Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.101646713A=CA2200628454TM2D3c.502+12T= (n.502+12T=)
c.424+12T= (n.424+12T=)
c.333+12T=
c.803+12T=
n.535T=
c.*870+12T= (n.*870+12T=)
n.456T=
c.307+12T= (n.307+12T=)
15g.101646713A>CCA973551192TM2D3c.502+12T>G (n.502+12T>G)
c.424+12T>G (n.424+12T>G)
c.333+12T>G
c.803+12T>G
n.535T>G
c.*870+12T>G (n.*870+12T>G)
n.456T>G
c.307+12T>G (n.307+12T>G)
dbSNP gnomAD v3 gnomAD v4
15g.101646714C=CA2200628455TM2D3c.502+11G= (n.502+11G=)
c.424+11G= (n.424+11G=)
c.333+11G=
c.803+11G=
n.534G=
c.*870+11G= (n.*870+11G=)
n.455G=
c.307+11G= (n.307+11G=)
15g.101646714C>GCA620302628TM2D3c.502+11G>C (n.502+11G>C)
c.424+11G>C (n.424+11G>C)
c.333+11G>C
c.803+11G>C
n.534G>C
c.*870+11G>C (n.*870+11G>C)
n.455G>C
c.307+11G>C (n.307+11G>C)
dbSNP gnomAD v2 gnomAD v4
15g.101646714C>TCA7764579TM2D3c.502+11G>A (n.502+11G>A)
c.424+11G>A (n.424+11G>A)
c.333+11G>A
c.803+11G>A
n.534G>A
c.*870+11G>A (n.*870+11G>A)
n.455G>A
c.307+11G>A (n.307+11G>A)
dbSNP ExAC gnomAD v3 gnomAD v4
15g.101646715T>ACA7764580TM2D3c.502+10A>T (n.502+10A>T)
c.424+10A>T (n.424+10A>T)
c.333+10A>T
c.803+10A>T
n.533A>T
c.*870+10A>T (n.*870+10A>T)
n.454A>T
c.307+10A>T (n.307+10A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.101646715T=CA2200628456TM2D3c.502+10A= (n.502+10A=)
c.424+10A= (n.424+10A=)
c.333+10A=
c.803+10A=
n.533A=
c.*870+10A= (n.*870+10A=)
n.454A=
c.307+10A= (n.307+10A=)
15g.101646716C=CA2200628457TM2D3c.502+9G= (n.502+9G=)
c.424+9G= (n.424+9G=)
c.333+9G=
c.803+9G=
n.532G=
c.*870+9G= (n.*870+9G=)
n.453G=
c.307+9G= (n.307+9G=)
15g.101646716C>TCA2200628458TM2D3c.502+9G>A (n.502+9G>A)
c.424+9G>A (n.424+9G>A)
c.333+9G>A
c.803+9G>A
n.532G>A
c.*870+9G>A (n.*870+9G>A)
n.453G>A
c.307+9G>A (n.307+9G>A)
dbSNP
15g.101646717T>CCA7764581TM2D3c.502+8A>G (n.502+8A>G)
c.424+8A>G (n.424+8A>G)
c.333+8A>G
c.803+8A>G
n.531A>G
c.*870+8A>G (n.*870+8A>G)
n.452A>G
c.307+8A>G (n.307+8A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.101646717T=CA2200628459TM2D3c.502+8A= (n.502+8A=)
c.424+8A= (n.424+8A=)
c.333+8A=
c.803+8A=
n.531A=
c.*870+8A= (n.*870+8A=)
n.452A=
c.307+8A= (n.307+8A=)
15g.101646718G>ACA2630689648TM2D3c.502+7C>T (n.502+7C>T)
c.424+7C>T (n.424+7C>T)
c.333+7C>T
c.803+7C>T
n.530C>T
c.*870+7C>T (n.*870+7C>T)
n.451C>T
c.307+7C>T (n.307+7C>T)
gnomAD v4
15g.101646721C=CA2200628460TM2D3c.502+4G= (n.502+4G=)
c.424+4G= (n.424+4G=)
c.333+4G=
c.803+4G=
n.527G=
c.*870+4G= (n.*870+4G=)
n.448G=
c.307+4G= (n.307+4G=)
15g.101646721C>GCA2200628461TM2D3c.502+4G>C (n.502+4G>C)
c.424+4G>C (n.424+4G>C)
c.333+4G>C
c.803+4G>C
n.527G>C
c.*870+4G>C (n.*870+4G>C)
n.448G>C
c.307+4G>C (n.307+4G>C)
dbSNP gnomAD v4
15g.101646722T>CCA2630689649TM2D3c.502+3A>G (n.502+3A>G)
c.424+3A>G (n.424+3A>G)
c.333+3A>G
c.803+3A>G
n.526A>G
c.*870+3A>G (n.*870+3A>G)
n.447A>G
c.307+3A>G (n.307+3A>G)
gnomAD v4
15g.101646723A>CCA393978897TM2D3c.502+2T>G (n.502+2T>G)
c.424+2T>G (n.424+2T>G)
c.333+2T>G
c.803+2T>G
n.525T>G
c.*870+2T>G (n.*870+2T>G)
n.446T>G
c.307+2T>G (n.307+2T>G)
gnomAD v4
15g.101646723A>GCA393978899TM2D3c.502+2T>C (n.502+2T>C)
c.424+2T>C (n.424+2T>C)
c.333+2T>C
c.803+2T>C
n.525T>C
c.*870+2T>C (n.*870+2T>C)
n.446T>C
c.307+2T>C (n.307+2T>C)
COSMIC
15g.101646723A>TCA393978900TM2D3c.502+2T>A (n.502+2T>A)
c.424+2T>A (n.424+2T>A)
c.333+2T>A
c.803+2T>A
n.525T>A
c.*870+2T>A (n.*870+2T>A)
n.446T>A
c.307+2T>A (n.307+2T>A)
15g.101646724C>ACA393978902TM2D3c.502+1G>T (n.502+1G>T)
c.424+1G>T (n.424+1G>T)
c.333+1G>T
c.803+1G>T
n.524G>T
c.*870+1G>T (n.*870+1G>T)
n.445G>T
c.307+1G>T (n.307+1G>T)
gnomAD v4
15g.101646724C=CA2200628462TM2D3c.502+1G= (n.502+1G=)
c.424+1G= (n.424+1G=)
c.333+1G=
c.803+1G=
n.524G=
c.*870+1G= (n.*870+1G=)
n.445G=
c.307+1G= (n.307+1G=)
15g.101646724C>GCA393978903TM2D3c.502+1G>C (n.502+1G>C)
c.424+1G>C (n.424+1G>C)
c.333+1G>C
c.803+1G>C
n.524G>C
c.*870+1G>C (n.*870+1G>C)
n.445G>C
c.307+1G>C (n.307+1G>C)
15g.101646724C>TCA393978904TM2D3c.502+1G>A (n.502+1G>A)
c.424+1G>A (n.424+1G>A)
c.333+1G>A
c.803+1G>A
n.524G>A
c.*870+1G>A (n.*870+1G>A)
n.445G>A
c.307+1G>A (n.307+1G>A)
dbSNP gnomAD v2 gnomAD v4
15g.101646725C>ACA393978906TM2D3c.502G>T (p.Gly168Cys)
c.424G>T (p.Gly142Cys)
c.333G>T
c.803G>T
n.523G>T
c.*870G>T (n.*870G>T)
n.444G>T
c.307G>T (p.Gly103Cys)
15g.101646725C>GCA393978908TM2D3c.502G>C (p.Gly168Arg)
c.424G>C (p.Gly142Arg)
c.333G>C
c.803G>C
n.523G>C
c.*870G>C (n.*870G>C)
n.444G>C
c.307G>C (p.Gly103Arg)
gnomAD v4
15g.101646725C>TCA393978910TM2D3c.502G>A (p.Gly168Ser)
c.424G>A (p.Gly142Ser)
c.333G>A
c.803G>A
n.523G>A
c.*870G>A (n.*870G>A)
n.444G>A
c.307G>A (p.Gly103Ser)
15g.101646726C>ACA393978912TM2D3c.501G>T (p.Leu167Phe)
c.423G>T (p.Leu141Phe)
c.332G>T
c.802G>T
n.522G>T
c.*869G>T (n.*869G>T)
n.443G>T
c.306G>T (p.Leu102Phe)
15g.101646726C>GCA393978914TM2D3c.501G>C (p.Leu167Phe)
c.423G>C (p.Leu141Phe)
c.332G>C
c.802G>C
n.522G>C
c.*869G>C (n.*869G>C)
n.443G>C
c.306G>C (p.Leu102Phe)
15g.101646726C>TCA492691462TM2D3c.501G>A (p.Leu167=)
c.423G>A (p.Leu141=)
c.332G>A
c.802G>A
n.522G>A
c.*869G>A (n.*869G>A)
n.443G>A
c.306G>A (p.Leu102=)
15g.101646727A>CCA393978916TM2D3c.500T>G (p.Leu167Trp)
c.422T>G (p.Leu141Trp)
c.331T>G
c.801T>G
n.521T>G
c.*868T>G (n.*868T>G)
n.442T>G
c.305T>G (p.Leu102Trp)
15g.101646727A>GCA393978917TM2D3c.500T>C (p.Leu167Ser)
c.422T>C (p.Leu141Ser)
c.331T>C
c.801T>C
n.521T>C
c.*868T>C (n.*868T>C)
n.442T>C
c.305T>C (p.Leu102Ser)
15g.101646727A>TCA393978919TM2D3c.500T>A (p.Leu167Ter)
c.422T>A (p.Leu141Ter)
c.331T>A
c.801T>A
n.521T>A
c.*868T>A (n.*868T>A)
n.442T>A
c.305T>A (p.Leu102Ter)
15g.101646728A=CA2200628463TM2D3c.499T= (p.Leu167=)
c.421T= (p.Leu141=)
c.330T=
c.800T=
n.520T=
c.*867T= (n.*867T=)
n.441T=
c.304T= (p.Leu102=)
15g.101646728A>CCA393978921TM2D3c.499T>G (p.Leu167Val)
c.421T>G (p.Leu141Val)
c.330T>G
c.800T>G
n.520T>G
c.*867T>G (n.*867T>G)
n.441T>G
c.304T>G (p.Leu102Val)
gnomAD v4
15g.101646728A>GCA492691463TM2D3c.499T>C (p.Leu167=)
c.421T>C (p.Leu141=)
c.330T>C
c.800T>C
n.520T>C
c.*867T>C (n.*867T>C)
n.441T>C
c.304T>C (p.Leu102=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.101646728A>TCA393978923TM2D3c.499T>A (p.Leu167Met)
c.421T>A (p.Leu141Met)
c.330T>A
c.800T>A
n.520T>A
c.*867T>A (n.*867T>A)
n.441T>A
c.304T>A (p.Leu102Met)
15g.101646729G>ACA492691464TM2D3c.498C>T (p.Cys166=)
c.420C>T (p.Cys140=)
c.329C>T
c.799C>T
n.519C>T
c.*866C>T (n.*866C>T)
n.440C>T
c.303C>T (p.Cys101=)
15g.101646729G>CCA393978924TM2D3c.498C>G (p.Cys166Trp)
c.420C>G (p.Cys140Trp)
c.329C>G
c.799C>G
n.519C>G
c.*866C>G (n.*866C>G)
n.440C>G
c.303C>G (p.Cys101Trp)
15g.101646729G>TCA393978926TM2D3c.498C>A (p.Cys166Ter)
c.420C>A (p.Cys140Ter)
c.329C>A
c.799C>A
n.519C>A
c.*866C>A (n.*866C>A)
n.440C>A
c.303C>A (p.Cys101Ter)
15g.101646730C>ACA393978928TM2D3c.497G>T (p.Cys166Phe)
c.419G>T (p.Cys140Phe)
c.328G>T
c.798G>T
n.518G>T
c.*865G>T (n.*865G>T)
n.439G>T
c.302G>T (p.Cys101Phe)
15g.101646730C>GCA393978930TM2D3c.497G>C (p.Cys166Ser)
