Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17553136A=CA1955197599OTOGc.346A= (p.Asn116=)
c.310A= (p.Asn104=)
c.127A= (p.Asn43=)
n.216A=
11g.17553136A>CCA379810492OTOGc.346A>C (p.Asn116His)
c.310A>C (p.Asn104His)
c.127A>C (p.Asn43His)
n.216A>C
11g.17553136A>GCA5905335OTOGc.346A>G (p.Asn116Asp)
c.310A>G (p.Asn104Asp)
c.127A>G (p.Asn43Asp)
n.216A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553136A>TCA379810496OTOGc.346A>T (p.Asn116Tyr)
c.310A>T (p.Asn104Tyr)
c.127A>T (p.Asn43Tyr)
n.216A>T
11g.17553137A=CA1955197600OTOGc.347A= (p.Asn116=)
c.311A= (p.Asn104=)
c.128A= (p.Asn43=)
n.217A=
11g.17553137A>CCA379810503OTOGc.347A>C (p.Asn116Thr)
c.311A>C (p.Asn104Thr)
c.128A>C (p.Asn43Thr)
n.217A>C
11g.17553137A>GCA5905336OTOGc.347A>G (p.Asn116Ser)
c.311A>G (p.Asn104Ser)
c.128A>G (p.Asn43Ser)
n.217A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553137A>TCA379810500OTOGc.347A>T (p.Asn116Ile)
c.311A>T (p.Asn104Ile)
c.128A>T (p.Asn43Ile)
n.217A>T
 dbSNP gnomAD v3 gnomAD v4
11g.17553138T>ACA379810512OTOGc.348T>A (p.Asn116Lys)
c.312T>A (p.Asn104Lys)
c.129T>A (p.Asn43Lys)
n.218T>A
11g.17553138T>CCA5905337OTOGc.348T>C (p.Asn116=)
c.312T>C (p.Asn104=)
c.129T>C (p.Asn43=)
n.218T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17553138T>GCA379810517OTOGc.348T>G (p.Asn116Lys)
c.312T>G (p.Asn104Lys)
c.129T>G (p.Asn43Lys)
n.218T>G
11g.17553138T=CA1955197601OTOGc.348T= (p.Asn116=)
c.312T= (p.Asn104=)
c.129T= (p.Asn43=)
n.218T=
11g.17553139G>ACA379810521OTOGc.349G>A (p.Gly117Arg)
c.313G>A (p.Gly105Arg)
c.130G>A (p.Gly44Arg)
n.219G>A
11g.17553139G>CCA379810523OTOGc.349G>C (p.Gly117Arg)
c.313G>C (p.Gly105Arg)
c.130G>C (p.Gly44Arg)
n.219G>C
11g.17553139G>TCA379810531OTOGc.349G>T (p.Gly117Ter)
c.313G>T (p.Gly105Ter)
c.130G>T (p.Gly44Ter)
n.219G>T
11g.17553140G>ACA379810536OTOGc.350G>A (p.Gly117Glu)
c.314G>A (p.Gly105Glu)
c.131G>A (p.Gly44Glu)
n.220G>A
11g.17553140G>CCA379810538OTOGc.350G>C (p.Gly117Ala)
c.314G>C (p.Gly105Ala)
c.131G>C (p.Gly44Ala)
n.220G>C
11g.17553140G=CA1955197602OTOGc.350G= (p.Gly117=)
c.314G= (p.Gly105=)
c.131G= (p.Gly44=)
n.220G=
11g.17553140G>TCA218489764OTOGc.350G>T (p.Gly117Val)
c.314G>T (p.Gly105Val)
c.131G>T (p.Gly44Val)
n.220G>T
 dbSNP
11g.17553141A>CCA473516685OTOGc.351A>C (p.Gly117=)
c.315A>C (p.Gly105=)
c.132A>C (p.Gly44=)
n.221A>C
11g.17553141A>GCA473516686OTOGc.351A>G (p.Gly117=)
c.315A>G (p.Gly105=)
c.132A>G (p.Gly44=)
n.221A>G
11g.17553141A>TCA473516687OTOGc.351A>T (p.Gly117=)
c.315A>T (p.Gly105=)
c.132A>T (p.Gly44=)
n.221A>T
11g.17553142G>ACA379810543OTOGc.352G>A (p.Gly118Ser)
c.316G>A (p.Gly106Ser)
c.133G>A (p.Gly45Ser)
n.222G>A
 dbSNP gnomAD v2 gnomAD v4
11g.17553142G>CCA379810546OTOGc.352G>C (p.Gly118Arg)
c.316G>C (p.Gly106Arg)
c.133G>C (p.Gly45Arg)
n.222G>C
11g.17553142G=CA1955197603OTOGc.352G= (p.Gly118=)
c.316G= (p.Gly106=)
c.133G= (p.Gly45=)
n.222G=
11g.17553142G>TCA379810548OTOGc.352G>T (p.Gly118Cys)
c.316G>T (p.Gly106Cys)
c.133G>T (p.Gly45Cys)
n.222G>T
 gnomAD v4
11g.17553143G>ACA218489772OTOGc.353G>A (p.Gly118Asp)
c.317G>A (p.Gly106Asp)
c.134G>A (p.Gly45Asp)
n.223G>A
 dbSNP gnomAD v3 gnomAD v4
11g.17553143G>CCA379810552OTOGc.353G>C (p.Gly118Ala)
c.317G>C (p.Gly106Ala)
c.134G>C (p.Gly45Ala)
n.223G>C
 gnomAD v4
11g.17553143G=CA1955197604OTOGc.353G= (p.Gly118=)
c.317G= (p.Gly106=)
c.134G= (p.Gly45=)
n.223G=
11g.17553143G>TCA379810553OTOGc.353G>T (p.Gly118Val)
c.317G>T (p.Gly106Val)
c.134G>T (p.Gly45Val)
n.223G>T
 gnomAD v4
11g.17553144C>ACA473516689OTOGc.354C>A (p.Gly118=)
c.318C>A (p.Gly106=)
c.135C>A (p.Gly45=)
n.224C>A
11g.17553144C=CA1955197605OTOGc.354C= (p.Gly118=)
c.318C= (p.Gly106=)
c.135C= (p.Gly45=)
n.224C=
11g.17553144C>GCA473516690OTOGc.354C>G (p.Gly118=)
c.318C>G (p.Gly106=)
c.135C>G (p.Gly45=)
n.224C>G
 dbSNP gnomAD v3 gnomAD v4
11g.17553144C>TCA473516691OTOGc.354C>T (p.Gly118=)
c.318C>T (p.Gly106=)
c.135C>T (p.Gly45=)
n.224C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553145G>ACA218489773OTOGc.355G>A (p.Glu119Lys)
c.319G>A (p.Glu107Lys)
c.136G>A (p.Glu46Lys)
n.225G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553145G>CCA379810556OTOGc.355G>C (p.Glu119Gln)
c.319G>C (p.Glu107Gln)
c.136G>C (p.Glu46Gln)
n.225G>C
11g.17553145G=CA1955197606OTOGc.355G= (p.Glu119=)
c.319G= (p.Glu107=)
c.136G= (p.Glu46=)
n.225G=
11g.17553145G>TCA379810554OTOGc.355G>T (p.Glu119Ter)
c.319G>T (p.Glu107Ter)
c.136G>T (p.Glu46Ter)
n.225G>T
 COSMIC COSMIC
11g.17553146A>CCA379810560OTOGc.356A>C (p.Glu119Ala)
c.320A>C (p.Glu107Ala)
c.137A>C (p.Glu46Ala)
n.226A>C
11g.17553146A>GCA379810562OTOGc.356A>G (p.Glu119Gly)
c.320A>G (p.Glu107Gly)
c.137A>G (p.Glu46Gly)
n.226A>G
11g.17553146A>TCA379810564OTOGc.356A>T (p.Glu119Val)
c.320A>T (p.Glu107Val)
c.137A>T (p.Glu46Val)
n.226A>T
11g.17553147G>ACA218489774OTOGc.357G>A (p.Glu119=)
c.321G>A (p.Glu107=)
c.138G>A (p.Glu46=)
