (p.Ile145=)
| |
13 | g.20189147G>T | CA483153959 | GJB2 | c.435C>A (p.Ile145=)
| |
13 | g.20189149_20189151del | CA246460156 | GJB2 | c.433_435del (p.Ile145del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189148A>C | CA387461155 | GJB2 | c.434T>G (p.Ile145Ser)
| |
13 | g.20189148A>G | CA387461156 | GJB2 | c.434T>C (p.Ile145Thr)
| |
13 | g.20189148A>T | CA387461157 | GJB2 | c.434T>A (p.Ile145Asn)
| |
13 | g.20189149T>A | CA387461158 | GJB2 | c.433A>T (p.Ile145Phe)
| |
13 | g.20189149T>C | CA387461159 | GJB2 | c.433A>G (p.Ile145Val)
| |
13 | g.20189149T>G | CA387461160 | GJB2 | c.433A>C (p.Ile145Leu)
| |
13 | g.20189150G>A | CA483153960 | GJB2 | c.432C>T (p.Val144=)
| ClinVar |
13 | g.20189150G>C | CA483153961 | GJB2 | c.432C>G (p.Val144=)
| |
13 | g.20189150G>T | CA483153962 | GJB2 | c.432C>A (p.Val144=)
| ClinVar gnomAD v4 |
13 | g.20189151A>C | CA387461163 | GJB2 | c.431T>G (p.Val144Gly)
| |
13 | g.20189151A>G | CA387461162 | GJB2 | c.431T>C (p.Val144Ala)
| |
13 | g.20189151A>T | CA387461161 | GJB2 | c.431T>A (p.Val144Asp)
| |
13 | g.20189152C>A | CA387461164 | GJB2 | c.430G>T (p.Val144Phe)
| |
13 | g.20189152C= | CA2077139234 | GJB2 | c.430G= (p.Val144=)
| |
13 | g.20189152C>G | CA387461165 | GJB2 | c.430G>C (p.Val144Leu)
| gnomAD v4 |
13 | g.20189152C>T | CA387461166 | GJB2 | c.430G>A (p.Val144Ile)
| dbSNP |
13 | g.20189153C>A | CA483153963 | GJB2 | c.429G>T (p.Arg143=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189153C>G | CA483153964 | GJB2 | c.429G>C (p.Arg143=)
| |
13 | g.20189153C>T | CA483153965 | GJB2 | c.429G>A (p.Arg143=)
| gnomAD v4 |
13 | g.20189154C>A | CA387461167 | GJB2 | c.428G>T (p.Arg143Leu)
| gnomAD v4 |
13 | g.20189154C= | CA2077139238 | GJB2 | c.428G= (p.Arg143=)
| |
13 | g.20189154C>G | CA387461168 | GJB2 | c.428G>C (p.Arg143Pro)
| |
13 | g.20189154C>T | CA257677 | GJB2 | c.428G>A (p.Arg143Gln)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189155G>A | CA172234 | GJB2 | c.427C>T (p.Arg143Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189155G>C | CA387461169 | GJB2 | c.427C>G (p.Arg143Gly)
| |
13 | g.20189155G= | CA2077139242 | GJB2 | c.427C= (p.Arg143=)
| |
13 | g.20189155G>T | CA483153966 | GJB2 | c.427C>A (p.Arg143=)
| |
13 | g.20189156G>A | CA483153967 | GJB2 | c.426C>T (p.Phe142=)
| gnomAD v4 |
13 | g.20189156G>C | CA387461170 | GJB2 | c.426C>G (p.Phe142Leu)
| |
13 | g.20189156G= | CA2077139248 | GJB2 | c.426C= (p.Phe142=)
| |
13 | g.20189156G>T | CA261647 | GJB2 | c.426C>A (p.Phe142Leu)
| ClinVar dbSNP |
13 | g.20189161_20189163del | CA2580614612 | GJB2 | c.424_426del (p.Phe142del)
| ClinVar |
13 | g.20189157A= | CA2077139253 | GJB2 | c.425T= (p.Phe142=)
| |
13 | g.20189157A>C | CA387461171 | GJB2 | c.425T>G (p.Phe142Cys)
| gnomAD v4 |
13 | g.20189157A>G | CA6904271 | GJB2 | c.425T>C (p.Phe142Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189157A>T | CA387461172 | GJB2 | c.425T>A (p.Phe142Tyr)
| |
13 | g.20189158A>C | CA387461174 | GJB2 | c.424T>G (p.Phe142Val)
| |
13 | g.20189158A>G | CA387461175 | GJB2 | c.424T>C (p.Phe142Leu)
| |
13 | g.20189158A>T | CA387461173 | GJB2 | c.424T>A (p.Phe142Ile)
| |
13 | g.20189159G>A | CA483153968 | GJB2 | c.423C>T (p.Phe141=)
| ClinVar gnomAD v4 |