c.419G>C (p.Cys140Ser)
c.328G>C
c.798G>C
n.518G>C
c.*865G>C (n.*865G>C)
n.439G>C
c.302G>C (p.Cys101Ser)
15g.101646730C>TCA393978931TM2D3c.497G>A (p.Cys166Tyr)
c.419G>A (p.Cys140Tyr)
c.328G>A
c.798G>A
n.518G>A
c.*865G>A (n.*865G>A)
n.439G>A
c.302G>A (p.Cys101Tyr)
15g.101646731A>CCA393978932TM2D3c.496T>G (p.Cys166Gly)
c.418T>G (p.Cys140Gly)
c.327T>G
c.797T>G
n.517T>G
c.*864T>G (n.*864T>G)
n.438T>G
c.301T>G (p.Cys101Gly)
15g.101646731A>GCA393978934TM2D3c.496T>C (p.Cys166Arg)
c.418T>C (p.Cys140Arg)
c.327T>C
c.797T>C
n.517T>C
c.*864T>C (n.*864T>C)
n.438T>C
c.301T>C (p.Cys101Arg)
15g.101646731A>TCA393978936TM2D3c.496T>A (p.Cys166Ser)
c.418T>A (p.Cys140Ser)
c.327T>A
c.797T>A
n.517T>A
c.*864T>A (n.*864T>A)
n.438T>A
c.301T>A (p.Cys101Ser)
15g.101646732G>ACA492691465TM2D3c.495C>T (p.His165=)
c.417C>T (p.His139=)
c.326C>T
c.796C>T
n.516C>T
c.*863C>T (n.*863C>T)
n.437C>T
c.300C>T (p.His100=)
dbSNP
15g.101646732G>CCA393978939TM2D3c.495C>G (p.His165Gln)
c.417C>G (p.His139Gln)
c.326C>G
c.796C>G
n.516C>G
c.*863C>G (n.*863C>G)
n.437C>G
c.300C>G (p.His100Gln)
gnomAD v4
15g.101646732G=CA2200628464TM2D3c.495C= (p.His165=)
c.417C= (p.His139=)
c.326C=
c.796C=
n.516C=
c.*863C= (n.*863C=)
n.437C=
c.300C= (p.His100=)
15g.101646732G>TCA393978938TM2D3c.495C>A (p.His165Gln)
c.417C>A (p.His139Gln)
c.326C>A
c.796C>A
n.516C>A
c.*863C>A (n.*863C>A)
n.437C>A
c.300C>A (p.His100Gln)
15g.101646733T>ACA393978941TM2D3c.494A>T (p.His165Leu)
c.416A>T (p.His139Leu)
c.325A>T
c.795A>T
n.515A>T
c.*862A>T (n.*862A>T)
n.436A>T
c.299A>T (p.His100Leu)
15g.101646733T>CCA393978943TM2D3c.494A>G (p.His165Arg)
c.416A>G (p.His139Arg)
c.325A>G
c.795A>G
n.515A>G
c.*862A>G (n.*862A>G)
n.436A>G
c.299A>G (p.His100Arg)
gnomAD v4
15g.101646733T>GCA393978945TM2D3c.494A>C (p.His165Pro)
c.416A>C (p.His139Pro)
c.325A>C
c.795A>C
n.515A>C
c.*862A>C (n.*862A>C)
n.436A>C
c.299A>C (p.His100Pro)
15g.101646734G>ACA393978946TM2D3c.493C>T (p.His165Tyr)
c.415C>T (p.His139Tyr)
c.324C>T
c.794C>T
n.514C>T
c.*861C>T (n.*861C>T)
n.435C>T
c.298C>T (p.His100Tyr)
gnomAD v4
15g.101646734G>CCA393978948TM2D3c.493C>G (p.His165Asp)
c.415C>G (p.His139Asp)
c.324C>G
c.794C>G
n.514C>G
c.*861C>G (n.*861C>G)
n.435C>G
c.298C>G (p.His100Asp)
15g.101646734G>TCA393978950TM2D3c.493C>A (p.His165Asn)
c.415C>A (p.His139Asn)
c.324C>A
c.794C>A
n.514C>A
c.*861C>A (n.*861C>A)
n.435C>A
c.298C>A (p.His100Asn)
15g.101646735G>ACA492691466TM2D3c.492C>T (p.Val164=)
c.414C>T (p.Val138=)
c.323C>T
c.793C>T
n.513C>T
c.*860C>T (n.*860C>T)
n.434C>T
c.297C>T (p.Val99=)
gnomAD v4
15g.101646735G>CCA492691467TM2D3c.492C>G (p.Val164=)
c.414C>G (p.Val138=)
c.323C>G
c.793C>G
n.513C>G
c.*860C>G (n.*860C>G)
n.434C>G
c.297C>G (p.Val99=)
15g.101646735G>TCA492691468TM2D3c.492C>A (p.Val164=)
c.414C>A (p.Val138=)
c.323C>A
c.793C>A
n.513C>A
c.*860C>A (n.*860C>A)
n.434C>A
c.297C>A (p.Val99=)
15g.101646736A>CCA393978952TM2D3c.491T>G (p.Val164Gly)
c.413T>G (p.Val138Gly)
c.322T>G
c.792T>G
n.512T>G
c.*859T>G (n.*859T>G)
n.433T>G
c.296T>G (p.Val99Gly)
15g.101646736A>GCA393978953TM2D3c.491T>C (p.Val164Ala)
c.413T>C (p.Val138Ala)
c.322T>C
c.792T>C
n.512T>C
c.*859T>C (n.*859T>C)
n.433T>C
c.296T>C (p.Val99Ala)
15g.101646736A>TCA393978954TM2D3c.491T>A (p.Val164Asp)
c.413T>A (p.Val138Asp)
c.322T>A
c.792T>A
n.512T>A
c.*859T>A (n.*859T>A)
n.433T>A
c.296T>A (p.Val99Asp)
15g.101646737C>ACA393978956TM2D3c.490G>T (p.Val164Phe)
c.412G>T (p.Val138Phe)
c.321G>T
c.791G>T
n.511G>T
c.*858G>T (n.*858G>T)
n.432G>T
c.295G>T (p.Val99Phe)
gnomAD v4
15g.101646737C=CA2200628465TM2D3c.490G= (p.Val164=)
c.412G= (p.Val138=)
c.321G=
c.791G=
n.511G=
c.*858G= (n.*858G=)
n.432G=
c.295G= (p.Val99=)
15g.101646737C>GCA393978958TM2D3c.490G>C (p.Val164Leu)
c.412G>C (p.Val138Leu)
c.321G>C
c.791G>C
n.511G>C
c.*858G>C (n.*858G>C)
n.432G>C
c.295G>C (p.Val99Leu)
15g.101646737C>TCA393978959TM2D3c.490G>A (p.Val164Ile)
c.412G>A (p.Val138Ile)
c.321G>A
c.791G>A
n.511G>A
c.*858G>A (n.*858G>A)
n.432G>A
c.295G>A (p.Val99Ile)
dbSNP gnomAD v4
15g.101646738G>ACA276362927TM2D3c.489C>T (p.His163=)
c.411C>T (p.His137=)
c.320C>T
c.790C>T
n.510C>T
c.*857C>T (n.*857C>T)
n.431C>T
c.294C>T (p.His98=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.101646738G>CCA393978963TM2D3c.489C>G (p.His163Gln)
c.411C>G (p.His137Gln)
c.320C>G
c.790C>G
n.510C>G
c.*857C>G (n.*857C>G)
n.431C>G
c.294C>G (p.His98Gln)
15g.101646738G=CA2200628466TM2D3c.489C= (p.His163=)
c.411C= (p.His137=)
c.320C=
c.790C=
n.510C=
c.*857C= (n.*857C=)
n.431C=
c.294C= (p.His98=)
15g.101646738G>TCA393978961TM2D3c.489C>A (p.His163Gln)
c.411C>A (p.His137Gln)
c.320C>A
c.790C>A
n.510C>A
c.*857C>A (n.*857C>A)
n.431C>A
c.294C>A (p.His98Gln)
15g.101646739T>ACA393978965TM2D3c.488A>T (p.His163Leu)
c.410A>T (p.His137Leu)
c.319A>T
c.789A>T
n.509A>T
c.*856A>T (n.*856A>T)
n.430A>T
c.293A>T (p.His98Leu)
15g.101646739T>CCA393978969TM2D3c.488A>G (p.His163Arg)
c.410A>G (p.His137Arg)
c.319A>G
c.789A>G
n.509A>G
c.*856A>G (n.*856A>G)
n.430A>G
c.293A>G (p.His98Arg)
dbSNP gnomAD v2 gnomAD v4
15g.101646739T>GCA393978967TM2D3c.488A>C (p.His163Pro)
c.410A>C (p.His137Pro)
c.319A>C
c.789A>C
n.509A>C
c.*856A>C (n.*856A>C)
n.430A>C
c.293A>C (p.His98Pro)
15g.101646739T=CA2200628468TM2D3c.488A= (p.His163=)
c.410A= (p.His137=)
c.319A=
c.789A=
n.509A=
c.*856A= (n.*856A=)
n.430A=
c.293A= (p.His98=)
15g.101646739_101646750delinsTGGTCCCGCACCCA2200628467TM2D3c.477_488delinsGGTGCGGGACCA (p.Thr159=)
c.399_410delinsGGTGCGGGACCA (p.Thr133=)
c.308_319delinsGGTGCGGGACCA
c.778_789delinsGGTGCGGGACCA
n.498_509delinsGGTGCGGGACCA
c.*845_*856delinsGGTGCGGGACCA (n.*845_*856delinsGGTGCGGGACCA)
n.419_430delinsGGTGCGGGACCA
c.282_293delinsGGTGCGGGACCA (p.Thr94=)
15g.101646740G>ACA7764583TM2D3c.487C>T (p.His163Tyr)
c.409C>T (p.His137Tyr)
c.318C>T
c.788C>T
n.508C>T
c.*855C>T (n.*855C>T)
n.429C>T
c.292C>T (p.His98Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.101646740G>CCA393978971TM2D3c.487C>G (p.His163Asp)
c.409C>G (p.His137Asp)
c.318C>G
c.788C>G
n.508C>G
c.*855C>G (n.*855C>G)
n.429C>G
c.292C>G (p.His98Asp)
15g.101646740G=CA2200628469TM2D3c.487C= (p.His163=)
c.409C= (p.His137=)
c.318C=
c.788C=
n.508C=
c.*855C= (n.*855C=)
n.429C=
c.292C= (p.His98=)
15g.101646740G>TCA393978973TM2D3c.487C>A (p.His163Asn)
c.409C>A (p.His137Asn)
c.318C>A
c.788C>A
n.508C>A
c.*855C>A (n.*855C>A)
n.429C>A
c.292C>A (p.His98Asn)
15g.101646741_101646751delCA7764582TM2D3c.477_487del (p.Val160ArgfsTer6)
c.399_409del (p.Val134ArgfsTer6)
c.308_318del
c.778_788del
n.498_508del
c.*845_*855del (n.*845_*855del)
n.419_429del
c.282_292del (p.Val95ArgfsTer6)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.101646741G>ACA7764584TM2D3c.486C>T (p.Asp162=)
c.408C>T (p.Asp136=)
c.317C>T
c.787C>T
n.507C>T
c.*854C>T (n.*854C>T)
n.428C>T
c.291C>T (p.Asp97=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.101646741G>CCA393978976TM2D3c.486C>G (p.Asp162Glu)
c.408C>G (p.Asp136Glu)
c.317C>G
c.787C>G
n.507C>G
