Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17553354C>ACA2612679456OTOGc.422-11C>A (n.422-11C>A)
c.386-11C>A (n.386-11C>A)
c.203-11C>A (n.203-11C>A)
n.292-11C>A
 gnomAD v4
11g.17553355T>CCA1955197732OTOGc.422-10T>C (n.422-10T>C)
c.386-10T>C (n.386-10T>C)
c.203-10T>C (n.203-10T>C)
n.292-10T>C
 dbSNP
11g.17553355T=CA1955197731OTOGc.422-10T= (n.422-10T=)
c.386-10T= (n.386-10T=)
c.203-10T= (n.203-10T=)
n.292-10T=
11g.17553356C>ACA2612679458OTOGc.422-9C>A (n.422-9C>A)
c.386-9C>A (n.386-9C>A)
c.203-9C>A (n.203-9C>A)
n.292-9C>A
 gnomAD v4
11g.17553356C>TCA2612679459OTOGc.422-9C>T (n.422-9C>T)
c.386-9C>T (n.386-9C>T)
c.203-9C>T (n.203-9C>T)
n.292-9C>T
 dbSNP gnomAD v4
11g.17553357T>CCA2612679461OTOGc.422-8T>C (n.422-8T>C)
c.386-8T>C (n.386-8T>C)
c.203-8T>C (n.203-8T>C)
n.292-8T>C
 gnomAD v4
11g.17553359C>ACA2612679463OTOGc.422-6C>A (n.422-6C>A)
c.386-6C>A (n.386-6C>A)
c.203-6C>A (n.203-6C>A)
n.292-6C>A
 gnomAD v4
11g.17553359C>TCA2574770028OTOGc.422-6C>T (n.422-6C>T)
c.386-6C>T (n.386-6C>T)
c.203-6C>T (n.203-6C>T)
n.292-6C>T
 gnomAD v4
11g.17553360C>ACA2612679466OTOGc.422-5C>A (n.422-5C>A)
c.386-5C>A (n.386-5C>A)
c.203-5C>A (n.203-5C>A)
n.292-5C>A
 gnomAD v4
11g.17553360C>TCA2612679467OTOGc.422-5C>T (n.422-5C>T)
c.386-5C>T (n.386-5C>T)
c.203-5C>T (n.203-5C>T)
n.292-5C>T
 gnomAD v4
11g.17553361T>CCA2612679468OTOGc.422-4T>C (n.422-4T>C)
c.386-4T>C (n.386-4T>C)
c.203-4T>C (n.203-4T>C)
n.292-4T>C
 gnomAD v4
11g.17553362C>ACA2612679469OTOGc.422-3C>A (n.422-3C>A)
c.386-3C>A (n.386-3C>A)
c.203-3C>A (n.203-3C>A)
n.292-3C>A
 gnomAD v4
11g.17553362C>GCA2790596448OTOGc.422-3C>G (n.422-3C>G)
c.386-3C>G (n.386-3C>G)
c.203-3C>G (n.203-3C>G)
n.292-3C>G
11g.17553363A=CA1955197733OTOGc.422-2A= (n.422-2A=)
c.386-2A= (n.386-2A=)
c.203-2A= (n.203-2A=)
n.292-2A=
11g.17553363A>CCA379811001OTOGc.422-2A>C (n.422-2A>C)
c.386-2A>C (n.386-2A>C)
c.203-2A>C (n.203-2A>C)
n.292-2A>C
 dbSNP gnomAD v4
11g.17553363A>GCA218490056OTOGc.422-2A>G (n.422-2A>G)
c.386-2A>G (n.386-2A>G)
c.203-2A>G (n.203-2A>G)
n.292-2A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553363A>TCA379811000OTOGc.422-2A>T (n.422-2A>T)
c.386-2A>T (n.386-2A>T)
c.203-2A>T (n.203-2A>T)
n.292-2A>T
11g.17553364G>ACA379811002OTOGc.422-1G>A (n.422-1G>A)
c.386-1G>A (n.386-1G>A)
c.203-1G>A (n.203-1G>A)
n.292-1G>A
 dbSNP gnomAD v2 gnomAD v4
11g.17553364G>CCA379811003OTOGc.422-1G>C (n.422-1G>C)
c.386-1G>C (n.386-1G>C)
c.203-1G>C (n.203-1G>C)
n.292-1G>C
11g.17553364G=CA1955197734OTOGc.422-1G= (n.422-1G=)
c.386-1G= (n.386-1G=)
c.203-1G= (n.203-1G=)
n.292-1G=
11g.17553364G>TCA379811004OTOGc.422-1G>T (n.422-1G>T)
c.386-1G>T (n.386-1G>T)
c.203-1G>T (n.203-1G>T)
n.292-1G>T
11g.17553365T>ACA379811006OTOGc.422T>A (p.Val141Glu)
c.386T>A (p.Val129Glu)
c.203T>A (p.Val68Glu)
n.292T>A
11g.17553365T>CCA218490071OTOGc.422T>C (p.Val141Ala)
c.386T>C (p.Val129Ala)
c.203T>C (p.Val68Ala)
n.292T>C
 dbSNP gnomAD v3 gnomAD v4
11g.17553365T>GCA379811009OTOGc.422T>G (p.Val141Gly)
c.386T>G (p.Val129Gly)
c.203T>G (p.Val68Gly)
n.292T>G
 dbSNP
11g.17553365T=CA1955197735OTOGc.422T= (p.Val141=)
c.386T= (p.Val129=)
c.203T= (p.Val68=)
n.292T=
11g.17553366G>ACA473516728OTOGc.423G>A (p.Val141=)
c.387G>A (p.Val129=)
c.204G>A (p.Val68=)
n.293G>A
 gnomAD v4
11g.17553366G>CCA473516729OTOGc.423G>C (p.Val141=)
c.387G>C (p.Val129=)
c.204G>C (p.Val68=)
n.293G>C
11g.17553366G>TCA473516730OTOGc.423G>T (p.Val141=)
c.387G>T (p.Val129=)
c.204G>T (p.Val68=)
n.293G>T
11g.17553367T>ACA379811012OTOGc.424T>A (p.Tyr142Asn)
c.388T>A (p.Tyr130Asn)
c.205T>A (p.Tyr69Asn)
n.294T>A
11g.17553367T>CCA379811014OTOGc.424T>C (p.Tyr142His)
c.388T>C (p.Tyr130His)
c.205T>C (p.Tyr69His)
n.294T>C
 gnomAD v4
11g.17553367T>GCA379811016OTOGc.424T>G (p.Tyr142Asp)
c.388T>G (p.Tyr130Asp)
c.205T>G (p.Tyr69Asp)
n.294T>G
11g.17553368A=CA1955197736OTOGc.425A= (p.Tyr142=)
c.389A= (p.Tyr130=)
c.206A= (p.Tyr69=)
n.295A=
11g.17553368A>CCA379811023OTOGc.425A>C (p.Tyr142Ser)
c.389A>C (p.Tyr130Ser)
c.206A>C (p.Tyr69Ser)
n.295A>C
11g.17553368A>GCA5905351OTOGc.425A>G (p.Tyr142Cys)
c.389A>G (p.Tyr130Cys)
c.206A>G (p.Tyr69Cys)
n.295A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17553368A>TCA379811019OTOGc.425A>T (p.Tyr142Phe)
c.389A>T (p.Tyr130Phe)
c.206A>T (p.Tyr69Phe)
n.295A>T
11g.17553369C>ACA379811025OTOGc.426C>A (p.Tyr142Ter)
c.390C>A (p.Tyr130Ter)
c.207C>A (p.Tyr69Ter)
n.296C>A
11g.17553369C>GCA379811027OTOGc.426C>G (p.Tyr142Ter)
c.390C>G (p.Tyr130Ter)
c.207C>G (p.Tyr69Ter)
n.296C>G
11g.17553369C>TCA473516731OTOGc.426C>T (p.Tyr142=)
c.390C>T (p.Tyr130=)
c.207C>T (p.Tyr69=)
n.296C>T
11g.17553370A=CA1955197737OTOGc.427A= (p.Asn143=)
c.391A= (p.Asn131=)
c.208A= (p.Asn70=)
n.297A=
11g.17553370A>CCA379811030OTOGc.427A>C (p.Asn143His)
c.391A>C (p.Asn131His)
c.208A>C (p.Asn70His)
n.297A>C
11g.17553370A>GCA379811033OTOGc.427A>G (p.Asn143Asp)
c.391A>G (p.Asn131Asp)
c.208A>G (p.Asn70Asp)
n.297A>G
 dbSNP
11g.17553370A>TCA379811036OTOGc.427A>T (p.Asn143Tyr)
c.391A>T (p.Asn131Tyr)
c.208A>T (p.Asn70Tyr)
n.297A>T
11g.17553371A>CCA379811039OTOGc.428A>C (p.Asn143Thr)
c.392A>C (p.Asn131Thr)
c.209A>C (p.Asn70Thr)
n.298A>C
