Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.20189386C>ACA387461647GJB2c.196G>T (p.Asp66Tyr)
ClinVar dbSNP
13g.20189386C=CA2077140020GJB2c.196G= (p.Asp66=)
13g.20189386C>GCA127024GJB2c.196G>C (p.Asp66His)
ClinVar dbSNP
13g.20189386C>TCA387461646GJB2c.196G>A (p.Asp66Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189387G>ACA6904304GJB2c.195C>T (p.Tyr65=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189387G>CCA387461648GJB2c.195C>G (p.Tyr65Ter)
ClinVar dbSNP gnomAD v4
13g.20189387G=CA2077140027GJB2c.195C= (p.Tyr65=)
13g.20189387G>TCA387461649GJB2c.195C>A (p.Tyr65Ter)
ClinVar dbSNP gnomAD v4
13g.20189388T>ACA387461650GJB2c.194A>T (p.Tyr65Phe)
13g.20189388T>CCA261639GJB2c.194A>G (p.Tyr65Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189388T>GCA387461651GJB2c.194A>C (p.Tyr65Ser)
13g.20189388T=CA2077140033GJB2c.194A= (p.Tyr65=)
13g.20189389A=CA2077140037GJB2c.193T= (p.Tyr65=)
13g.20189389A>CCA387461652GJB2c.193T>G (p.Tyr65Asp)
13g.20189389A>GCA10586212GJB2c.193T>C (p.Tyr65His)
ClinVar dbSNP
13g.20189389A>TCA387461653GJB2c.193T>A (p.Tyr65Asn)
13g.20189390G>ACA483153826GJB2c.192C>T (p.Cys64=)
13g.20189390G>CCA387461654GJB2c.192C>G (p.Cys64Trp)
13g.20189390G>TCA387461655GJB2c.192C>A (p.Cys64Ter)
13g.20189390_20189406delinsGCACACGTTCTTGCAGCCA2077140040GJB2c.176_192delinsGCTGCAAGAACGTGTGC (p.Gly59=)
13g.20189391C>ACA387461657GJB2c.191G>T (p.Cys64Phe)
13g.20189391C>GCA387461658GJB2c.191G>C (p.Cys64Ser)
13g.20189391C>TCA387461656GJB2c.191G>A (p.Cys64Tyr)
gnomAD v4
13g.20189392_20189407delCA6904305GJB2c.176_191del (p.Gly59AlafsTer18)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189392A>CCA387461659GJB2c.190T>G (p.Cys64Gly)
13g.20189392A>GCA387461660GJB2c.190T>C (p.Cys64Arg)
13g.20189392A>TCA387461661GJB2c.190T>A (p.Cys64Ser)
13g.20189393C>ACA483153830GJB2c.189G>T (p.Val63=)
ClinVar dbSNP
13g.20189393C=CA2077140046GJB2c.189G= (p.Val63=)
13g.20189393C>GCA483153828GJB2c.189G>C (p.Val63=)
13g.20189393C>TCA483153829GJB2c.189G>A (p.Val63=)
13g.20189394A=CA2077140050GJB2c.188T= (p.Val63=)
13g.20189394A>CCA387461662GJB2c.188T>G (p.Val63Gly)
13g.20189394A>GCA180700GJB2c.188T>C (p.Val63Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189394A>TCA387461663GJB2c.188T>A (p.Val63Glu)
13g.20189395delCA2695217716GJB2c.187del (p.Val63CysfsTer19)
13g.20189395C>ACA6904306GJB2c.187G>T (p.Val63Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189395C=CA2077140055GJB2c.187G= (p.Val63=)
13g.20189395C>GCA387461664GJB2c.187G>C (p.Val63Leu)
13g.20189395C>TCA222244GJB2c.187G>A (p.Val63Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189396G>ACA134949GJB2c.186C>T (p.Asn62=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.20189396G>CCA387461665GJB2c.186C>G (p.Asn62Lys)
13g.20189396G=CA2077140061GJB2c.186C= (p.Asn62=)
13g.20189396G>TCA387461666GJB2c.186C>A (p.Asn62Lys)
dbSNP gnomAD v3 gnomAD v4
13g.20189397T>ACA387461667GJB2c.185A>T (p.Asn62Ile)
13g.20189397T>CCA387461668GJB2c.185A>G (p.Asn62Ser)
dbSNP gnomAD v2 gnomAD v4
13g.20189397T>GCA387461669GJB2c.185A>C (p.Asn62Thr)
13g.20189397T=CA2077140069GJB2c.185A= (p.Asn62=)
13g.20189397_20189398insACA2695217717GJB2c.184_185insT (p.Asn62IlefsTer?)
13g.20189398T>ACA387461671GJB2c.184A>T (p.Asn62Tyr)

Number of alleles fetched