c.*854C>G (n.*854C>G)
n.428C>G
c.291C>G (p.Asp97Glu)
15g.101646741G=CA2200628470TM2D3c.486C= (p.Asp162=)
c.408C= (p.Asp136=)
c.317C=
c.787C=
n.507C=
c.*854C= (n.*854C=)
n.428C=
c.291C= (p.Asp97=)
15g.101646741G>TCA393978977TM2D3c.486C>A (p.Asp162Glu)
c.408C>A (p.Asp136Glu)
c.317C>A
c.787C>A
n.507C>A
c.*854C>A (n.*854C>A)
n.428C>A
c.291C>A (p.Asp97Glu)
15g.101646742T>ACA393978979TM2D3c.485A>T (p.Asp162Val)
c.407A>T (p.Asp136Val)
c.316A>T
c.786A>T
n.506A>T
c.*853A>T (n.*853A>T)
n.427A>T
c.290A>T (p.Asp97Val)
dbSNP gnomAD v3 gnomAD v4
15g.101646742T>CCA393978981TM2D3c.485A>G (p.Asp162Gly)
c.407A>G (p.Asp136Gly)
c.316A>G
c.786A>G
n.506A>G
c.*853A>G (n.*853A>G)
n.427A>G
c.290A>G (p.Asp97Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.101646742T>GCA393978983TM2D3c.485A>C (p.Asp162Ala)
c.407A>C (p.Asp136Ala)
c.316A>C
c.786A>C
n.506A>C
c.*853A>C (n.*853A>C)
n.427A>C
c.290A>C (p.Asp97Ala)
15g.101646742T=CA2200628471TM2D3c.485A= (p.Asp162=)
c.407A= (p.Asp136=)
c.316A=
c.786A=
n.506A=
c.*853A= (n.*853A=)
n.427A=
c.290A= (p.Asp97=)
15g.101646743C>ACA393978984TM2D3c.484G>T (p.Asp162Tyr)
c.406G>T (p.Asp136Tyr)
c.315G>T
c.785G>T
n.505G>T
c.*852G>T (n.*852G>T)
n.426G>T
c.289G>T (p.Asp97Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.101646743C=CA2200628472TM2D3c.484G= (p.Asp162=)
c.406G= (p.Asp136=)
c.315G=
c.785G=
n.505G=
c.*852G= (n.*852G=)
n.426G=
c.289G= (p.Asp97=)
15g.101646743C>GCA393978986TM2D3c.484G>C (p.Asp162His)
c.406G>C (p.Asp136His)
c.315G>C
c.785G>C
n.505G>C
c.*852G>C (n.*852G>C)
n.426G>C
c.289G>C (p.Asp97His)
15g.101646743C>TCA393978988TM2D3c.484G>A (p.Asp162Asn)
c.406G>A (p.Asp136Asn)
c.315G>A
c.785G>A
n.505G>A
c.*852G>A (n.*852G>A)
n.426G>A
c.289G>A (p.Asp97Asn)
dbSNP gnomAD v2 gnomAD v4
15g.101646744C>ACA492691469TM2D3c.483G>T (p.Arg161=)
c.405G>T (p.Arg135=)
c.314G>T
c.784G>T
n.504G>T
c.*851G>T (n.*851G>T)
n.425G>T
c.288G>T (p.Arg96=)
15g.101646744C=CA2200628473TM2D3c.483G= (p.Arg161=)
c.405G= (p.Arg135=)
c.314G=
c.784G=
n.504G=
c.*851G= (n.*851G=)
n.425G=
c.288G= (p.Arg96=)
15g.101646744C>GCA492691471TM2D3c.483G>C (p.Arg161=)
c.405G>C (p.Arg135=)
c.314G>C
c.784G>C
n.504G>C
c.*851G>C (n.*851G>C)
n.425G>C
c.288G>C (p.Arg96=)
15g.101646744C>TCA492691470TM2D3c.483G>A (p.Arg161=)
c.405G>A (p.Arg135=)
c.314G>A
c.784G>A
n.504G>A
c.*851G>A (n.*851G>A)
n.425G>A
c.288G>A (p.Arg96=)
dbSNP gnomAD v2 gnomAD v4
15g.101646745C>ACA393978989TM2D3c.482G>T (p.Arg161Leu)
c.404G>T (p.Arg135Leu)
c.313G>T
c.783G>T
n.503G>T
c.*850G>T (n.*850G>T)
n.424G>T
c.287G>T (p.Arg96Leu)
15g.101646745C=CA2200628474TM2D3c.482G= (p.Arg161=)
c.404G= (p.Arg135=)
c.313G=
c.783G=
n.503G=
c.*850G= (n.*850G=)
n.424G=
c.287G= (p.Arg96=)
15g.101646745C>GCA393978992TM2D3c.482G>C (p.Arg161Pro)
c.404G>C (p.Arg135Pro)
c.313G>C
c.783G>C
n.503G>C
c.*850G>C (n.*850G>C)
n.424G>C
c.287G>C (p.Arg96Pro)
15g.101646745C>TCA7764585TM2D3c.482G>A (p.Arg161Gln)
c.404G>A (p.Arg135Gln)
c.313G>A
c.783G>A
n.503G>A
c.*850G>A (n.*850G>A)
n.424G>A
c.287G>A (p.Arg96Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.101646746G>ACA7764586TM2D3c.481C>T (p.Arg161Trp)
c.403C>T (p.Arg135Trp)
c.312C>T
c.782C>T
n.502C>T
c.*849C>T (n.*849C>T)
n.423C>T
c.286C>T (p.Arg96Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.101646746G>CCA393978994TM2D3c.481C>G (p.Arg161Gly)
c.403C>G (p.Arg135Gly)
c.312C>G
c.782C>G
n.502C>G
c.*849C>G (n.*849C>G)
n.423C>G
c.286C>G (p.Arg96Gly)
15g.101646746G=CA2200628475TM2D3c.481C= (p.Arg161=)
c.403C= (p.Arg135=)
c.312C=
c.782C=
n.502C=
c.*849C= (n.*849C=)
n.423C=
c.286C= (p.Arg96=)
15g.101646746G>TCA492691472TM2D3c.481C>A (p.Arg161=)
c.403C>A (p.Arg135=)
c.312C>A
c.782C>A
n.502C>A
c.*849C>A (n.*849C>A)
n.423C>A
c.286C>A (p.Arg96=)
15g.101646747C>ACA492691473TM2D3c.480G>T (p.Val160=)
c.402G>T (p.Val134=)
c.311G>T
c.781G>T
n.501G>T
c.*848G>T (n.*848G>T)
n.422G>T
c.285G>T (p.Val95=)
15g.101646747C=CA2200628476TM2D3c.480G= (p.Val160=)
c.402G= (p.Val134=)
c.311G=
c.781G=
n.501G=
c.*848G= (n.*848G=)
n.422G=
c.285G= (p.Val95=)
15g.101646747C>GCA492691474TM2D3c.480G>C (p.Val160=)
c.402G>C (p.Val134=)
c.311G>C
c.781G>C
n.501G>C
c.*848G>C (n.*848G>C)
n.422G>C
c.285G>C (p.Val95=)
dbSNP
15g.101646747C>TCA492691475TM2D3c.480G>A (p.Val160=)
c.402G>A (p.Val134=)
c.311G>A
c.781G>A
n.501G>A
c.*848G>A (n.*848G>A)
n.422G>A
c.285G>A (p.Val95=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.101646748A>CCA393978995TM2D3c.479T>G (p.Val160Gly)
c.401T>G (p.Val134Gly)
c.310T>G
c.780T>G
n.500T>G
c.*847T>G (n.*847T>G)
n.421T>G
c.284T>G (p.Val95Gly)
gnomAD v4
15g.101646748A>GCA393978997TM2D3c.479T>C (p.Val160Ala)
c.401T>C (p.Val134Ala)
c.310T>C
c.780T>C
n.500T>C
c.*847T>C (n.*847T>C)
n.421T>C
c.284T>C (p.Val95Ala)
15g.101646748A>TCA393978999TM2D3c.479T>A (p.Val160Glu)
c.401T>A (p.Val134Glu)
c.310T>A
c.780T>A
n.500T>A
c.*847T>A (n.*847T>A)
n.421T>A
c.284T>A (p.Val95Glu)
15g.101646749C>ACA393979000TM2D3c.478G>T (p.Val160Leu)
c.400G>T (p.Val134Leu)
c.309G>T
c.779G>T
n.499G>T
c.*846G>T (n.*846G>T)
n.420G>T
c.283G>T (p.Val95Leu)
15g.101646749C>GCA393979001TM2D3c.478G>C (p.Val160Leu)
c.400G>C (p.Val134Leu)
c.309G>C
c.779G>C
n.499G>C
c.*846G>C (n.*846G>C)
n.420G>C
c.283G>C (p.Val95Leu)
15g.101646749C>TCA393979002TM2D3c.478G>A (p.Val160Met)
c.400G>A (p.Val134Met)
c.309G>A
c.779G>A
n.499G>A
c.*846G>A (n.*846G>A)
n.420G>A
c.283G>A (p.Val95Met)
gnomAD v4
15g.101646750C>ACA492691476TM2D3c.477G>T (p.Thr159=)
c.399G>T (p.Thr133=)
c.308G>T
c.778G>T
n.498G>T
c.*845G>T (n.*845G>T)
n.419G>T
c.282G>T (p.Thr94=)
15g.101646750C=CA2200628477TM2D3c.477G= (p.Thr159=)
c.399G= (p.Thr133=)
c.308G=
c.778G=
n.498G=
c.*845G= (n.*845G=)
n.419G=
c.282G= (p.Thr94=)
15g.101646750C>GCA492691477TM2D3c.477G>C (p.Thr159=)
c.399G>C (p.Thr133=)
c.308G>C
c.778G>C
n.498G>C
c.*845G>C (n.*845G>C)
n.419G>C
c.282G>C (p.Thr94=)
15g.101646750C>TCA7764587TM2D3c.477G>A (p.Thr159=)
c.399G>A (p.Thr133=)
c.308G>A
c.778G>A
n.498G>A
c.*845G>A (n.*845G>A)
n.419G>A
c.282G>A (p.Thr94=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.101646751G>ACA7764588TM2D3c.476C>T (p.Thr159Met)
c.398C>T (p.Thr133Met)
c.307C>T
c.777C>T
n.497C>T
c.*844C>T (n.*844C>T)
n.418C>T
c.281C>T (p.Thr94Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.101646751G>CCA393979006TM2D3c.476C>G (p.Thr159Arg)
c.398C>G (p.Thr133Arg)
c.307C>G
c.777C>G
n.497C>G
c.*844C>G (n.*844C>G)
n.418C>G
c.281C>G (p.Thr94Arg)
15g.101646751G=CA2200628478TM2D3c.476C= (p.Thr159=)
c.398C= (p.Thr133=)
c.307C=
c.777C=
n.497C=
c.*844C= (n.*844C=)
n.418C=
c.281C= (p.Thr94=)
15g.101646751G>TCA393979005TM2D3c.476C>A (p.Thr159Lys)
c.398C>A (p.Thr133Lys)
c.307C>A
c.777C>A
n.497C>A
c.*844C>A (n.*844C>A)
n.418C>A
c.281C>A (p.Thr94Lys)
15g.101646752T>ACA393979009TM2D3c.475A>T (p.Thr159Ser)
c.397A>T (p.Thr133Ser)
c.306A>T
c.776A>T
n.496A>T
c.*843A>T (n.*843A>T)
n.417A>T
c.280A>T (p.Thr94Ser)
gnomAD v4
15g.101646752T>CCA393979011TM2D3c.475A>G (p.Thr159Ala)
c.397A>G (p.Thr133Ala)
c.306A>G
c.776A>G
n.496A>G
c.*843A>G (n.*843A>G)
n.417A>G
c.280A>G (p.Thr94Ala)
dbSNP gnomAD v3 gnomAD v4
15g.101646752T>GCA393979012TM2D3c.475A>C (p.Thr159Pro)
c.397A>C (p.Thr133Pro)
c.306A>C
c.776A>C
n.496A>C
c.*843A>C (n.*843A>C)
n.417A>C
c.280A>C (p.Thr94Pro)
15g.101646752T=CA2200628479TM2D3c.475A= (p.Thr159=)
c.397A= (p.Thr133=)
c.306A=
c.776A=
n.496A=
c.*843A= (n.*843A=)
n.417A=
c.280A= (p.Thr94=)
15g.101646753G>ACA492691478TM2D3c.474C>T (p.Cys158=)
c.396C>T (p.Cys132=)
c.305C>T
c.775C>T
n.495C>T
c.*842C>T (n.*842C>T)
n.416C>T
c.279C>T (p.Cys93=)
dbSNP
15g.101646753G>CCA393979014TM2D3c.474C>G (p.Cys158Trp)
c.396C>G (p.Cys132Trp)
c.305C>G
c.775C>G
n.495C>G
c.*842C>G (n.*842C>G)
n.416C>G
c.279C>G (p.Cys93Trp)
15g.101646753G=CA2200628480TM2D3c.474C= (p.Cys158=)
c.396C= (p.Cys132=)
c.305C=
c.775C=
n.495C=
c.*842C= (n.*842C=)
n.416C=
c.279C= (p.Cys93=)
15g.101646753G>TCA276362975TM2D3c.474C>A (p.Cys158Ter)
c.396C>A (p.Cys132Ter)
c.305C>A
c.775C>A
n.495C>A
c.*842C>A (n.*842C>A)
n.416C>A
c.279C>A (p.Cys93Ter)
dbSNP
15g.101646754C>ACA393979017TM2D3c.473G>T (p.Cys158Phe)
c.395G>T (p.Cys132Phe)
c.304G>T
c.774G>T
n.494G>T
c.*841G>T (n.*841G>T)
n.415G>T
c.278G>T (p.Cys93Phe)
gnomAD v4
15g.101646754C>GCA393979019TM2D3c.473G>C (p.Cys158Ser)
c.395G>C (p.Cys132Ser)
c.304G>C
c.774G>C
n.494G>C
c.*841G>C (n.*841G>C)
n.415G>C
c.278G>C (p.Cys93Ser)
15g.101646754C>TCA393979020TM2D3c.473G>A (p.Cys158Tyr)
c.395G>A (p.Cys132Tyr)
c.304G>A
c.774G>A
n.494G>A
c.*841G>A (n.*841G>A)
n.415G>A
c.278G>A (p.Cys93Tyr)
15g.101646755A>CCA393979022TM2D3c.472T>G (p.Cys158Gly)
c.394T>G (p.Cys132Gly)
c.303T>G
c.773T>G
n.493T>G
c.*840T>G (n.*840T>G)
n.414T>G
c.277T>G (p.Cys93Gly)
15g.101646755A>GCA393979024TM2D3c.472T>C (p.Cys158Arg)
c.394T>C (p.Cys132Arg)
c.303T>C
c.773T>C
n.493T>C
c.*840T>C (n.*840T>C)
n.414T>C
c.277T>C (p.Cys93Arg)
gnomAD v4
15g.101646755A>TCA393979026TM2D3c.472T>A (p.Cys158Ser)
c.394T>A (p.Cys132Ser)
c.303T>A
c.773T>A
n.493T>A
c.*840T>A (n.*840T>A)
n.414T>A
c.277T>A (p.Cys93Ser)
15g.101646755dupCA2630689650TM2D3c.472dup (p.Cys158LeufsTer12)
c.394dup (p.Cys132LeufsTer12)
c.303dup
c.773dup
n.493dup
c.*840dup (n.*840dup)
n.414dup
c.277dup (p.Cys93LeufsTer12)
gnomAD v4
15g.101646756G>ACA492691479TM2D3c.471C>T (p.Asn157=)
c.393C>T (p.Asn131=)
c.302C>T
c.772C>T
n.492C>T
c.*839C>T (n.*839C>T)
n.413C>T
c.276C>T (p.Asn92=)
gnomAD v4
15g.101646756G>CCA393979028TM2D3c.471C>G (p.Asn157Lys)
c.393C>G (p.Asn131Lys)
c.302C>G
c.772C>G
n.492C>G
c.*839C>G (n.*839C>G)
n.413C>G
c.276C>G (p.Asn92Lys)
15g.101646756G>TCA393979030TM2D3c.471C>A (p.Asn157Lys)
c.393C>A (p.Asn131Lys)
c.302C>A
c.772C>A
n.492C>A
c.*839C>A (n.*839C>A)
n.413C>A
c.276C>A (p.Asn92Lys)
15g.101646757T>ACA393979033TM2D3c.470A>T (p.Asn157Ile)
c.392A>T (p.Asn131Ile)
c.301A>T
c.771A>T
n.491A>T
c.*838A>T (n.*838A>T)
n.412A>T
c.275A>T (p.Asn92Ile)
15g.101646757T>CCA393979031TM2D3c.470A>G (p.Asn157Ser)
c.392A>G (p.Asn131Ser)
c.301A>G
c.771A>G
n.491A>G
c.*838A>G (n.*838A>G)
n.412A>G
c.275A>G (p.Asn92Ser)
gnomAD v4
15g.101646757T>GCA393979032TM2D3c.470A>C (p.Asn157Thr)
c.392A>C (p.Asn131Thr)
c.301A>C
c.771A>C
n.491A>C
c.*838A>C (n.*838A>C)
n.412A>C
c.275A>C (p.Asn92Thr)
dbSNP gnomAD v4
15g.101646757T=CA2200628481TM2D3c.470A= (p.Asn157=)
c.392A= (p.Asn131=)
c.301A=
c.771A=
n.491A=
c.*838A= (n.*838A=)
n.412A=
c.275A= (p.Asn92=)
15g.101646758T>ACA393979035TM2D3c.469A>T (p.Asn157Tyr)
c.391A>T (p.Asn131Tyr)
c.300A>T
c.770A>T
n.490A>T
c.*837A>T (n.*837A>T)
n.411A>T
c.274A>T (p.Asn92Tyr)
15g.101646758T>CCA393979037TM2D3c.469A>G (p.Asn157Asp)
c.391A>G (p.Asn131Asp)
c.300A>G
c.770A>G
n.490A>G
c.*837A>G (n.*837A>G)
n.411A>G
c.274A>G (p.Asn92Asp)
15g.101646758T>GCA393979038TM2D3c.469A>C (p.Asn157His)
c.391A>C (p.Asn131His)
c.300A>C
c.770A>C
n.490A>C
c.*837A>C (n.*837A>C)
n.411A>C
c.274A>C (p.Asn92His)
15g.101646759G>ACA492691480TM2D3c.468C>T (p.Ala156=)
c.390C>T (p.Ala130=)
c.299C>T
c.769C>T
n.489C>T
c.*836C>T (n.*836C>T)
n.410C>T
c.273C>T (p.Ala91=)
15g.101646759G>CCA492691481TM2D3c.468C>G (p.Ala156=)
c.390C>G (p.Ala130=)
c.299C>G
c.769C>G
n.489C>G
c.*836C>G (n.*836C>G)
n.410C>G
c.273C>G (p.Ala91=)
gnomAD v4
15g.101646759G=CA2200628482TM2D3c.468C= (p.Ala156=)
c.390C= (p.Ala130=)
c.299C=
c.769C=
n.489C=
c.*836C= (n.*836C=)
n.410C=
c.273C= (p.Ala91=)
15g.101646759G>TCA276362977TM2D3c.468C>A (p.Ala156=)
c.390C>A (p.Ala130=)
c.299C>A
c.769C>A
n.489C>A
c.*836C>A (n.*836C>A)
n.410C>A
c.273C>A (p.Ala91=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.101646760G>ACA393979039TM2D3c.467C>T (p.Ala156Val)
c.389C>T (p.Ala130Val)
c.298C>T
c.768C>T
n.488C>T
c.*835C>T (n.*835C>T)
n.409C>T
c.272C>T (p.Ala91Val)
15g.101646760G>CCA393979041TM2D3c.467C>G (p.Ala156Gly)
c.389C>G (p.Ala130Gly)
c.298C>G
c.768C>G
n.488C>G
c.*835C>G (n.*835C>G)
n.409C>G
c.272C>G (p.Ala91Gly)
15g.101646760G>TCA393979043TM2D3c.467C>A (p.Ala156Asp)
c.389C>A (p.Ala130Asp)
c.298C>A
c.768C>A
n.488C>A
c.*835C>A (n.*835C>A)
n.409C>A
c.272C>A (p.Ala91Asp)
15g.101646761C>ACA393979045TM2D3c.466G>T (p.Ala156Ser)
c.388G>T (p.Ala130Ser)
c.297G>T
c.767G>T
n.487G>T
c.*834G>T (n.*834G>T)
n.408G>T
c.271G>T (p.Ala91Ser)
15g.101646761C>GCA393979046TM2D3c.466G>C (p.Ala156Pro)
c.388G>C (p.Ala130Pro)
c.297G>C
c.767G>C
n.487G>C
c.*834G>C (n.*834G>C)
n.408G>C
c.271G>C (p.Ala91Pro)
15g.101646761C>TCA393979048TM2D3c.466G>A (p.Ala156Thr)
c.388G>A (p.Ala130Thr)
c.297G>A
c.767G>A
n.487G>A
c.*834G>A (n.*834G>A)
n.408G>A
c.271G>A (p.Ala91Thr)
15g.101646762A=CA2200628483TM2D3c.465T= (p.Pro155=)
c.387T= (p.Pro129=)
c.296T=
c.766T=
n.486T=
c.*833T= (n.*833T=)
n.407T=
c.270T= (p.Pro90=)
15g.101646762A>CCA492691482TM2D3c.465T>G (p.Pro155=)
c.387T>G (p.Pro129=)
c.296T>G
c.766T>G
n.486T>G
c.*833T>G (n.*833T>G)
n.407T>G
c.270T>G (p.Pro90=)
dbSNP
15g.101646762A>GCA492691483TM2D3c.465T>C (p.Pro155=)
c.387T>C (p.Pro129=)
c.296T>C
c.766T>C
n.486T>C
c.*833T>C (n.*833T>C)
n.407T>C
c.270T>C (p.Pro90=)
15g.101646762A>TCA492691484TM2D3c.465T>A (p.Pro155=)
c.387T>A (p.Pro129=)
c.296T>A
c.766T>A
n.486T>A
c.*833T>A (n.*833T>A)
n.407T>A
c.270T>A (p.Pro90=)
15g.101646763G>ACA7764589TM2D3c.464C>T (p.Pro155Leu)
c.386C>T (p.Pro129Leu)
c.295C>T
c.765C>T
n.485C>T
c.*832C>T (n.*832C>T)
n.406C>T
c.269C>T (p.Pro90Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.101646763G>CCA393979050TM2D3c.464C>G (p.Pro155Arg)
c.386C>G (p.Pro129Arg)
c.295C>G
c.765C>G
n.485C>G
c.*832C>G (n.*832C>G)
n.406C>G
c.269C>G (p.Pro90Arg)
15g.101646763G=CA2200628484TM2D3c.464C= (p.Pro155=)
c.386C= (p.Pro129=)
c.295C=
c.765C=
n.485C=
c.*832C= (n.*832C=)
n.406C=
c.269C= (p.Pro90=)
15g.101646763G>TCA393979052TM2D3c.464C>A (p.Pro155His)
c.386C>A (p.Pro129His)
c.295C>A
c.765C>A
n.485C>A
c.*832C>A (n.*832C>A)
n.406C>A
c.269C>A (p.Pro90His)
15g.101646765delCA2630689651TM2D3c.464del (p.Pro155LeufsTer?)
c.386del (p.Pro129LeufsTer?)
c.295del
c.765del
n.485del
c.*832del (n.*832del)
n.406del
c.269del (p.Pro90LeufsTer?)
gnomAD v4
15g.101646764G>ACA393979056TM2D3c.463C>T (p.Pro155Ser)
c.385C>T (p.Pro129Ser)
c.294C>T
c.764C>T
n.484C>T
c.*831C>T (n.*831C>T)
n.405C>T
c.268C>T (p.Pro90Ser)
15g.101646764G>CCA393979058TM2D3c.463C>G (p.Pro155Ala)
c.385C>G (p.Pro129Ala)
c.294C>G
c.764C>G
n.484C>G
c.*831C>G (n.*831C>G)
n.405C>G
c.268C>G (p.Pro90Ala)
15g.101646764G>TCA393979054TM2D3c.463C>A (p.Pro155Thr)
c.385C>A (p.Pro129Thr)
c.294C>A
c.764C>A
n.484C>A
c.*831C>A (n.*831C>A)
n.405C>A
c.268C>A (p.Pro90Thr)
15g.101646765G>ACA492691485TM2D3c.462C>T (p.Tyr154=)
c.384C>T (p.Tyr128=)
c.293C>T
c.763C>T
n.483C>T
c.*830C>T (n.*830C>T)
n.404C>T
c.267C>T (p.Tyr89=)
dbSNP gnomAD v3 gnomAD v4
15g.101646765G>CCA393979064TM2D3c.462C>G (p.Tyr154Ter)
c.384C>G (p.Tyr128Ter)
c.293C>G
c.763C>G
n.483C>G
c.*830C>G (n.*830C>G)
n.404C>G
c.267C>G (p.Tyr89Ter)
15g.101646765G=CA2200628485TM2D3c.462C= (p.Tyr154=)
c.384C= (p.Tyr128=)
c.293C=
c.763C=
n.483C=
c.*830C= (n.*830C=)
n.404C=
c.267C= (p.Tyr89=)
15g.101646765G>TCA393979061TM2D3c.462C>A (p.Tyr154Ter)
c.384C>A (p.Tyr128Ter)
c.293C>A
c.763C>A
n.483C>A
c.*830C>A (n.*830C>A)
n.404C>A
c.267C>A (p.Tyr89Ter)
15g.101646766T>ACA393979067TM2D3c.461A>T (p.Tyr154Phe)
c.383A>T (p.Tyr128Phe)
c.292A>T
c.762A>T
n.482A>T
c.*829A>T (n.*829A>T)
n.403A>T
c.266A>T (p.Tyr89Phe)
dbSNP gnomAD v2 gnomAD v4
15g.101646766T>CCA393979070TM2D3c.461A>G (p.Tyr154Cys)
c.383A>G (p.Tyr128Cys)
c.292A>G
c.762A>G
n.482A>G
c.*829A>G (n.*829A>G)
n.403A>G
c.266A>G (p.Tyr89Cys)
gnomAD v4
15g.101646766T>GCA393979072TM2D3c.461A>C (p.Tyr154Ser)
c.383A>C (p.Tyr128Ser)
c.292A>C
c.762A>C
n.482A>C
c.*829A>C (n.*829A>C)
n.403A>C
c.266A>C (p.Tyr89Ser)
gnomAD v4
15g.101646766T=CA2200628486TM2D3c.461A= (p.Tyr154=)
c.383A= (p.Tyr128=)
c.292A=
c.762A=
n.482A=
c.*829A= (n.*829A=)
n.403A=
c.266A= (p.Tyr89=)
15g.101646767A=CA2200628487TM2D3c.460T= (p.Tyr154=)
c.382T= (p.Tyr128=)
c.291T=
c.761T=
n.481T=
c.*828T= (n.*828T=)
n.402T=
c.265T= (p.Tyr89=)
15g.101646767A>CCA393979073TM2D3c.460T>G (p.Tyr154Asp)
c.382T>G (p.Tyr128Asp)
c.291T>G
c.761T>G
n.481T>G
c.*828T>G (n.*828T>G)
n.402T>G
c.265T>G (p.Tyr89Asp)
15g.101646767A>GCA393979076TM2D3c.460T>C (p.Tyr154His)
c.382T>C (p.Tyr128His)
c.291T>C
c.761T>C
n.481T>C
c.*828T>C (n.*828T>C)
n.402T>C
c.265T>C (p.Tyr89His)
dbSNP gnomAD v4
15g.101646767A>TCA393979079TM2D3c.460T>A (p.Tyr154Asn)
c.382T>A (p.Tyr128Asn)
c.291T>A
c.761T>A
n.481T>A
c.*828T>A (n.*828T>A)
n.402T>A
c.265T>A (p.Tyr89Asn)
15g.101646768G>ACA492691486TM2D3c.459C>T (p.Arg153=)
c.381C>T (p.Arg127=)
c.290C>T
c.760C>T
n.480C>T
c.*827C>T (n.*827C>T)
n.401C>T
c.264C>T (p.Arg88=)
15g.101646768G>CCA492691487TM2D3c.459C>G (p.Arg153=)
c.381C>G (p.Arg127=)
c.290C>G
c.760C>G
n.480C>G
c.*827C>G (n.*827C>G)
n.401C>G
c.264C>G (p.Arg88=)
15g.101646768G>TCA492691488TM2D3c.459C>A (p.Arg153=)
c.381C>A (p.Arg127=)
c.290C>A
c.760C>A
n.480C>A
c.*827C>A (n.*827C>A)
n.401C>A
c.264C>A (p.Arg88=)
15g.101646769C>ACA393979084TM2D3c.458G>T (p.Arg153Leu)
c.380G>T (p.Arg127Leu)
c.289G>T
c.759G>T
n.479G>T
c.*826G>T (n.*826G>T)
n.400G>T
c.263G>T (p.Arg88Leu)
15g.101646769C=CA2200628488TM2D3c.458G= (p.Arg153=)
c.380G= (p.Arg127=)
c.289G=
c.759G=
n.479G=
c.*826G= (n.*826G=)
n.400G=
c.263G= (p.Arg88=)
15g.101646769C>GCA393979082TM2D3c.458G>C (p.Arg153Pro)
c.380G>C (p.Arg127Pro)
c.289G>C
c.759G>C
n.479G>C
c.*826G>C (n.*826G>C)
n.400G>C
c.263G>C (p.Arg88Pro)
15g.101646769C>TCA7764590TM2D3c.458G>A (p.Arg153His)
c.380G>A (p.Arg127His)
c.289G>A
c.759G>A
n.479G>A
c.*826G>A (n.*826G>A)
n.400G>A
c.263G>A (p.Arg88His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.101646770G>ACA393979087TM2D3c.457C>T (p.Arg153Cys)
c.379C>T (p.Arg127Cys)
c.288C>T
c.758C>T
n.478C>T
c.*825C>T (n.*825C>T)
n.399C>T
c.262C>T (p.Arg88Cys)
dbSNP gnomAD v4
15g.101646770G>CCA393979090TM2D3c.457C>G (p.Arg153Gly)
c.379C>G (p.Arg127Gly)
c.288C>G
c.758C>G
n.478C>G
c.*825C>G (n.*825C>G)
n.399C>G
c.262C>G (p.Arg88Gly)
gnomAD v4
15g.101646770G=CA2200628489TM2D3c.457C= (p.Arg153=)
c.379C= (p.Arg127=)
c.288C=
c.758C=
n.478C=
c.*825C= (n.*825C=)
n.399C=
c.262C= (p.Arg88=)
15g.101646770G>TCA393979092TM2D3c.457C>A (p.Arg153Ser)
c.379C>A (p.Arg127Ser)
c.288C>A
c.758C>A
n.478C>A
c.*825C>A (n.*825C>A)
n.399C>A
c.262C>A (p.Arg88Ser)
15g.101646771C>ACA393979093TM2D3c.456G>T (p.Gln152His)
c.378G>T (p.Gln126His)
c.287G>T
c.757G>T
n.477G>T
c.*824G>T (n.*824G>T)
n.398G>T
c.261G>T (p.Gln87His)
15g.101646771C>GCA393979094TM2D3c.456G>C (p.Gln152His)
c.378G>C (p.Gln126His)
c.287G>C
c.757G>C
n.477G>C
c.*824G>C (n.*824G>C)
n.398G>C
c.261G>C (p.Gln87His)
gnomAD v4
15g.101646771C>TCA492691493TM2D3c.456G>A (p.Gln152=)
c.378G>A (p.Gln126=)
c.287G>A
c.757G>A
n.477G>A
c.*824G>A (n.*824G>A)
n.398G>A
c.261G>A (p.Gln87=)
15g.101646772T>ACA393979095TM2D3c.455A>T (p.Gln152Leu)
c.377A>T (p.Gln126Leu)
c.286A>T
c.756A>T
n.476A>T
c.*823A>T (n.*823A>T)
n.397A>T
c.260A>T (p.Gln87Leu)
15g.101646772T>CCA276363011TM2D3c.455A>G (p.Gln152Arg)
c.377A>G (p.Gln126Arg)
c.286A>G
c.756A>G
n.476A>G
c.*823A>G (n.*823A>G)
n.397A>G
c.260A>G (p.Gln87Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.101646772T>GCA393979096TM2D3c.455A>C (p.Gln152Pro)
c.377A>C (p.Gln126Pro)
c.286A>C
c.756A>C
n.476A>C
c.*823A>C (n.*823A>C)
n.397A>C
c.260A>C (p.Gln87Pro)
15g.101646772T=CA2200628490TM2D3c.455A= (p.Gln152=)
c.377A= (p.Gln126=)
c.286A=
c.756A=
n.476A=
c.*823A= (n.*823A=)
n.397A=
c.260A= (p.Gln87=)
15g.101646773G>ACA393979097TM2D3c.454C>T (p.Gln152Ter)
c.376C>T (p.Gln126Ter)
c.285C>T
c.755C>T
n.475C>T
c.*822C>T (n.*822C>T)
n.396C>T
c.259C>T (p.Gln87Ter)
15g.101646773G>CCA393979098TM2D3c.454C>G (p.Gln152Glu)
c.376C>G (p.Gln126Glu)
c.285C>G
c.755C>G
n.475C>G
c.*822C>G (n.*822C>G)
n.396C>G
c.259C>G (p.Gln87Glu)
15g.101646773G>TCA393979100TM2D3c.454C>A (p.Gln152Lys)
c.376C>A (p.Gln126Lys)
c.285C>A
c.755C>A
n.475C>A
c.*822C>A (n.*822C>A)
n.396C>A
c.259C>A (p.Gln87Lys)
15g.101646774C>ACA492691499TM2D3c.453G>T (p.Arg151=)
c.375G>T (p.Arg125=)
c.284G>T
c.754G>T
n.474G>T
c.*821G>T (n.*821G>T)
n.395G>T
c.258G>T (p.Arg86=)
15g.101646774C=CA2200628491TM2D3c.453G= (p.Arg151=)
c.375G= (p.Arg125=)
c.284G=
c.754G=
n.474G=
c.*821G= (n.*821G=)
n.395G=
c.258G= (p.Arg86=)
15g.101646774C>GCA492691497TM2D3c.453G>C (p.Arg151=)
c.375G>C (p.Arg125=)
c.284G>C
c.754G>C
n.474G>C
c.*821G>C (n.*821G>C)
n.395G>C
c.258G>C (p.Arg86=)
15g.101646774C>TCA276363017TM2D3c.453G>A (p.Arg151=)
c.375G>A (p.Arg125=)
c.284G>A
c.754G>A
n.474G>A
c.*821G>A (n.*821G>A)
n.395G>A
c.258G>A (p.Arg86=)
dbSNP gnomAD v3 gnomAD v4
15g.101646775C>ACA393979102TM2D3c.452G>T (p.Arg151Leu)
c.374G>T (p.Arg125Leu)
c.283G>T
c.753G>T
n.473G>T
c.*820G>T (n.*820G>T)
n.394G>T
c.257G>T (p.Arg86Leu)
15g.101646775C=CA2200628492TM2D3c.452G= (p.Arg151=)
c.374G= (p.Arg125=)
c.283G=
c.753G=
n.473G=
c.*820G= (n.*820G=)
n.394G=
c.257G= (p.Arg86=)
15g.101646775C>GCA393979104TM2D3c.452G>C (p.Arg151Pro)
c.374G>C (p.Arg125Pro)
c.283G>C
c.753G>C
n.473G>C
c.*820G>C (n.*820G>C)
n.394G>C
c.257G>C (p.Arg86Pro)
dbSNP gnomAD v2 gnomAD v4
15g.101646775C>TCA276363025TM2D3c.452G>A (p.Arg151Gln)
c.374G>A (p.Arg125Gln)
c.283G>A
c.753G>A
n.473G>A
c.*820G>A (n.*820G>A)
n.394G>A
c.257G>A (p.Arg86Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.101646776G>ACA7764591TM2D3c.451C>T (p.Arg151Trp)
c.373C>T (p.Arg125Trp)
c.282C>T
c.752C>T
n.472C>T
c.*819C>T (n.*819C>T)
n.393C>T
c.256C>T (p.Arg86Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.101646776G>CCA393979106TM2D3c.451C>G (p.Arg151Gly)
c.373C>G (p.Arg125Gly)
c.282C>G
c.752C>G
n.472C>G
c.*819C>G (n.*819C>G)
n.393C>G
c.256C>G (p.Arg86Gly)
15g.101646776G=CA2200628493TM2D3c.451C= (p.Arg151=)
c.373C= (p.Arg125=)
c.282C=
c.752C=
n.472C=
c.*819C= (n.*819C=)
n.393C=
c.256C= (p.Arg86=)
15g.101646776G>TCA492691504TM2D3c.451C>A (p.Arg151=)
c.373C>A (p.Arg125=)
c.282C>A
c.752C>A
n.472C>A
c.*819C>A (n.*819C>A)
n.393C>A
c.256C>A (p.Arg86=)
15g.101646777A>CCA492691505TM2D3c.450T>G (p.Pro150=)
c.372T>G (p.Pro124=)
c.281T>G
c.751T>G
n.471T>G
c.*818T>G (n.*818T>G)
n.392T>G
c.255T>G (p.Pro85=)
15g.101646777A>GCA492691506TM2D3c.450T>C (p.Pro150=)
c.372T>C (p.Pro124=)
c.281T>C
c.751T>C
n.471T>C
c.*818T>C (n.*818T>C)
n.392T>C
c.255T>C (p.Pro85=)
15g.101646777A>TCA492691508TM2D3c.450T>A (p.Pro150=)
c.372T>A (p.Pro124=)
c.281T>A
c.751T>A
n.471T>A
c.*818T>A (n.*818T>A)
n.392T>A
c.255T>A (p.Pro85=)
15g.101646778G>ACA7764592TM2D3c.449C>T (p.Pro150Leu)
c.371C>T (p.Pro124Leu)
c.280C>T
c.750C>T
n.470C>T
c.*817C>T (n.*817C>T)
n.391C>T
c.254C>T (p.Pro85Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.101646778G>CCA7764593TM2D3c.449C>G (p.Pro150Arg)
c.371C>G (p.Pro124Arg)
c.280C>G
c.750C>G
n.470C>G
c.*817C>G (n.*817C>G)
n.391C>G
c.254C>G (p.Pro85Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.101646778G=CA2200628494TM2D3c.449C= (p.Pro150=)
c.371C= (p.Pro124=)
c.280C=
c.750C=
n.470C=
c.*817C= (n.*817C=)
n.391C=
c.254C= (p.Pro85=)
15g.101646778G>TCA393979110TM2D3c.449C>A (p.Pro150His)
c.371C>A (p.Pro124His)
c.280C>A
c.750C>A
n.470C>A
c.*817C>A (n.*817C>A)
n.391C>A
c.254C>A (p.Pro85His)
15g.101646779G>ACA393979111TM2D3c.448C>T (p.Pro150Ser)
c.370C>T (p.Pro124Ser)
c.279C>T
c.749C>T
n.469C>T
c.*816C>T (n.*816C>T)
n.390C>T
c.253C>T (p.Pro85Ser)
15g.101646779G>CCA7764594TM2D3c.448C>G (p.Pro150Ala)
c.370C>G (p.Pro124Ala)
c.279C>G
c.749C>G
n.469C>G
c.*816C>G (n.*816C>G)
n.390C>G
c.253C>G (p.Pro85Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.101646779G=CA2200628495TM2D3c.448C= (p.Pro150=)
c.370C= (p.Pro124=)
c.279C=
c.749C=
n.469C=
c.*816C= (n.*816C=)
n.390C=
c.253C= (p.Pro85=)
15g.101646779G>TCA393979114TM2D3c.448C>A (p.Pro150Thr)
c.370C>A (p.Pro124Thr)
c.279C>A
c.749C>A
n.469C>A
c.*816C>A (n.*816C>A)
n.390C>A
c.253C>A (p.Pro85Thr)
15g.101646780A=CA2200628496TM2D3c.447T= (p.Cys149=)
c.369T= (p.Cys123=)
c.278T=
c.748T=
n.468T=
c.*815T= (n.*815T=)
n.389T=
c.252T= (p.Cys84=)
15g.101646780A>CCA393979117TM2D3c.447T>G (p.Cys149Trp)
c.369T>G (p.Cys123Trp)
c.278T>G
c.748T>G
n.468T>G
c.*815T>G (n.*815T>G)
n.389T>G
c.252T>G (p.Cys84Trp)
15g.101646780A>GCA492691515TM2D3c.447T>C (p.Cys149=)
c.369T>C (p.Cys123=)
c.278T>C
c.748T>C
n.468T>C
c.*815T>C (n.*815T>C)
n.389T>C
c.252T>C (p.Cys84=)
15g.101646780A>TCA276363074TM2D3c.447T>A (p.Cys149Ter)
c.369T>A (p.Cys123Ter)
c.278T>A
c.748T>A
n.468T>A
c.*815T>A (n.*815T>A)
n.389T>A
c.252T>A (p.Cys84Ter)
dbSNP gnomAD v3 gnomAD v4
15g.101646781C>ACA393979121TM2D3c.446G>T (p.Cys149Phe)
c.368G>T (p.Cys123Phe)
c.277G>T
c.747G>T
n.467G>T
c.*814G>T (n.*814G>T)
n.388G>T
c.251G>T (p.Cys84Phe)
15g.101646781C>GCA393979123TM2D3c.446G>C (p.Cys149Ser)
c.368G>C (p.Cys123Ser)
c.277G>C
c.747G>C
n.467G>C
c.*814G>C (n.*814G>C)
n.388G>C
c.251G>C (p.Cys84Ser)
15g.101646781C>TCA393979126TM2D3c.446G>A (p.Cys149Tyr)
c.368G>A (p.Cys123Tyr)
c.277G>A
c.747G>A
n.467G>A
c.*814G>A (n.*814G>A)
n.388G>A
c.251G>A (p.Cys84Tyr)
15g.101646782A=CA2200628497TM2D3c.445T= (p.Cys149=)
c.367T= (p.Cys123=)
c.276T=
c.746T=
n.466T=
c.*813T= (n.*813T=)
n.387T=
c.250T= (p.Cys84=)
15g.101646782A>CCA393979129TM2D3c.445T>G (p.Cys149Gly)
c.367T>G (p.Cys123Gly)
c.276T>G
c.746T>G
n.466T>G
c.*813T>G (n.*813T>G)
n.387T>G
c.250T>G (p.Cys84Gly)
15g.101646782A>GCA393979131TM2D3c.445T>C (p.Cys149Arg)
c.367T>C (p.Cys123Arg)
c.276T>C
c.746T>C
n.466T>C
c.*813T>C (n.*813T>C)
n.387T>C
c.250T>C (p.Cys84Arg)
dbSNP gnomAD v2 gnomAD v4
15g.101646782A>TCA393979134TM2D3c.445T>A (p.Cys149Ser)
c.367T>A (p.Cys123Ser)
c.276T>A
c.746T>A
n.466T>A
c.*813T>A (n.*813T>A)
n.387T>A
c.250T>A (p.Cys84Ser)
15g.101646783G>ACA492691519TM2D3c.444C>T (p.Ser148=)
c.366C>T (p.Ser122=)
c.275C>T
c.745C>T
n.465C>T
c.*812C>T (n.*812C>T)
n.386C>T
c.249C>T (p.Ser83=)
dbSNP COSMIC
15g.101646783G>CCA492691520TM2D3c.444C>G (p.Ser148=)
c.366C>G (p.Ser122=)
c.275C>G
c.745C>G
n.465C>G
c.*812C>G (n.*812C>G)
n.386C>G
c.249C>G (p.Ser83=)
15g.101646783G=CA2200628498TM2D3c.444C= (p.Ser148=)
c.366C= (p.Ser122=)
c.275C=
c.745C=
n.465C=
c.*812C= (n.*812C=)
n.386C=
c.249C= (p.Ser83=)
15g.101646783G>TCA492691521TM2D3c.444C>A (p.Ser148=)
c.366C>A (p.Ser122=)
c.275C>A
c.745C>A
n.465C>A
c.*812C>A (n.*812C>A)
n.386C>A
c.249C>A (p.Ser83=)
15g.101646784G>ACA393979137TM2D3c.443C>T (p.Ser148Phe)
c.365C>T (p.Ser122Phe)
c.274C>T
c.744C>T
n.464C>T
c.*811C>T (n.*811C>T)
n.385C>T
c.248C>T (p.Ser83Phe)
15g.101646784G>CCA393979139TM2D3c.443C>G (p.Ser148Cys)
c.365C>G (p.Ser122Cys)
c.274C>G
c.744C>G
n.464C>G
c.*811C>G (n.*811C>G)
n.385C>G
c.248C>G (p.Ser83Cys)
gnomAD v4
15g.101646784G>TCA393979140TM2D3c.443C>A (p.Ser148Tyr)
c.365C>A (p.Ser122Tyr)
c.274C>A
c.744C>A
n.464C>A
c.*811C>A (n.*811C>A)
n.385C>A
c.248C>A (p.Ser83Tyr)
15g.101646785A>CCA393979148TM2D3c.442T>G (p.Ser148Ala)
c.364T>G (p.Ser122Ala)
c.273T>G
c.743T>G
n.463T>G
c.*810T>G (n.*810T>G)
n.384T>G
c.247T>G (p.Ser83Ala)
15g.101646785A>GCA393979145TM2D3c.442T>C (p.Ser148Pro)
c.364T>C (p.Ser122Pro)
c.273T>C
c.743T>C
n.463T>C
c.*810T>C (n.*810T>C)
n.384T>C
c.247T>C (p.Ser83Pro)
15g.101646785A>TCA393979143TM2D3c.442T>A (p.Ser148Thr)
c.364T>A (p.Ser122Thr)
c.273T>A
c.743T>A
n.463T>A
c.*810T>A (n.*810T>A)
n.384T>A
c.247T>A (p.Ser83Thr)
15g.101646786C>ACA492691526TM2D3c.441G>T (p.Val147=)
c.363G>T (p.Val121=)
c.272G>T
c.742G>T
n.462G>T
c.*809G>T (n.*809G>T)
n.383G>T
c.246G>T (p.Val82=)
15g.101646786C=CA2200628499TM2D3c.441G= (p.Val147=)
c.363G= (p.Val121=)
c.272G=
c.742G=
n.462G=
c.*809G= (n.*809G=)
n.383G=
c.246G= (p.Val82=)
15g.101646786C>GCA492691528TM2D3c.441G>C (p.Val147=)
c.363G>C (p.Val121=)
c.272G>C
c.742G>C
n.462G>C
c.*809G>C (n.*809G>C)
n.383G>C
c.246G>C (p.Val82=)
15g.101646786C>TCA492691529TM2D3c.441G>A (p.Val147=)
c.363G>A (p.Val121=)
c.272G>A
c.742G>A
n.462G>A
c.*809G>A (n.*809G>A)
n.383G>A
c.246G>A (p.Val82=)
dbSNP gnomAD v2 gnomAD v4
15g.101646787A>CCA393979150TM2D3c.440T>G (p.Val147Gly)
c.362T>G (p.Val121Gly)
c.271T>G
c.741T>G
n.461T>G
c.*808T>G (n.*808T>G)
n.382T>G
c.245T>G (p.Val82Gly)
15g.101646787A>GCA393979154TM2D3c.440T>C (p.Val147Ala)
c.362T>C (p.Val121Ala)
c.271T>C
c.741T>C
n.461T>C
c.*808T>C (n.*808T>C)
n.382T>C
c.245T>C (p.Val82Ala)
gnomAD v4
15g.101646787A>TCA393979155TM2D3c.440T>A (p.Val147Glu)
c.362T>A (p.Val121Glu)
c.271T>A
c.741T>A
n.461T>A
c.*808T>A (n.*808T>A)
n.382T>A
c.245T>A (p.Val82Glu)
15g.101646788C>ACA393979158TM2D3c.439G>T (p.Val147Leu)
c.361G>T (p.Val121Leu)
c.270G>T
c.740G>T
n.460G>T
c.*807G>T (n.*807G>T)
n.381G>T
c.244G>T (p.Val82Leu)
15g.101646788C>GCA393979161TM2D3c.439G>C (p.Val147Leu)
c.361G>C (p.Val121Leu)
c.270G>C
c.740G>C
n.460G>C
c.*807G>C (n.*807G>C)
n.381G>C
c.244G>C (p.Val82Leu)
15g.101646788C>TCA393979164TM2D3c.439G>A (p.Val147Met)
c.361G>A (p.Val121Met)
c.270G>A
c.740G>A
n.460G>A
c.*807G>A (n.*807G>A)
n.381G>A
c.244G>A (p.Val82Met)
15g.101646789C>ACA492691532TM2D3c.438G>T (p.Thr146=)
c.360G>T (p.Thr120=)
c.269G>T
c.739G>T
n.459G>T
c.*806G>T (n.*806G>T)
n.380G>T
c.243G>T (p.Thr81=)
gnomAD v4
15g.101646789C=CA2200628500TM2D3c.438G= (p.Thr146=)
c.360G= (p.Thr120=)
c.269G=
c.739G=
n.459G=
c.*806G= (n.*806G=)
n.380G=
c.243G= (p.Thr81=)
15g.101646789C>GCA492691534TM2D3c.438G>C (p.Thr146=)
c.360G>C (p.Thr120=)
c.269G>C
c.739G>C
n.459G>C
c.*806G>C (n.*806G>C)
n.380G>C
c.243G>C (p.Thr81=)
15g.101646789C>TCA7764595TM2D3c.438G>A (p.Thr146=)
c.360G>A (p.Thr120=)
c.269G>A
c.739G>A
n.459G>A
c.*806G>A (n.*806G>A)
n.380G>A
c.243G>A (p.Thr81=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.101646790G>ACA7764596TM2D3c.437C>T (p.Thr146Met)
c.359C>T (p.Thr120Met)
c.268C>T
c.738C>T
n.458C>T
c.*805C>T (n.*805C>T)
n.379C>T
c.242C>T (p.Thr81Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.101646790G>CCA393979169TM2D3c.437C>G (p.Thr146Arg)
c.359C>G (p.Thr120Arg)
c.268C>G
c.738C>G
n.458C>G
c.*805C>G (n.*805C>G)
n.379C>G
c.242C>G (p.Thr81Arg)
15g.101646790G=CA2200628501TM2D3c.437C= (p.Thr146=)
c.359C= (p.Thr120=)
c.268C=
c.738C=
n.458C=
c.*805C= (n.*805C=)
n.379C=
c.242C= (p.Thr81=)
15g.101646790G>TCA393979171TM2D3c.437C>A (p.Thr146Lys)
c.359C>A (p.Thr120Lys)
c.268C>A
c.738C>A
n.458C>A
c.*805C>A (n.*805C>A)
n.379C>A
c.242C>A (p.Thr81Lys)
gnomAD v4
15g.101646791T>ACA393979173TM2D3c.436A>T (p.Thr146Ser)
c.358A>T (p.Thr120Ser)
c.267A>T
c.737A>T
n.457A>T
c.*804A>T (n.*804A>T)
n.378A>T
c.241A>T (p.Thr81Ser)
15g.101646791T>CCA393979176TM2D3c.436A>G (p.Thr146Ala)
c.358A>G (p.Thr120Ala)
c.267A>G
c.737A>G
n.457A>G
c.*804A>G (n.*804A>G)
n.378A>G
c.241A>G (p.Thr81Ala)
15g.101646791T>GCA393979179TM2D3c.436A>C (p.Thr146Pro)
c.358A>C (p.Thr120Pro)
c.267A>C
c.737A>C
n.457A>C
c.*804A>C (n.*804A>C)
n.378A>C
c.241A>C (p.Thr81Pro)
15g.101646792C>ACA393979182TM2D3c.435G>T (p.Met145Ile)
c.357G>T (p.Met119Ile)
c.266G>T
c.736G>T
n.456G>T
c.*803G>T (n.*803G>T)
n.377G>T
c.240G>T (p.Met80Ile)
15g.101646792C>GCA393979185TM2D3c.435G>C (p.Met145Ile)
c.357G>C (p.Met119Ile)
c.266G>C
c.736G>C
n.456G>C
c.*803G>C (n.*803G>C)
n.377G>C
c.240G>C (p.Met80Ile)
gnomAD v4
15g.101646792C>TCA393979181TM2D3c.435G>A (p.Met145Ile)
c.357G>A (p.Met119Ile)
c.266G>A
c.736G>A
n.456G>A
c.*803G>A (n.*803G>A)
n.377G>A
c.240G>A (p.Met80Ile)
15g.101646793A=CA2200628502TM2D3c.434T= (p.Met145=)
c.356T= (p.Met119=)
c.265T=
c.735T=
n.455T=
c.*802T= (n.*802T=)
n.376T=
c.239T= (p.Met80=)
15g.101646793A>CCA393979189TM2D3c.434T>G (p.Met145Arg)
c.356T>G (p.Met119Arg)
c.265T>G
c.735T>G
n.455T>G
c.*802T>G (n.*802T>G)
n.376T>G
c.239T>G (p.Met80Arg)
15g.101646793A>GCA276363082TM2D3c.434T>C (p.Met145Thr)
c.356T>C (p.Met119Thr)
c.265T>C
c.735T>C
n.455T>C
c.*802T>C (n.*802T>C)
n.376T>C
c.239T>C (p.Met80Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.101646793A>TCA393979187TM2D3c.434T>A (p.Met145Lys)
c.356T>A (p.Met119Lys)
c.265T>A
c.735T>A
n.455T>A
c.*802T>A (n.*802T>A)
n.376T>A
c.239T>A (p.Met80Lys)
15g.101646794T>ACA393979192TM2D3c.433A>T (p.Met145Leu)
c.355A>T (p.Met119Leu)
c.264A>T
c.734A>T
n.454A>T
c.*801A>T (n.*801A>T)
n.375A>T
c.238A>T (p.Met80Leu)
15g.101646794T>CCA393979195TM2D3c.433A>G (p.Met145Val)
c.355A>G (p.Met119Val)
c.264A>G
c.734A>G
n.454A>G
c.*801A>G (n.*801A>G)
n.375A>G
c.238A>G (p.Met80Val)
gnomAD v4
15g.101646794T>GCA393979198TM2D3c.433A>C (p.Met145Leu)
c.355A>C (p.Met119Leu)
c.264A>C
c.734A>C
n.454A>C
c.*801A>C (n.*801A>C)
n.375A>C
c.238A>C (p.Met80Leu)
15g.101646795G>ACA492691545TM2D3c.432C>T (p.Cys144=)
c.354C>T (p.Cys118=)
c.263C>T
c.733C>T
n.453C>T
c.*800C>T (n.*800C>T)
n.374C>T
c.237C>T (p.Cys79=)
15g.101646795G>CCA393979201TM2D3c.432C>G (p.Cys144Trp)
c.354C>G (p.Cys118Trp)
c.263C>G
c.733C>G
n.453C>G
c.*800C>G (n.*800C>G)
n.374C>G
c.237C>G (p.Cys79Trp)
15g.101646795G>TCA393979204TM2D3c.432C>A (p.Cys144Ter)
c.354C>A (p.Cys118Ter)
c.263C>A
c.733C>A
n.453C>A
c.*800C>A (n.*800C>A)
n.374C>A
c.237C>A (p.Cys79Ter)
15g.101646796C>ACA393979206TM2D3c.431G>T (p.Cys144Phe)
c.353G>T (p.Cys118Phe)
c.262G>T
c.732G>T
n.452G>T
c.*799G>T (n.*799G>T)
n.373G>T
c.236G>T (p.Cys79Phe)
15g.101646796C>GCA393979208TM2D3c.431G>C (p.Cys144Ser)
c.353G>C (p.Cys118Ser)
c.262G>C
c.732G>C
n.452G>C
c.*799G>C (n.*799G>C)
n.373G>C
c.236G>C (p.Cys79Ser)
15g.101646796C>TCA393979209TM2D3c.431G>A (p.Cys144Tyr)
c.353G>A (p.Cys118Tyr)
c.262G>A
c.732G>A
n.452G>A
c.*799G>A (n.*799G>A)
n.373G>A
c.236G>A (p.Cys79Tyr)
15g.101646797A>CCA393979212TM2D3c.430T>G (p.Cys144Gly)
c.352T>G (p.Cys118Gly)
c.261T>G
c.731T>G
n.451T>G
c.*798T>G (n.*798T>G)
n.372T>G
c.235T>G (p.Cys79Gly)
15g.101646797A>GCA393979214TM2D3c.430T>C (p.Cys144Arg)
c.352T>C (p.Cys118Arg)
c.261T>C
c.731T>C
n.451T>C
c.*798T>C (n.*798T>C)
n.372T>C
c.235T>C (p.Cys79Arg)
15g.101646797A>TCA393979216TM2D3c.430T>A (p.Cys144Ser)
c.352T>A (p.Cys118Ser)
c.261T>A
c.731T>A
n.451T>A
c.*798T>A (n.*798T>A)
n.372T>A
c.235T>A (p.Cys79Ser)
15g.101646798G>ACA7764597TM2D3c.429C>T (p.Ser143=)
c.351C>T (p.Ser117=)
c.260C>T
c.730C>T
n.450C>T
c.*797C>T (n.*797C>T)
n.371C>T
c.234C>T (p.Ser78=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.101646798G>CCA393979219TM2D3c.429C>G (p.Ser143Arg)
c.351C>G (p.Ser117Arg)
c.260C>G
c.730C>G
n.450C>G
c.*797C>G (n.*797C>G)
n.371C>G
c.234C>G (p.Ser78Arg)
15g.101646798G=CA2200628503TM2D3c.429C= (p.Ser143=)
c.351C= (p.Ser117=)
c.260C=
c.730C=
n.450C=
c.*797C= (n.*797C=)
n.371C=
c.234C= (p.Ser78=)
15g.101646798G>TCA7764598TM2D3c.429C>A (p.Ser143Arg)
c.351C>A (p.Ser117Arg)
c.260C>A
c.730C>A
n.450C>A
c.*797C>A (n.*797C>A)
n.371C>A
c.234C>A (p.Ser78Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.101646799C>ACA393979224TM2D3c.428G>T (p.Ser143Ile)
c.350G>T (p.Ser117Ile)
c.259G>T
c.729G>T
n.449G>T
c.*796G>T (n.*796G>T)
n.370G>T
c.233G>T (p.Ser78Ile)
15g.101646799C>GCA393979226TM2D3c.428G>C (p.Ser143Thr)
c.350G>C (p.Ser117Thr)
c.259G>C
c.729G>C
n.449G>C
c.*796G>C (n.*796G>C)
n.370G>C
c.233G>C (p.Ser78Thr)
15g.101646799C>TCA393979228TM2D3c.428G>A (p.Ser143Asn)
c.350G>A (p.Ser117Asn)
c.259G>A
c.729G>A
n.449G>A
c.*796G>A (n.*796G>A)
n.370G>A
c.233G>A (p.Ser78Asn)
gnomAD v4
15g.101646800T>ACA393979235TM2D3c.427A>T (p.Ser143Cys)
c.349A>T (p.Ser117Cys)
c.258A>T
c.728A>T
n.448A>T
c.*795A>T (n.*795A>T)
n.369A>T
c.232A>T (p.Ser78Cys)
15g.101646800T>CCA393979238TM2D3c.427A>G (p.Ser143Gly)
c.349A>G (p.Ser117Gly)
c.258A>G
c.728A>G
n.448A>G
c.*795A>G (n.*795A>G)
n.369A>G
c.232A>G (p.Ser78Gly)
15g.101646800T>GCA393979240TM2D3c.427A>C (p.Ser143Arg)
c.349A>C (p.Ser117Arg)
c.258A>C
c.728A>C
n.448A>C
c.*795A>C (n.*795A>C)
n.369A>C
c.232A>C (p.Ser78Arg)
15g.101646801G>ACA492691555TM2D3c.426C>T (p.Thr142=)
c.348C>T (p.Thr116=)
c.257C>T
c.727C>T
n.447C>T
c.*794C>T (n.*794C>T)
n.368C>T
c.231C>T (p.Thr77=)
15g.101646801G>CCA492691557TM2D3c.426C>G (p.Thr142=)
c.348C>G (p.Thr116=)
c.257C>G
c.727C>G
n.447C>G
c.*794C>G (n.*794C>G)
n.368C>G
c.231C>G (p.Thr77=)
15g.101646801G>TCA492691559TM2D3c.426C>A (p.Thr142=)
c.348C>A (p.Thr116=)
c.257C>A
c.727C>A
n.447C>A
c.*794C>A (n.*794C>A)
n.368C>A
c.231C>A (p.Thr77=)
15g.101646802G>ACA393979244TM2D3c.425C>T (p.Thr142Ile)
c.347C>T (p.Thr116Ile)
c.256C>T
c.726C>T
n.446C>T
c.*793C>T (n.*793C>T)
n.367C>T
c.230C>T (p.Thr77Ile)
dbSNP gnomAD v3 gnomAD v4
15g.101646802G>CCA393979245TM2D3c.425C>G (p.Thr142Ser)
c.347C>G (p.Thr116Ser)
c.256C>G
c.726C>G
n.446C>G
c.*793C>G (n.*793C>G)
n.367C>G
c.230C>G (p.Thr77Ser)
15g.101646802G=CA2200628504TM2D3c.425C= (p.Thr142=)
c.347C= (p.Thr116=)
c.256C=
c.726C=
n.446C=
c.*793C= (n.*793C=)
n.367C=
c.230C= (p.Thr77=)
15g.101646802G>TCA393979248TM2D3c.425C>A (p.Thr142Asn)
c.347C>A (p.Thr116Asn)
c.256C>A
c.726C>A
n.446C>A
c.*793C>A (n.*793C>A)
n.367C>A
c.230C>A (p.Thr77Asn)
15g.101646804_101646820delCA2630689652TM2D3c.409_425del (p.Glu137GlnfsTer27)
c.331_347del (p.Glu111GlnfsTer27)
c.240_256del
c.710_726del
n.430_446del
c.*777_*793del (n.*777_*793del)
n.351_367del
c.214_230del (p.Glu72GlnfsTer27)
gnomAD v4
15g.101646803T>ACA393979250TM2D3c.424A>T (p.Thr142Ser)
c.346A>T (p.Thr116Ser)
c.255A>T
c.725A>T
n.445A>T
c.*792A>T (n.*792A>T)
n.366A>T
c.229A>T (p.Thr77Ser)
15g.101646803T>CCA393979252TM2D3c.424A>G (p.Thr142Ala)
c.346A>G (p.Thr116Ala)
c.255A>G
c.725A>G
n.445A>G
c.*792A>G (n.*792A>G)
n.366A>G
c.229A>G (p.Thr77Ala)
15g.101646803T>GCA393979255TM2D3c.424A>C (p.Thr142Pro)
c.346A>C (p.Thr116Pro)
c.255A>C
c.725A>C
n.445A>C
c.*792A>C (n.*792A>C)
n.366A>C
c.229A>C (p.Thr77Pro)
15g.101646804G>ACA492691565TM2D3c.423C>T (p.Ser141=)
c.345C>T (p.Ser115=)
c.254C>T
c.724C>T
n.444C>T
c.*791C>T (n.*791C>T)
n.365C>T
c.228C>T (p.Ser76=)
15g.101646804G>CCA492691567TM2D3c.423C>G (p.Ser141=)
c.345C>G (p.Ser115=)
c.254C>G
c.724C>G
n.444C>G
c.*791C>G (n.*791C>G)
n.365C>G
c.228C>G (p.Ser76=)
15g.101646804G>TCA492691569TM2D3c.423C>A (p.Ser141=)
c.345C>A (p.Ser115=)
c.254C>A
c.724C>A
n.444C>A
c.*791C>A (n.*791C>A)
n.365C>A
c.228C>A (p.Ser76=)
15g.101646805G>ACA393979261TM2D3c.422C>T (p.Ser141Phe)
c.344C>T (p.Ser115Phe)
c.253C>T
c.723C>T
n.443C>T
c.*790C>T (n.*790C>T)
n.364C>T
c.227C>T (p.Ser76Phe)
15g.101646805G>CCA7764599TM2D3c.422C>G (p.Ser141Cys)
c.344C>G (p.Ser115Cys)
c.253C>G
c.723C>G
n.443C>G
c.*790C>G (n.*790C>G)
n.364C>G
c.227C>G (p.Ser76Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.101646805G=CA2200628505TM2D3c.422C= (p.Ser141=)
c.344C= (p.Ser115=)
c.253C=
c.723C=
n.443C=
c.*790C= (n.*790C=)
n.364C=
c.227C= (p.Ser76=)
15g.101646805G>TCA393979259TM2D3c.422C>A (p.Ser141Tyr)
c.344C>A (p.Ser115Tyr)
c.253C>A
c.723C>A
n.443C>A
c.*790C>A (n.*790C>A)
n.364C>A
c.227C>A (p.Ser76Tyr)
15g.101646806A>CCA393979265TM2D3c.421T>G (p.Ser141Ala)
c.343T>G (p.Ser115Ala)
c.252T>G
c.722T>G
n.442T>G
c.*789T>G (n.*789T>G)
n.363T>G
c.226T>G (p.Ser76Ala)
15g.101646806A>GCA393979268TM2D3c.421T>C (p.Ser141Pro)
c.343T>C (p.Ser115Pro)
c.252T>C
c.722T>C
n.442T>C
c.*789T>C (n.*789T>C)
n.363T>C
c.226T>C (p.Ser76Pro)
15g.101646806A>TCA393979269TM2D3c.421T>A (p.Ser141Thr)
c.343T>A (p.Ser115Thr)
c.252T>A
c.722T>A
n.442T>A
c.*789T>A (n.*789T>A)
n.363T>A
c.226T>A (p.Ser76Thr)
15g.101646807G>ACA492691576TM2D3c.420C>T (p.Asn140=)
c.342C>T (p.Asn114=)
c.251C>T
c.721C>T
n.441C>T
c.*788C>T (n.*788C>T)
n.362C>T
c.225C>T (p.Asn75=)
15g.101646807G>CCA393979273TM2D3c.420C>G (p.Asn140Lys)
c.342C>G (p.Asn114Lys)
c.251C>G
c.721C>G
n.441C>G
c.*788C>G (n.*788C>G)
n.362C>G
c.225C>G (p.Asn75Lys)
gnomAD v4
15g.101646807G>TCA393979276TM2D3c.420C>A (p.Asn140Lys)
c.342C>A (p.Asn114Lys)
c.251C>A
c.721C>A
n.441C>A
c.*788C>A (n.*788C>A)
n.362C>A
c.225C>A (p.Asn75Lys)
15g.101646808T>ACA393979282TM2D3c.419A>T (p.Asn140Ile)
c.341A>T (p.Asn114Ile)
c.250A>T
c.720A>T
n.440A>T
c.*787A>T (n.*787A>T)
n.361A>T
c.224A>T (p.Asn75Ile)
15g.101646808T>CCA393979283TM2D3c.419A>G (p.Asn140Ser)
c.341A>G (p.Asn114Ser)
c.250A>G
c.720A>G
n.440A>G
c.*787A>G (n.*787A>G)
n.361A>G
c.224A>G (p.Asn75Ser)
dbSNP gnomAD v2
15g.101646808T>GCA393979288TM2D3c.419A>C (p.Asn140Thr)
c.341A>C (p.Asn114Thr)
c.250A>C
c.720A>C
n.440A>C
c.*787A>C (n.*787A>C)
n.361A>C
c.224A>C (p.Asn75Thr)
gnomAD v4
15g.101646808T=CA2200628506TM2D3c.419A= (p.Asn140=)
c.341A= (p.Asn114=)
c.250A=
c.720A=
n.440A=
c.*787A= (n.*787A=)
n.361A=
c.224A= (p.Asn75=)
15g.101646809T>ACA393979289TM2D3c.418A>T (p.Asn140Tyr)
c.340A>T (p.Asn114Tyr)
c.249A>T
c.719A>T
n.439A>T
c.*786A>T (n.*786A>T)
n.360A>T
c.223A>T (p.Asn75Tyr)
15g.101646809T>CCA393979293TM2D3c.418A>G (p.Asn140Asp)
c.340A>G (p.Asn114Asp)
c.249A>G
c.719A>G
n.439A>G
c.*786A>G (n.*786A>G)
n.360A>G
c.223A>G (p.Asn75Asp)
gnomAD v4
15g.101646809T>GCA393979295TM2D3c.418A>C (p.Asn140His)
c.340A>C (p.Asn114His)
c.249A>C
c.719A>C
n.439A>C
c.*786A>C (n.*786A>C)
n.360A>C
c.223A>C (p.Asn75His)
gnomAD v4
15g.101646810G>ACA492691583TM2D3c.417C>T (p.Thr139=)
c.339C>T (p.Thr113=)
c.248C>T
c.718C>T
n.438C>T
c.*785C>T (n.*785C>T)
n.359C>T
c.222C>T (p.Thr74=)
15g.101646810G>CCA492691585TM2D3c.417C>G (p.Thr139=)
c.339C>G (p.Thr113=)
c.248C>G
c.718C>G
n.438C>G
c.*785C>G (n.*785C>G)
n.359C>G
c.222C>G (p.Thr74=)
15g.101646810G>TCA492691586TM2D3c.417C>A (p.Thr139=)
c.339C>A (p.Thr113=)
c.248C>A
c.718C>A
n.438C>A
c.*785C>A (n.*785C>A)
n.359C>A
c.222C>A (p.Thr74=)
15g.101646811G>ACA393979299TM2D3c.416C>T (p.Thr139Ile)
c.338C>T (p.Thr113Ile)
c.247C>T
c.717C>T
n.437C>T
c.*784C>T (n.*784C>T)
n.358C>T
c.221C>T (p.Thr74Ile)
15g.101646811G>CCA393979301TM2D3c.416C>G (p.Thr139Ser)
c.338C>G (p.Thr113Ser)
c.247C>G
c.717C>G
n.437C>G
c.*784C>G (n.*784C>G)
n.358C>G
c.221C>G (p.Thr74Ser)
dbSNP gnomAD v3 gnomAD v4
15g.101646811G=CA2200628507TM2D3c.416C= (p.Thr139=)
c.338C= (p.Thr113=)
c.247C=
c.717C=
n.437C=
c.*784C= (n.*784C=)
n.358C=
c.221C= (p.Thr74=)
15g.101646811G>TCA393979302TM2D3c.416C>A (p.Thr139Asn)
c.338C>A (p.Thr113Asn)
c.247C>A
c.717C>A
n.437C>A
c.*784C>A (n.*784C>A)
n.358C>A
c.221C>A (p.Thr74Asn)
gnomAD v4
15g.101646812T>ACA393979309TM2D3c.415A>T (p.Thr139Ser)
c.337A>T (p.Thr113Ser)
c.246A>T
c.716A>T
n.436A>T
c.*783A>T (n.*783A>T)
n.357A>T
c.220A>T (p.Thr74Ser)
15g.101646812T>CCA393979307TM2D3c.415A>G (p.Thr139Ala)
c.337A>G (p.Thr113Ala)
c.246A>G
c.716A>G
n.436A>G
c.*783A>G (n.*783A>G)
n.357A>G
c.220A>G (p.Thr74Ala)
dbSNP gnomAD v2 gnomAD v4
15g.101646812T>GCA393979305TM2D3c.415A>C (p.Thr139Pro)
c.337A>C (p.Thr113Pro)
c.246A>C
c.716A>C
n.436A>C
c.*783A>C (n.*783A>C)
n.357A>C
c.220A>C (p.Thr74Pro)
dbSNP
15g.101646812T=CA2200628508TM2D3c.415A= (p.Thr139=)
c.337A= (p.Thr113=)
c.246A=
c.716A=
n.436A=
c.*783A= (n.*783A=)
n.357A=
c.220A= (p.Thr74=)
15g.101646813A>CCA393979312TM2D3c.414T>G (p.Cys138Trp)
c.336T>G (p.Cys112Trp)
c.245T>G
c.715T>G
n.435T>G
c.*782T>G (n.*782T>G)
n.356T>G
c.219T>G (p.Cys73Trp)
15g.101646813A>GCA492691591TM2D3c.414T>C (p.Cys138=)
c.336T>C (p.Cys112=)
c.245T>C
c.715T>C
n.435T>C
c.*782T>C (n.*782T>C)
n.356T>C
c.219T>C (p.Cys73=)
15g.101646813A>TCA393979315TM2D3c.414T>A (p.Cys138Ter)
c.336T>A (p.Cys112Ter)
c.245T>A
c.715T>A
n.435T>A
c.*782T>A (n.*782T>A)
n.356T>A
c.219T>A (p.Cys73Ter)

Number of alleles fetched