11g.17553371A>GCA379811041OTOGc.428A>G (p.Asn143Ser)
c.392A>G (p.Asn131Ser)
c.209A>G (p.Asn70Ser)
n.298A>G
 gnomAD v4
11g.17553371A>TCA379811044OTOGc.428A>T (p.Asn143Ile)
c.392A>T (p.Asn131Ile)
c.209A>T (p.Asn70Ile)
n.298A>T
11g.17553372T>ACA379811047OTOGc.429T>A (p.Asn143Lys)
c.393T>A (p.Asn131Lys)
c.210T>A (p.Asn70Lys)
n.299T>A
11g.17553372T>CCA473516732OTOGc.429T>C (p.Asn143=)
c.393T>C (p.Asn131=)
c.210T>C (p.Asn70=)
n.299T>C
11g.17553372T>GCA379811049OTOGc.429T>G (p.Asn143Lys)
c.393T>G (p.Asn131Lys)
c.210T>G (p.Asn70Lys)
n.299T>G
11g.17553373G>ACA379811052OTOGc.430G>A (p.Ala144Thr)
c.394G>A (p.Ala132Thr)
c.211G>A (p.Ala71Thr)
n.300G>A
 dbSNP gnomAD v3 gnomAD v4
11g.17553373G>CCA379811055OTOGc.430G>C (p.Ala144Pro)
c.394G>C (p.Ala132Pro)
c.211G>C (p.Ala71Pro)
n.300G>C
11g.17553373G=CA1955197738OTOGc.430G= (p.Ala144=)
c.394G= (p.Ala132=)
c.211G= (p.Ala71=)
n.300G=
11g.17553373G>TCA379811057OTOGc.430G>T (p.Ala144Ser)
c.394G>T (p.Ala132Ser)
c.211G>T (p.Ala71Ser)
n.300G>T
11g.17553374C>ACA5905352OTOGc.431C>A (p.Ala144Asp)
c.395C>A (p.Ala132Asp)
c.212C>A (p.Ala71Asp)
n.301C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17553374C=CA1955197739OTOGc.431C= (p.Ala144=)
c.395C= (p.Ala132=)
c.212C= (p.Ala71=)
n.301C=
11g.17553374C>GCA379811070OTOGc.431C>G (p.Ala144Gly)
c.395C>G (p.Ala132Gly)
c.212C>G (p.Ala71Gly)
n.301C>G
 gnomAD v4
11g.17553374C>TCA10576853OTOGc.431C>T (p.Ala144Val)
c.395C>T (p.Ala132Val)
c.212C>T (p.Ala71Val)
n.301C>T
 ClinVar dbSNP gnomAD v4
11g.17553375C>ACA473516733OTOGc.432C>A (p.Ala144=)
c.396C>A (p.Ala132=)
c.213C>A (p.Ala71=)
n.302C>A
 dbSNP gnomAD v4
11g.17553375C=CA1955197740OTOGc.432C= (p.Ala144=)
c.396C= (p.Ala132=)
c.213C= (p.Ala71=)
n.302C=
11g.17553375C>GCA473516734OTOGc.432C>G (p.Ala144=)
c.396C>G (p.Ala132=)
c.213C>G (p.Ala71=)
n.302C>G
11g.17553375C>TCA5905353OTOGc.432C>T (p.Ala144=)
c.396C>T (p.Ala132=)
c.213C>T (p.Ala71=)
n.302C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553376G>ACA5905354OTOGc.433G>A (p.Gly145Ser)
c.397G>A (p.Gly133Ser)
c.214G>A (p.Gly72Ser)
n.303G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553376G>CCA379811073OTOGc.433G>C (p.Gly145Arg)
c.397G>C (p.Gly133Arg)
c.214G>C (p.Gly72Arg)
n.303G>C
11g.17553376G=CA1955197741OTOGc.433G= (p.Gly145=)
c.397G= (p.Gly133=)
c.214G= (p.Gly72=)
n.303G=
11g.17553376G>TCA379811075OTOGc.433G>T (p.Gly145Cys)
c.397G>T (p.Gly133Cys)
c.214G>T (p.Gly72Cys)
n.303G>T
11g.17553377G>ACA379811078OTOGc.434G>A (p.Gly145Asp)
c.398G>A (p.Gly133Asp)
c.215G>A (p.Gly72Asp)
n.304G>A
 gnomAD v4
11g.17553377G>CCA379811079OTOGc.434G>C (p.Gly145Ala)
c.398G>C (p.Gly133Ala)
c.215G>C (p.Gly72Ala)
n.304G>C
11g.17553377G>TCA379811081OTOGc.434G>T (p.Gly145Val)
c.398G>T (p.Gly133Val)
c.215G>T (p.Gly72Val)
n.304G>T
11g.17553378C>ACA473516737OTOGc.435C>A (p.Gly145=)
c.399C>A (p.Gly133=)
c.216C>A (p.Gly72=)
n.305C>A
 gnomAD v4
11g.17553378C=CA1955197742OTOGc.435C= (p.Gly145=)
c.399C= (p.Gly133=)
c.216C= (p.Gly72=)
n.305C=
11g.17553378C>GCA473516736OTOGc.435C>G (p.Gly145=)
c.399C>G (p.Gly133=)
c.216C>G (p.Gly72=)
n.305C>G
11g.17553378C>TCA473516735OTOGc.435C>T (p.Gly145=)
c.399C>T (p.Gly133=)
c.216C>T (p.Gly72=)
n.305C>T
 dbSNP gnomAD v4
11g.17553379C>ACA379811085OTOGc.436C>A (p.Pro146Thr)
c.400C>A (p.Pro134Thr)
c.217C>A (p.Pro73Thr)
n.306C>A
11g.17553379C>GCA379811087OTOGc.436C>G (p.Pro146Ala)
c.400C>G (p.Pro134Ala)
c.217C>G (p.Pro73Ala)
n.306C>G
11g.17553379C>TCA379811089OTOGc.436C>T (p.Pro146Ser)
c.400C>T (p.Pro134Ser)
c.217C>T (p.Pro73Ser)
n.306C>T
11g.17553380C>ACA379811093OTOGc.437C>A (p.Pro146His)
c.401C>A (p.Pro134His)
c.218C>A (p.Pro73His)
n.307C>A
11g.17553380C=CA1955197743OTOGc.437C= (p.Pro146=)
c.401C= (p.Pro134=)
c.218C= (p.Pro73=)
n.307C=
11g.17553380C>GCA379811095OTOGc.437C>G (p.Pro146Arg)
c.401C>G (p.Pro134Arg)
c.218C>G (p.Pro73Arg)
n.307C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553380C>TCA379811097OTOGc.437C>T (p.Pro146Leu)
c.401C>T (p.Pro134Leu)
c.218C>T (p.Pro73Leu)
n.307C>T
11g.17553381T>ACA473516740OTOGc.438T>A (p.Pro146=)
c.402T>A (p.Pro134=)
c.219T>A (p.Pro73=)
n.308T>A
11g.17553381T>CCA473516738OTOGc.438T>C (p.Pro146=)
c.402T>C (p.Pro134=)
c.219T>C (p.Pro73=)
n.308T>C
 gnomAD v4
11g.17553381T>GCA473516739OTOGc.438T>G (p.Pro146=)
c.402T>G (p.Pro134=)
c.219T>G (p.Pro73=)
n.308T>G
 dbSNP gnomAD v2
11g.17553381T=CA1955197744OTOGc.438T= (p.Pro146=)
c.402T= (p.Pro134=)
c.219T= (p.Pro73=)
n.308T=
11g.17553382G>ACA379811104OTOGc.439G>A (p.Glu147Lys)
c.403G>A (p.Glu135Lys)
c.220G>A (p.Glu74Lys)
n.309G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553382G>CCA379811102OTOGc.439G>C (p.Glu147Gln)
c.403G>C (p.Glu135Gln)
c.220G>C (p.Glu74Gln)
n.309G>C
11g.17553382G=CA1955197745OTOGc.439G= (p.Glu147=)
c.403G= (p.Glu135=)
c.220G= (p.Glu74=)
n.309G=
11g.17553382G>TCA379811100OTOGc.439G>T (p.Glu147Ter)
c.403G>T (p.Glu135Ter)
c.220G>T (p.Glu74Ter)
n.309G>T
11g.17553383A>CCA379811109OTOGc.440A>C (p.Glu147Ala)
c.404A>C (p.Glu135Ala)
c.221A>C (p.Glu74Ala)
n.310A>C
11g.17553383A>GCA379811111OTOGc.440A>G (p.Glu147Gly)
c.404A>G (p.Glu135Gly)
c.221A>G (p.Glu74Gly)
n.310A>G
 gnomAD v4
11g.17553383A>TCA379811114OTOGc.440A>T (p.Glu147Val)