n.227G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553147G>CCA379810568OTOGc.357G>C (p.Glu119Asp)
c.321G>C (p.Glu107Asp)
c.138G>C (p.Glu46Asp)
n.227G>C
11g.17553147G=CA1955197607OTOGc.357G= (p.Glu119=)
c.321G= (p.Glu107=)
c.138G= (p.Glu46=)
n.227G=
11g.17553147G>TCA379810569OTOGc.357G>T (p.Glu119Asp)
c.321G>T (p.Glu107Asp)
c.138G>T (p.Glu46Asp)
n.227G>T
 gnomAD v4 COSMIC COSMIC
11g.17553148T>ACA379810572OTOGc.358T>A (p.Cys120Ser)
c.322T>A (p.Cys108Ser)
c.139T>A (p.Cys47Ser)
n.228T>A
11g.17553148T>CCA379810573OTOGc.358T>C (p.Cys120Arg)
c.322T>C (p.Cys108Arg)
c.139T>C (p.Cys47Arg)
n.228T>C
 gnomAD v4
11g.17553148T>GCA379810575OTOGc.358T>G (p.Cys120Gly)
c.322T>G (p.Cys108Gly)
c.139T>G (p.Cys47Gly)
n.228T>G
11g.17553149G>ACA379810579OTOGc.359G>A (p.Cys120Tyr)
c.323G>A (p.Cys108Tyr)
c.140G>A (p.Cys47Tyr)
n.229G>A
11g.17553149G>CCA379810582OTOGc.359G>C (p.Cys120Ser)
c.323G>C (p.Cys108Ser)
c.140G>C (p.Cys47Ser)
n.229G>C
11g.17553149G>TCA379810585OTOGc.359G>T (p.Cys120Phe)
c.323G>T (p.Cys108Phe)
c.140G>T (p.Cys47Phe)
n.229G>T
11g.17553150T>ACA379810589OTOGc.360T>A (p.Cys120Ter)
c.324T>A (p.Cys108Ter)
c.141T>A (p.Cys47Ter)
n.230T>A
11g.17553150T>CCA473516692OTOGc.360T>C (p.Cys120=)
c.324T>C (p.Cys108=)
c.141T>C (p.Cys47=)
n.230T>C
11g.17553150T>GCA379810590OTOGc.360T>G (p.Cys120Trp)
c.324T>G (p.Cys108Trp)
c.141T>G (p.Cys47Trp)
n.230T>G
11g.17553151G>ACA379810596OTOGc.361G>A (p.Val121Met)
c.325G>A (p.Val109Met)
c.142G>A (p.Val48Met)
n.231G>A
11g.17553151G>CCA379810602OTOGc.361G>C (p.Val121Leu)
c.325G>C (p.Val109Leu)
c.142G>C (p.Val48Leu)
n.231G>C
11g.17553151G>TCA379810593OTOGc.361G>T (p.Val121Leu)
c.325G>T (p.Val109Leu)
c.142G>T (p.Val48Leu)
n.231G>T
11g.17553152T>ACA379810606OTOGc.362T>A (p.Val121Glu)
c.326T>A (p.Val109Glu)
c.143T>A (p.Val48Glu)
n.232T>A
11g.17553152T>CCA379810608OTOGc.362T>C (p.Val121Ala)
c.326T>C (p.Val109Ala)
c.143T>C (p.Val48Ala)
n.232T>C
11g.17553152T>GCA379810610OTOGc.362T>G (p.Val121Gly)
c.326T>G (p.Val109Gly)
c.143T>G (p.Val48Gly)
n.232T>G
11g.17553153G>ACA218489775OTOGc.363G>A (p.Val121=)
c.327G>A (p.Val109=)
c.144G>A (p.Val48=)
n.233G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553153G>CCA473516693OTOGc.363G>C (p.Val121=)
c.327G>C (p.Val109=)
c.144G>C (p.Val48=)
n.233G>C
11g.17553153G=CA1955197608OTOGc.363G= (p.Val121=)
c.327G= (p.Val109=)
c.144G= (p.Val48=)
n.233G=
11g.17553153G>TCA473516694OTOGc.363G>T (p.Val121=)
c.327G>T (p.Val109=)
c.144G>T (p.Val48=)
n.233G>T
11g.17553154C>ACA379810614OTOGc.364C>A (p.His122Asn)
c.328C>A (p.His110Asn)
c.145C>A (p.His49Asn)
n.234C>A
11g.17553154C=CA1955197609OTOGc.364C= (p.His122=)
c.328C= (p.His110=)
c.145C= (p.His49=)
n.234C=
11g.17553154C>GCA379810616OTOGc.364C>G (p.His122Asp)
c.328C>G (p.His110Asp)
c.145C>G (p.His49Asp)
n.234C>G
11g.17553154C>TCA379810619OTOGc.364C>T (p.His122Tyr)
c.328C>T (p.His110Tyr)
c.145C>T (p.His49Tyr)
n.234C>T
 dbSNP gnomAD v2 gnomAD v4
11g.17553155A=CA1955197610OTOGc.365A= (p.His122=)
c.329A= (p.His110=)
c.146A= (p.His49=)
n.235A=
11g.17553155A>CCA379810621OTOGc.365A>C (p.His122Pro)
c.329A>C (p.His110Pro)
c.146A>C (p.His49Pro)
n.235A>C
11g.17553155A>GCA5905338OTOGc.365A>G (p.His122Arg)
c.329A>G (p.His110Arg)
c.146A>G (p.His49Arg)
n.235A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17553155A>TCA379810625OTOGc.365A>T (p.His122Leu)
c.329A>T (p.His110Leu)
c.146A>T (p.His49Leu)
n.235A>T
11g.17553156C>ACA379810628OTOGc.366C>A (p.His122Gln)
c.330C>A (p.His110Gln)
c.147C>A (p.His49Gln)
n.236C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17553156C=CA1955197611OTOGc.366C= (p.His122=)
c.330C= (p.His110=)
c.147C= (p.His49=)
n.236C=
11g.17553156C>GCA379810630OTOGc.366C>G (p.His122Gln)
c.330C>G (p.His110Gln)
c.147C>G (p.His49Gln)
n.236C>G
11g.17553156C>TCA473516695OTOGc.366C>T (p.His122=)
c.330C>T (p.His110=)
c.147C>T (p.His49=)
n.236C>T
11g.17553157C>ACA379810640OTOGc.367C>A (p.Pro123Thr)
c.331C>A (p.Pro111Thr)
c.148C>A (p.Pro50Thr)
n.237C>A
11g.17553157C=CA1955197612OTOGc.367C= (p.Pro123=)
c.331C= (p.Pro111=)
c.148C= (p.Pro50=)
n.237C=
11g.17553157C>GCA379810638OTOGc.367C>G (p.Pro123Ala)
c.331C>G (p.Pro111Ala)
c.148C>G (p.Pro50Ala)
n.237C>G
11g.17553157C>TCA218489789OTOGc.367C>T (p.Pro123Ser)
c.331C>T (p.Pro111Ser)
c.148C>T (p.Pro50Ser)
n.237C>T
 dbSNP gnomAD v3 gnomAD v4
11g.17553158C>ACA379810643OTOGc.368C>A (p.Pro123Gln)
c.332C>A (p.Pro111Gln)
c.149C>A (p.Pro50Gln)
n.238C>A
11g.17553158C>GCA379810647OTOGc.368C>G (p.Pro123Arg)
c.332C>G (p.Pro111Arg)
c.149C>G (p.Pro50Arg)
n.238C>G
11g.17553158C>TCA379810654OTOGc.368C>T (p.Pro123Leu)
c.332C>T (p.Pro111Leu)
c.149C>T (p.Pro50Leu)
n.238C>T
 gnomAD v4
11g.17553159A>CCA473516696OTOGc.369A>C (p.Pro123=)
c.333A>C (p.Pro111=)
c.150A>C (p.Pro50=)
n.239A>C
11g.17553159A>GCA473516697OTOGc.369A>G (p.Pro123=)
c.333A>G (p.Pro111=)
c.150A>G (p.Pro50=)
n.239A>G
11g.17553159A>TCA473516698OTOGc.369A>T (p.Pro123=)
