Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.31070100G>A | CA489644873 | TRPM1 | c.144C>T (p.Thr48=) c.261C>T (p.Thr87=) c.210C>T (p.Thr70=) | COSMIC COSMIC |
15 | g.31070100G>C | CA489644874 | TRPM1 | c.144C>G (p.Thr48=) c.261C>G (p.Thr87=) c.210C>G (p.Thr70=) | |
15 | g.31070100G>T | CA489644872 | TRPM1 | c.144C>A (p.Thr48=) c.261C>A (p.Thr87=) c.210C>A (p.Thr70=) | |
15 | g.31070101G>A | CA391537131 | TRPM1 | c.143C>T (p.Thr48Ile) c.260C>T (p.Thr87Ile) c.209C>T (p.Thr70Ile) | |
15 | g.31070101G>C | CA391537133 | TRPM1 | c.143C>G (p.Thr48Ser) c.260C>G (p.Thr87Ser) c.209C>G (p.Thr70Ser) | |
15 | g.31070101G= | CA2167784152 | TRPM1 | c.143C= (p.Thr48=) c.260C= (p.Thr87=) c.209C= (p.Thr70=) | |
15 | g.31070101G>T | CA391537134 | TRPM1 | c.143C>A (p.Thr48Asn) c.260C>A (p.Thr87Asn) c.209C>A (p.Thr70Asn) | dbSNP gnomAD v2 |
15 | g.31070102T>A | CA391537137 | TRPM1 | c.142A>T (p.Thr48Ser) c.259A>T (p.Thr87Ser) c.208A>T (p.Thr70Ser) | |
15 | g.31070102T>C | CA391537139 | TRPM1 | c.142A>G (p.Thr48Ala) c.259A>G (p.Thr87Ala) c.208A>G (p.Thr70Ala) | |
15 | g.31070102T>G | CA391537140 | TRPM1 | c.142A>C (p.Thr48Pro) c.259A>C (p.Thr87Pro) c.208A>C (p.Thr70Pro) | |
15 | g.31070103G>A | CA489644876 | TRPM1 | c.141C>T (p.His47=) c.258C>T (p.His86=) c.207C>T (p.His69=) | gnomAD v4 |
15 | g.31070103G>C | CA391537144 | TRPM1 | c.141C>G (p.His47Gln) c.258C>G (p.His86Gln) c.207C>G (p.His69Gln) | |
15 | g.31070103G>T | CA391537143 | TRPM1 | c.141C>A (p.His47Gln) c.258C>A (p.His86Gln) c.207C>A (p.His69Gln) | |
15 | g.31070104T>A | CA391537146 | TRPM1 | c.140A>T (p.His47Leu) c.257A>T (p.His86Leu) c.206A>T (p.His69Leu) | gnomAD v4 |
15 | g.31070104T>C | CA391537148 | TRPM1 | c.140A>G (p.His47Arg) c.257A>G (p.His86Arg) c.206A>G (p.His69Arg) | |
15 | g.31070104T>G | CA391537150 | TRPM1 | c.140A>C (p.His47Pro) c.257A>C (p.His86Pro) c.206A>C (p.His69Pro) | |
15 | g.31070105G>A | CA391537152 | TRPM1 | c.139C>T (p.His47Tyr) c.256C>T (p.His86Tyr) c.205C>T (p.His69Tyr) | |
15 | g.31070105G>C | CA391537153 | TRPM1 | c.139C>G (p.His47Asp) c.256C>G (p.His86Asp) c.205C>G (p.His69Asp) | |
15 | g.31070105G>T | CA391537155 | TRPM1 | c.139C>A (p.His47Asn) c.256C>A (p.His86Asn) c.205C>A (p.His69Asn) | |
15 | g.31070106C>A | CA391537159 | TRPM1 | c.138G>T (p.Lys46Asn) c.255G>T (p.Lys85Asn) c.204G>T (p.Lys68Asn) | |
15 | g.31070106C>G | CA391537157 | TRPM1 | c.138G>C (p.Lys46Asn) c.255G>C (p.Lys85Asn) c.204G>C (p.Lys68Asn) | |