c.404A>T (p.Glu135Val)
c.221A>T (p.Glu74Val)
n.310A>T
11g.17553384G>ACA5905355OTOGc.441G>A (p.Glu147=)
c.405G>A (p.Glu135=)
c.222G>A (p.Glu74=)
n.311G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17553384G>CCA379811122OTOGc.441G>C (p.Glu147Asp)
c.405G>C (p.Glu135Asp)
c.222G>C (p.Glu74Asp)
n.311G>C
11g.17553384G=CA1955197746OTOGc.441G= (p.Glu147=)
c.405G= (p.Glu135=)
c.222G= (p.Glu74=)
n.311G=
11g.17553384G>TCA379811125OTOGc.441G>T (p.Glu147Asp)
c.405G>T (p.Glu135Asp)
c.222G>T (p.Glu74Asp)
n.311G>T
11g.17553385A>CCA473516741OTOGc.442A>C (p.Arg148=)
c.406A>C (p.Arg136=)
c.223A>C (p.Arg75=)
n.312A>C
11g.17553385A>GCA379811128OTOGc.442A>G (p.Arg148Gly)
c.406A>G (p.Arg136Gly)
c.223A>G (p.Arg75Gly)
n.312A>G
 gnomAD v4
11g.17553385A>TCA379811132OTOGc.442A>T (p.Arg148Trp)
c.406A>T (p.Arg136Trp)
c.223A>T (p.Arg75Trp)
n.312A>T
11g.17553386G>ACA379811135OTOGc.443G>A (p.Arg148Lys)
c.407G>A (p.Arg136Lys)
c.224G>A (p.Arg75Lys)
n.313G>A
 gnomAD v4
11g.17553386G>CCA379811138OTOGc.443G>C (p.Arg148Thr)
c.407G>C (p.Arg136Thr)
c.224G>C (p.Arg75Thr)
n.313G>C
11g.17553386G>TCA379811141OTOGc.443G>T (p.Arg148Met)
c.407G>T (p.Arg136Met)
c.224G>T (p.Arg75Met)
n.313G>T
 gnomAD v4
11g.17553388dupCA2841250665OTOGc.445dup (p.Asp149GlyfsTer16)
c.409dup (p.Asp137GlyfsTer16)
c.226dup (p.Asp76GlyfsTer16)
n.315dup
11g.17553387G>ACA473516742OTOGc.444G>A (p.Arg148=)
c.408G>A (p.Arg136=)
c.225G>A (p.Arg75=)
n.314G>A
 gnomAD v4
11g.17553387G>CCA379811150OTOGc.444G>C (p.Arg148Ser)
c.408G>C (p.Arg136Ser)
c.225G>C (p.Arg75Ser)
n.314G>C
11g.17553387G>TCA379811154OTOGc.444G>T (p.Arg148Ser)
c.408G>T (p.Arg136Ser)
c.225G>T (p.Arg75Ser)
n.314G>T
 COSMIC COSMIC
11g.17553388G>ACA218490106OTOGc.445G>A (p.Asp149Asn)
c.409G>A (p.Asp137Asn)
c.226G>A (p.Asp76Asn)
n.315G>A
 dbSNP
11g.17553388G>CCA379811159OTOGc.445G>C (p.Asp149His)
c.409G>C (p.Asp137His)
c.226G>C (p.Asp76His)
n.315G>C
 gnomAD v4
11g.17553388G=CA1955197747OTOGc.445G= (p.Asp149=)
c.409G= (p.Asp137=)
c.226G= (p.Asp76=)
n.315G=
11g.17553388G>TCA379811157OTOGc.445G>T (p.Asp149Tyr)
c.409G>T (p.Asp137Tyr)
c.226G>T (p.Asp76Tyr)
n.315G>T
 gnomAD v4
11g.17553389A=CA1955197748OTOGc.446A= (p.Asp149=)
c.410A= (p.Asp137=)
c.227A= (p.Asp76=)
n.316A=
11g.17553389A>CCA379811164OTOGc.446A>C (p.Asp149Ala)
c.410A>C (p.Asp137Ala)
c.227A>C (p.Asp76Ala)
n.316A>C
 gnomAD v4
11g.17553389A>GCA218490108OTOGc.446A>G (p.Asp149Gly)
c.410A>G (p.Asp137Gly)
c.227A>G (p.Asp76Gly)
n.316A>G
 dbSNP gnomAD v2 gnomAD v4
11g.17553389A>TCA379811166OTOGc.446A>T (p.Asp149Val)
c.410A>T (p.Asp137Val)
c.227A>T (p.Asp76Val)
n.316A>T
11g.17553390C>ACA379811171OTOGc.447C>A (p.Asp149Glu)
c.411C>A (p.Asp137Glu)
c.228C>A (p.Asp76Glu)
n.317C>A
 gnomAD v4
11g.17553390C=CA1955197749OTOGc.447C= (p.Asp149=)
c.411C= (p.Asp137=)
c.228C= (p.Asp76=)
n.317C=
11g.17553390C>GCA379811176OTOGc.447C>G (p.Asp149Glu)
c.411C>G (p.Asp137Glu)
c.228C>G (p.Asp76Glu)
n.317C>G
 dbSNP gnomAD v2 gnomAD v4
11g.17553390C>TCA473516743OTOGc.447C>T (p.Asp149=)
c.411C>T (p.Asp137=)
c.228C>T (p.Asp76=)
n.317C>T
 dbSNP gnomAD v4
11g.17553391A>CCA379811180OTOGc.448A>C (p.Ser150Arg)
c.412A>C (p.Ser138Arg)
c.229A>C (p.Ser77Arg)
n.318A>C
11g.17553391A>GCA379811188OTOGc.448A>G (p.Ser150Gly)
c.412A>G (p.Ser138Gly)
c.229A>G (p.Ser77Gly)
n.318A>G
 gnomAD v4
11g.17553391A>TCA379811183OTOGc.448A>T (p.Ser150Cys)
c.412A>T (p.Ser138Cys)
c.229A>T (p.Ser77Cys)
n.318A>T
 gnomAD v4
11g.17553392G>ACA379811191OTOGc.449G>A (p.Ser150Asn)
c.413G>A (p.Ser138Asn)
c.230G>A (p.Ser77Asn)
n.319G>A
 dbSNP gnomAD v4
11g.17553392G>CCA379811195OTOGc.449G>C (p.Ser150Thr)
c.413G>C (p.Ser138Thr)
c.230G>C (p.Ser77Thr)
n.319G>C
11g.17553392G=CA1955197750OTOGc.449G= (p.Ser150=)
c.413G= (p.Ser138=)
c.230G= (p.Ser77=)
n.319G=
11g.17553392G>TCA379811198OTOGc.449G>T (p.Ser150Ile)
c.413G>T (p.Ser138Ile)
c.230G>T (p.Ser77Ile)
n.319G>T
 gnomAD v4
11g.17553393C>ACA379811202OTOGc.450C>A (p.Ser150Arg)
c.414C>A (p.Ser138Arg)
c.231C>A (p.Ser77Arg)
n.320C>A
 gnomAD v4
11g.17553393C>GCA379811209OTOGc.450C>G (p.Ser150Arg)
c.414C>G (p.Ser138Arg)
c.231C>G (p.Ser77Arg)
n.320C>G
11g.17553393C>TCA473516744OTOGc.450C>T (p.Ser150=)
c.414C>T (p.Ser138=)
c.231C>T (p.Ser77=)
n.320C>T
 gnomAD v4
11g.17553394A=CA1955197751OTOGc.451A= (p.Ile151=)
c.415A= (p.Ile139=)
c.232A= (p.Ile78=)
n.321A=
11g.17553394A>CCA379811215OTOGc.451A>C (p.Ile151Leu)
c.415A>C (p.Ile139Leu)
c.232A>C (p.Ile78Leu)
n.321A>C
 dbSNP gnomAD v4
11g.17553394A>GCA379811218OTOGc.451A>G (p.Ile151Val)
c.415A>G (p.Ile139Val)
c.232A>G (p.Ile78Val)
n.321A>G
11g.17553394A>TCA379811221OTOGc.451A>T (p.Ile151Phe)
c.415A>T (p.Ile139Phe)
c.232A>T (p.Ile78Phe)
n.321A>T
11g.17553395T>ACA379811227OTOGc.452T>A (p.Ile151Asn)
c.416T>A (p.Ile139Asn)
c.233T>A (p.Ile78Asn)
n.322T>A
11g.17553395T>CCA379811230OTOGc.452T>C (p.Ile151Thr)
c.416T>C (p.Ile139Thr)
c.233T>C (p.Ile78Thr)
n.322T>C
11g.17553395T>GCA379811234OTOGc.452T>G (p.Ile151Ser)
c.416T>G (p.Ile139Ser)
c.233T>G (p.Ile78Ser)
n.322T>G
11g.17553396T>ACA473516745OTOGc.453T>A (p.Ile151=)
c.417T>A (p.Ile139=)
c.234T>A (p.Ile78=)
n.323T>A
11g.17553396T>CCA473516746OTOGc.453T>C (p.Ile151=)