c.333A>T (p.Pro111=)
c.150A>T (p.Pro50=)
n.239A>T
11g.17553160G>ACA379810655OTOGc.370G>A (p.Ala124Thr)
c.334G>A (p.Ala112Thr)
c.151G>A (p.Ala51Thr)
n.240G>A
11g.17553160G>CCA379810656OTOGc.370G>C (p.Ala124Pro)
c.334G>C (p.Ala112Pro)
c.151G>C (p.Ala51Pro)
n.240G>C
 gnomAD v4
11g.17553160G=CA1955197613OTOGc.370G= (p.Ala124=)
c.334G= (p.Ala112=)
c.151G= (p.Ala51=)
n.240G=
11g.17553160G>TCA379810658OTOGc.370G>T (p.Ala124Ser)
c.334G>T (p.Ala112Ser)
c.151G>T (p.Ala51Ser)
n.240G>T
 dbSNP gnomAD v2 gnomAD v4
11g.17553161C>ACA379810662OTOGc.371C>A (p.Ala124Asp)
c.335C>A (p.Ala112Asp)
c.152C>A (p.Ala51Asp)
n.241C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553161C=CA1955197614OTOGc.371C= (p.Ala124=)
c.335C= (p.Ala112=)
c.152C= (p.Ala51=)
n.241C=
11g.17553161C>GCA10576852OTOGc.371C>G (p.Ala124Gly)
c.335C>G (p.Ala112Gly)
c.152C>G (p.Ala51Gly)
n.241C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553161C>TCA218489804OTOGc.371C>T (p.Ala124Val)
c.335C>T (p.Ala112Val)
c.152C>T (p.Ala51Val)
n.241C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553162C>ACA473516699OTOGc.372C>A (p.Ala124=)
c.336C>A (p.Ala112=)
c.153C>A (p.Ala51=)
n.242C>A
11g.17553162C=CA1955197615OTOGc.372C= (p.Ala124=)
c.336C= (p.Ala112=)
c.153C= (p.Ala51=)
n.242C=
11g.17553162C>GCA218489810OTOGc.372C>G (p.Ala124=)
c.336C>G (p.Ala112=)
c.153C>G (p.Ala51=)
n.242C>G
 dbSNP gnomAD v4
11g.17553162C>TCA473516700OTOGc.372C>T (p.Ala124=)
c.336C>T (p.Ala112=)
c.153C>T (p.Ala51=)
n.242C>T
 gnomAD v4
11g.17553163T>ACA379810671OTOGc.373T>A (p.Phe125Ile)
c.337T>A (p.Phe113Ile)
c.154T>A (p.Phe52Ile)
n.243T>A
11g.17553163T>CCA379810683OTOGc.373T>C (p.Phe125Leu)
c.337T>C (p.Phe113Leu)
c.154T>C (p.Phe52Leu)
n.243T>C
11g.17553163T>GCA379810691OTOGc.373T>G (p.Phe125Val)
c.337T>G (p.Phe113Val)
c.154T>G (p.Phe52Val)
n.243T>G
11g.17553164T>ACA379810698OTOGc.374T>A (p.Phe125Tyr)
c.338T>A (p.Phe113Tyr)
c.155T>A (p.Phe52Tyr)
n.244T>A
11g.17553164T>CCA379810702OTOGc.374T>C (p.Phe125Ser)
c.338T>C (p.Phe113Ser)
c.155T>C (p.Phe52Ser)
n.244T>C
11g.17553164T>GCA218489821OTOGc.374T>G (p.Phe125Cys)
c.338T>G (p.Phe113Cys)
c.155T>G (p.Phe52Cys)
n.244T>G
 dbSNP gnomAD v3 gnomAD v4
11g.17553164T=CA1955197616OTOGc.374T= (p.Phe125=)
c.338T= (p.Phe113=)
c.155T= (p.Phe52=)
n.244T=
11g.17553165C>ACA379810707OTOGc.375C>A (p.Phe125Leu)
c.339C>A (p.Phe113Leu)
c.156C>A (p.Phe52Leu)
n.245C>A
11g.17553165C>GCA379810705OTOGc.375C>G (p.Phe125Leu)
c.339C>G (p.Phe113Leu)
c.156C>G (p.Phe52Leu)
n.245C>G
11g.17553165C>TCA473516701OTOGc.375C>T (p.Phe125=)
c.339C>T (p.Phe113=)
c.156C>T (p.Phe52=)
n.245C>T
 gnomAD v4
11g.17553166T>ACA379810712OTOGc.376T>A (p.Cys126Ser)
c.340T>A (p.Cys114Ser)
c.157T>A (p.Cys53Ser)
n.246T>A
11g.17553166T>CCA379810714OTOGc.376T>C (p.Cys126Arg)
c.340T>C (p.Cys114Arg)
c.157T>C (p.Cys53Arg)
n.246T>C
 gnomAD v4
11g.17553166T>GCA379810718OTOGc.376T>G (p.Cys126Gly)
c.340T>G (p.Cys114Gly)
c.157T>G (p.Cys53Gly)
n.246T>G
 dbSNP gnomAD v4
11g.17553166T=CA1955197617OTOGc.376T= (p.Cys126=)
c.340T= (p.Cys114=)
c.157T= (p.Cys53=)
n.246T=
11g.17553167G>ACA379810720OTOGc.377G>A (p.Cys126Tyr)
c.341G>A (p.Cys114Tyr)
c.158G>A (p.Cys53Tyr)
n.247G>A
11g.17553167G>CCA379810723OTOGc.377G>C (p.Cys126Ser)
c.341G>C (p.Cys114Ser)
c.158G>C (p.Cys53Ser)
n.247G>C
11g.17553167G>TCA379810724OTOGc.377G>T (p.Cys126Phe)
c.341G>T (p.Cys114Phe)
c.158G>T (p.Cys53Phe)
n.247G>T
11g.17553168T>ACA379810725OTOGc.378T>A (p.Cys126Ter)
c.342T>A (p.Cys114Ter)
c.159T>A (p.Cys53Ter)
n.248T>A
11g.17553168T>CCA473516702OTOGc.378T>C (p.Cys126=)
c.342T>C (p.Cys114=)
c.159T>C (p.Cys53=)
n.248T>C
11g.17553168T>GCA379810726OTOGc.378T>G (p.Cys126Trp)
c.342T>G (p.Cys114Trp)
c.159T>G (p.Cys53Trp)
n.248T>G
11g.17553169G>ACA379810728OTOGc.379G>A (p.Asp127Asn)
c.343G>A (p.Asp115Asn)
c.160G>A (p.Asp54Asn)
n.249G>A
11g.17553169G>CCA379810730OTOGc.379G>C (p.Asp127His)
c.343G>C (p.Asp115His)
c.160G>C (p.Asp54His)
n.249G>C
11g.17553169G>TCA379810733OTOGc.379G>T (p.Asp127Tyr)
c.343G>T (p.Asp115Tyr)
c.160G>T (p.Asp54Tyr)
n.249G>T
11g.17553170A>CCA379810740OTOGc.380A>C (p.Asp127Ala)
c.344A>C (p.Asp115Ala)
c.161A>C (p.Asp54Ala)
n.250A>C
 gnomAD v4
11g.17553170A>GCA379810735OTOGc.380A>G (p.Asp127Gly)
c.344A>G (p.Asp115Gly)
c.161A>G (p.Asp54Gly)
n.250A>G
11g.17553170A>TCA379810737OTOGc.380A>T (p.Asp127Val)
c.344A>T (p.Asp115Val)
c.161A>T (p.Asp54Val)
n.250A>T
11g.17553171C>ACA379810743OTOGc.381C>A (p.Asp127Glu)
c.345C>A (p.Asp115Glu)
c.162C>A (p.Asp54Glu)
n.251C>A
11g.17553171C>GCA379810745OTOGc.381C>G (p.Asp127Glu)
c.345C>G (p.Asp115Glu)
c.162C>G (p.Asp54Glu)
n.251C>G
11g.17553171C>TCA473516703OTOGc.381C>T (p.Asp127=)
c.345C>T (p.Asp115=)
c.162C>T (p.Asp54=)
n.251C>T
11g.17553172T>ACA379810749OTOGc.382T>A (p.Cys128Ser)
c.346T>A (p.Cys116Ser)
c.163T>A (p.Cys55Ser)
n.252T>A
11g.17553172T>CCA379810751OTOGc.382T>C (p.Cys128Arg)