13 | g.20189159G>C | CA387461176 | GJB2 | c.423C>G (p.Phe141Leu)
| COSMIC |
13 | g.20189159G>T | CA387461177 | GJB2 | c.423C>A (p.Phe141Leu)
| |
13 | g.20189160A>C | CA387461178 | GJB2 | c.422T>G (p.Phe141Cys)
| |
13 | g.20189160A>G | CA387461179 | GJB2 | c.422T>C (p.Phe141Ser)
| |
13 | g.20189160A>T | CA387461180 | GJB2 | c.422T>A (p.Phe141Tyr)
| |
13 | g.20189161A>C | CA387461181 | GJB2 | c.421T>G (p.Phe141Val)
| |
13 | g.20189161A>G | CA387461182 | GJB2 | c.421T>C (p.Phe141Leu)
| |
13 | g.20189161A>T | CA387461183 | GJB2 | c.421T>A (p.Phe141Ile)
| |
13 | g.20189162G>A | CA483153969 | GJB2 | c.420C>T (p.Ile140=)
| ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.20189162G>C | CA387461184 | GJB2 | c.420C>G (p.Ile140Met)
| |
13 | g.20189162G= | CA2077139258 | GJB2 | c.420C= (p.Ile140=)
| |
13 | g.20189162G>T | CA483153970 | GJB2 | c.420C>A (p.Ile140=)
| dbSNP gnomAD v2 |
13 | g.20189163A>C | CA387461185 | GJB2 | c.419T>G (p.Ile140Ser)
| ClinVar |
13 | g.20189163A>G | CA387461186 | GJB2 | c.419T>C (p.Ile140Thr)
| |
13 | g.20189163A>T | CA387461187 | GJB2 | c.419T>A (p.Ile140Asn)
| |
13 | g.20189164T>A | CA387461190 | GJB2 | c.418A>T (p.Ile140Phe)
| |
13 | g.20189164T>C | CA387461188 | GJB2 | c.418A>G (p.Ile140Val)
| |
13 | g.20189164T>G | CA387461189 | GJB2 | c.418A>C (p.Ile140Leu)
| |
13 | g.20189165G>A | CA483153971 | GJB2 | c.417C>T (p.Ser139=)
| |
13 | g.20189165G>C | CA387461191 | GJB2 | c.417C>G (p.Ser139Arg)
| |
13 | g.20189165G>T | CA387461192 | GJB2 | c.417C>A (p.Ser139Arg)
| |
13 | g.20189165dup | CA2842434865 | GJB2 | c.417dup (p.Ile140HisfsTer?)
| |
13 | g.20189166C>A | CA387461193 | GJB2 | c.416G>T (p.Ser139Ile)
| |
13 | g.20189166C= | CA2077139263 | GJB2 | c.416G= (p.Ser139=)
| |
13 | g.20189166C>G | CA387461194 | GJB2 | c.416G>C (p.Ser139Thr)
| |
13 | g.20189166C>T | CA172232 | GJB2 | c.416G>A (p.Ser139Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189167T>A | CA387461195 | GJB2 | c.415A>T (p.Ser139Cys)
| ClinVar dbSNP |
13 | g.20189167T>C | CA387461196 | GJB2 | c.415A>G (p.Ser139Gly)
| |
13 | g.20189167T>G | CA387461197 | GJB2 | c.415A>C (p.Ser139Arg)
| |
13 | g.20189167T= | CA2077139269 | GJB2 | c.415A= (p.Ser139=)
| |
13 | g.20189167dup | CA2838202765 | GJB2 | c.415dup (p.Ser139LysfsTer?)
| |
13 | g.20189168G>A | CA483153972 | GJB2 | c.414C>T (p.Ser138=)
| |
13 | g.20189168G>C | CA387461198 | GJB2 | c.414C>G (p.Ser138Arg)
| |
13 | g.20189168G>T | CA387461199 | GJB2 | c.414C>A (p.Ser138Arg)
| |
13 | g.20189169C>A | CA387461202 | GJB2 | c.413G>T (p.Ser138Ile)
| |
13 | g.20189169C>G | CA387461201 | GJB2 | c.413G>C (p.Ser138Thr)
| |
13 | g.20189169C>T | CA387461200 | GJB2 | c.413G>A (p.Ser138Asn)
| gnomAD v4 |
13 | g.20189170T>A | CA387461203 | GJB2 | c.412A>T (p.Ser138Cys)
| |
13 | g.20189170T>C | CA134971 | GJB2 | c.412A>G (p.Ser138Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189170T>G | CA387461204 | GJB2 | c.412A>C (p.Ser138Arg)
| |
13 | g.20189170T= | CA2077139274 | GJB2 | c.412A= (p.Ser138=)
| |
13 | g.20189171T>A | CA483153975 | GJB2 | c.411A>T (p.Thr137=)
| |
13 | g.20189171T>C | CA483153973 | GJB2 | c.411A>G (p.Thr137=)
| |
13 | g.20189171T>G | CA483153974 | GJB2 | c.411A>C (p.Thr137=)
| |
13 | g.20189172del | CA2622252287 | GJB2 | c.410del (p.Thr137LysfsTer?)