c.417T>C (p.Ile139=)
c.234T>C (p.Ile78=)
n.323T>C
11g.17553396T>GCA379811244OTOGc.453T>G (p.Ile151Met)
c.417T>G (p.Ile139Met)
c.234T>G (p.Ile78Met)
n.323T>G
11g.17553397T>ACA379811255OTOGc.454T>A (p.Cys152Ser)
c.418T>A (p.Cys140Ser)
c.235T>A (p.Cys79Ser)
n.324T>A
11g.17553397T>CCA379811252OTOGc.454T>C (p.Cys152Arg)
c.418T>C (p.Cys140Arg)
c.235T>C (p.Cys79Arg)
n.324T>C
11g.17553397T>GCA379811249OTOGc.454T>G (p.Cys152Gly)
c.418T>G (p.Cys140Gly)
c.235T>G (p.Cys79Gly)
n.324T>G
11g.17553398G>ACA379811259OTOGc.455G>A (p.Cys152Tyr)
c.419G>A (p.Cys140Tyr)
c.236G>A (p.Cys79Tyr)
n.325G>A
 gnomAD v4
11g.17553398G>CCA379811261OTOGc.455G>C (p.Cys152Ser)
c.419G>C (p.Cys140Ser)
c.236G>C (p.Cys79Ser)
n.325G>C
 gnomAD v4
11g.17553398G>TCA379811265OTOGc.455G>T (p.Cys152Phe)
c.419G>T (p.Cys140Phe)
c.236G>T (p.Cys79Phe)
n.325G>T
 gnomAD v4
11g.17553399C>ACA379811267OTOGc.456C>A (p.Cys152Ter)
c.420C>A (p.Cys140Ter)
c.237C>A (p.Cys79Ter)
n.326C>A
 gnomAD v4
11g.17553399C=CA1955197752OTOGc.456C= (p.Cys152=)
c.420C= (p.Cys140=)
c.237C= (p.Cys79=)
n.326C=
11g.17553399C>GCA379811271OTOGc.456C>G (p.Cys152Trp)
c.420C>G (p.Cys140Trp)
c.237C>G (p.Cys79Trp)
n.326C>G
11g.17553399C>TCA473516747OTOGc.456C>T (p.Cys152=)
c.420C>T (p.Cys140=)
c.237C>T (p.Cys79=)
n.326C>T
 dbSNP gnomAD v2 gnomAD v4
11g.17553400C>ACA473516748OTOGc.457C>A (p.Arg153=)
c.421C>A (p.Arg141=)
c.238C>A (p.Arg80=)
n.327C>A
 gnomAD v4
11g.17553400C=CA1955197753OTOGc.457C= (p.Arg153=)
c.421C= (p.Arg141=)
c.238C= (p.Arg80=)
n.327C=
11g.17553400C>GCA379811274OTOGc.457C>G (p.Arg153Gly)
c.421C>G (p.Arg141Gly)
c.238C>G (p.Arg80Gly)
n.327C>G
 gnomAD v4
11g.17553400C>TCA5905356OTOGc.457C>T (p.Arg153Trp)
c.421C>T (p.Arg141Trp)
c.238C>T (p.Arg80Trp)
n.327C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553402_17553405dupCA2612679533OTOGc.459_462dup (p.Trp155GlyfsTer11)
c.423_426dup (p.Trp143GlyfsTer11)
c.240_243dup (p.Trp82GlyfsTer11)
n.329_332dup
 gnomAD v4
11g.17553401G>ACA379811278OTOGc.458G>A (p.Arg153Gln)
c.422G>A (p.Arg141Gln)
c.239G>A (p.Arg80Gln)
n.328G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553401G>CCA379811284OTOGc.458G>C (p.Arg153Pro)
c.422G>C (p.Arg141Pro)
c.239G>C (p.Arg80Pro)
n.328G>C
 dbSNP gnomAD v2 gnomAD v4
11g.17553401G=CA1955197754OTOGc.458G= (p.Arg153=)
c.422G= (p.Arg141=)
c.239G= (p.Arg80=)
n.328G=
11g.17553401G>TCA379811289OTOGc.458G>T (p.Arg153Leu)
c.422G>T (p.Arg141Leu)
c.239G>T (p.Arg80Leu)
n.328G>T
 gnomAD v4
11g.17553402G>ACA473516751OTOGc.459G>A (p.Arg153=)
c.423G>A (p.Arg141=)
c.240G>A (p.Arg80=)
n.329G>A
 gnomAD v4
11g.17553402G>CCA473516750OTOGc.459G>C (p.Arg153=)
c.423G>C (p.Arg141=)
c.240G>C (p.Arg80=)
n.329G>C
11g.17553402G>TCA473516749OTOGc.459G>T (p.Arg153=)
c.423G>T (p.Arg141=)
c.240G>T (p.Arg80=)
n.329G>T
11g.17553403G>ACA379811293OTOGc.460G>A (p.Ala154Thr)
c.424G>A (p.Ala142Thr)
c.241G>A (p.Ala81Thr)
n.330G>A
11g.17553403G>CCA379811295OTOGc.460G>C (p.Ala154Pro)
c.424G>C (p.Ala142Pro)
c.241G>C (p.Ala81Pro)
n.330G>C
11g.17553403G>TCA379811297OTOGc.460G>T (p.Ala154Ser)
c.424G>T (p.Ala142Ser)
c.241G>T (p.Ala81Ser)
n.330G>T
11g.17553404C>ACA379811304OTOGc.461C>A (p.Ala154Glu)
c.425C>A (p.Ala142Glu)
c.242C>A (p.Ala81Glu)
n.331C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553404C=CA1955197755OTOGc.461C= (p.Ala154=)
c.425C= (p.Ala142=)
c.242C= (p.Ala81=)
n.331C=
11g.17553404C>GCA379811307OTOGc.461C>G (p.Ala154Gly)
c.425C>G (p.Ala142Gly)
c.242C>G (p.Ala81Gly)
n.331C>G
 gnomAD v4
11g.17553404C>TCA218490112OTOGc.461C>T (p.Ala154Val)
c.425C>T (p.Ala142Val)
c.242C>T (p.Ala81Val)
n.331C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553405G>ACA5905357OTOGc.462G>A (p.Ala154=)
c.426G>A (p.Ala142=)
c.243G>A (p.Ala81=)
n.332G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553405G>CCA473516752OTOGc.462G>C (p.Ala154=)
c.426G>C (p.Ala142=)
c.243G>C (p.Ala81=)
n.332G>C
11g.17553405G=CA1955197756OTOGc.462G= (p.Ala154=)
c.426G= (p.Ala142=)
c.243G= (p.Ala81=)
n.332G=
11g.17553405G>TCA5905358OTOGc.462G>T (p.Ala154=)
c.426G>T (p.Ala142=)
c.243G>T (p.Ala81=)
n.332G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553406T>ACA379811313OTOGc.463T>A (p.Trp155Arg)
c.427T>A (p.Trp143Arg)
c.244T>A (p.Trp82Arg)
n.333T>A
11g.17553406T>CCA379811315OTOGc.463T>C (p.Trp155Arg)
c.427T>C (p.Trp143Arg)
c.244T>C (p.Trp82Arg)
n.333T>C
11g.17553406T>GCA379811318OTOGc.463T>G (p.Trp155Gly)
c.427T>G (p.Trp143Gly)
c.244T>G (p.Trp82Gly)
n.333T>G
11g.17553406_17553407delinsTGCA1955197757OTOGc.463_464delinsTG (p.Trp155=)
c.427_428delinsTG (p.Trp143=)
c.244_245delinsTG (p.Trp82=)
n.333_334delinsTG
11g.17553407G>ACA379811322OTOGc.464G>A (p.Trp155Ter)
c.428G>A (p.Trp143Ter)
c.245G>A (p.Trp82Ter)
n.334G>A
 gnomAD v4
11g.17553407G>CCA379811325OTOGc.464G>C (p.Trp155Ser)
c.428G>C (p.Trp143Ser)
c.245G>C (p.Trp82Ser)
n.334G>C
11g.17553407G>TCA379811326OTOGc.464G>T (p.Trp155Leu)
c.428G>T (p.Trp143Leu)
c.245G>T (p.Trp82Leu)
n.334G>T
 gnomAD v4
11g.17553411dupCA2612679566OTOGc.468dup (p.Gln157AlafsTer8)
c.432dup (p.Gln145AlafsTer8)
c.249dup (p.Gln84AlafsTer8)
n.338dup
 gnomAD v4
11g.17553411delCA597904650OTOGc.468del (p.Gln157SerfsTer?)