c.346T>C (p.Cys116Arg)
c.163T>C (p.Cys55Arg)
n.252T>C
11g.17553172T>GCA379810756OTOGc.382T>G (p.Cys128Gly)
c.346T>G (p.Cys116Gly)
c.163T>G (p.Cys55Gly)
n.252T>G
 gnomAD v4
11g.17553173G>ACA379810759OTOGc.383G>A (p.Cys128Tyr)
c.347G>A (p.Cys116Tyr)
c.164G>A (p.Cys55Tyr)
n.253G>A
11g.17553173G>CCA379810761OTOGc.383G>C (p.Cys128Ser)
c.347G>C (p.Cys116Ser)
c.164G>C (p.Cys55Ser)
n.253G>C
11g.17553173G>TCA379810764OTOGc.383G>T (p.Cys128Phe)
c.347G>T (p.Cys116Phe)
c.164G>T (p.Cys55Phe)
n.253G>T
11g.17553174C>ACA379810768OTOGc.384C>A (p.Cys128Ter)
c.348C>A (p.Cys116Ter)
c.165C>A (p.Cys55Ter)
n.254C>A
 dbSNP gnomAD v2 gnomAD v4
11g.17553174C=CA1955197618OTOGc.384C= (p.Cys128=)
c.348C= (p.Cys116=)
c.165C= (p.Cys55=)
n.254C=
11g.17553174C>GCA379810771OTOGc.384C>G (p.Cys128Trp)
c.348C>G (p.Cys116Trp)
c.165C>G (p.Cys55Trp)
n.254C>G
11g.17553174C>TCA473516704OTOGc.384C>T (p.Cys128=)
c.348C>T (p.Cys116=)
c.165C>T (p.Cys55=)
n.254C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553175A>CCA473516705OTOGc.385A>C (p.Arg129=)
c.349A>C (p.Arg117=)
c.166A>C (p.Arg56=)
n.255A>C
11g.17553175A>GCA379810775OTOGc.385A>G (p.Arg129Gly)
c.349A>G (p.Arg117Gly)
c.166A>G (p.Arg56Gly)
n.255A>G
11g.17553175A>TCA379810778OTOGc.385A>T (p.Arg129Ter)
c.349A>T (p.Arg117Ter)
c.166A>T (p.Arg56Ter)
n.255A>T
11g.17553176G>ACA379810785OTOGc.386G>A (p.Arg129Lys)
c.350G>A (p.Arg117Lys)
c.167G>A (p.Arg56Lys)
n.256G>A
11g.17553176G>CCA379810786OTOGc.386G>C (p.Arg129Thr)
c.350G>C (p.Arg117Thr)
c.167G>C (p.Arg56Thr)
n.256G>C
11g.17553176G>TCA379810782OTOGc.386G>T (p.Arg129Ile)
c.350G>T (p.Arg117Ile)
c.167G>T (p.Arg56Ile)
n.256G>T
11g.17553177A>CCA379810787OTOGc.387A>C (p.Arg129Ser)
c.351A>C (p.Arg117Ser)
c.168A>C (p.Arg56Ser)
n.257A>C
11g.17553177A>GCA473516706OTOGc.387A>G (p.Arg129=)
c.351A>G (p.Arg117=)
c.168A>G (p.Arg56=)
n.257A>G
11g.17553177A>TCA379810788OTOGc.387A>T (p.Arg129Ser)
c.351A>T (p.Arg117Ser)
c.168A>T (p.Arg56Ser)
n.257A>T
11g.17553178C>ACA379810790OTOGc.388C>A (p.Arg130Ser)
c.352C>A (p.Arg118Ser)
c.169C>A (p.Arg57Ser)
n.258C>A
 gnomAD v4
11g.17553178C=CA1955197619OTOGc.388C= (p.Arg130=)
c.352C= (p.Arg118=)
c.169C= (p.Arg57=)
n.258C=
11g.17553178C>GCA379810791OTOGc.388C>G (p.Arg130Gly)
c.352C>G (p.Arg118Gly)
c.169C>G (p.Arg57Gly)
n.258C>G
 dbSNP gnomAD v2 gnomAD v4
11g.17553178C>TCA5905339OTOGc.388C>T (p.Arg130Cys)
c.352C>T (p.Arg118Cys)
c.169C>T (p.Arg57Cys)
n.258C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553179G>ACA218489825OTOGc.389G>A (p.Arg130His)
c.353G>A (p.Arg118His)
c.170G>A (p.Arg57His)
n.259G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553179G>CCA379810801OTOGc.389G>C (p.Arg130Pro)
c.353G>C (p.Arg118Pro)
c.170G>C (p.Arg57Pro)
n.259G>C
11g.17553179G=CA1955197620OTOGc.389G= (p.Arg130=)
c.353G= (p.Arg118=)
c.170G= (p.Arg57=)
n.259G=
11g.17553179G>TCA379810804OTOGc.389G>T (p.Arg130Leu)
c.353G>T (p.Arg118Leu)
c.170G>T (p.Arg57Leu)
n.259G>T
 gnomAD v4
11g.17553180C>ACA473516707OTOGc.390C>A (p.Arg130=)
c.354C>A (p.Arg118=)
c.171C>A (p.Arg57=)
n.260C>A
11g.17553180C>GCA473516708OTOGc.390C>G (p.Arg130=)
c.354C>G (p.Arg118=)
c.171C>G (p.Arg57=)
n.260C>G
 gnomAD v4
11g.17553180C>TCA473516709OTOGc.390C>T (p.Arg130=)
c.354C>T (p.Arg118=)
c.171C>T (p.Arg57=)
n.260C>T
 gnomAD v4
11g.17553181T>ACA379810810OTOGc.391T>A (p.Phe131Ile)
c.355T>A (p.Phe119Ile)
c.172T>A (p.Phe58Ile)
n.261T>A
11g.17553181T>CCA379810812OTOGc.391T>C (p.Phe131Leu)
c.355T>C (p.Phe119Leu)
c.172T>C (p.Phe58Leu)
n.261T>C
 dbSNP gnomAD v2 gnomAD v4
11g.17553181T>GCA379810815OTOGc.391T>G (p.Phe131Val)
c.355T>G (p.Phe119Val)
c.172T>G (p.Phe58Val)
n.261T>G
11g.17553181T=CA1955197621OTOGc.391T= (p.Phe131=)
c.355T= (p.Phe119=)
c.172T= (p.Phe58=)
n.261T=
11g.17553182T>ACA379810820OTOGc.392T>A (p.Phe131Tyr)
c.356T>A (p.Phe119Tyr)
c.173T>A (p.Phe58Tyr)
n.262T>A
11g.17553182T>CCA379810821OTOGc.392T>C (p.Phe131Ser)
c.356T>C (p.Phe119Ser)
c.173T>C (p.Phe58Ser)
n.262T>C
 gnomAD v4
11g.17553182T>GCA379810825OTOGc.392T>G (p.Phe131Cys)
c.356T>G (p.Phe119Cys)
c.173T>G (p.Phe58Cys)
n.262T>G
11g.17553183C>ACA379810830OTOGc.393C>A (p.Phe131Leu)
c.357C>A (p.Phe119Leu)
c.174C>A (p.Phe58Leu)
n.263C>A
11g.17553183C>GCA379810831OTOGc.393C>G (p.Phe131Leu)
c.357C>G (p.Phe119Leu)
c.174C>G (p.Phe58Leu)
n.263C>G
11g.17553183C>TCA473516710OTOGc.393C>T (p.Phe131=)
c.357C>T (p.Phe119=)
c.174C>T (p.Phe58=)
n.263C>T
 COSMIC
11g.17553184A=CA1955197622OTOGc.394A= (p.Asn132=)
c.358A= (p.Asn120=)
c.175A= (p.Asn59=)
n.264A=
11g.17553184A>CCA379810847OTOGc.394A>C (p.Asn132His)
c.358A>C (p.Asn120His)
c.175A>C (p.Asn59His)
n.264A>C
11g.17553184A>GCA5905340OTOGc.394A>G (p.Asn132Asp)
c.358A>G (p.Asn120Asp)
c.175A>G (p.Asn59Asp)
n.264A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17553184A>TCA379810853OTOGc.394A>T (p.Asn132Tyr)
c.358A>T (p.Asn120Tyr)
c.175A>T (p.Asn59Tyr)
n.264A>T