15 | g.31070106C>T | CA489644878 | TRPM1 | c.138G>A (p.Lys46=) c.255G>A (p.Lys85=) c.204G>A (p.Lys68=) | |
15 | g.31070107T>A | CA391537161 | TRPM1 | c.137A>T (p.Lys46Met) c.254A>T (p.Lys85Met) c.203A>T (p.Lys68Met) | |
15 | g.31070107T>C | CA7453057 | TRPM1 | c.137A>G (p.Lys46Arg) c.254A>G (p.Lys85Arg) c.203A>G (p.Lys68Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070107T>G | CA391537163 | TRPM1 | c.137A>C (p.Lys46Thr) c.254A>C (p.Lys85Thr) c.203A>C (p.Lys68Thr) | |
15 | g.31070107T= | CA2167784153 | TRPM1 | c.137A= (p.Lys46=) c.254A= (p.Lys85=) c.203A= (p.Lys68=) | |
15 | g.31070108T>A | CA391537166 | TRPM1 | c.136A>T (p.Lys46Ter) c.253A>T (p.Lys85Ter) c.202A>T (p.Lys68Ter) | |
15 | g.31070108T>C | CA391537168 | TRPM1 | c.136A>G (p.Lys46Glu) c.253A>G (p.Lys85Glu) c.202A>G (p.Lys68Glu) | ClinVar gnomAD v4 |
15 | g.31070108T>G | CA391537170 | TRPM1 | c.136A>C (p.Lys46Gln) c.253A>C (p.Lys85Gln) c.202A>C (p.Lys68Gln) | |
15 | g.31070109G>A | CA489644881 | TRPM1 | c.135C>T (p.Ala45=) c.252C>T (p.Ala84=) c.201C>T (p.Ala67=) | |
15 | g.31070109G>C | CA489644879 | TRPM1 | c.135C>G (p.Ala45=) c.252C>G (p.Ala84=) c.201C>G (p.Ala67=) | |
15 | g.31070109G>T | CA489644880 | TRPM1 | c.135C>A (p.Ala45=) c.252C>A (p.Ala84=) c.201C>A (p.Ala67=) | |
15 | g.31070110G>A | CA391537173 | TRPM1 | c.134C>T (p.Ala45Val) c.251C>T (p.Ala84Val) c.200C>T (p.Ala67Val) | |
15 | g.31070110G>C | CA391537175 | TRPM1 | c.134C>G (p.Ala45Gly) c.251C>G (p.Ala84Gly) c.200C>G (p.Ala67Gly) | |
15 | g.31070110G>T | CA391537174 | TRPM1 | c.134C>A (p.Ala45Asp) c.251C>A (p.Ala84Asp) c.200C>A (p.Ala67Asp) | |
15 | g.31070111C>A | CA391537178 | TRPM1 | c.133G>T (p.Ala45Ser) c.250G>T (p.Ala84Ser) c.199G>T (p.Ala67Ser) | |
15 | g.31070111C>G | CA391537179 | TRPM1 | c.133G>C (p.Ala45Pro) c.250G>C (p.Ala84Pro) c.199G>C (p.Ala67Pro) | |
15 | g.31070111C>T | CA391537181 | TRPM1 | c.133G>A (p.Ala45Thr) c.250G>A (p.Ala84Thr) c.199G>A (p.Ala67Thr) | |
15 | g.31070112A= | CA2167784154 | TRPM1 | c.132T= (p.Val44=) c.249T= (p.Val83=) c.198T= (p.Val66=) | |
15 | g.31070112A>C | CA489644883 | TRPM1 | c.132T>G (p.Val44=) c.249T>G (p.Val83=) c.198T>G (p.Val66=) | |
15 | g.31070112A>G | CA7453058 | TRPM1 | c.132T>C (p.Val44=) c.249T>C (p.Val83=) c.198T>C (p.Val66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070112A>T | CA489644884 | TRPM1 | c.132T>A (p.Val44=) c.249T>A (p.Val83=) c.198T>A (p.Val66=) | |