c.432del (p.Gln145SerfsTer?)
c.249del (p.Gln84SerfsTer?)
n.338del
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17553408G>ACA379811327OTOGc.465G>A (p.Trp155Ter)
c.429G>A (p.Trp143Ter)
c.246G>A (p.Trp82Ter)
n.335G>A
11g.17553408G>CCA379811328OTOGc.465G>C (p.Trp155Cys)
c.429G>C (p.Trp143Cys)
c.246G>C (p.Trp82Cys)
n.335G>C
11g.17553408G>TCA379811330OTOGc.465G>T (p.Trp155Cys)
c.429G>T (p.Trp143Cys)
c.246G>T (p.Trp82Cys)
n.335G>T
 gnomAD v4
11g.17553409G>ACA379811339OTOGc.466G>A (p.Gly156Arg)
c.430G>A (p.Gly144Arg)
c.247G>A (p.Gly83Arg)
n.336G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.17553409G>CCA379811333OTOGc.466G>C (p.Gly156Arg)
c.430G>C (p.Gly144Arg)
c.247G>C (p.Gly83Arg)
n.336G>C
11g.17553409G=CA1955197758OTOGc.466G= (p.Gly156=)
c.430G= (p.Gly144=)
c.247G= (p.Gly83=)
n.336G=
11g.17553409G>TCA379811336OTOGc.466G>T (p.Gly156Trp)
c.430G>T (p.Gly144Trp)
c.247G>T (p.Gly83Trp)
n.336G>T
11g.17553410G>ACA379811343OTOGc.467G>A (p.Gly156Glu)
c.431G>A (p.Gly144Glu)
c.248G>A (p.Gly83Glu)
n.337G>A
11g.17553410G>CCA379811344OTOGc.467G>C (p.Gly156Ala)
c.431G>C (p.Gly144Ala)
c.248G>C (p.Gly83Ala)
n.337G>C
11g.17553410G>TCA379811347OTOGc.467G>T (p.Gly156Val)
c.431G>T (p.Gly144Val)
c.248G>T (p.Gly83Val)
n.337G>T
 gnomAD v4
11g.17553411G>ACA473516753OTOGc.468G>A (p.Gly156=)
c.432G>A (p.Gly144=)
c.249G>A (p.Gly83=)
n.338G>A
 dbSNP gnomAD v2 gnomAD v4
11g.17553411G>CCA473516754OTOGc.468G>C (p.Gly156=)
c.432G>C (p.Gly144=)
c.249G>C (p.Gly83=)
n.338G>C
11g.17553411G=CA1955197759OTOGc.468G= (p.Gly156=)
c.432G= (p.Gly144=)
c.249G= (p.Gly83=)
n.338G=
11g.17553411G>TCA473516755OTOGc.468G>T (p.Gly156=)
c.432G>T (p.Gly144=)
c.249G>T (p.Gly83=)
n.338G>T
 gnomAD v4
11g.17553412C>ACA379811350OTOGc.469C>A (p.Gln157Lys)
c.433C>A (p.Gln145Lys)
c.250C>A (p.Gln84Lys)
n.339C>A
 dbSNP gnomAD v4
11g.17553412C=CA1955197760OTOGc.469C= (p.Gln157=)
c.433C= (p.Gln145=)
c.250C= (p.Gln84=)
n.339C=
11g.17553412C>GCA379811352OTOGc.469C>G (p.Gln157Glu)
c.433C>G (p.Gln145Glu)
c.250C>G (p.Gln84Glu)
n.339C>G
11g.17553412C>TCA379811354OTOGc.469C>T (p.Gln157Ter)
c.433C>T (p.Gln145Ter)
c.250C>T (p.Gln84Ter)
n.339C>T
 gnomAD v4
11g.17553413A>CCA379811357OTOGc.470A>C (p.Gln157Pro)
c.434A>C (p.Gln145Pro)
c.251A>C (p.Gln84Pro)
n.340A>C
11g.17553413A>GCA379811360OTOGc.470A>G (p.Gln157Arg)
c.434A>G (p.Gln145Arg)
c.251A>G (p.Gln84Arg)
n.340A>G
 gnomAD v4
11g.17553413A>TCA379811363OTOGc.470A>T (p.Gln157Leu)
c.434A>T (p.Gln145Leu)
c.251A>T (p.Gln84Leu)
n.340A>T
11g.17553414G>ACA473516756OTOGc.471G>A (p.Gln157=)
c.435G>A (p.Gln145=)
c.252G>A (p.Gln84=)
n.341G>A
 gnomAD v4
11g.17553414G>CCA379811365OTOGc.471G>C (p.Gln157His)
c.435G>C (p.Gln145His)
c.252G>C (p.Gln84His)
n.341G>C
11g.17553414G>TCA379811368OTOGc.471G>T (p.Gln157His)
c.435G>T (p.Gln145His)
c.252G>T (p.Gln84His)
n.341G>T
11g.17553415C>ACA379811374OTOGc.472C>A (p.His158Asn)
c.436C>A (p.His146Asn)
c.253C>A (p.His85Asn)
n.342C>A
 gnomAD v4
11g.17553415C>GCA379811378OTOGc.472C>G (p.His158Asp)
c.436C>G (p.His146Asp)
c.253C>G (p.His85Asp)
n.342C>G
11g.17553415C>TCA379811370OTOGc.472C>T (p.His158Tyr)
c.436C>T (p.His146Tyr)
c.253C>T (p.His85Tyr)
n.342C>T
 gnomAD v4
11g.17553416A>CCA379811389OTOGc.473A>C (p.His158Pro)
c.437A>C (p.His146Pro)
c.254A>C (p.His85Pro)
n.343A>C
11g.17553416A>GCA379811383OTOGc.473A>G (p.His158Arg)
c.437A>G (p.His146Arg)
c.254A>G (p.His85Arg)
n.343A>G
 gnomAD v4
11g.17553416A>TCA379811386OTOGc.473A>T (p.His158Leu)
c.437A>T (p.His146Leu)
c.254A>T (p.His85Leu)
n.343A>T
11g.17553417C>ACA379811392OTOGc.474C>A (p.His158Gln)
c.438C>A (p.His146Gln)
c.255C>A (p.His85Gln)
n.344C>A
 gnomAD v4 COSMIC
11g.17553417C>GCA379811395OTOGc.474C>G (p.His158Gln)
c.438C>G (p.His146Gln)
c.255C>G (p.His85Gln)
n.344C>G
11g.17553417C>TCA473516757OTOGc.474C>T (p.His158=)
c.438C>T (p.His146=)
c.255C>T (p.His85=)
n.344C>T
 gnomAD v4
11g.17553418delCA2612679581OTOGc.475del (p.His159ThrfsTer?)
c.439del (p.His147ThrfsTer?)
c.256del (p.His86ThrfsTer?)