11g.17553185A>CCA379810859OTOGc.395A>C (p.Asn132Thr)
c.359A>C (p.Asn120Thr)
c.176A>C (p.Asn59Thr)
n.265A>C
11g.17553185A>GCA379810863OTOGc.395A>G (p.Asn132Ser)
c.359A>G (p.Asn120Ser)
c.176A>G (p.Asn59Ser)
n.265A>G
11g.17553185A>TCA379810866OTOGc.395A>T (p.Asn132Ile)
c.359A>T (p.Asn120Ile)
c.176A>T (p.Asn59Ile)
n.265A>T
11g.17553186T>ACA379810867OTOGc.396T>A (p.Asn132Lys)
c.360T>A (p.Asn120Lys)
c.177T>A (p.Asn59Lys)
n.266T>A
11g.17553186T>CCA473516711OTOGc.396T>C (p.Asn132=)
c.360T>C (p.Asn120=)
c.177T>C (p.Asn59=)
n.266T>C
11g.17553186T>GCA379810875OTOGc.396T>G (p.Asn132Lys)
c.360T>G (p.Asn120Lys)
c.177T>G (p.Asn59Lys)
n.266T>G
11g.17553187G>ACA379810877OTOGc.397G>A (p.Ala133Thr)
c.361G>A (p.Ala121Thr)
c.178G>A (p.Ala60Thr)
n.267G>A
11g.17553187G>CCA379810880OTOGc.397G>C (p.Ala133Pro)
c.361G>C (p.Ala121Pro)
c.178G>C (p.Ala60Pro)
n.267G>C
11g.17553187G>TCA379810882OTOGc.397G>T (p.Ala133Ser)
c.361G>T (p.Ala121Ser)
c.178G>T (p.Ala60Ser)
n.267G>T
11g.17553188C>ACA379810886OTOGc.398C>A (p.Ala133Asp)
c.362C>A (p.Ala121Asp)
c.179C>A (p.Ala60Asp)
n.268C>A
11g.17553188C=CA1955197623OTOGc.398C= (p.Ala133=)
c.362C= (p.Ala121=)
c.179C= (p.Ala60=)
n.268C=
11g.17553188C>GCA379810888OTOGc.398C>G (p.Ala133Gly)
c.362C>G (p.Ala121Gly)
c.179C>G (p.Ala60Gly)
n.268C>G
11g.17553188C>TCA379810892OTOGc.398C>T (p.Ala133Val)
c.362C>T (p.Ala121Val)
c.179C>T (p.Ala60Val)
n.268C>T
 dbSNP gnomAD v2
11g.17553189C>ACA473516712OTOGc.399C>A (p.Ala133=)
c.363C>A (p.Ala121=)
c.180C>A (p.Ala60=)
n.269C>A
11g.17553189C>GCA473516714OTOGc.399C>G (p.Ala133=)
c.363C>G (p.Ala121=)
c.180C>G (p.Ala60=)
n.269C>G
11g.17553189C>TCA473516713OTOGc.399C>T (p.Ala133=)
c.363C>T (p.Ala121=)
c.180C>T (p.Ala60=)
n.269C>T
11g.17553190A=CA1955197624OTOGc.400A= (p.Thr134=)
c.364A= (p.Thr122=)
c.181A= (p.Thr61=)
n.270A=
11g.17553190A>CCA379810911OTOGc.400A>C (p.Thr134Pro)
c.364A>C (p.Thr122Pro)
c.181A>C (p.Thr61Pro)
n.270A>C
11g.17553190A>GCA218489850OTOGc.400A>G (p.Thr134Ala)
c.364A>G (p.Thr122Ala)
c.181A>G (p.Thr61Ala)
n.270A>G
 dbSNP
11g.17553190A>TCA379810907OTOGc.400A>T (p.Thr134Ser)
c.364A>T (p.Thr122Ser)
c.181A>T (p.Thr61Ser)
n.270A>T
11g.17553191C>ACA379810915OTOGc.401C>A (p.Thr134Asn)
c.365C>A (p.Thr122Asn)
c.182C>A (p.Thr61Asn)
n.271C>A
11g.17553191C=CA1955197625OTOGc.401C= (p.Thr134=)
c.365C= (p.Thr122=)
c.182C= (p.Thr61=)
n.271C=
11g.17553191C>GCA379810913OTOGc.401C>G (p.Thr134Ser)
c.365C>G (p.Thr122Ser)
c.182C>G (p.Thr61Ser)
n.271C>G
11g.17553191C>TCA379810918OTOGc.401C>T (p.Thr134Ile)
c.365C>T (p.Thr122Ile)
c.182C>T (p.Thr61Ile)
n.271C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17553192T>ACA473516715OTOGc.402T>A (p.Thr134=)
c.366T>A (p.Thr122=)
c.183T>A (p.Thr61=)
n.272T>A
11g.17553192T>CCA473516716OTOGc.402T>C (p.Thr134=)
c.366T>C (p.Thr122=)
c.183T>C (p.Thr61=)
n.272T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553192T>GCA473516717OTOGc.402T>G (p.Thr134=)
c.366T>G (p.Thr122=)
c.183T>G (p.Thr61=)
n.272T>G
11g.17553192T=CA1955197626OTOGc.402T= (p.Thr134=)
c.366T= (p.Thr122=)
c.183T= (p.Thr61=)
n.272T=
11g.17553193G>ACA379810922OTOGc.403G>A (p.Gly135Arg)
c.367G>A (p.Gly123Arg)
c.184G>A (p.Gly62Arg)
n.273G>A
11g.17553193G>CCA379810924OTOGc.403G>C (p.Gly135Arg)
c.367G>C (p.Gly123Arg)
c.184G>C (p.Gly62Arg)
n.273G>C
11g.17553193G>TCA379810926OTOGc.403G>T (p.Gly135Ter)
c.367G>T (p.Gly123Ter)
c.184G>T (p.Gly62Ter)
n.273G>T
 gnomAD v4
11g.17553194G>ACA5905341OTOGc.404G>A (p.Gly135Glu)
c.368G>A (p.Gly123Glu)
c.185G>A (p.Gly62Glu)
n.274G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553194G>CCA379810932OTOGc.404G>C (p.Gly135Ala)
c.368G>C (p.Gly123Ala)
c.185G>C (p.Gly62Ala)
n.274G>C
11g.17553194G=CA1955197627OTOGc.404G= (p.Gly135=)
c.368G= (p.Gly123=)
c.185G= (p.Gly62=)
n.274G=
11g.17553194G>TCA379810934OTOGc.404G>T (p.Gly135Val)
c.368G>T (p.Gly123Val)
c.185G>T (p.Gly62Val)
n.274G>T
11g.17553195A=CA1955197628OTOGc.405A= (p.Gly135=)
c.369A= (p.Gly123=)
c.186A= (p.Gly62=)
n.275A=
11g.17553195A>CCA473516718OTOGc.405A>C (p.Gly135=)
c.369A>C (p.Gly123=)
c.186A>C (p.Gly62=)
n.275A>C
11g.17553195A>GCA473516719OTOGc.405A>G (p.Gly135=)
c.369A>G (p.Gly123=)
c.186A>G (p.Gly62=)
n.275A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553195A>TCA473516720OTOGc.405A>T (p.Gly135=)
c.369A>T (p.Gly123=)
c.186A>T (p.Gly62=)
n.275A>T
11g.17553196C>ACA379810939OTOGc.406C>A (p.Pro136Thr)
c.370C>A (p.Pro124Thr)
c.187C>A (p.Pro63Thr)
n.276C>A
 dbSNP gnomAD v2
11g.17553196C=CA1955197629OTOGc.406C= (p.Pro136=)
c.370C= (p.Pro124=)
c.187C= (p.Pro63=)
n.276C=
11g.17553196C>GCA379810942OTOGc.406C>G (p.Pro136Ala)
c.370C>G (p.Pro124Ala)
c.187C>G (p.Pro63Ala)
n.276C>G
11g.17553196C>TCA379810944OTOGc.406C>T (p.Pro136Ser)
c.370C>T (p.Pro124Ser)
c.187C>T (p.Pro63Ser)
n.276C>T
 gnomAD v4
11g.17553197delCA2612679357OTOGc.407del (p.Pro136ArgfsTer?)
c.371del (p.Pro124ArgfsTer?)
c.188del (p.Pro63ArgfsTer?)