15 | g.31070113A= | CA2167784155 | TRPM1 | c.131T= (p.Val44=) c.248T= (p.Val83=) c.197T= (p.Val66=) | |
15 | g.31070113A>C | CA391537186 | TRPM1 | c.131T>G (p.Val44Gly) c.248T>G (p.Val83Gly) c.197T>G (p.Val66Gly) | |
15 | g.31070113A>G | CA391537187 | TRPM1 | c.131T>C (p.Val44Ala) c.248T>C (p.Val83Ala) c.197T>C (p.Val66Ala) | COSMIC |
15 | g.31070113A>T | CA391537188 | TRPM1 | c.131T>A (p.Val44Asp) c.248T>A (p.Val83Asp) c.197T>A (p.Val66Asp) | |
15 | g.31070114C>A | CA391537194 | TRPM1 | c.130G>T (p.Val44Phe) c.247G>T (p.Val83Phe) c.196G>T (p.Val66Phe) | |
15 | g.31070114C>G | CA391537192 | TRPM1 | c.130G>C (p.Val44Leu) c.247G>C (p.Val83Leu) c.196G>C (p.Val66Leu) | |
15 | g.31070114C>T | CA391537191 | TRPM1 | c.130G>A (p.Val44Ile) c.247G>A (p.Val83Ile) c.196G>A (p.Val66Ile) | |
15 | g.31070114_31070115insCC | CA7453059 | TRPM1 | c.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 |
15 | g.31070115A>C | CA489644888 | TRPM1 | c.129T>G (p.Ser43=) c.246T>G (p.Ser82=) c.195T>G (p.Ser65=) | |
15 | g.31070115A>G | CA489644890 | TRPM1 | c.129T>C (p.Ser43=) c.246T>C (p.Ser82=) c.195T>C (p.Ser65=) | |
15 | g.31070115A>T | CA489644889 | TRPM1 | c.129T>A (p.Ser43=) c.246T>A (p.Ser82=) c.195T>A (p.Ser65=) | |
15 | g.31070116G>A | CA391537196 | TRPM1 | c.128C>T (p.Ser43Phe) c.245C>T (p.Ser82Phe) c.194C>T (p.Ser65Phe) | |
15 | g.31070116G>C | CA391537198 | TRPM1 | c.128C>G (p.Ser43Cys) c.245C>G (p.Ser82Cys) c.194C>G (p.Ser65Cys) | |
15 | g.31070116G>T | CA391537200 | TRPM1 | c.128C>A (p.Ser43Tyr) c.245C>A (p.Ser82Tyr) c.194C>A (p.Ser65Tyr) | COSMIC |
15 | g.31070117A>C | CA391537203 | TRPM1 | c.127T>G (p.Ser43Ala) c.244T>G (p.Ser82Ala) c.193T>G (p.Ser65Ala) | |
15 | g.31070117A>G | CA391537206 | TRPM1 | c.127T>C (p.Ser43Pro) c.244T>C (p.Ser82Pro) c.193T>C (p.Ser65Pro) | |
15 | g.31070117A>T | CA391537204 | TRPM1 | c.127T>A (p.Ser43Thr) c.244T>A (p.Ser82Thr) c.193T>A (p.Ser65Thr) | |
15 | g.31070118C>A | CA391537208 | TRPM1 | c.126G>T (p.Trp42Cys) c.243G>T (p.Trp81Cys) c.192G>T (p.Trp64Cys) | |
15 | g.31070118C>G | CA391537210 | TRPM1 | c.126G>C (p.Trp42Cys) c.243G>C (p.Trp81Cys) c.192G>C (p.Trp64Cys) | |
15 | g.31070118C>T | CA391537212 | TRPM1 | c.126G>A (p.Trp42Ter) c.243G>A (p.Trp81Ter) c.192G>A (p.Trp64Ter) | |
15 | g.31070119C>A | CA391537214 | TRPM1 | c.125G>T (p.Trp42Leu) c.242G>T (p.Trp81Leu) c.191G>T (p.Trp64Leu) | |
15 | g.31070119C= | CA2167784156 | TRPM1 | c.125G= (p.Trp42=) c.242G= (p.Trp81=) c.191G= (p.Trp64=) | |
15 | g.31070119C>G | CA7453060 | TRPM1 | c.125G>C (p.Trp42Ser) c.242G>C (p.Trp81Ser) c.191G>C (p.Trp64Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070119C>T | CA391537218 | TRPM1 | c.125G>A (p.Trp42Ter) c.242G>A (p.Trp81Ter) c.191G>A (p.Trp64Ter) | |
15 | g.31070120A>C | CA391537221 | TRPM1 | c.124T>G (p.Trp42Gly) c.241T>G (p.Trp81Gly) c.190T>G (p.Trp64Gly) | |
15 | g.31070120A>G | CA391537222 | TRPM1 | c.124T>C (p.Trp42Arg) c.241T>C (p.Trp81Arg) c.190T>C (p.Trp64Arg) | |
15 | g.31070120A>T | CA391537224 | TRPM1 | c.124T>A (p.Trp42Arg) c.241T>A (p.Trp81Arg) c.190T>A (p.Trp64Arg) | |
15 | g.31070121T>A | CA391537225 | TRPM1 | c.123A>T (p.Lys41Asn) c.240A>T (p.Lys80Asn) c.189A>T (p.Lys63Asn) | gnomAD v4 |
15 | g.31070121T>C | CA489644894 | TRPM1 | c.123A>G (p.Lys41=) c.240A>G (p.Lys80=) c.189A>G (p.Lys63=) | |
15 | g.31070121T>G | CA391537226 | TRPM1 | c.123A>C (p.Lys41Asn) c.240A>C (p.Lys80Asn) c.189A>C (p.Lys63Asn) | |
15 | g.31070122T>A | CA391537232 | TRPM1 | c.122A>T (p.Lys41Ile) c.239A>T (p.Lys80Ile) c.188A>T (p.Lys63Ile) | |
15 | g.31070122T>C | CA391537230 | TRPM1 | c.122A>G (p.Lys41Arg) c.239A>G (p.Lys80Arg) c.188A>G (p.Lys63Arg) | |
15 | g.31070122T>G | CA391537229 | TRPM1 | c.122A>C (p.Lys41Thr) c.239A>C (p.Lys80Thr) c.188A>C (p.Lys63Thr) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070122T= | CA2167784157 | TRPM1 | c.122A= (p.Lys41=) c.239A= (p.Lys80=) c.188A= (p.Lys63=) | |
15 | g.31070123T>A | CA391537235 | TRPM1 | c.121A>T (p.Lys41Ter) c.238A>T (p.Lys80Ter) c.187A>T (p.Lys63Ter) | |
15 | g.31070123T>C | CA391537238 | TRPM1 | c.121A>G (p.Lys41Glu) c.238A>G (p.Lys80Glu) c.187A>G (p.Lys63Glu) | dbSNP |
15 | g.31070123T>G | CA391537236 | TRPM1 | c.121A>C (p.Lys41Gln) c.238A>C (p.Lys80Gln) c.187A>C (p.Lys63Gln) | |
15 | g.31070123T= | CA2167784158 | TRPM1 | c.121A= (p.Lys41=) c.238A= (p.Lys80=) c.187A= (p.Lys63=) | |
15 | g.31070124C>A | CA391537241 | TRPM1 | c.120G>T (p.Glu40Asp) c.237G>T (p.Glu79Asp) c.186G>T (p.Glu62Asp) | |
15 | g.31070124C>G | CA391537242 | TRPM1 | c.120G>C (p.Glu40Asp) c.237G>C (p.Glu79Asp) c.186G>C (p.Glu62Asp) | |
15 | g.31070124C>T | CA489644897 | TRPM1 | c.120G>A (p.Glu40=) c.237G>A (p.Glu79=) c.186G>A (p.Glu62=) | |
15 | g.31070125T>A | CA391537245 | TRPM1 | c.119A>T (p.Glu40Val) c.236A>T (p.Glu79Val) c.185A>T (p.Glu62Val) | |
15 | g.31070125T>C | CA391537246 | TRPM1 | c.119A>G (p.Glu40Gly) c.236A>G (p.Glu79Gly) c.185A>G (p.Glu62Gly) | |
15 | g.31070125T>G | CA391537248 | TRPM1 | c.119A>C (p.Glu40Ala) c.236A>C (p.Glu79Ala) c.185A>C (p.Glu62Ala) | |
15 | g.31070126C>A | CA391537250 | TRPM1 | c.118G>T (p.Glu40Ter) c.235G>T (p.Glu79Ter) c.184G>T (p.Glu62Ter) | |
15 | g.31070126C= | CA2167784159 | TRPM1 | c.118G= (p.Glu40=) c.235G= (p.Glu79=) c.184G= (p.Glu62=) | |
15 | g.31070126C>G | CA7453061 | TRPM1 | c.118G>C (p.Glu40Gln) c.235G>C (p.Glu79Gln) c.184G>C (p.Glu62Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070126C>T | CA243263 | TRPM1 | c.118G>A (p.Glu40Lys) c.235G>A (p.Glu79Lys) c.184G>A (p.Glu62Lys) | ClinVar dbSNP gnomAD v4 |
15 | g.31070127A>C | CA489644899 | TRPM1 | c.117T>G (p.Pro39=) c.234T>G (p.Pro78=) c.183T>G (p.Pro61=) | gnomAD v4 |
15 | g.31070127A>G | CA489644898 | TRPM1 | c.117T>C (p.Pro39=) c.234T>C (p.Pro78=) c.183T>C (p.Pro61=) | |
15 | g.31070127A>T | CA489644901 | TRPM1 | c.117T>A (p.Pro39=) c.234T>A (p.Pro78=) c.183T>A (p.Pro61=) | |
15 | g.31070128G>A | CA391537258 | TRPM1 | c.116C>T (p.Pro39Leu) c.233C>T (p.Pro78Leu) c.182C>T (p.Pro61Leu) | |
15 | g.31070128G>C | CA391537255 | TRPM1 | c.116C>G (p.Pro39Arg) c.233C>G (p.Pro78Arg) c.182C>G (p.Pro61Arg) | |
15 | g.31070128G>T | CA391537256 | TRPM1 | c.116C>A (p.Pro39His) c.233C>A (p.Pro78His) c.182C>A (p.Pro61His) | |
15 | g.31070129G>A | CA391537261 | TRPM1 | c.115C>T (p.Pro39Ser) c.232C>T (p.Pro78Ser) c.181C>T (p.Pro61Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070129G>C | CA391537262 | TRPM1 | c.115C>G (p.Pro39Ala) c.232C>G (p.Pro78Ala) c.181C>G (p.Pro61Ala) | |
15 | g.31070129G= | CA2167784160 | TRPM1 | c.115C= (p.Pro39=) c.232C= (p.Pro78=) c.181C= (p.Pro61=) | |
15 | g.31070129G>T | CA391537263 | TRPM1 | c.115C>A (p.Pro39Thr) c.232C>A (p.Pro78Thr) c.181C>A (p.Pro61Thr) | |
15 | g.31070130C>A | CA391537265 | TRPM1 | c.114G>T (p.Gln38His) c.231G>T (p.Gln77His) c.180G>T (p.Gln60His) | |
15 | g.31070130C>G | CA391537267 | TRPM1 | c.114G>C (p.Gln38His) c.231G>C (p.Gln77His) c.180G>C (p.Gln60His) | |
15 | g.31070130C>T | CA489644904 | TRPM1 | c.114G>A (p.Gln38=) c.231G>A (p.Gln77=) c.180G>A (p.Gln60=) | |
15 | g.31070131T>A | CA391537270 | TRPM1 | c.113A>T (p.Gln38Leu) c.230A>T (p.Gln77Leu) c.179A>T (p.Gln60Leu) | |
15 | g.31070131T>C | CA391537274 | TRPM1 | c.113A>G (p.Gln38Arg) c.230A>G (p.Gln77Arg) c.179A>G (p.Gln60Arg) | |
15 | g.31070131T>G | CA391537272 | TRPM1 | c.113A>C (p.Gln38Pro) c.230A>C (p.Gln77Pro) c.179A>C (p.Gln60Pro) | |
15 | g.31070131_31070133delinsTGA | CA2167784161 | TRPM1 | c.111_113delinsTCA (p.Thr37=) c.228_230delinsTCA (p.Thr76=) c.177_179delinsTCA (p.Thr59=) | |
15 | g.31070132G>A | CA391537277 | TRPM1 | c.112C>T (p.Gln38Ter) c.229C>T (p.Gln77Ter) c.178C>T (p.Gln60Ter) | |
15 | g.31070132G>C | CA391537278 | TRPM1 | c.112C>G (p.Gln38Glu) c.229C>G (p.Gln77Glu) c.178C>G (p.Gln60Glu) | |
15 | g.31070132G>T | CA391537279 | TRPM1 | c.112C>A (p.Gln38Lys) c.229C>A (p.Gln77Lys) c.178C>A (p.Gln60Lys) | |
15 | g.31070133_31070134del | CA7453062 | TRPM1 | c.111_112del (p.Gln38AlafsTer2) c.228_229del (p.Gln77AlafsTer2) c.177_178del (p.Gln60AlafsTer2) | dbSNP ExAC |
15 | g.31070133A= | CA2167784162 | TRPM1 | c.111T= (p.Thr37=) c.228T= (p.Thr76=) c.177T= (p.Thr59=) | |
15 | g.31070133A>C | CA489644906 | TRPM1 | c.111T>G (p.Thr37=) c.228T>G (p.Thr76=) c.177T>G (p.Thr59=) | gnomAD v4 |
15 | g.31070133A>G | CA267502054 | TRPM1 | c.111T>C (p.Thr37=) c.228T>C (p.Thr76=) c.177T>C (p.Thr59=) | dbSNP |
15 | g.31070133A>T | CA7453063 | TRPM1 | c.111T>A (p.Thr37=) c.228T>A (p.Thr76=) c.177T>A (p.Thr59=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070134G>A | CA391537282 | TRPM1 | c.110C>T (p.Thr37Ile) c.227C>T (p.Thr76Ile) c.176C>T (p.Thr59Ile) | |
15 | g.31070134G>C | CA391537285 | TRPM1 | c.110C>G (p.Thr37Ser) c.227C>G (p.Thr76Ser) c.176C>G (p.Thr59Ser) | |
15 | g.31070134G>T | CA391537286 | TRPM1 | c.110C>A (p.Thr37Asn) c.227C>A (p.Thr76Asn) c.176C>A (p.Thr59Asn) | |
15 | g.31070135T>A | CA391537288 | TRPM1 | c.109A>T (p.Thr37Ser) c.226A>T (p.Thr76Ser) c.175A>T (p.Thr59Ser) | |
15 | g.31070135T>C | CA391537289 | TRPM1 | c.109A>G (p.Thr37Ala) c.226A>G (p.Thr76Ala) c.175A>G (p.Thr59Ala) | |
15 | g.31070135T>G | CA391537290 | TRPM1 | c.109A>C (p.Thr37Pro) c.226A>C (p.Thr76Pro) c.175A>C (p.Thr59Pro) | gnomAD v4 |
15 | g.31070136C>A | CA391537294 | TRPM1 | c.108G>T (p.Glu36Asp) c.225G>T (p.Glu75Asp) c.174G>T (p.Glu58Asp) | |
15 | g.31070136C>G | CA391537292 | TRPM1 | c.108G>C (p.Glu36Asp) c.225G>C (p.Glu75Asp) c.174G>C (p.Glu58Asp) | |
15 | g.31070136C>T | CA489644907 | TRPM1 | c.108G>A (p.Glu36=) c.225G>A (p.Glu75=) c.174G>A (p.Glu58=) | |
15 | g.31070137T>A | CA391537297 | TRPM1 | c.107A>T (p.Glu36Val) c.224A>T (p.Glu75Val) c.173A>T (p.Glu58Val) | |
15 | g.31070137T>C | CA391537299 | TRPM1 | c.107A>G (p.Glu36Gly) c.224A>G (p.Glu75Gly) c.173A>G (p.Glu58Gly) | |
15 | g.31070137T>G | CA391537300 | TRPM1 | c.107A>C (p.Glu36Ala) c.224A>C (p.Glu75Ala) c.173A>C (p.Glu58Ala) | |
15 | g.31070138C>A | CA7453064 | TRPM1 | c.106G>T (p.Glu36Ter) c.223G>T (p.Glu75Ter) c.172G>T (p.Glu58Ter) | dbSNP ExAC gnomAD v2 |
15 | g.31070138C= | CA2167784163 | TRPM1 | c.106G= (p.Glu36=) c.223G= (p.Glu75=) c.172G= (p.Glu58=) | |
15 | g.31070138C>G | CA391537302 | TRPM1 | c.106G>C (p.Glu36Gln) c.223G>C (p.Glu75Gln) c.172G>C (p.Glu58Gln) | |
15 | g.31070138C>T | CA391537304 | TRPM1 | c.106G>A (p.Glu36Lys) c.223G>A (p.Glu75Lys) c.172G>A (p.Glu58Lys) | |
15 | g.31070139C>A | CA489644913 | TRPM1 | c.105G>T (p.Val35=) c.222G>T (p.Val74=) c.171G>T (p.Val57=) | |
15 | g.31070139C= | CA2167784164 | TRPM1 | c.105G= (p.Val35=) c.222G= (p.Val74=) c.171G= (p.Val57=) | |
15 | g.31070139C>G | CA489644911 | TRPM1 | c.105G>C (p.Val35=) c.222G>C (p.Val74=) c.171G>C (p.Val57=) | |
15 | g.31070139C>T | CA489644912 | TRPM1 | c.105G>A (p.Val35=) c.222G>A (p.Val74=) c.171G>A (p.Val57=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070140A>C | CA391537308 | TRPM1 | c.104T>G (p.Val35Gly) c.221T>G (p.Val74Gly) c.170T>G (p.Val57Gly) | |
15 | g.31070140A>G | CA391537306 | TRPM1 | c.104T>C (p.Val35Ala) c.221T>C (p.Val74Ala) c.170T>C (p.Val57Ala) | |
15 | g.31070140A>T | CA391537307 | TRPM1 | c.104T>A (p.Val35Glu) c.221T>A (p.Val74Glu) c.170T>A (p.Val57Glu) | |
15 | g.31070141C>A | CA391537310 | TRPM1 | c.103G>T (p.Val35Leu) c.220G>T (p.Val74Leu) c.169G>T (p.Val57Leu) | |
15 | g.31070141C= | CA2167784165 | TRPM1 | c.103G= (p.Val35=) c.220G= (p.Val74=) c.169G= (p.Val57=) | |
15 | g.31070141C>G | CA7453065 | TRPM1 | c.103G>C (p.Val35Leu) c.220G>C (p.Val74Leu) c.169G>C (p.Val57Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070141C>T | CA391537313 | TRPM1 | c.103G>A (p.Val35Met) c.220G>A (p.Val74Met) c.169G>A (p.Val57Met) | dbSNP |
15 | g.31070142C>A | CA391537315 | TRPM1 | c.102G>T (p.Gln34His) c.219G>T (p.Gln73His) c.168G>T (p.Gln56His) | |
15 | g.31070142C>G | CA391537317 | TRPM1 | c.102G>C (p.Gln34His) c.219G>C (p.Gln73His) c.168G>C (p.Gln56His) | |
15 | g.31070142C>T | CA489644914 | TRPM1 | c.102G>A (p.Gln34=) c.219G>A (p.Gln73=) c.168G>A (p.Gln56=) | |
15 | g.31070143T>A | CA391537322 | TRPM1 | c.101A>T (p.Gln34Leu) c.218A>T (p.Gln73Leu) c.167A>T (p.Gln56Leu) | |
15 | g.31070143T>C | CA391537319 | TRPM1 | c.101A>G (p.Gln34Arg) c.218A>G (p.Gln73Arg) c.167A>G (p.Gln56Arg) | gnomAD v4 |
15 | g.31070143T>G | CA391537321 | TRPM1 | c.101A>C (p.Gln34Pro) c.218A>C (p.Gln73Pro) c.167A>C (p.Gln56Pro) | gnomAD v4 |