n.345del
 gnomAD v4
11g.17553418C>ACA379811401OTOGc.475C>A (p.His159Asn)
c.439C>A (p.His147Asn)
c.256C>A (p.His86Asn)
n.345C>A
 gnomAD v4
11g.17553418C=CA1955197761OTOGc.475C= (p.His159=)
c.439C= (p.His147=)
c.256C= (p.His86=)
n.345C=
11g.17553418C>GCA379811404OTOGc.475C>G (p.His159Asp)
c.439C>G (p.His147Asp)
c.256C>G (p.His86Asp)
n.345C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553418C>TCA379811418OTOGc.475C>T (p.His159Tyr)
c.439C>T (p.His147Tyr)
c.256C>T (p.His86Tyr)
n.345C>T
 gnomAD v4
11g.17553419A=CA1955197762OTOGc.476A= (p.His159=)
c.440A= (p.His147=)
c.257A= (p.His86=)
n.346A=
11g.17553419A>CCA379811421OTOGc.476A>C (p.His159Pro)
c.440A>C (p.His147Pro)
c.257A>C (p.His86Pro)
n.346A>C
 gnomAD v4
11g.17553419A>GCA379811423OTOGc.476A>G (p.His159Arg)
c.440A>G (p.His147Arg)
c.257A>G (p.His86Arg)
n.346A>G
 dbSNP gnomAD v2 gnomAD v4
11g.17553419A>TCA379811426OTOGc.476A>T (p.His159Leu)
c.440A>T (p.His147Leu)
c.257A>T (p.His86Leu)
n.346A>T
11g.17553420C>ACA379811429OTOGc.477C>A (p.His159Gln)
c.441C>A (p.His147Gln)
c.258C>A (p.His86Gln)
n.347C>A
 gnomAD v4
11g.17553420C=CA1955197763OTOGc.477C= (p.His159=)
c.441C= (p.His147=)
c.258C= (p.His86=)
n.347C=
11g.17553420C>GCA379811430OTOGc.477C>G (p.His159Gln)
c.441C>G (p.His147Gln)
c.258C>G (p.His86Gln)
n.347C>G
11g.17553420C>TCA5905359OTOGc.477C>T (p.His159=)
c.441C>T (p.His147=)
c.258C>T (p.His86=)
n.347C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553421G>ACA379811432OTOGc.478G>A (p.Val160Met)
c.442G>A (p.Val148Met)
c.259G>A (p.Val87Met)
n.348G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553421G>CCA379811434OTOGc.478G>C (p.Val160Leu)
c.442G>C (p.Val148Leu)
c.259G>C (p.Val87Leu)
n.348G>C
 gnomAD v4
11g.17553421G=CA1955197764OTOGc.478G= (p.Val160=)
c.442G= (p.Val148=)
c.259G= (p.Val87=)
n.348G=
11g.17553421G>TCA5905360OTOGc.478G>T (p.Val160Leu)
c.442G>T (p.Val148Leu)
c.259G>T (p.Val87Leu)
n.348G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553422T>ACA379811438OTOGc.479T>A (p.Val160Glu)
c.443T>A (p.Val148Glu)
c.260T>A (p.Val87Glu)
n.349T>A
11g.17553422T>CCA379811440OTOGc.479T>C (p.Val160Ala)
c.443T>C (p.Val148Ala)
c.260T>C (p.Val87Ala)
n.349T>C
 dbSNP gnomAD v3 gnomAD v4
11g.17553422T>GCA379811442OTOGc.479T>G (p.Val160Gly)
c.443T>G (p.Val148Gly)
c.260T>G (p.Val87Gly)
n.349T>G
11g.17553422T=CA1955197765OTOGc.479T= (p.Val160=)
c.443T= (p.Val148=)
c.260T= (p.Val87=)
n.349T=
11g.17553423G>ACA473516760OTOGc.480G>A (p.Val160=)
c.444G>A (p.Val148=)
c.261G>A (p.Val87=)
n.350G>A
11g.17553423G>CCA473516759OTOGc.480G>C (p.Val160=)
c.444G>C (p.Val148=)
c.261G>C (p.Val87=)
n.350G>C
11g.17553423G>TCA473516758OTOGc.480G>T (p.Val160=)
c.444G>T (p.Val148=)
c.261G>T (p.Val87=)
n.350G>T
 gnomAD v4
11g.17553424G>ACA379811445OTOGc.481G>A (p.Glu161Lys)
c.445G>A (p.Glu149Lys)
c.262G>A (p.Glu88Lys)
n.351G>A
 gnomAD v4
11g.17553424G>CCA379811447OTOGc.481G>C (p.Glu161Gln)
c.445G>C (p.Glu149Gln)
c.262G>C (p.Glu88Gln)
n.351G>C
11g.17553424G>TCA379811449OTOGc.481G>T (p.Glu161Ter)
c.445G>T (p.Glu149Ter)
c.262G>T (p.Glu88Ter)
n.351G>T
 gnomAD v4
11g.17553425A>CCA379811452OTOGc.482A>C (p.Glu161Ala)
c.446A>C (p.Glu149Ala)
c.263A>C (p.Glu88Ala)
n.352A>C
11g.17553425A>GCA379811454OTOGc.482A>G (p.Glu161Gly)
c.446A>G (p.Glu149Gly)
c.263A>G (p.Glu88Gly)
n.352A>G
 gnomAD v4
11g.17553425A>TCA379811456OTOGc.482A>T (p.Glu161Val)
c.446A>T (p.Glu149Val)
c.263A>T (p.Glu88Val)
n.352A>T
11g.17553426G>ACA473516761OTOGc.483G>A (p.Glu161=)
c.447G>A (p.Glu149=)
c.264G>A (p.Glu88=)
n.353G>A
11g.17553426G>CCA379811458OTOGc.483G>C (p.Glu161Asp)
c.447G>C (p.Glu149Asp)
c.264G>C (p.Glu88Asp)
n.353G>C
11g.17553426G>TCA379811464OTOGc.483G>T (p.Glu161Asp)
c.447G>T (p.Glu149Asp)
c.264G>T (p.Glu88Asp)
n.353G>T
 gnomAD v4
11g.17553427A=CA1955197766OTOGc.484A= (p.Thr162=)
c.448A= (p.Thr150=)
c.265A= (p.Thr89=)
n.354A=
11g.17553427A>CCA379811470OTOGc.484A>C (p.Thr162Pro)
c.448A>C (p.Thr150Pro)
c.265A>C (p.Thr89Pro)
n.354A>C
11g.17553427A>GCA379811472OTOGc.484A>G (p.Thr162Ala)
c.448A>G (p.Thr150Ala)
c.265A>G (p.Thr89Ala)
n.354A>G
 dbSNP
11g.17553427A>TCA379811468OTOGc.484A>T (p.Thr162Ser)
c.448A>T (p.Thr150Ser)
c.265A>T (p.Thr89Ser)
n.354A>T
 gnomAD v4
11g.17553427dupCA2838982836OTOGc.484dup (p.Thr162AsnfsTer3)
c.448dup (p.Thr150AsnfsTer3)
c.265dup (p.Thr89AsnfsTer3)
n.354dup
11g.17553428C>ACA379811480OTOGc.485C>A (p.Thr162Lys)
c.449C>A (p.Thr150Lys)
c.266C>A (p.Thr89Lys)
n.355C>A
 gnomAD v4
11g.17553428C>GCA379811482OTOGc.485C>G (p.Thr162Arg)
c.449C>G (p.Thr150Arg)
c.266C>G (p.Thr89Arg)
n.355C>G
 gnomAD v4
11g.17553428C>TCA379811483OTOGc.485C>T (p.Thr162Ile)
c.449C>T (p.Thr150Ile)
c.266C>T (p.Thr89Ile)
n.355C>T
 gnomAD v4
11g.17553429A=CA1955197767OTOGc.486A= (p.Thr162=)
c.450A= (p.Thr150=)
c.267A= (p.Thr89=)
n.356A=
11g.17553429A>CCA473516762OTOGc.486A>C (p.Thr162=)
c.450A>C (p.Thr150=)
c.267A>C (p.Thr89=)
n.356A>C
11g.17553429A>GCA5905361OTOGc.486A>G (p.Thr162=)
c.450A>G (p.Thr150=)
c.267A>G (p.Thr89=)
n.356A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17553429A>TCA473516763OTOGc.486A>T (p.Thr162=)
c.450A>T (p.Thr150=)
c.267A>T (p.Thr89=)
n.356A>T
11g.17553430T>ACA379811484OTOGc.487T>A (p.Phe163Ile)
c.451T>A (p.Phe151Ile)
c.268T>A (p.Phe90Ile)
n.357T>A
 gnomAD v4
11g.17553430T>CCA379811485OTOGc.487T>C (p.Phe163Leu)
c.451T>C (p.Phe151Leu)
c.268T>C (p.Phe90Leu)
n.357T>C
 dbSNP gnomAD v2 gnomAD v4
11g.17553430T>GCA379811486OTOGc.487T>G (p.Phe163Val)
c.451T>G (p.Phe151Val)
c.268T>G (p.Phe90Val)
n.357T>G
11g.17553430T=CA1955197768OTOGc.487T= (p.Phe163=)
c.451T= (p.Phe151=)
c.268T= (p.Phe90=)
n.357T=
11g.17553432delCA2612679619OTOGc.489del (p.Phe163LeufsTer?)