n.277del
 gnomAD v4
11g.17553197C>ACA379810945OTOGc.407C>A (p.Pro136Gln)
c.371C>A (p.Pro124Gln)
c.188C>A (p.Pro63Gln)
n.277C>A
11g.17553197C=CA1955197630OTOGc.407C= (p.Pro136=)
c.371C= (p.Pro124=)
c.188C= (p.Pro63=)
n.277C=
11g.17553197C>GCA379810947OTOGc.407C>G (p.Pro136Arg)
c.371C>G (p.Pro124Arg)
c.188C>G (p.Pro63Arg)
n.277C>G
11g.17553197C>TCA5905342OTOGc.407C>T (p.Pro136Leu)
c.371C>T (p.Pro124Leu)
c.188C>T (p.Pro63Leu)
n.277C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553198G>ACA5905343OTOGc.408G>A (p.Pro136=)
c.372G>A (p.Pro124=)
c.189G>A (p.Pro63=)
n.278G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553198G>CCA473516722OTOGc.408G>C (p.Pro136=)
c.372G>C (p.Pro124=)
c.189G>C (p.Pro63=)
n.278G>C
11g.17553198G=CA1955197631OTOGc.408G= (p.Pro136=)
c.372G= (p.Pro124=)
c.189G= (p.Pro63=)
n.278G=
11g.17553198G>TCA473516721OTOGc.408G>T (p.Pro136=)
c.372G>T (p.Pro124=)
c.189G>T (p.Pro63=)
n.278G>T
 dbSNP gnomAD v2 gnomAD v4
11g.17553199C>ACA379810954OTOGc.409C>A (p.Arg137Ser)
c.373C>A (p.Arg125Ser)
c.190C>A (p.Arg64Ser)
n.279C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553199C=CA1955197632OTOGc.409C= (p.Arg137=)
c.373C= (p.Arg125=)
c.190C= (p.Arg64=)
n.279C=
11g.17553199C>GCA379810951OTOGc.409C>G (p.Arg137Gly)
c.373C>G (p.Arg125Gly)
c.190C>G (p.Arg64Gly)
n.279C>G
11g.17553199C>TCA218489864OTOGc.409C>T (p.Arg137Cys)
c.373C>T (p.Arg125Cys)
c.190C>T (p.Arg64Cys)
n.279C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17553200G>ACA379810956OTOGc.410G>A (p.Arg137His)
c.374G>A (p.Arg125His)
c.191G>A (p.Arg64His)
n.280G>A
 dbSNP gnomAD v2 gnomAD v4
11g.17553200G>CCA379810958OTOGc.410G>C (p.Arg137Pro)
c.374G>C (p.Arg125Pro)
c.191G>C (p.Arg64Pro)
n.280G>C
11g.17553200G=CA1955197633OTOGc.410G= (p.Arg137=)
c.374G= (p.Arg125=)
c.191G= (p.Arg64=)
n.280G=
11g.17553200G>TCA379810960OTOGc.410G>T (p.Arg137Leu)
c.374G>T (p.Arg125Leu)
c.191G>T (p.Arg64Leu)
n.280G>T
 dbSNP gnomAD v3 gnomAD v4
11g.17553200dupCA2612679363OTOGc.410dup (p.Cys138LeufsTer10)
c.374dup (p.Cys126LeufsTer10)
c.191dup (p.Cys65LeufsTer10)
n.280dup
 gnomAD v4
11g.17553201C>ACA473516723OTOGc.411C>A (p.Arg137=)
c.375C>A (p.Arg125=)
c.192C>A (p.Arg64=)
n.281C>A
11g.17553201C>GCA473516724OTOGc.411C>G (p.Arg137=)
c.375C>G (p.Arg125=)
c.192C>G (p.Arg64=)
n.281C>G
11g.17553201C>TCA473516725OTOGc.411C>T (p.Arg137=)
c.375C>T (p.Arg125=)
c.192C>T (p.Arg64=)
n.281C>T
11g.17553202T>ACA379810962OTOGc.412T>A (p.Cys138Ser)
c.376T>A (p.Cys126Ser)
c.193T>A (p.Cys65Ser)
n.282T>A
11g.17553202T>CCA379810964OTOGc.412T>C (p.Cys138Arg)
c.376T>C (p.Cys126Arg)
c.193T>C (p.Cys65Arg)
n.282T>C
11g.17553202T>GCA379810966OTOGc.412T>G (p.Cys138Gly)
c.376T>G (p.Cys126Gly)
c.193T>G (p.Cys65Gly)
n.282T>G
11g.17553203G>ACA379810968OTOGc.413G>A (p.Cys138Tyr)
c.377G>A (p.Cys126Tyr)
c.194G>A (p.Cys65Tyr)
n.283G>A
 gnomAD v4
11g.17553203G>CCA379810970OTOGc.413G>C (p.Cys138Ser)
c.377G>C (p.Cys126Ser)
c.194G>C (p.Cys65Ser)
n.283G>C
11g.17553203G>TCA379810972OTOGc.413G>T (p.Cys138Phe)
c.377G>T (p.Cys126Phe)
c.194G>T (p.Cys65Phe)
n.283G>T
 gnomAD v4
11g.17553204C>ACA379810973OTOGc.414C>A (p.Cys138Ter)
c.378C>A (p.Cys126Ter)
c.195C>A (p.Cys65Ter)
n.284C>A
 gnomAD v4
11g.17553204C=CA1955197634OTOGc.414C= (p.Cys138=)
c.378C= (p.Cys126=)
c.195C= (p.Cys65=)
n.284C=
11g.17553204C>GCA379810974OTOGc.414C>G (p.Cys138Trp)
c.378C>G (p.Cys126Trp)
c.195C>G (p.Cys65Trp)
n.284C>G
11g.17553204C>TCA473516726OTOGc.414C>T (p.Cys138=)
c.378C>T (p.Cys126=)
c.195C>T (p.Cys65=)
n.284C>T
 dbSNP gnomAD v3 gnomAD v4
11g.17553205C>ACA379810977OTOGc.415C>A (p.Gln139Lys)
c.379C>A (p.Gln127Lys)
c.196C>A (p.Gln66Lys)
n.285C>A
11g.17553205C=CA1955197635OTOGc.415C= (p.Gln139=)
c.379C= (p.Gln127=)
c.196C= (p.Gln66=)
n.285C=
11g.17553205C>GCA379810976OTOGc.415C>G (p.Gln139Glu)
c.379C>G (p.Gln127Glu)
c.196C>G (p.Gln66Glu)
n.285C>G
11g.17553205C>TCA379810975OTOGc.415C>T (p.Gln139Ter)
c.379C>T (p.Gln127Ter)
c.196C>T (p.Gln66Ter)
n.285C>T
 ClinVar dbSNP gnomAD v4
11g.17553206A>CCA379810978OTOGc.416A>C (p.Gln139Pro)
c.380A>C (p.Gln127Pro)
c.197A>C (p.Gln66Pro)
n.286A>C
11g.17553206A>GCA379810979OTOGc.416A>G (p.Gln139Arg)
c.380A>G (p.Gln127Arg)
c.197A>G (p.Gln66Arg)
n.286A>G
11g.17553206A>TCA379810980OTOGc.416A>T (p.Gln139Leu)
c.380A>T (p.Gln127Leu)
c.197A>T (p.Gln66Leu)
n.286A>T
11g.17553207G>ACA473516727OTOGc.417G>A (p.Gln139=)
c.381G>A (p.Gln127=)
c.198G>A (p.Gln66=)
n.287G>A
11g.17553207G>CCA379810981OTOGc.417G>C (p.Gln139His)
c.381G>C (p.Gln127His)
c.198G>C (p.Gln66His)
n.287G>C
 gnomAD v4
11g.17553207G=CA1955197636OTOGc.417G= (p.Gln139=)
c.381G= (p.Gln127=)
c.198G= (p.Gln66=)
n.287G=
11g.17553207G>TCA379810982OTOGc.417G>T (p.Gln139His)
c.381G>T (p.Gln127His)
c.198G>T (p.Gln66His)
n.287G>T
11g.17553207_17553208insTCA1955197637OTOGc.417_418insT (p.Met140TyrfsTer8)
c.381_382insT (p.Met128TyrfsTer8)
c.198_199insT (p.Met67TyrfsTer8)
n.287_288insT
 dbSNP
11g.17553208A=CA1955197638OTOGc.418A= (p.Met140=)
c.382A= (p.Met128=)
c.199A= (p.Met67=)
n.288A=
11g.17553208A>CCA379810985OTOGc.418A>C (p.Met140Leu)