| gnomAD v4 |
13 | g.20189172G>A | CA387461205 | GJB2 | c.410C>T (p.Thr137Ile)
| dbSNP |
13 | g.20189172G>C | CA387461206 | GJB2 | c.410C>G (p.Thr137Arg)
| ClinVar dbSNP |
13 | g.20189172G= | CA2077139277 | GJB2 | c.410C= (p.Thr137=)
| |
13 | g.20189172G>T | CA387461207 | GJB2 | c.410C>A (p.Thr137Lys)
| |
13 | g.20189173T>A | CA387461210 | GJB2 | c.409A>T (p.Thr137Ser)
| |
13 | g.20189173T>C | CA387461209 | GJB2 | c.409A>G (p.Thr137Ala)
| |
13 | g.20189173T>G | CA387461208 | GJB2 | c.409A>C (p.Thr137Pro)
| ClinVar dbSNP |
13 | g.20189173dup | CA2695217668 | GJB2 | c.409dup (p.Thr137AsnfsTer?)
| |
13 | g.20189174G>A | CA483153976 | GJB2 | c.408C>T (p.Tyr136=)
| |
13 | g.20189174G>C | CA387461211 | GJB2 | c.408C>G (p.Tyr136Ter)
| |
13 | g.20189174G= | CA2077139285 | GJB2 | c.408C= (p.Tyr136=)
| |
13 | g.20189174G>T | CA274369 | GJB2 | c.408C>A (p.Tyr136Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.[20189174G>T;20189448C>T] | CA645372924 | GJB2 | c.[134G>A;408C>A] (p.[Gly45Glu;Tyr136Ter])
| |
13 | g.20189175T>A | CA387461212 | GJB2 | c.407A>T (p.Tyr136Phe)
| |
13 | g.20189175T>C | CA387461213 | GJB2 | c.407A>G (p.Tyr136Cys)
| |
13 | g.20189175T>G | CA387461214 | GJB2 | c.407A>C (p.Tyr136Ser)
| |
13 | g.20189175dup | CA6904272 | GJB2 | c.407dup (p.Tyr136Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189176A>C | CA387461215 | GJB2 | c.406T>G (p.Tyr136Asp)
| |
13 | g.20189176A>G | CA387461217 | GJB2 | c.406T>C (p.Tyr136His)
| |
13 | g.20189176A>T | CA387461216 | GJB2 | c.406T>A (p.Tyr136Asn)
| |
13 | g.20189176_20189177delinsAG | CA2077139293 | GJB2 | c.405_406delinsCT (p.Thr135=)
| |
13 | g.20189177G>A | CA483153977 | GJB2 | c.405C>T (p.Thr135=)
| ClinVar |
13 | g.20189177G>C | CA483153978 | GJB2 | c.405C>G (p.Thr135=)
| |
13 | g.20189177G>T | CA483153979 | GJB2 | c.405C>A (p.Thr135=)
| |
13 | g.20189178del | CA953781636 | GJB2 | c.405del (p.Tyr136ThrfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189177_20189178insTTGAACTCCTGGGCTCAAGTGATCCTCTC | CA2622252288 | GJB2 | c.404_405insGAGAGGATCACTTGAGCCCAGGAGTTCAA (p.Tyr136ArgfsTer?)
| gnomAD v4 |
13 | g.20189178G>A | CA387461218 | GJB2 | c.404C>T (p.Thr135Ile)
| |
13 | g.20189178G>C | CA387461219 | GJB2 | c.404C>G (p.Thr135Ser)
| |
13 | g.20189178G>T | CA387461220 | GJB2 | c.404C>A (p.Thr135Asn)
| |
13 | g.20189178_20189181delinsGTCC | CA2077139298 | GJB2 | c.401_404delinsGGAC (p.Trp134=)
| |
13 | g.20189179del | CA2622252289 | GJB2 | c.403del (p.Thr135ProfsTer?)
| gnomAD v4 |
13 | g.20189179T>A | CA387461221 | GJB2 | c.403A>T (p.Thr135Ser)
| |
13 | g.20189179T>C | CA387461222 | GJB2 | c.403A>G (p.Thr135Ala)
| |
13 | g.20189179T>G | CA387461223 | GJB2 | c.403A>C (p.Thr135Pro)
| |
13 | g.20189179_20189180delinsTC | CA2077139306 | GJB2 | c.402_403delinsGA (p.Trp134=)
| |
13 | g.20189179_20189181del | CA658656318 | GJB2 | c.401_403del (p.Trp134_Thr135delinsSer)
| ClinVar dbSNP |
13 | g.20189180C>A | CA246460170 | GJB2 | c.402G>T (p.Trp134Cys)
| dbSNP gnomAD v4 |
13 | g.20189180C= | CA2077139313 | GJB2 | c.402G= (p.Trp134=)
| |
13 | g.20189180C>G | CA387461224 | GJB2 | c.402G>C (p.Trp134Cys)
| |
13 | g.20189180C>T | CA387461225 | GJB2 | c.402G>A (p.Trp134Ter)
| |
13 | g.20189181del | CA483153980 | GJB2 | c.402del (p.Trp134Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |