Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.31070079G>ACA267502003TRPM1c.165C>T (p.Ser55=)
c.282C>T (p.Ser94=)
c.231C>T (p.Ser77=)
dbSNP gnomAD v3 gnomAD v4
15g.31070079G>CCA489644823TRPM1c.165C>G (p.Ser55=)
c.282C>G (p.Ser94=)
c.231C>G (p.Ser77=)
15g.31070079G=CA2167784146TRPM1c.165C= (p.Ser55=)
c.282C= (p.Ser94=)
c.231C= (p.Ser77=)
15g.31070079G>TCA489644824TRPM1c.165C>A (p.Ser55=)
c.282C>A (p.Ser94=)
c.231C>A (p.Ser77=)
15g.31070080G>ACA391537035TRPM1c.164C>T (p.Ser55Phe)
c.281C>T (p.Ser94Phe)
c.230C>T (p.Ser77Phe)
ClinVar dbSNP
15g.31070080G>CCA391537037TRPM1c.164C>G (p.Ser55Cys)
c.281C>G (p.Ser94Cys)
c.230C>G (p.Ser77Cys)
15g.31070080G>TCA391537039TRPM1c.164C>A (p.Ser55Tyr)
c.281C>A (p.Ser94Tyr)
c.230C>A (p.Ser77Tyr)
15g.31070081A>CCA391537042TRPM1c.163T>G (p.Ser55Ala)
c.280T>G (p.Ser94Ala)
c.229T>G (p.Ser77Ala)
15g.31070081A>GCA391537043TRPM1c.163T>C (p.Ser55Pro)
c.280T>C (p.Ser94Pro)
c.229T>C (p.Ser77Pro)
15g.31070081A>TCA391537045TRPM1c.163T>A (p.Ser55Thr)
c.280T>A (p.Ser94Thr)
c.229T>A (p.Ser77Thr)
15g.31070082A>CCA391537047TRPM1c.162T>G (p.Asp54Glu)
c.279T>G (p.Asp93Glu)
c.228T>G (p.Asp76Glu)
15g.31070082A>GCA489644825TRPM1c.162T>C (p.Asp54=)
c.279T>C (p.Asp93=)
c.228T>C (p.Asp76=)
15g.31070082A>TCA391537049TRPM1c.162T>A (p.Asp54Glu)
c.279T>A (p.Asp93Glu)
c.228T>A (p.Asp76Glu)
15g.31070083T>ACA391537053TRPM1c.161A>T (p.Asp54Val)
c.278A>T (p.Asp93Val)
c.227A>T (p.Asp76Val)
15g.31070083T>CCA391537055TRPM1c.161A>G (p.Asp54Gly)
c.278A>G (p.Asp93Gly)
c.227A>G (p.Asp76Gly)
15g.31070083T>GCA391537051TRPM1c.161A>C (p.Asp54Ala)
c.278A>C (p.Asp93Ala)
c.227A>C (p.Asp76Ala)
15g.31070084C>ACA391537058TRPM1c.160G>T (p.Asp54Tyr)
c.277G>T (p.Asp93Tyr)
c.226G>T (p.Asp76Tyr)
15g.31070084C>GCA391537059TRPM1c.160G>C (p.Asp54His)
c.277G>C (p.Asp93His)
c.226G>C (p.Asp76His)
15g.31070084C>TCA391537061TRPM1c.160G>A (p.Asp54Asn)
c.277G>A (p.Asp93Asn)
c.226G>A (p.Asp76Asn)
COSMIC COSMIC
15g.31070085T>ACA489644828TRPM1c.159A>T (p.Thr53=)
c.276A>T (p.Thr92=)
c.225A>T (p.Thr75=)
15g.31070085T>CCA489644827TRPM1c.159A>G (p.Thr53=)
c.276A>G (p.Thr92=)
c.225A>G (p.Thr75=)
15g.31070085T>GCA489644826TRPM1c.159A>C (p.Thr53=)
c.276A>C (p.Thr92=)
c.225A>C (p.Thr75=)
15g.31070086G>ACA391537064TRPM1c.158C>T (p.Thr53Ile)
c.275C>T (p.Thr92Ile)
c.224C>T (p.Thr75Ile)
15g.31070086G>CCA391537065TRPM1c.158C>G (p.Thr53Arg)
c.275C>G (p.Thr92Arg)
c.224C>G (p.Thr75Arg)
15g.31070086G>TCA391537067TRPM1c.158C>A (p.Thr53Lys)
c.275C>A (p.Thr92Lys)
c.224C>A (p.Thr75Lys)
15g.31070087T>ACA391537070TRPM1c.157A>T (p.Thr53Ser)
c.274A>T (p.Thr92Ser)
c.223A>T (p.Thr75Ser)
gnomAD v4
15g.31070087T>CCA391537071TRPM1c.157A>G (p.Thr53Ala)
c.274A>G (p.Thr92Ala)
c.223A>G (p.Thr75Ala)
dbSNP gnomAD v4
15g.31070087T>GCA391537073TRPM1c.157A>C (p.Thr53Pro)
c.274A>C (p.Thr92Pro)
c.223A>C (p.Thr75Pro)
15g.31070087T=CA2167784147TRPM1c.157A= (p.Thr53=)
c.274A= (p.Thr92=)
c.223A= (p.Thr75=)
15g.31070088T>ACA489644829TRPM1c.156A>T (p.Pro52=)
c.273A>T (p.Pro91=)
c.222A>T (p.Pro74=)
15g.31070088T>CCA489644831TRPM1c.156A>G (p.Pro52=)
c.273A>G (p.Pro91=)
c.222A>G (p.Pro74=)
15g.31070088T>GCA489644830TRPM1c.156A>C (p.Pro52=)
c.273A>C (p.Pro91=)
c.222A>C (p.Pro74=)
15g.31070089G>ACA7453054TRPM1c.155C>T (p.Pro52Leu)
c.272C>T (p.Pro91Leu)
c.221C>T (p.Pro74Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.31070089G>CCA391537077TRPM1c.155C>G (p.Pro52Arg)
c.272C>G (p.Pro91Arg)
c.221C>G (p.Pro74Arg)
dbSNP gnomAD v3 gnomAD v4
15g.31070089G=CA2167784148TRPM1c.155C= (p.Pro52=)
c.272C= (p.Pro91=)
c.221C= (p.Pro74=)
15g.31070089G>TCA391537079TRPM1c.155C>A (p.Pro52Gln)
c.272C>A (p.Pro91Gln)
c.221C>A (p.Pro74Gln)
15g.31070090G>ACA7453055TRPM1c.154C>T (p.Pro52Ser)
c.271C>T (p.Pro91Ser)
c.220C>T (p.Pro74Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.31070090G>CCA391537081TRPM1c.154C>G (p.Pro52Ala)
c.271C>G (p.Pro91Ala)
c.220C>G (p.Pro74Ala)
15g.31070090G=CA2167784149TRPM1c.154C= (p.Pro52=)
c.271C= (p.Pro91=)
c.220C= (p.Pro74=)
15g.31070090G>TCA7453056TRPM1c.154C>A (p.Pro52Thr)
c.271C>A (p.Pro91Thr)
c.220C>A (p.Pro74Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.31070091G>ACA489644867TRPM1c.153C>T (p.Tyr51=)
c.270C>T (p.Tyr90=)
c.219C>T (p.Tyr73=)
15g.31070091G>CCA391537085TRPM1c.153C>G (p.Tyr51Ter)
c.270C>G (p.Tyr90Ter)
c.219C>G (p.Tyr73Ter)
15g.31070091G>TCA391537086TRPM1c.153C>A (p.Tyr51Ter)
c.270C>A (p.Tyr90Ter)
c.219C>A (p.Tyr73Ter)
15g.31070092T>ACA391537088TRPM1c.152A>T (p.Tyr51Phe)
c.269A>T (p.Tyr90Phe)
c.218A>T (p.Tyr73Phe)
15g.31070092T>CCA391537090TRPM1c.152A>G (p.Tyr51Cys)
c.269A>G (p.Tyr90Cys)
c.218A>G (p.Tyr73Cys)
15g.31070092T>GCA391537092TRPM1c.152A>C (p.Tyr51Ser)
c.269A>C (p.Tyr90Ser)
c.218A>C (p.Tyr73Ser)
15g.31070093A=CA2167784150TRPM1c.151T= (p.Tyr51=)
c.268T= (p.Tyr90=)
c.217T= (p.Tyr73=)
15g.31070093A>CCA391537094TRPM1c.151T>G (p.Tyr51Asp)
c.268T>G (p.Tyr90Asp)
c.217T>G (p.Tyr73Asp)
15g.31070093A>GCA391537096TRPM1c.151T>C (p.Tyr51His)
c.268T>C (p.Tyr90His)
c.217T>C (p.Tyr73His)
15g.31070093A>TCA267502025TRPM1c.151T>A (p.Tyr51Asn)
c.268T>A (p.Tyr90Asn)
c.217T>A (p.Tyr73Asn)
dbSNP
15g.31070094G>ACA489644869TRPM1c.150C>T (p.Ser50=)
c.267C>T (p.Ser89=)
c.216C>T (p.Ser72=)
gnomAD v4
15g.31070094G>CCA391537099TRPM1c.150C>G (p.Ser50Arg)
c.267C>G (p.Ser89Arg)
c.216C>G (p.Ser72Arg)
15g.31070094G>TCA391537102TRPM1c.150C>A (p.Ser50Arg)
c.267C>A (p.Ser89Arg)
c.216C>A (p.Ser72Arg)
15g.31070095C>ACA391537103TRPM1c.149G>T (p.Ser50Ile)
c.266G>T (p.Ser89Ile)
c.215G>T (p.Ser72Ile)
15g.31070095C>GCA391537105TRPM1c.149G>C (p.Ser50Thr)
c.266G>C (p.Ser89Thr)
c.215G>C (p.Ser72Thr)
15g.31070095C>TCA391537107TRPM1c.149G>A (p.Ser50Asn)
c.266G>A (p.Ser89Asn)
c.215G>A (p.Ser72Asn)
gnomAD v4
15g.31070096T>ACA391537111TRPM1c.148A>T (p.Ser50Cys)
c.265A>T (p.Ser89Cys)
c.214A>T (p.Ser72Cys)
15g.31070096T>CCA391537113TRPM1c.148A>G (p.Ser50Gly)
c.265A>G (p.Ser89Gly)
c.214A>G (p.Ser72Gly)
ClinVar dbSNP
15g.31070096T>GCA391537109TRPM1c.148A>C (p.Ser50Arg)
c.265A>C (p.Ser89Arg)
c.214A>C (p.Ser72Arg)
15g.31070097C>ACA391537115TRPM1c.147G>T (p.Gln49His)
c.264G>T (p.Gln88His)
c.213G>T (p.Gln71His)
15g.31070097C=CA2167784151TRPM1c.147G= (p.Gln49=)
c.264G= (p.Gln88=)
c.213G= (p.Gln71=)
15g.31070097C>GCA391537117TRPM1c.147G>C (p.Gln49His)
c.264G>C (p.Gln88His)
c.213G>C (p.Gln71His)
15g.31070097C>TCA489644870TRPM1c.147G>A (p.Gln49=)
c.264G>A (p.Gln88=)
c.213G>A (p.Gln71=)
dbSNP gnomAD v4
15g.31070098T>ACA391537120TRPM1c.146A>T (p.Gln49Leu)
c.263A>T (p.Gln88Leu)
c.212A>T (p.Gln71Leu)
gnomAD v4
15g.31070098T>CCA391537122TRPM1c.146A>G (p.Gln49Arg)
c.263A>G (p.Gln88Arg)
c.212A>G (p.Gln71Arg)
15g.31070098T>GCA391537123TRPM1c.146A>C (p.Gln49Pro)
c.263A>C (p.Gln88Pro)
c.212A>C (p.Gln71Pro)
gnomAD v4
15g.31070099G>ACA391537125TRPM1c.145C>T (p.Gln49Ter)
c.262C>T (p.Gln88Ter)
c.211C>T (p.Gln71Ter)
15g.31070099G>CCA391537127TRPM1c.145C>G (p.Gln49Glu)
c.262C>G (p.Gln88Glu)
c.211C>G (p.Gln71Glu)
15g.31070099G>TCA391537128TRPM1c.145C>A (p.Gln49Lys)
c.262C>A (p.Gln88Lys)
c.211C>A (p.Gln71Lys)
15g.31070100G>ACA489644873TRPM1c.144C>T (p.Thr48=)
c.261C>T (p.Thr87=)
c.210C>T (p.Thr70=)
COSMIC COSMIC
15g.31070100G>CCA489644874TRPM1c.144C>G (p.Thr48=)
c.261C>G (p.Thr87=)
c.210C>G (p.Thr70=)
15g.31070100G>TCA489644872TRPM1c.144C>A (p.Thr48=)
c.261C>A (p.Thr87=)
c.210C>A (p.Thr70=)
15g.31070101G>ACA391537131TRPM1c.143C>T (p.Thr48Ile)
c.260C>T (p.Thr87Ile)
c.209C>T (p.Thr70Ile)
15g.31070101G>CCA391537133TRPM1c.143C>G (p.Thr48Ser)
c.260C>G (p.Thr87Ser)
c.209C>G (p.Thr70Ser)
15g.31070101G=CA2167784152TRPM1c.143C= (p.Thr48=)
c.260C= (p.Thr87=)
c.209C= (p.Thr70=)
15g.31070101G>TCA391537134TRPM1c.143C>A (p.Thr48Asn)
c.260C>A (p.Thr87Asn)
c.209C>A (p.Thr70Asn)
dbSNP gnomAD v2
15g.31070102T>ACA391537137TRPM1c.142A>T (p.Thr48Ser)
c.259A>T (p.Thr87Ser)
c.208A>T (p.Thr70Ser)
15g.31070102T>CCA391537139TRPM1c.142A>G (p.Thr48Ala)
c.259A>G (p.Thr87Ala)
c.208A>G (p.Thr70Ala)
15g.31070102T>GCA391537140TRPM1c.142A>C (p.Thr48Pro)
c.259A>C (p.Thr87Pro)
c.208A>C (p.Thr70Pro)
15g.31070103G>ACA489644876TRPM1c.141C>T (p.His47=)
c.258C>T (p.His86=)
c.207C>T (p.His69=)
gnomAD v4
15g.31070103G>CCA391537144TRPM1c.141C>G (p.His47Gln)
c.258C>G (p.His86Gln)
c.207C>G (p.His69Gln)
15g.31070103G>TCA391537143TRPM1c.141C>A (p.His47Gln)
c.258C>A (p.His86Gln)
c.207C>A (p.His69Gln)
15g.31070104T>ACA391537146TRPM1c.140A>T (p.His47Leu)
c.257A>T (p.His86Leu)
c.206A>T (p.His69Leu)
gnomAD v4
15g.31070104T>CCA391537148TRPM1c.140A>G (p.His47Arg)
c.257A>G (p.His86Arg)
c.206A>G (p.His69Arg)
15g.31070104T>GCA391537150TRPM1c.140A>C (p.His47Pro)
c.257A>C (p.His86Pro)
c.206A>C (p.His69Pro)
15g.31070105G>ACA391537152TRPM1c.139C>T (p.His47Tyr)
c.256C>T (p.His86Tyr)
c.205C>T (p.His69Tyr)
15g.31070105G>CCA391537153TRPM1c.139C>G (p.His47Asp)
c.256C>G (p.His86Asp)
c.205C>G (p.His69Asp)
15g.31070105G>TCA391537155TRPM1c.139C>A (p.His47Asn)
c.256C>A (p.His86Asn)
c.205C>A (p.His69Asn)
15g.31070106C>ACA391537159TRPM1c.138G>T (p.Lys46Asn)
c.255G>T (p.Lys85Asn)
c.204G>T (p.Lys68Asn)
15g.31070106C>GCA391537157TRPM1c.138G>C (p.Lys46Asn)
c.255G>C (p.Lys85Asn)
c.204G>C (p.Lys68Asn)
15g.31070106C>TCA489644878TRPM1c.138G>A (p.Lys46=)
c.255G>A (p.Lys85=)
c.204G>A (p.Lys68=)
15g.31070107T>ACA391537161TRPM1c.137A>T (p.Lys46Met)
c.254A>T (p.Lys85Met)
c.203A>T (p.Lys68Met)
15g.31070107T>CCA7453057TRPM1c.137A>G (p.Lys46Arg)
c.254A>G (p.Lys85Arg)
c.203A>G (p.Lys68Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.31070107T>GCA391537163TRPM1c.137A>C (p.Lys46Thr)
c.254A>C (p.Lys85Thr)
c.203A>C (p.Lys68Thr)
15g.31070107T=CA2167784153TRPM1c.137A= (p.Lys46=)
c.254A= (p.Lys85=)
c.203A= (p.Lys68=)
15g.31070108T>ACA391537166TRPM1c.136A>T (p.Lys46Ter)
c.253A>T (p.Lys85Ter)
c.202A>T (p.Lys68Ter)
15g.31070108T>CCA391537168TRPM1c.136A>G (p.Lys46Glu)
c.253A>G (p.Lys85Glu)
c.202A>G (p.Lys68Glu)
ClinVar gnomAD v4
15g.31070108T>GCA391537170TRPM1c.136A>C (p.Lys46Gln)
c.253A>C (p.Lys85Gln)
c.202A>C (p.Lys68Gln)
15g.31070109G>ACA489644881TRPM1c.135C>T (p.Ala45=)
c.252C>T (p.Ala84=)
c.201C>T (p.Ala67=)
15g.31070109G>CCA489644879TRPM1c.135C>G (p.Ala45=)
c.252C>G (p.Ala84=)
c.201C>G (p.Ala67=)
15g.31070109G>TCA489644880TRPM1c.135C>A (p.Ala45=)
c.252C>A (p.Ala84=)
c.201C>A (p.Ala67=)
15g.31070110G>ACA391537173TRPM1c.134C>T (p.Ala45Val)
c.251C>T (p.Ala84Val)
c.200C>T (p.Ala67Val)
15g.31070110G>CCA391537175TRPM1c.134C>G (p.Ala45Gly)
c.251C>G (p.Ala84Gly)
c.200C>G (p.Ala67Gly)
15g.31070110G>TCA391537174TRPM1c.134C>A (p.Ala45Asp)
c.251C>A (p.Ala84Asp)
c.200C>A (p.Ala67Asp)
15g.31070111C>ACA391537178TRPM1c.133G>T (p.Ala45Ser)
c.250G>T (p.Ala84Ser)
c.199G>T (p.Ala67Ser)
15g.31070111C>GCA391537179TRPM1c.133G>C (p.Ala45Pro)
c.250G>C (p.Ala84Pro)
c.199G>C (p.Ala67Pro)
15g.31070111C>TCA391537181TRPM1c.133G>A (p.Ala45Thr)
c.250G>A (p.Ala84Thr)
c.199G>A (p.Ala67Thr)
15g.31070112A=CA2167784154TRPM1c.132T= (p.Val44=)
c.249T= (p.Val83=)
c.198T= (p.Val66=)
15g.31070112A>CCA489644883TRPM1c.132T>G (p.Val44=)
c.249T>G (p.Val83=)
c.198T>G (p.Val66=)
15g.31070112A>GCA7453058TRPM1c.132T>C (p.Val44=)
c.249T>C (p.Val83=)
c.198T>C (p.Val66=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.31070112A>TCA489644884TRPM1c.132T>A (p.Val44=)
c.249T>A (p.Val83=)
c.198T>A (p.Val66=)
15g.31070113A=CA2167784155TRPM1c.131T= (p.Val44=)
c.248T= (p.Val83=)
c.197T= (p.Val66=)
15g.31070113A>CCA391537186TRPM1c.131T>G (p.Val44Gly)
c.248T>G (p.Val83Gly)
c.197T>G (p.Val66Gly)
15g.31070113A>GCA391537187TRPM1c.131T>C (p.Val44Ala)
c.248T>C (p.Val83Ala)
c.197T>C (p.Val66Ala)
COSMIC
15g.31070113A>TCA391537188TRPM1c.131T>A (p.Val44Asp)
c.248T>A (p.Val83Asp)
c.197T>A (p.Val66Asp)
15g.31070114C>ACA391537194TRPM1c.130G>T (p.Val44Phe)
c.247G>T (p.Val83Phe)
c.196G>T (p.Val66Phe)
15g.31070114C>GCA391537192TRPM1c.130G>C (p.Val44Leu)
c.247G>C (p.Val83Leu)
c.196G>C (p.Val66Leu)
15g.31070114C>TCA391537191TRPM1c.130G>A (p.Val44Ile)
c.247G>A (p.Val83Ile)
c.196G>A (p.Val66Ile)
15g.31070114_31070115insCCCA7453059TRPM1c.130_131insGG (p.Val44GlyfsTer?)
c.247_248insGG (p.Val83GlyfsTer?)
c.130_131insGG (p.Val44GlyfsTer30)
c.196_197insGG (p.Val66GlyfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.31070115A>CCA489644888TRPM1c.129T>G (p.Ser43=)
c.246T>G (p.Ser82=)
c.195T>G (p.Ser65=)
15g.31070115A>GCA489644890TRPM1c.129T>C (p.Ser43=)
c.246T>C (p.Ser82=)
c.195T>C (p.Ser65=)
15g.31070115A>TCA489644889TRPM1c.129T>A (p.Ser43=)
c.246T>A (p.Ser82=)
c.195T>A (p.Ser65=)
15g.31070116G>ACA391537196TRPM1c.128C>T (p.Ser43Phe)
c.245C>T (p.Ser82Phe)
c.194C>T (p.Ser65Phe)
15g.31070116G>CCA391537198TRPM1c.128C>G (p.Ser43Cys)
c.245C>G (p.Ser82Cys)
c.194C>G (p.Ser65Cys)
15g.31070116G>TCA391537200TRPM1c.128C>A (p.Ser43Tyr)
c.245C>A (p.Ser82Tyr)
c.194C>A (p.Ser65Tyr)
COSMIC
15g.31070117A>CCA391537203TRPM1c.127T>G (p.Ser43Ala)
c.244T>G (p.Ser82Ala)
c.193T>G (p.Ser65Ala)
15g.31070117A>GCA391537206TRPM1c.127T>C (p.Ser43Pro)
c.244T>C (p.Ser82Pro)
c.193T>C (p.Ser65Pro)
15g.31070117A>TCA391537204TRPM1c.127T>A (p.Ser43Thr)
c.244T>A (p.Ser82Thr)
c.193T>A (p.Ser65Thr)
15g.31070118C>ACA391537208TRPM1c.126G>T (p.Trp42Cys)
c.243G>T (p.Trp81Cys)
c.192G>T (p.Trp64Cys)
15g.31070118C>GCA391537210TRPM1c.126G>C (p.Trp42Cys)
c.243G>C (p.Trp81Cys)
c.192G>C (p.Trp64Cys)
15g.31070118C>TCA391537212TRPM1c.126G>A (p.Trp42Ter)
c.243G>A (p.Trp81Ter)
c.192G>A (p.Trp64Ter)
15g.31070119C>ACA391537214TRPM1c.125G>T (p.Trp42Leu)
c.242G>T (p.Trp81Leu)
c.191G>T (p.Trp64Leu)
15g.31070119C=CA2167784156TRPM1c.125G= (p.Trp42=)
c.242G= (p.Trp81=)
c.191G= (p.Trp64=)
15g.31070119C>GCA7453060TRPM1c.125G>C (p.Trp42Ser)
c.242G>C (p.Trp81Ser)
c.191G>C (p.Trp64Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.31070119C>TCA391537218TRPM1c.125G>A (p.Trp42Ter)
c.242G>A (p.Trp81Ter)
c.191G>A (p.Trp64Ter)
15g.31070120A>CCA391537221TRPM1c.124T>G (p.Trp42Gly)
c.241T>G (p.Trp81Gly)
c.190T>G (p.Trp64Gly)
15g.31070120A>GCA391537222TRPM1c.124T>C (p.Trp42Arg)
c.241T>C (p.Trp81Arg)
c.190T>C (p.Trp64Arg)
15g.31070120A>TCA391537224TRPM1c.124T>A (p.Trp42Arg)
c.241T>A (p.Trp81Arg)
c.190T>A (p.Trp64Arg)
15g.31070121T>ACA391537225TRPM1c.123A>T (p.Lys41Asn)
c.240A>T (p.Lys80Asn)
c.189A>T (p.Lys63Asn)
gnomAD v4
15g.31070121T>CCA489644894TRPM1c.123A>G (p.Lys41=)
c.240A>G (p.Lys80=)
c.189A>G (p.Lys63=)
15g.31070121T>GCA391537226TRPM1c.123A>C (p.Lys41Asn)
c.240A>C (p.Lys80Asn)
c.189A>C (p.Lys63Asn)
15g.31070122T>ACA391537232TRPM1c.122A>T (p.Lys41Ile)
c.239A>T (p.Lys80Ile)
c.188A>T (p.Lys63Ile)
15g.31070122T>CCA391537230TRPM1c.122A>G (p.Lys41Arg)
c.239A>G (p.Lys80Arg)
c.188A>G (p.Lys63Arg)
15g.31070122T>GCA391537229TRPM1c.122A>C (p.Lys41Thr)
c.239A>C (p.Lys80Thr)
c.188A>C (p.Lys63Thr)
dbSNP gnomAD v2 gnomAD v4
15g.31070122T=CA2167784157TRPM1c.122A= (p.Lys41=)
c.239A= (p.Lys80=)
c.188A= (p.Lys63=)
15g.31070123T>ACA391537235TRPM1c.121A>T (p.Lys41Ter)
c.238A>T (p.Lys80Ter)
c.187A>T (p.Lys63Ter)
15g.31070123T>CCA391537238TRPM1c.121A>G (p.Lys41Glu)
c.238A>G (p.Lys80Glu)
c.187A>G (p.Lys63Glu)
dbSNP
15g.31070123T>GCA391537236TRPM1c.121A>C (p.Lys41Gln)
c.238A>C (p.Lys80Gln)
c.187A>C (p.Lys63Gln)
15g.31070123T=CA2167784158TRPM1c.121A= (p.Lys41=)
c.238A= (p.Lys80=)
c.187A= (p.Lys63=)
15g.31070124C>ACA391537241TRPM1c.120G>T (p.Glu40Asp)
c.237G>T (p.Glu79Asp)
c.186G>T (p.Glu62Asp)
15g.31070124C>GCA391537242TRPM1c.120G>C (p.Glu40Asp)
c.237G>C (p.Glu79Asp)
c.186G>C (p.Glu62Asp)
15g.31070124C>TCA489644897TRPM1c.120G>A (p.Glu40=)
c.237G>A (p.Glu79=)
c.186G>A (p.Glu62=)
15g.31070125T>ACA391537245TRPM1c.119A>T (p.Glu40Val)
c.236A>T (p.Glu79Val)
c.185A>T (p.Glu62Val)
15g.31070125T>CCA391537246TRPM1c.119A>G (p.Glu40Gly)
c.236A>G (p.Glu79Gly)
c.185A>G (p.Glu62Gly)
15g.31070125T>GCA391537248TRPM1c.119A>C (p.Glu40Ala)
c.236A>C (p.Glu79Ala)
c.185A>C (p.Glu62Ala)
15g.31070126C>ACA391537250TRPM1c.118G>T (p.Glu40Ter)
c.235G>T (p.Glu79Ter)
c.184G>T (p.Glu62Ter)
15g.31070126C=CA2167784159TRPM1c.118G= (p.Glu40=)
c.235G= (p.Glu79=)
c.184G= (p.Glu62=)
15g.31070126C>GCA7453061TRPM1c.118G>C (p.Glu40Gln)
c.235G>C (p.Glu79Gln)
c.184G>C (p.Glu62Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.31070126C>TCA243263TRPM1c.118G>A (p.Glu40Lys)
c.235G>A (p.Glu79Lys)
c.184G>A (p.Glu62Lys)
ClinVar dbSNP gnomAD v4
15g.31070127A>CCA489644899TRPM1c.117T>G (p.Pro39=)
c.234T>G (p.Pro78=)
c.183T>G (p.Pro61=)
gnomAD v4
15g.31070127A>GCA489644898TRPM1c.117T>C (p.Pro39=)
c.234T>C (p.Pro78=)
c.183T>C (p.Pro61=)
15g.31070127A>TCA489644901TRPM1c.117T>A (p.Pro39=)
c.234T>A (p.Pro78=)
c.183T>A (p.Pro61=)
15g.31070128G>ACA391537258TRPM1c.116C>T (p.Pro39Leu)
c.233C>T (p.Pro78Leu)
c.182C>T (p.Pro61Leu)
15g.31070128G>CCA391537255TRPM1c.116C>G (p.Pro39Arg)
c.233C>G (p.Pro78Arg)
c.182C>G (p.Pro61Arg)
15g.31070128G>TCA391537256TRPM1c.116C>A (p.Pro39His)
c.233C>A (p.Pro78His)
c.182C>A (p.Pro61His)
15g.31070129G>ACA391537261TRPM1c.115C>T (p.Pro39Ser)
c.232C>T (p.Pro78Ser)
c.181C>T (p.Pro61Ser)
dbSNP gnomAD v2 gnomAD v4
15g.31070129G>CCA391537262TRPM1c.115C>G (p.Pro39Ala)
c.232C>G (p.Pro78Ala)
c.181C>G (p.Pro61Ala)
15g.31070129G=CA2167784160TRPM1c.115C= (p.Pro39=)
c.232C= (p.Pro78=)
c.181C= (p.Pro61=)
15g.31070129G>TCA391537263TRPM1c.115C>A (p.Pro39Thr)
c.232C>A (p.Pro78Thr)
c.181C>A (p.Pro61Thr)
15g.31070130C>ACA391537265TRPM1c.114G>T (p.Gln38His)
c.231G>T (p.Gln77His)
c.180G>T (p.Gln60His)
15g.31070130C>GCA391537267TRPM1c.114G>C (p.Gln38His)
c.231G>C (p.Gln77His)
c.180G>C (p.Gln60His)
15g.31070130C>TCA489644904TRPM1c.114G>A (p.Gln38=)
c.231G>A (p.Gln77=)
c.180G>A (p.Gln60=)
15g.31070131T>ACA391537270TRPM1c.113A>T (p.Gln38Leu)
c.230A>T (p.Gln77Leu)
c.179A>T (p.Gln60Leu)
15g.31070131T>CCA391537274TRPM1c.113A>G (p.Gln38Arg)
c.230A>G (p.Gln77Arg)
c.179A>G (p.Gln60Arg)
15g.31070131T>GCA391537272TRPM1c.113A>C (p.Gln38Pro)
c.230A>C (p.Gln77Pro)
c.179A>C (p.Gln60Pro)
15g.31070131_31070133delinsTGACA2167784161TRPM1c.111_113delinsTCA (p.Thr37=)
c.228_230delinsTCA (p.Thr76=)
c.177_179delinsTCA (p.Thr59=)
15g.31070132G>ACA391537277TRPM1c.112C>T (p.Gln38Ter)
c.229C>T (p.Gln77Ter)
c.178C>T (p.Gln60Ter)