c.453del (p.Phe151LeufsTer?)
c.270del (p.Phe90LeufsTer?)
n.359del
 gnomAD v4
11g.17553431T>ACA379811489OTOGc.488T>A (p.Phe163Tyr)
c.452T>A (p.Phe151Tyr)
c.269T>A (p.Phe90Tyr)
n.358T>A
 gnomAD v4
11g.17553431T>CCA379811491OTOGc.488T>C (p.Phe163Ser)
c.452T>C (p.Phe151Ser)
c.269T>C (p.Phe90Ser)
n.358T>C
 dbSNP gnomAD v2 gnomAD v4
11g.17553431T>GCA379811493OTOGc.488T>G (p.Phe163Cys)
c.452T>G (p.Phe151Cys)
c.269T>G (p.Phe90Cys)
n.358T>G
11g.17553431T=CA1955197769OTOGc.488T= (p.Phe163=)
c.452T= (p.Phe151=)
c.269T= (p.Phe90=)
n.358T=
11g.17553432T>ACA379811496OTOGc.489T>A (p.Phe163Leu)
c.453T>A (p.Phe151Leu)
c.270T>A (p.Phe90Leu)
n.359T>A
11g.17553432T>CCA473516764OTOGc.489T>C (p.Phe163=)
c.453T>C (p.Phe151=)
c.270T>C (p.Phe90=)
n.359T>C
 dbSNP gnomAD v4
11g.17553432T>GCA379811498OTOGc.489T>G (p.Phe163Leu)
c.453T>G (p.Phe151Leu)
c.270T>G (p.Phe90Leu)
n.359T>G
11g.17553432T=CA1955197770OTOGc.489T= (p.Phe163=)
c.453T= (p.Phe151=)
c.270T= (p.Phe90=)
n.359T=
11g.17553433G>ACA379811504OTOGc.490G>A (p.Asp164Asn)
c.454G>A (p.Asp152Asn)
c.271G>A (p.Asp91Asn)
n.360G>A
11g.17553433G>CCA379811506OTOGc.490G>C (p.Asp164His)
c.454G>C (p.Asp152His)
c.271G>C (p.Asp91His)
n.360G>C
11g.17553433G>TCA379811501OTOGc.490G>T (p.Asp164Tyr)
c.454G>T (p.Asp152Tyr)
c.271G>T (p.Asp91Tyr)
n.360G>T
 gnomAD v4
11g.17553434A=CA1955197771OTOGc.491A= (p.Asp164=)
c.455A= (p.Asp152=)
c.272A= (p.Asp91=)
n.361A=
11g.17553434A>CCA379811510OTOGc.491A>C (p.Asp164Ala)
c.455A>C (p.Asp152Ala)
c.272A>C (p.Asp91Ala)
n.361A>C
 dbSNP gnomAD v3 gnomAD v4
11g.17553434A>GCA379811512OTOGc.491A>G (p.Asp164Gly)
c.455A>G (p.Asp152Gly)
c.272A>G (p.Asp91Gly)
n.361A>G
 gnomAD v4
11g.17553434A>TCA379811514OTOGc.491A>T (p.Asp164Val)
c.455A>T (p.Asp152Val)
c.272A>T (p.Asp91Val)
n.361A>T
 gnomAD v4
11g.17553435T>ACA379811517OTOGc.492T>A (p.Asp164Glu)
c.456T>A (p.Asp152Glu)
c.273T>A (p.Asp91Glu)
n.362T>A
11g.17553435T>CCA473516765OTOGc.492T>C (p.Asp164=)
c.456T>C (p.Asp152=)
c.273T>C (p.Asp91=)
n.362T>C
 gnomAD v4
11g.17553435T>GCA379811519OTOGc.492T>G (p.Asp164Glu)
c.456T>G (p.Asp152Glu)
c.273T>G (p.Asp91Glu)
n.362T>G
11g.17553436_17553445delCA2790596449OTOGc.493_502del (p.Gly165ThrfsTer?)
c.457_466del (p.Gly153ThrfsTer?)
n.363_372del
 ClinVar
11g.17553436G>ACA379811526OTOGc.493G>A (p.Gly165Arg)
c.457G>A (p.Gly153Arg)
c.274G>A (p.Gly92Arg)
n.363G>A
 gnomAD v4
11g.17553436G>CCA379811523OTOGc.493G>C (p.Gly165Arg)
c.457G>C (p.Gly153Arg)
c.274G>C (p.Gly92Arg)
n.363G>C
11g.17553436G>TCA379811521OTOGc.493G>T (p.Gly165Trp)
c.457G>T (p.Gly153Trp)
c.274G>T (p.Gly92Trp)
n.363G>T
 gnomAD v4
11g.17553437G>ACA379811528OTOGc.494G>A (p.Gly165Glu)
c.458G>A (p.Gly153Glu)
c.275G>A (p.Gly92Glu)
n.364G>A
 gnomAD v4
11g.17553437G>CCA379811530OTOGc.494G>C (p.Gly165Ala)
c.458G>C (p.Gly153Ala)
c.275G>C (p.Gly92Ala)
n.364G>C
11g.17553437G>TCA379811532OTOGc.494G>T (p.Gly165Val)
c.458G>T (p.Gly153Val)
c.275G>T (p.Gly92Val)
n.364G>T
 gnomAD v4
11g.17553438G>ACA473516766OTOGc.495G>A (p.Gly165=)
c.459G>A (p.Gly153=)
c.276G>A (p.Gly92=)
n.365G>A
 dbSNP gnomAD v4
11g.17553438G>CCA473516767OTOGc.495G>C (p.Gly165=)
c.459G>C (p.Gly153=)
c.276G>C (p.Gly92=)
n.365G>C
 gnomAD v4
11g.17553438G=CA1955197772OTOGc.495G= (p.Gly165=)
c.459G= (p.Gly153=)
c.276G= (p.Gly92=)
n.365G=
11g.17553438G>TCA473516768OTOGc.495G>T (p.Gly165=)
c.459G>T (p.Gly153=)
c.276G>T (p.Gly92=)
n.365G>T
 ClinVar dbSNP gnomAD v4
11g.17553439C>ACA379811534OTOGc.496C>A (p.Leu166Ile)
c.460C>A (p.Leu154Ile)
c.277C>A (p.Leu93Ile)
n.366C>A
 dbSNP gnomAD v4
11g.17553439C=CA1955197773OTOGc.496C= (p.Leu166=)
c.460C= (p.Leu154=)
c.277C= (p.Leu93=)
n.366C=
11g.17553439C>GCA379811536OTOGc.496C>G (p.Leu166Val)
c.460C>G (p.Leu154Val)
c.277C>G (p.Leu93Val)
n.366C>G
 gnomAD v4
11g.17553439C>TCA379811538OTOGc.496C>T (p.Leu166Phe)
c.460C>T (p.Leu154Phe)
c.277C>T (p.Leu93Phe)
n.366C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553440T>ACA379811546OTOGc.497T>A (p.Leu166His)
c.461T>A (p.Leu154His)
c.278T>A (p.Leu93His)
n.367T>A
11g.17553440T>CCA379811545OTOGc.497T>C (p.Leu166Pro)
c.461T>C (p.Leu154Pro)
c.278T>C (p.Leu93Pro)
n.367T>C
 gnomAD v4
11g.17553440T>GCA379811542OTOGc.497T>G (p.Leu166Arg)
c.461T>G (p.Leu154Arg)
c.278T>G (p.Leu93Arg)
n.367T>G
11g.17553441C>ACA473516769OTOGc.498C>A (p.Leu166=)
c.462C>A (p.Leu154=)
c.279C>A (p.Leu93=)
n.368C>A
 gnomAD v4
11g.17553441C=CA1955197774OTOGc.498C= (p.Leu166=)
c.462C= (p.Leu154=)
c.279C= (p.Leu93=)
n.368C=
11g.17553441C>GCA473516771OTOGc.498C>G (p.Leu166=)
c.462C>G (p.Leu154=)
c.279C>G (p.Leu93=)
n.368C>G
 gnomAD v4
11g.17553441C>TCA473516770OTOGc.498C>T (p.Leu166=)
c.462C>T (p.Leu154=)