c.382A>C (p.Met128Leu)
c.199A>C (p.Met67Leu)
n.288A>C
11g.17553208A>GCA379810984OTOGc.418A>G (p.Met140Val)
c.382A>G (p.Met128Val)
c.199A>G (p.Met67Val)
n.288A>G
 dbSNP gnomAD v2 gnomAD v4
11g.17553208A>TCA379810983OTOGc.418A>T (p.Met140Leu)
c.382A>T (p.Met128Leu)
c.199A>T (p.Met67Leu)
n.288A>T
11g.17553209T>ACA379810986OTOGc.419T>A (p.Met140Lys)
c.383T>A (p.Met128Lys)
c.200T>A (p.Met67Lys)
n.289T>A
 gnomAD v4
11g.17553209T>CCA379810987OTOGc.419T>C (p.Met140Thr)
c.383T>C (p.Met128Thr)
c.200T>C (p.Met67Thr)
n.289T>C
11g.17553209T>GCA379810988OTOGc.419T>G (p.Met140Arg)
c.383T>G (p.Met128Arg)
c.200T>G (p.Met67Arg)
n.289T>G
11g.17553210G>ACA379810989OTOGc.420G>A (p.Met140Ile)
c.384G>A (p.Met128Ile)
c.201G>A (p.Met67Ile)
n.290G>A
 dbSNP gnomAD v2 gnomAD v4
11g.17553210G>CCA379810990OTOGc.420G>C (p.Met140Ile)
c.384G>C (p.Met128Ile)
c.201G>C (p.Met67Ile)
n.290G>C
11g.17553210G=CA1955197639OTOGc.420G= (p.Met140=)
c.384G= (p.Met128=)
c.201G= (p.Met67=)
n.290G=
11g.17553210G>TCA379810991OTOGc.420G>T (p.Met140Ile)
c.384G>T (p.Met128Ile)
c.201G>T (p.Met67Ile)
n.290G>T
 gnomAD v4
11g.17553211G>ACA5905344OTOGc.421G>A (p.Val141Met)
c.385G>A (p.Val129Met)
c.202G>A (p.Val68Met)
n.291G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553211G>CCA379810993OTOGc.421G>C (p.Val141Leu)
c.385G>C (p.Val129Leu)
c.202G>C (p.Val68Leu)
n.291G>C
11g.17553211G=CA1955197640OTOGc.421G= (p.Val141=)
c.385G= (p.Val129=)
c.202G= (p.Val68=)
n.291G=
11g.17553211G>TCA379810992OTOGc.421G>T (p.Val141Leu)
c.385G>T (p.Val129Leu)
c.202G>T (p.Val68Leu)
n.291G>T
11g.17553212G>ACA379810994OTOGc.421+1G>A (n.421+1G>A)
c.385+1G>A (n.385+1G>A)
c.202+1G>A (n.202+1G>A)
n.291+1G>A
 dbSNP gnomAD v3 gnomAD v4
11g.17553212G>CCA379810995OTOGc.421+1G>C (n.421+1G>C)
c.385+1G>C (n.385+1G>C)
c.202+1G>C (n.202+1G>C)
n.291+1G>C
11g.17553212G=CA1955197641OTOGc.421+1G= (n.421+1G=)
c.385+1G= (n.385+1G=)
c.202+1G= (n.202+1G=)
n.291+1G=
11g.17553212G>TCA379810996OTOGc.421+1G>T (n.421+1G>T)
c.385+1G>T (n.385+1G>T)
c.202+1G>T (n.202+1G>T)
n.291+1G>T
 dbSNP gnomAD v3 gnomAD v4
11g.17553213T>ACA379810997OTOGc.421+2T>A (n.421+2T>A)
c.385+2T>A (n.385+2T>A)
c.202+2T>A (n.202+2T>A)
n.291+2T>A
 gnomAD v4
11g.17553213T>CCA379810998OTOGc.421+2T>C (n.421+2T>C)
c.385+2T>C (n.385+2T>C)
c.202+2T>C (n.202+2T>C)
n.291+2T>C
11g.17553213T>GCA379810999OTOGc.421+2T>G (n.421+2T>G)
c.385+2T>G (n.385+2T>G)
c.202+2T>G (n.202+2T>G)
n.291+2T>G
11g.17553214G>ACA2574770014OTOGc.421+3G>A (n.421+3G>A)
c.385+3G>A (n.385+3G>A)
c.202+3G>A (n.202+3G>A)
n.291+3G>A
11g.17553215G>TCA2723297234OTOGc.421+4G>T (n.421+4G>T)
c.385+4G>T (n.385+4G>T)
c.202+4G>T (n.202+4G>T)
n.291+4G>T
 dbSNP
11g.17553216G>ACA597904748OTOGc.421+5G>A (n.421+5G>A)
c.385+5G>A (n.385+5G>A)
c.202+5G>A (n.202+5G>A)
n.291+5G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553216G=CA1955197642OTOGc.421+5G= (n.421+5G=)
c.385+5G= (n.385+5G=)
c.202+5G= (n.202+5G=)
n.291+5G=
11g.17553216G>TCA1955197643OTOGc.421+5G>T (n.421+5G>T)
c.385+5G>T (n.385+5G>T)
c.202+5G>T (n.202+5G>T)
n.291+5G>T
 dbSNP gnomAD v4
11g.17553217T>GCA1955197645OTOGc.421+6T>G (n.421+6T>G)
c.385+6T>G (n.385+6T>G)
c.202+6T>G (n.202+6T>G)
n.291+6T>G
 dbSNP
11g.17553217T=CA1955197644OTOGc.421+6T= (n.421+6T=)
c.385+6T= (n.385+6T=)
c.202+6T= (n.202+6T=)
n.291+6T=
11g.17553218C=CA1955197646OTOGc.421+7C= (n.421+7C=)
c.385+7C= (n.385+7C=)
c.202+7C= (n.202+7C=)
n.291+7C=
11g.17553218C>GCA2612679366OTOGc.421+7C>G (n.421+7C>G)
c.385+7C>G (n.385+7C>G)
c.202+7C>G (n.202+7C>G)
n.291+7C>G
 gnomAD v4
11g.17553218C>TCA5905345OTOGc.421+7C>T (n.421+7C>T)
c.385+7C>T (n.385+7C>T)
c.202+7C>T (n.202+7C>T)
n.291+7C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553221G=CA1955197647OTOGc.421+10G= (n.421+10G=)
c.385+10G= (n.385+10G=)
c.202+10G= (n.202+10G=)
n.291+10G=
11g.17553221G>TCA5905346OTOGc.421+10G>T (n.421+10G>T)
c.385+10G>T (n.385+10G>T)
c.202+10G>T (n.202+10G>T)
n.291+10G>T
 dbSNP ExAC
11g.17553222G>ACA2612679367OTOGc.421+11G>A (n.421+11G>A)
c.385+11G>A (n.385+11G>A)
c.202+11G>A (n.202+11G>A)
n.291+11G>A
 gnomAD v4
11g.17553222G>CCA2612679368OTOGc.421+11G>C (n.421+11G>C)
c.385+11G>C (n.385+11G>C)
c.202+11G>C (n.202+11G>C)
n.291+11G>C
 gnomAD v4
11g.17553222G>TCA2612679369OTOGc.421+11G>T (n.421+11G>T)
c.385+11G>T (n.385+11G>T)
c.202+11G>T (n.202+11G>T)
n.291+11G>T
 gnomAD v4
11g.17553223C>ACA2612679370OTOGc.421+12C>A (n.421+12C>A)
c.385+12C>A (n.385+12C>A)
c.202+12C>A (n.202+12C>A)
n.291+12C>A
 gnomAD v4
11g.17553223C>TCA2612679371OTOGc.421+12C>T (n.421+12C>T)
c.385+12C>T (n.385+12C>T)
c.202+12C>T (n.202+12C>T)
n.291+12C>T
 gnomAD v4
11g.17553224T>ACA935543239OTOGc.421+13T>A (n.421+13T>A)
c.385+13T>A (n.385+13T>A)
c.202+13T>A (n.202+13T>A)
n.291+13T>A
 dbSNP gnomAD v3 gnomAD v4
11g.17553224T=CA1955197648OTOGc.421+13T= (n.421+13T=)
c.385+13T= (n.385+13T=)
c.202+13T= (n.202+13T=)
n.291+13T=
11g.17553225C>ACA2790596439OTOGc.421+14C>A (n.421+14C>A)
c.385+14C>A (n.385+14C>A)
c.202+14C>A (n.202+14C>A)
n.291+14C>A
11g.17553232_17553236dupCA674246519OTOGc.421+21_421+25dup (n.421+21_421+25dup)
c.385+21_385+25dup (n.385+21_385+25dup)
c.202+21_202+25dup (n.202+21_202+25dup)
n.291+21_291+25dup
 dbSNP gnomAD v3 gnomAD v4
11g.17553226C=CA1955197649OTOGc.421+15C= (n.421+15C=)
c.385+15C= (n.385+15C=)
c.202+15C= (n.202+15C=)
n.291+15C=
11g.17553226C>TCA674246521OTOGc.421+15C>T (n.421+15C>T)
c.385+15C>T (n.385+15C>T)
c.202+15C>T (n.202+15C>T)
n.291+15C>T
 dbSNP gnomAD v3 gnomAD v4
11g.17553227A=CA1955197650OTOGc.421+16A= (n.421+16A=)
c.385+16A= (n.385+16A=)
c.202+16A= (n.202+16A=)
n.291+16A=
11g.17553227A>CCA1955197651OTOGc.421+16A>C (n.421+16A>C)
c.385+16A>C (n.385+16A>C)
c.202+16A>C (n.202+16A>C)
n.291+16A>C
 dbSNP
11g.17553227_17553228delinsACCA1955197652OTOGc.421+16_421+17delinsAC (n.421+16_421+17delinsAC)
c.385+16_385+17delinsAC (n.385+16_385+17delinsAC)
c.202+16_202+17delinsAC (n.202+16_202+17delinsAC)
n.291+16_291+17delinsAC
11g.17553228C>ACA218489869OTOGc.421+17C>A (n.421+17C>A)
c.385+17C>A (n.385+17C>A)
c.202+17C>A (n.202+17C>A)
n.291+17C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553228C=CA1955197654OTOGc.421+17C= (n.421+17C=)
c.385+17C= (n.385+17C=)
c.202+17C= (n.202+17C=)
n.291+17C=
11g.17553228C>TCA2612679372OTOGc.421+17C>T (n.421+17C>T)
c.385+17C>T (n.385+17C>T)
c.202+17C>T (n.202+17C>T)
n.291+17C>T
 gnomAD v4
11g.17553231delCA1955197653OTOGc.421+20del (n.421+20del)
c.385+20del (n.385+20del)
c.202+20del (n.202+20del)
n.291+20del
 dbSNP gnomAD v4
11g.17553229C>ACA2612679373OTOGc.421+18C>A (n.421+18C>A)
c.385+18C>A (n.385+18C>A)
c.202+18C>A (n.202+18C>A)
n.291+18C>A
 gnomAD v4
11g.17553229C=CA1955197655OTOGc.421+18C= (n.421+18C=)
c.385+18C= (n.385+18C=)
c.202+18C= (n.202+18C=)
n.291+18C=
11g.17553229C>TCA218489871OTOGc.421+18C>T (n.421+18C>T)
c.385+18C>T (n.385+18C>T)
c.202+18C>T (n.202+18C>T)
n.291+18C>T
 dbSNP gnomAD v4
11g.17553230C>ACA2612679374OTOGc.421+19C>A (n.421+19C>A)
c.385+19C>A (n.385+19C>A)
c.202+19C>A (n.202+19C>A)
n.291+19C>A
 gnomAD v4
11g.17553230C=CA1955197656OTOGc.421+19C= (n.421+19C=)
c.385+19C= (n.385+19C=)
c.202+19C= (n.202+19C=)
n.291+19C=
11g.17553230C>TCA674246526OTOGc.421+19C>T (n.421+19C>T)
c.385+19C>T (n.385+19C>T)
c.202+19C>T (n.202+19C>T)
n.291+19C>T
 dbSNP gnomAD v3 gnomAD v4
11g.17553231C=CA1955197657OTOGc.421+20C= (n.421+20C=)
c.385+20C= (n.385+20C=)
c.202+20C= (n.202+20C=)
n.291+20C=
11g.17553231C>GCA597904749OTOGc.421+20C>G (n.421+20C>G)
c.385+20C>G (n.385+20C>G)
c.202+20C>G (n.202+20C>G)
n.291+20C>G
 dbSNP gnomAD v2 gnomAD v4
11g.17553231C>TCA2612679375OTOGc.421+20C>T (n.421+20C>T)
c.385+20C>T (n.385+20C>T)
c.202+20C>T (n.202+20C>T)
n.291+20C>T
 gnomAD v4
11g.17553232_17553233delinsACCA1955197658OTOGc.421+21_421+22delinsAC (n.421+21_421+22delinsAC)
c.385+21_385+22delinsAC (n.385+21_385+22delinsAC)
c.202+21_202+22delinsAC (n.202+21_202+22delinsAC)
n.291+21_291+22delinsAC
11g.17553233C>ACA218489887OTOGc.421+22C>A (n.421+22C>A)
c.385+22C>A (n.385+22C>A)
c.202+22C>A (n.202+22C>A)
n.291+22C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553233C=CA1955197659OTOGc.421+22C= (n.421+22C=)
c.385+22C= (n.385+22C=)
c.202+22C= (n.202+22C=)
n.291+22C=
11g.17553233C>TCA597904751OTOGc.421+22C>T (n.421+22C>T)
c.385+22C>T (n.385+22C>T)
c.202+22C>T (n.202+22C>T)
n.291+22C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553237dupCA2790596440OTOGc.421+26dup (n.421+26dup)
c.385+26dup (n.385+26dup)
c.202+26dup (n.202+26dup)
n.291+26dup
11g.17553237delCA597904750OTOGc.421+26del (n.421+26del)
c.385+26del (n.385+26del)
c.202+26del (n.202+26del)
n.291+26del
 dbSNP gnomAD v2 gnomAD v4
11g.17553234C>ACA597904752OTOGc.421+23C>A (n.421+23C>A)
c.385+23C>A (n.385+23C>A)
c.202+23C>A (n.202+23C>A)
n.291+23C>A
 dbSNP gnomAD v2 gnomAD v4
11g.17553234C=CA1955197660OTOGc.421+23C= (n.421+23C=)
c.385+23C= (n.385+23C=)
c.202+23C= (n.202+23C=)
n.291+23C=
11g.17553234C>TCA597904753OTOGc.421+23C>T (n.421+23C>T)
c.385+23C>T (n.385+23C>T)
c.202+23C>T (n.202+23C>T)
n.291+23C>T
 dbSNP gnomAD v2
11g.17553234_17553235insAAACACACA2790596441OTOGc.421+23_421+24insAAACACA (n.421+23_421+24insAAACACA)
c.385+23_385+24insAAACACA (n.385+23_385+24insAAACACA)
c.202+23_202+24insAAACACA (n.202+23_202+24insAAACACA)
n.291+23_291+24insAAACACA
11g.17553235C>ACA2566326986OTOGc.421+24C>A (n.421+24C>A)
c.385+24C>A (n.385+24C>A)
c.202+24C>A (n.202+24C>A)
n.291+24C>A
 gnomAD v4
11g.17553235C=CA1955197661OTOGc.421+24C= (n.421+24C=)
c.385+24C= (n.385+24C=)
c.202+24C= (n.202+24C=)
n.291+24C=
11g.17553235C>GCA597904754OTOGc.421+24C>G (n.421+24C>G)
c.385+24C>G (n.385+24C>G)
c.202+24C>G (n.202+24C>G)
n.291+24C>G
 dbSNP gnomAD v2 gnomAD v4
11g.17553235C>TCA2612679377OTOGc.421+24C>T (n.421+24C>T)
c.385+24C>T (n.385+24C>T)
c.202+24C>T (n.202+24C>T)
n.291+24C>T
 gnomAD v4
11g.17553236C=CA1955197662OTOGc.421+25C= (n.421+25C=)
c.385+25C= (n.385+25C=)
c.202+25C= (n.202+25C=)
n.291+25C=
11g.17553236C>TCA1955197663OTOGc.421+25C>T (n.421+25C>T)
c.385+25C>T (n.385+25C>T)
c.202+25C>T (n.202+25C>T)
n.291+25C>T
 dbSNP gnomAD v4

Number of alleles fetched