15g.31070132G>CCA391537278TRPM1c.112C>G (p.Gln38Glu)
c.229C>G (p.Gln77Glu)
c.178C>G (p.Gln60Glu)
15g.31070132G>TCA391537279TRPM1c.112C>A (p.Gln38Lys)
c.229C>A (p.Gln77Lys)
c.178C>A (p.Gln60Lys)
15g.31070133_31070134delCA7453062TRPM1c.111_112del (p.Gln38AlafsTer2)
c.228_229del (p.Gln77AlafsTer2)
c.177_178del (p.Gln60AlafsTer2)
dbSNP ExAC
15g.31070133A=CA2167784162TRPM1c.111T= (p.Thr37=)
c.228T= (p.Thr76=)
c.177T= (p.Thr59=)
15g.31070133A>CCA489644906TRPM1c.111T>G (p.Thr37=)
c.228T>G (p.Thr76=)
c.177T>G (p.Thr59=)
gnomAD v4
15g.31070133A>GCA267502054TRPM1c.111T>C (p.Thr37=)
c.228T>C (p.Thr76=)
c.177T>C (p.Thr59=)
dbSNP
15g.31070133A>TCA7453063TRPM1c.111T>A (p.Thr37=)
c.228T>A (p.Thr76=)
c.177T>A (p.Thr59=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.31070134G>ACA391537282TRPM1c.110C>T (p.Thr37Ile)
c.227C>T (p.Thr76Ile)
c.176C>T (p.Thr59Ile)
15g.31070134G>CCA391537285TRPM1c.110C>G (p.Thr37Ser)
c.227C>G (p.Thr76Ser)
c.176C>G (p.Thr59Ser)
15g.31070134G>TCA391537286TRPM1c.110C>A (p.Thr37Asn)
c.227C>A (p.Thr76Asn)
c.176C>A (p.Thr59Asn)
15g.31070135T>ACA391537288TRPM1c.109A>T (p.Thr37Ser)
c.226A>T (p.Thr76Ser)
c.175A>T (p.Thr59Ser)
15g.31070135T>CCA391537289TRPM1c.109A>G (p.Thr37Ala)
c.226A>G (p.Thr76Ala)
c.175A>G (p.Thr59Ala)
15g.31070135T>GCA391537290TRPM1c.109A>C (p.Thr37Pro)
c.226A>C (p.Thr76Pro)
c.175A>C (p.Thr59Pro)
gnomAD v4
15g.31070136C>ACA391537294TRPM1c.108G>T (p.Glu36Asp)
c.225G>T (p.Glu75Asp)
c.174G>T (p.Glu58Asp)
15g.31070136C>GCA391537292TRPM1c.108G>C (p.Glu36Asp)
c.225G>C (p.Glu75Asp)
c.174G>C (p.Glu58Asp)
15g.31070136C>TCA489644907TRPM1c.108G>A (p.Glu36=)
c.225G>A (p.Glu75=)
c.174G>A (p.Glu58=)
15g.31070137T>ACA391537297TRPM1c.107A>T (p.Glu36Val)
c.224A>T (p.Glu75Val)
c.173A>T (p.Glu58Val)
15g.31070137T>CCA391537299TRPM1c.107A>G (p.Glu36Gly)
c.224A>G (p.Glu75Gly)
c.173A>G (p.Glu58Gly)
15g.31070137T>GCA391537300TRPM1c.107A>C (p.Glu36Ala)
c.224A>C (p.Glu75Ala)
c.173A>C (p.Glu58Ala)
15g.31070138C>ACA7453064TRPM1c.106G>T (p.Glu36Ter)
c.223G>T (p.Glu75Ter)
c.172G>T (p.Glu58Ter)
dbSNP ExAC gnomAD v2
15g.31070138C=CA2167784163TRPM1c.106G= (p.Glu36=)
c.223G= (p.Glu75=)
c.172G= (p.Glu58=)
15g.31070138C>GCA391537302TRPM1c.106G>C (p.Glu36Gln)
c.223G>C (p.Glu75Gln)
c.172G>C (p.Glu58Gln)
15g.31070138C>TCA391537304TRPM1c.106G>A (p.Glu36Lys)
c.223G>A (p.Glu75Lys)
c.172G>A (p.Glu58Lys)
15g.31070139C>ACA489644913TRPM1c.105G>T (p.Val35=)
c.222G>T (p.Val74=)
c.171G>T (p.Val57=)
15g.31070139C=CA2167784164TRPM1c.105G= (p.Val35=)
c.222G= (p.Val74=)
c.171G= (p.Val57=)
15g.31070139C>GCA489644911TRPM1c.105G>C (p.Val35=)
c.222G>C (p.Val74=)
c.171G>C (p.Val57=)
15g.31070139C>TCA489644912TRPM1c.105G>A (p.Val35=)
c.222G>A (p.Val74=)
c.171G>A (p.Val57=)
dbSNP gnomAD v3 gnomAD v4
15g.31070140A>CCA391537308TRPM1c.104T>G (p.Val35Gly)
c.221T>G (p.Val74Gly)
c.170T>G (p.Val57Gly)
15g.31070140A>GCA391537306TRPM1c.104T>C (p.Val35Ala)
c.221T>C (p.Val74Ala)
c.170T>C (p.Val57Ala)
15g.31070140A>TCA391537307TRPM1c.104T>A (p.Val35Glu)
c.221T>A (p.Val74Glu)
c.170T>A (p.Val57Glu)
15g.31070141C>ACA391537310TRPM1c.103G>T (p.Val35Leu)
c.220G>T (p.Val74Leu)
c.169G>T (p.Val57Leu)
15g.31070141C=CA2167784165TRPM1c.103G= (p.Val35=)
c.220G= (p.Val74=)
c.169G= (p.Val57=)
15g.31070141C>GCA7453065TRPM1c.103G>C (p.Val35Leu)
c.220G>C (p.Val74Leu)
c.169G>C (p.Val57Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.31070141C>TCA391537313TRPM1c.103G>A (p.Val35Met)
c.220G>A (p.Val74Met)
c.169G>A (p.Val57Met)
dbSNP
15g.31070142C>ACA391537315TRPM1c.102G>T (p.Gln34His)
c.219G>T (p.Gln73His)
c.168G>T (p.Gln56His)
15g.31070142C>GCA391537317TRPM1c.102G>C (p.Gln34His)
c.219G>C (p.Gln73His)
c.168G>C (p.Gln56His)
15g.31070142C>TCA489644914TRPM1c.102G>A (p.Gln34=)
c.219G>A (p.Gln73=)
c.168G>A (p.Gln56=)
15g.31070143T>ACA391537322TRPM1c.101A>T (p.Gln34Leu)
c.218A>T (p.Gln73Leu)
c.167A>T (p.Gln56Leu)
15g.31070143T>CCA391537319TRPM1c.101A>G (p.Gln34Arg)
c.218A>G (p.Gln73Arg)
c.167A>G (p.Gln56Arg)
gnomAD v4
15g.31070143T>GCA391537321TRPM1c.101A>C (p.Gln34Pro)
c.218A>C (p.Gln73Pro)
c.167A>C (p.Gln56Pro)
gnomAD v4
15g.31070144G>ACA391537324TRPM1c.100C>T (p.Gln34Ter)
c.217C>T (p.Gln73Ter)
c.166C>T (p.Gln56Ter)
gnomAD v4
15g.31070144G>CCA391537326TRPM1c.100C>G (p.Gln34Glu)
c.217C>G (p.Gln73Glu)
c.166C>G (p.Gln56Glu)
15g.31070144G>TCA391537328TRPM1c.100C>A (p.Gln34Lys)
c.217C>A (p.Gln73Lys)
c.166C>A (p.Gln56Lys)
15g.31070145T>ACA391537330TRPM1c.99A>T (p.Lys33Asn)
c.216A>T (p.Lys72Asn)
c.165A>T (p.Lys55Asn)