c.279C>T (p.Leu93=)
n.368C>T
 dbSNP gnomAD v2 gnomAD v4
11g.17553448_17553450delCA2612679626OTOGc.505_507del (p.Tyr169del)
c.469_471del (p.Tyr157del)
n.375_377del
 gnomAD v4
11g.17553442T>ACA379811549OTOGc.499T>A (p.Tyr167Asn)
c.463T>A (p.Tyr155Asn)
c.280T>A (p.Tyr94Asn)
n.369T>A
11g.17553442T>CCA379811553OTOGc.499T>C (p.Tyr167His)
c.463T>C (p.Tyr155His)
c.280T>C (p.Tyr94His)
n.369T>C
 gnomAD v4
11g.17553442T>GCA379811551OTOGc.499T>G (p.Tyr167Asp)
c.463T>G (p.Tyr155Asp)
c.280T>G (p.Tyr94Asp)
n.369T>G
11g.17553443A=CA1955197775OTOGc.500A= (p.Tyr167=)
c.464A= (p.Tyr155=)
c.281A= (p.Tyr94=)
n.370A=
11g.17553443A>CCA379811556OTOGc.500A>C (p.Tyr167Ser)
c.464A>C (p.Tyr155Ser)
c.281A>C (p.Tyr94Ser)
n.370A>C
 gnomAD v4
11g.17553443A>GCA218490163OTOGc.500A>G (p.Tyr167Cys)
c.464A>G (p.Tyr155Cys)
c.281A>G (p.Tyr94Cys)
n.370A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553443A>TCA379811559OTOGc.500A>T (p.Tyr167Phe)
c.464A>T (p.Tyr155Phe)
c.281A>T (p.Tyr94Phe)
n.370A>T
 gnomAD v4
11g.17553444C>ACA379811561OTOGc.501C>A (p.Tyr167Ter)
c.465C>A (p.Tyr155Ter)
c.282C>A (p.Tyr94Ter)
n.371C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553444C=CA1955197776OTOGc.501C= (p.Tyr167=)
c.465C= (p.Tyr155=)
c.282C= (p.Tyr94=)
n.371C=
11g.17553444C>GCA379811562OTOGc.501C>G (p.Tyr167Ter)
c.465C>G (p.Tyr155Ter)
c.282C>G (p.Tyr94Ter)
n.371C>G
 gnomAD v4
11g.17553444C>TCA473516772OTOGc.501C>T (p.Tyr167=)
c.465C>T (p.Tyr155=)
c.282C>T (p.Tyr94=)
n.371C>T
 gnomAD v4
11g.17553445T>ACA379811563OTOGc.502T>A (p.Tyr168Asn)
c.466T>A (p.Tyr156Asn)
n.372T>A
11g.17553445T>CCA379811564OTOGc.502T>C (p.Tyr168His)
c.466T>C (p.Tyr156His)
n.372T>C
 gnomAD v4
11g.17553445T>GCA379811567OTOGc.502T>G (p.Tyr168Asp)
c.466T>G (p.Tyr156Asp)
n.372T>G
11g.17553446A>CCA379811569OTOGc.503A>C (p.Tyr168Ser)
c.467A>C (p.Tyr156Ser)
n.373A>C
 gnomAD v4
11g.17553446A>GCA379811570OTOGc.503A>G (p.Tyr168Cys)
c.467A>G (p.Tyr156Cys)
n.373A>G
 gnomAD v4
11g.17553446A>TCA379811571OTOGc.503A>T (p.Tyr168Phe)
c.467A>T (p.Tyr156Phe)
n.373A>T
 gnomAD v4
11g.17553447C>ACA379811574OTOGc.504C>A (p.Tyr168Ter)
c.468C>A (p.Tyr156Ter)
n.374C>A
 gnomAD v4
11g.17553447C>GCA379811589OTOGc.504C>G (p.Tyr168Ter)
c.468C>G (p.Tyr156Ter)
n.374C>G
 gnomAD v4
11g.17553447C>TCA473516773OTOGc.504C>T (p.Tyr168=)
c.468C>T (p.Tyr156=)
n.374C>T
 gnomAD v4
11g.17553448T>ACA379811597OTOGc.505T>A (p.Tyr169Asn)
c.469T>A (p.Tyr157Asn)
n.375T>A
11g.17553448T>CCA379811595OTOGc.505T>C (p.Tyr169His)
c.469T>C (p.Tyr157His)
n.375T>C
 dbSNP gnomAD v3 gnomAD v4
11g.17553448T>GCA379811593OTOGc.505T>G (p.Tyr169Asp)
c.469T>G (p.Tyr157Asp)
n.375T>G
11g.17553448T=CA1955197777OTOGc.505T= (p.Tyr169=)
c.469T= (p.Tyr157=)
n.375T=
11g.17553449A>CCA379811599OTOGc.506A>C (p.Tyr169Ser)
c.470A>C (p.Tyr157Ser)
n.376A>C
 gnomAD v4
11g.17553449A>GCA379811601OTOGc.506A>G (p.Tyr169Cys)
c.470A>G (p.Tyr157Cys)
n.376A>G
 gnomAD v4 COSMIC
11g.17553449A>TCA379811602OTOGc.506A>T (p.Tyr169Phe)
c.470A>T (p.Tyr157Phe)
n.376A>T
11g.17553450C>ACA379811603OTOGc.507C>A (p.Tyr169Ter)
c.471C>A (p.Tyr157Ter)
n.377C>A
 gnomAD v4
11g.17553450C>GCA379811605OTOGc.507C>G (p.Tyr169Ter)
c.471C>G (p.Tyr157Ter)
n.377C>G
 gnomAD v4
11g.17553450C>TCA473516774OTOGc.507C>T (p.Tyr169=)
c.471C>T (p.Tyr157=)
n.377C>T
11g.17553451C>ACA379811608OTOGc.508C>A (p.Leu170Ile)
c.472C>A (p.Leu158Ile)
n.378C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17553451C=CA1955197778OTOGc.508C= (p.Leu170=)
c.472C= (p.Leu158=)
n.378C=
11g.17553451C>GCA379811610OTOGc.508C>G (p.Leu170Val)
c.472C>G (p.Leu158Val)
n.378C>G
11g.17553451C>TCA218490169OTOGc.508C>T (p.Leu170Phe)
c.472C>T (p.Leu158Phe)
n.378C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17553452T>ACA379811619OTOGc.509T>A (p.Leu170His)
c.473T>A (p.Leu158His)
n.379T>A
11g.17553452T>CCA379811622OTOGc.509T>C (p.Leu170Pro)
c.473T>C (p.Leu158Pro)
n.379T>C
 gnomAD v4
11g.17553452T>GCA379811624OTOGc.509T>G (p.Leu170Arg)
c.473T>G (p.Leu158Arg)
n.379T>G
11g.17553453C>ACA473516775OTOGc.510C>A (p.Leu170=)
c.474C>A (p.Leu158=)
n.380C>A
 ClinVar gnomAD v4
11g.17553453C=CA1955197779OTOGc.510C= (p.Leu170=)
c.474C= (p.Leu158=)
n.380C=
11g.17553453C>GCA473516776OTOGc.510C>G (p.Leu170=)
c.474C>G (p.Leu158=)
n.380C>G
11g.17553453C>TCA473516777OTOGc.510C>T (p.Leu170=)
c.474C>T (p.Leu158=)
n.380C>T
 dbSNP gnomAD v4
11g.17553454T>ACA379811632OTOGc.511T>A (p.Ser171Thr)
c.475T>A (p.Ser159Thr)
n.381T>A
11g.17553454T>CCA379811630OTOGc.511T>C (p.Ser171Pro)
c.475T>C (p.Ser159Pro)
n.381T>C
 gnomAD v4
11g.17553454T>GCA379811629OTOGc.511T>G (p.Ser171Ala)
c.475T>G (p.Ser159Ala)
n.381T>G

Number of alleles fetched