15g.31070145T>CCA489644915TRPM1c.99A>G (p.Lys33=)
c.216A>G (p.Lys72=)
c.165A>G (p.Lys55=)
gnomAD v4
15g.31070145T>GCA391537331TRPM1c.99A>C (p.Lys33Asn)
c.216A>C (p.Lys72Asn)
c.165A>C (p.Lys55Asn)
15g.31070146T>ACA391537333TRPM1c.98A>T (p.Lys33Ile)
c.215A>T (p.Lys72Ile)
c.164A>T (p.Lys55Ile)
15g.31070146T>CCA391537335TRPM1c.98A>G (p.Lys33Arg)
c.215A>G (p.Lys72Arg)
c.164A>G (p.Lys55Arg)
15g.31070146T>GCA391537336TRPM1c.98A>C (p.Lys33Thr)
c.215A>C (p.Lys72Thr)
c.164A>C (p.Lys55Thr)
15g.31070147T>ACA7453066TRPM1c.97A>T (p.Lys33Ter)
c.214A>T (p.Lys72Ter)
c.163A>T (p.Lys55Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.31070147T>CCA391537340TRPM1c.97A>G (p.Lys33Glu)
c.214A>G (p.Lys72Glu)
c.163A>G (p.Lys55Glu)
15g.31070147T>GCA391537343TRPM1c.97A>C (p.Lys33Gln)
c.214A>C (p.Lys72Gln)
c.163A>C (p.Lys55Gln)
gnomAD v4
15g.31070147T=CA2167784166TRPM1c.97A= (p.Lys33=)
c.214A= (p.Lys72=)
c.163A= (p.Lys55=)
15g.31070148G>ACA489644917TRPM1c.96C>T (p.Ser32=)
c.213C>T (p.Ser71=)
c.162C>T (p.Ser54=)
dbSNP gnomAD v3 gnomAD v4
15g.31070148G>CCA391537344TRPM1c.96C>G (p.Ser32Arg)
c.213C>G (p.Ser71Arg)
c.162C>G (p.Ser54Arg)
15g.31070148G=CA2167784167TRPM1c.96C= (p.Ser32=)
c.213C= (p.Ser71=)
c.162C= (p.Ser54=)
15g.31070148G>TCA391537346TRPM1c.96C>A (p.Ser32Arg)
c.213C>A (p.Ser71Arg)
c.162C>A (p.Ser54Arg)
15g.31070148_31070149delinsATCA267502093TRPM1c.95_96delinsAT (p.Ser32Asn)
c.212_213delinsAT (p.Ser71Asn)
c.161_162delinsAT (p.Ser54Asn)
dbSNP
15g.31070148_31070149delinsGCCA2167784168TRPM1c.95_96delinsGC (p.Ser32=)
c.212_213delinsGC (p.Ser71=)
c.161_162delinsGC (p.Ser54=)
15g.31070149C>ACA391537347TRPM1c.95G>T (p.Ser32Ile)
c.212G>T (p.Ser71Ile)
c.161G>T (p.Ser54Ile)
dbSNP
15g.31070149C=CA2167784169TRPM1c.95G= (p.Ser32=)
c.212G= (p.Ser71=)
c.161G= (p.Ser54=)
15g.31070149C>GCA391537350TRPM1c.95G>C (p.Ser32Thr)
c.212G>C (p.Ser71Thr)
c.161G>C (p.Ser54Thr)
dbSNP
15g.31070149C>TCA202314TRPM1c.95G>A (p.Ser32Asn)
c.212G>A (p.Ser71Asn)
c.161G>A (p.Ser54Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.31070149_31070152delinsCTTTCA2167784170TRPM1c.92_95delinsAAAG (p.Glu31=)
c.209_212delinsAAAG (p.Glu70=)
c.158_161delinsAAAG (p.Glu53=)
15g.31070150T>ACA391537352TRPM1c.94A>T (p.Ser32Cys)
c.211A>T (p.Ser71Cys)
c.160A>T (p.Ser54Cys)
15g.31070150T>CCA391537355TRPM1c.94A>G (p.Ser32Gly)
c.211A>G (p.Ser71Gly)
c.160A>G (p.Ser54Gly)
15g.31070150T>GCA391537356TRPM1c.94A>C (p.Ser32Arg)
c.211A>C (p.Ser71Arg)
c.160A>C (p.Ser54Arg)
dbSNP gnomAD v3 gnomAD v4
15g.31070150T=CA2167784171TRPM1c.94A= (p.Ser32=)
c.211A= (p.Ser71=)
c.160A= (p.Ser54=)
15g.31070150_31070152delCA7453067TRPM1c.92_94del (p.Glu31_Ser32delinsGly)
c.209_211del (p.Glu70_Ser71delinsGly)
c.158_160del (p.Glu53_Ser54delinsGly)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.31070151T>ACA391537358TRPM1c.93A>T (p.Glu31Asp)
c.210A>T (p.Glu70Asp)
c.159A>T (p.Glu53Asp)
15g.31070151T>CCA489644925TRPM1c.93A>G (p.Glu31=)
c.210A>G (p.Glu70=)
c.159A>G (p.Glu53=)
15g.31070151T>GCA391537361TRPM1c.93A>C (p.Glu31Asp)
c.210A>C (p.Glu70Asp)
c.159A>C (p.Glu53Asp)
15g.31070152T>ACA391537363TRPM1c.92A>T (p.Glu31Val)
c.209A>T (p.Glu70Val)
c.158A>T (p.Glu53Val)
15g.31070152T>CCA391537365TRPM1c.92A>G (p.Glu31Gly)
c.209A>G (p.Glu70Gly)
c.158A>G (p.Glu53Gly)
15g.31070152T>GCA391537367TRPM1c.92A>C (p.Glu31Ala)
c.209A>C (p.Glu70Ala)
c.158A>C (p.Glu53Ala)
15g.31070152T=CA2167784172TRPM1c.92A= (p.Glu31=)
c.209A= (p.Glu70=)
c.158A= (p.Glu53=)
15g.31070153C>ACA391537369TRPM1c.91G>T (p.Glu31Ter)
c.208G>T (p.Glu70Ter)
c.157G>T (p.Glu53Ter)
15g.31070153C>GCA391537371TRPM1c.91G>C (p.Glu31Gln)
c.208G>C (p.Glu70Gln)
c.157G>C (p.Glu53Gln)
15g.31070153C>TCA391537372TRPM1c.91G>A (p.Glu31Lys)
c.208G>A (p.Glu70Lys)
c.157G>A (p.Glu53Lys)
15g.31070154_31070155insCCCCCA7453068TRPM1c.91_92insGGGG (p.Glu31GlyfsTer11)
c.208_209insGGGG (p.Glu70GlyfsTer11)
c.157_158insGGGG (p.Glu53GlyfsTer11)
dbSNP ExAC gnomAD v2
15g.31070154C>ACA391537374TRPM1c.90G>T (p.Glu30Asp)
c.207G>T (p.Glu69Asp)
c.156G>T (p.Glu52Asp)
15g.31070154C=CA2167784173TRPM1c.90G= (p.Glu30=)
c.207G= (p.Glu69=)
c.156G= (p.Glu52=)
15g.31070154C>GCA391537376TRPM1c.90G>C (p.Glu30Asp)
c.207G>C (p.Glu69Asp)
c.156G>C (p.Glu52Asp)
15g.31070154C>TCA489644926TRPM1c.90G>A (p.Glu30=)
c.207G>A (p.Glu69=)
c.156G>A (p.Glu52=)
dbSNP gnomAD v4
15g.31070155T>ACA7453069TRPM1c.89A>T (p.Glu30Val)
c.206A>T (p.Glu69Val)
c.155A>T (p.Glu52Val)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.31070155T>CCA391537379TRPM1c.89A>G (p.Glu30Gly)
c.206A>G (p.Glu69Gly)
c.155A>G (p.Glu52Gly)
15g.31070155T>GCA391537381TRPM1c.89A>C (p.Glu30Ala)
c.206A>C (p.Glu69Ala)
c.155A>C (p.Glu52Ala)
15g.31070155T=CA2167784174TRPM1c.89A= (p.Glu30=)
c.206A= (p.Glu69=)
c.155A= (p.Glu52=)
15g.31070156C>ACA391537382TRPM1c.88G>T (p.Glu30Ter)
c.205G>T (p.Glu69Ter)
c.154G>T (p.Glu52Ter)
15g.31070156C>GCA391537383TRPM1c.88G>C (p.Glu30Gln)
c.205G>C (p.Glu69Gln)
c.154G>C (p.Glu52Gln)
15g.31070156C>TCA391537384TRPM1c.88G>A (p.Glu30Lys)
c.205G>A (p.Glu69Lys)
c.154G>A (p.Glu52Lys)
15g.31070157T>ACA391537385TRPM1c.87A>T (p.Glu29Asp)
c.204A>T (p.Glu68Asp)
c.153A>T (p.Glu51Asp)
15g.31070157T>CCA489644927TRPM1c.87A>G (p.Glu29=)
c.204A>G (p.Glu68=)
c.153A>G (p.Glu51=)
15g.31070157T>GCA391537386TRPM1c.87A>C (p.Glu29Asp)
c.204A>C (p.Glu68Asp)
c.153A>C (p.Glu51Asp)
15g.31070158T>ACA391537387TRPM1c.86A>T (p.Glu29Val)
c.203A>T (p.Glu68Val)
c.152A>T (p.Glu51Val)
15g.31070158T>CCA391537388TRPM1c.86A>G (p.Glu29Gly)
c.203A>G (p.Glu68Gly)
c.152A>G (p.Glu51Gly)
gnomAD v3 gnomAD v4
15g.31070158T>GCA391537389TRPM1c.86A>C (p.Glu29Ala)
c.203A>C (p.Glu68Ala)
c.152A>C (p.Glu51Ala)
15g.31070159C>ACA391537390TRPM1c.85G>T (p.Glu29Ter)
c.202G>T (p.Glu68Ter)
c.151G>T (p.Glu51Ter)
15g.31070159C>GCA391537391TRPM1c.85G>C (p.Glu29Gln)
c.202G>C (p.Glu68Gln)
c.151G>C (p.Glu51Gln)
15g.31070159C>TCA391537392TRPM1c.85G>A (p.Glu29Lys)
c.202G>A (p.Glu68Lys)
c.151G>A (p.Glu51Lys)
gnomAD v4 COSMIC
15g.31070160A=CA2167784175TRPM1c.84T= (p.Asn28=)
c.201T= (p.Asn67=)
c.150T= (p.Asn50=)
15g.31070160A>CCA391537393TRPM1c.84T>G (p.Asn28Lys)
c.201T>G (p.Asn67Lys)
c.150T>G (p.Asn50Lys)
dbSNP gnomAD v4
15g.31070160A>GCA489644928TRPM1c.84T>C (p.Asn28=)
c.201T>C (p.Asn67=)
c.150T>C (p.Asn50=)
gnomAD v4
15g.31070160A>TCA391537394TRPM1c.84T>A (p.Asn28Lys)
c.201T>A (p.Asn67Lys)
c.150T>A (p.Asn50Lys)
15g.31070161T>ACA391537395TRPM1c.83A>T (p.Asn28Ile)
c.200A>T (p.Asn67Ile)
c.149A>T (p.Asn50Ile)
dbSNP
15g.31070161T>CCA391537396TRPM1c.83A>G (p.Asn28Ser)
c.200A>G (p.Asn67Ser)
c.149A>G (p.Asn50Ser)
15g.31070161T>GCA391537397TRPM1c.83A>C (p.Asn28Thr)
c.200A>C (p.Asn67Thr)
c.149A>C (p.Asn50Thr)
15g.31070161T=CA2167784176TRPM1c.83A= (p.Asn28=)
c.200A= (p.Asn67=)
c.149A= (p.Asn50=)
15g.31070165delCA2573320497TRPM1c.83del (p.Asn28MetfsTer?)
c.200del (p.Asn67MetfsTer?)
c.149del (p.Asn50MetfsTer?)
15g.31070162T>ACA391537398TRPM1c.82A>T (p.Asn28Tyr)
c.199A>T (p.Asn67Tyr)
c.148A>T (p.Asn50Tyr)
15g.31070162T>CCA391537399TRPM1c.82A>G (p.Asn28Asp)
c.199A>G (p.Asn67Asp)
c.148A>G (p.Asn50Asp)
15g.31070162T>GCA391537400TRPM1c.82A>C (p.Asn28His)
c.199A>C (p.Asn67His)
c.148A>C (p.Asn50His)
15g.31070163T>ACA391537401TRPM1c.81A>T (p.Lys27Asn)
c.198A>T (p.Lys66Asn)
c.147A>T (p.Lys49Asn)
15g.31070163T>CCA489644929TRPM1c.81A>G (p.Lys27=)
c.198A>G (p.Lys66=)
c.147A>G (p.Lys49=)
15g.31070163T>GCA391537402TRPM1c.81A>C (p.Lys27Asn)
c.198A>C (p.Lys66Asn)
c.147A>C (p.Lys49Asn)
15g.31070164T>ACA391537403TRPM1c.80A>T (p.Lys27Ile)
c.197A>T (p.Lys66Ile)
c.146A>T (p.Lys49Ile)
15g.31070164T>CCA391537404TRPM1c.80A>G (p.Lys27Arg)
c.197A>G (p.Lys66Arg)
c.146A>G (p.Lys49Arg)
gnomAD v4
15g.31070164T>GCA391537405TRPM1c.80A>C (p.Lys27Thr)
c.197A>C (p.Lys66Thr)
c.146A>C (p.Lys49Thr)
15g.31070165T>ACA391537406TRPM1c.79A>T (p.Lys27Ter)
c.196A>T (p.Lys66Ter)
c.145A>T (p.Lys49Ter)
15g.31070165T>CCA391537409TRPM1c.79A>G (p.Lys27Glu)
c.196A>G (p.Lys66Glu)
c.145A>G (p.Lys49Glu)
15g.31070165T>GCA391537411TRPM1c.79A>C (p.Lys27Gln)
c.196A>C (p.Lys66Gln)
c.145A>C (p.Lys49Gln)
15g.31070166G>ACA489644930TRPM1c.78C>T (p.Ser26=)
c.195C>T (p.Ser65=)
c.144C>T (p.Ser48=)
dbSNP gnomAD v2
15g.31070166G>CCA391537415TRPM1c.78C>G (p.Ser26Arg)
c.195C>G (p.Ser65Arg)
c.144C>G (p.Ser48Arg)
dbSNP gnomAD v3 gnomAD v4
15g.31070166G=CA2167784177TRPM1c.78C= (p.Ser26=)
c.195C= (p.Ser65=)
c.144C= (p.Ser48=)
15g.31070166G>TCA391537417TRPM1c.78C>A (p.Ser26Arg)
c.195C>A (p.Ser65Arg)
c.144C>A (p.Ser48Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.31070167C>ACA391537421TRPM1c.77G>T (p.Ser26Ile)
c.194G>T (p.Ser65Ile)
c.143G>T (p.Ser48Ile)
15g.31070167C=CA2167784178TRPM1c.77G= (p.Ser26=)
c.194G= (p.Ser65=)
c.143G= (p.Ser48=)
15g.31070167C>GCA391537424TRPM1c.77G>C (p.Ser26Thr)
c.194G>C (p.Ser65Thr)
c.143G>C (p.Ser48Thr)
15g.31070167C>TCA7453070TRPM1c.77G>A (p.Ser26Asn)
c.194G>A (p.Ser65Asn)
c.143G>A (p.Ser48Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.31070168T>ACA391537428TRPM1c.76A>T (p.Ser26Cys)
c.193A>T (p.Ser65Cys)
c.142A>T (p.Ser48Cys)
15g.31070168T>CCA391537430TRPM1c.76A>G (p.Ser26Gly)
c.193A>G (p.Ser65Gly)
c.142A>G (p.Ser48Gly)
dbSNP
15g.31070168T>GCA391537435TRPM1c.76A>C (p.Ser26Arg)
c.193A>C (p.Ser65Arg)
c.142A>C (p.Ser48Arg)
15g.31070168T=CA2167784179TRPM1c.76A= (p.Ser26=)
c.193A= (p.Ser65=)
c.142A= (p.Ser48=)
15g.31070169G>ACA489644932TRPM1c.75C>T (p.Pro25=)
c.192C>T (p.Pro64=)
c.141C>T (p.Pro47=)
dbSNP
15g.31070169G>CCA489644931TRPM1c.75C>G (p.Pro25=)
c.192C>G (p.Pro64=)
c.141C>G (p.Pro47=)
15g.31070169G=CA2167784180TRPM1c.75C= (p.Pro25=)
c.192C= (p.Pro64=)
c.141C= (p.Pro47=)
15g.31070169G>TCA489644933TRPM1c.75C>A (p.Pro25=)
c.192C>A (p.Pro64=)
c.141C>A (p.Pro47=)
gnomAD v3 gnomAD v4
15g.31070170G>ACA391537436TRPM1c.74C>T (p.Pro25Leu)
c.191C>T (p.Pro64Leu)
c.140C>T (p.Pro47Leu)
15g.31070170G>CCA391537440TRPM1c.74C>G (p.Pro25Arg)
c.191C>G (p.Pro64Arg)
c.140C>G (p.Pro47Arg)
15g.31070170G>TCA391537444TRPM1c.74C>A (p.Pro25His)
c.191C>A (p.Pro64His)
c.140C>A (p.Pro47His)
gnomAD v3 gnomAD v4
15g.31070171G>ACA391537447TRPM1c.73C>T (p.Pro25Ser)
c.190C>T (p.Pro64Ser)
c.139C>T (p.Pro47Ser)
15g.31070171G>CCA391537450TRPM1c.73C>G (p.Pro25Ala)
c.190C>G (p.Pro64Ala)
c.139C>G (p.Pro47Ala)
15g.31070171G>TCA391537453TRPM1c.73C>A (p.Pro25Thr)
c.190C>A (p.Pro64Thr)
c.139C>A (p.Pro47Thr)
15g.31070172T>ACA489644935TRPM1c.72A>T (p.Thr24=)
c.189A>T (p.Thr63=)
c.138A>T (p.Thr46=)
15g.31070172T>CCA7453071TRPM1c.72A>G (p.Thr24=)
c.189A>G (p.Thr63=)
c.138A>G (p.Thr46=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.31070172T>GCA489644934TRPM1c.72A>C (p.Thr24=)
c.189A>C (p.Thr63=)
c.138A>C (p.Thr46=)
15g.31070172T=CA2167784181TRPM1c.72A= (p.Thr24=)
c.189A= (p.Thr63=)
c.138A= (p.Thr46=)
15g.31070172dupCA2627517266TRPM1c.72dup (p.Pro25ThrfsTer5)
c.189dup (p.Pro64ThrfsTer5)
c.138dup (p.Pro47ThrfsTer5)
gnomAD v4
15g.31070173G>ACA391537463TRPM1c.71C>T (p.Thr24Ile)
c.188C>T (p.Thr63Ile)
c.137C>T (p.Thr46Ile)
gnomAD v4
15g.31070173G>CCA391537459TRPM1c.71C>G (p.Thr24Arg)
c.188C>G (p.Thr63Arg)
c.137C>G (p.Thr46Arg)
15g.31070173G>TCA391537465TRPM1c.71C>A (p.Thr24Lys)
c.188C>A (p.Thr63Lys)
c.137C>A (p.Thr46Lys)
15g.31070173dupCA617553146TRPM1c.71dup (p.Pro25ThrfsTer5)
c.188dup (p.Pro64ThrfsTer5)
c.137dup (p.Pro47ThrfsTer5)
dbSNP gnomAD v2 gnomAD v4
15g.31070174T>ACA391537471TRPM1c.70A>T (p.Thr24Ser)
c.187A>T (p.Thr63Ser)
c.136A>T (p.Thr46Ser)
15g.31070174T>CCA7453072TRPM1c.70A>G (p.Thr24Ala)
c.187A>G (p.Thr63Ala)
c.136A>G (p.Thr46Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.31070174T>GCA391537475TRPM1c.70A>C (p.Thr24Pro)
c.187A>C (p.Thr63Pro)
c.136A>C (p.Thr46Pro)
15g.31070174T=CA2167784182TRPM1c.70A= (p.Thr24=)
c.187A= (p.Thr63=)
c.136A= (p.Thr46=)
15g.31070175T>ACA489644937TRPM1c.69A>T (p.Ala23=)
c.186A>T (p.Ala62=)
c.135A>T (p.Ala45=)
15g.31070175T>CCA489644938TRPM1c.69A>G (p.Ala23=)
c.186A>G (p.Ala62=)
c.135A>G (p.Ala45=)
15g.31070175T>GCA489644936TRPM1c.69A>C (p.Ala23=)
c.186A>C (p.Ala62=)
c.135A>C (p.Ala45=)
15g.31070176G>ACA391537480TRPM1c.68C>T (p.Ala23Val)
c.185C>T (p.Ala62Val)
c.134C>T (p.Ala45Val)
ClinVar dbSNP
15g.31070176G>CCA391537482TRPM1c.68C>G (p.Ala23Gly)
c.185C>G (p.Ala62Gly)
c.134C>G (p.Ala45Gly)
15g.31070176G=CA2167784183TRPM1c.68C= (p.Ala23=)
c.185C= (p.Ala62=)
c.134C= (p.Ala45=)
15g.31070176G>TCA391537484TRPM1c.68C>A (p.Ala23Glu)
c.185C>A (p.Ala62Glu)
c.134C>A (p.Ala45Glu)
15g.31070177C>ACA391537493TRPM1c.67G>T (p.Ala23Ser)
c.184G>T (p.Ala62Ser)
c.133G>T (p.Ala45Ser)
15g.31070177C=CA2167784184TRPM1c.67G= (p.Ala23=)
c.184G= (p.Ala62=)
c.133G= (p.Ala45=)
15g.31070177C>GCA7453073TRPM1c.67G>C (p.Ala23Pro)
c.184G>C (p.Ala62Pro)
c.133G>C (p.Ala45Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.31070177C>TCA391537489TRPM1c.67G>A (p.Ala23Thr)
c.184G>A (p.Ala62Thr)
c.133G>A (p.Ala45Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.31070178A>CCA391537496TRPM1c.66T>G (p.Ser22Arg)
c.183T>G (p.Ser61Arg)
c.132T>G (p.Ser44Arg)
15g.31070178A>GCA489644939TRPM1c.66T>C (p.Ser22=)
c.183T>C (p.Ser61=)
c.132T>C (p.Ser44=)
15g.31070178A>TCA391537499TRPM1c.66T>A (p.Ser22Arg)
c.183T>A (p.Ser61Arg)
c.132T>A (p.Ser44Arg)
gnomAD v4 COSMIC COSMIC
15g.31070179C>ACA391537505TRPM1c.65G>T (p.Ser22Ile)
c.182G>T (p.Ser61Ile)
c.131G>T (p.Ser44Ile)
15g.31070179C>GCA391537507TRPM1c.65G>C (p.Ser22Thr)
c.182G>C (p.Ser61Thr)
c.131G>C (p.Ser44Thr)
15g.31070179C>TCA391537511TRPM1c.65G>A (p.Ser22Asn)
c.182G>A (p.Ser61Asn)
c.131G>A (p.Ser44Asn)
ClinVar

Number of alleles fetched