15 | g.31070144G>A | CA391537324 | TRPM1 | c.100C>T (p.Gln34Ter) c.217C>T (p.Gln73Ter) c.166C>T (p.Gln56Ter) | gnomAD v4 |
15 | g.31070144G>C | CA391537326 | TRPM1 | c.100C>G (p.Gln34Glu) c.217C>G (p.Gln73Glu) c.166C>G (p.Gln56Glu) | |
15 | g.31070144G>T | CA391537328 | TRPM1 | c.100C>A (p.Gln34Lys) c.217C>A (p.Gln73Lys) c.166C>A (p.Gln56Lys) | |
15 | g.31070145T>A | CA391537330 | TRPM1 | c.99A>T (p.Lys33Asn) c.216A>T (p.Lys72Asn) c.165A>T (p.Lys55Asn) | |
15 | g.31070145T>C | CA489644915 | TRPM1 | c.99A>G (p.Lys33=) c.216A>G (p.Lys72=) c.165A>G (p.Lys55=) | gnomAD v4 |
15 | g.31070145T>G | CA391537331 | TRPM1 | c.99A>C (p.Lys33Asn) c.216A>C (p.Lys72Asn) c.165A>C (p.Lys55Asn) | |
15 | g.31070146T>A | CA391537333 | TRPM1 | c.98A>T (p.Lys33Ile) c.215A>T (p.Lys72Ile) c.164A>T (p.Lys55Ile) | |
15 | g.31070146T>C | CA391537335 | TRPM1 | c.98A>G (p.Lys33Arg) c.215A>G (p.Lys72Arg) c.164A>G (p.Lys55Arg) | |
15 | g.31070146T>G | CA391537336 | TRPM1 | c.98A>C (p.Lys33Thr) c.215A>C (p.Lys72Thr) c.164A>C (p.Lys55Thr) | |
15 | g.31070147T>A | CA7453066 | TRPM1 | c.97A>T (p.Lys33Ter) c.214A>T (p.Lys72Ter) c.163A>T (p.Lys55Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070147T>C | CA391537340 | TRPM1 | c.97A>G (p.Lys33Glu) c.214A>G (p.Lys72Glu) c.163A>G (p.Lys55Glu) | |
15 | g.31070147T>G | CA391537343 | TRPM1 | c.97A>C (p.Lys33Gln) c.214A>C (p.Lys72Gln) c.163A>C (p.Lys55Gln) | gnomAD v4 |
15 | g.31070147T= | CA2167784166 | TRPM1 | c.97A= (p.Lys33=) c.214A= (p.Lys72=) c.163A= (p.Lys55=) | |
15 | g.31070148G>A | CA489644917 | TRPM1 | c.96C>T (p.Ser32=) c.213C>T (p.Ser71=) c.162C>T (p.Ser54=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070148G>C | CA391537344 | TRPM1 | c.96C>G (p.Ser32Arg) c.213C>G (p.Ser71Arg) c.162C>G (p.Ser54Arg) | |
15 | g.31070148G= | CA2167784167 | TRPM1 | c.96C= (p.Ser32=) c.213C= (p.Ser71=) c.162C= (p.Ser54=) | |
15 | g.31070148G>T | CA391537346 | TRPM1 | c.96C>A (p.Ser32Arg) c.213C>A (p.Ser71Arg) c.162C>A (p.Ser54Arg) | |
15 | g.31070148_31070149delinsAT | CA267502093 | TRPM1 | c.95_96delinsAT (p.Ser32Asn) c.212_213delinsAT (p.Ser71Asn) c.161_162delinsAT (p.Ser54Asn) | dbSNP |
15 | g.31070148_31070149delinsGC | CA2167784168 | TRPM1 | c.95_96delinsGC (p.Ser32=) c.212_213delinsGC (p.Ser71=) c.161_162delinsGC (p.Ser54=) | |
15 | g.31070149C>A | CA391537347 | TRPM1 | c.95G>T (p.Ser32Ile) c.212G>T (p.Ser71Ile) c.161G>T (p.Ser54Ile) | dbSNP |
15 | g.31070149C= | CA2167784169 | TRPM1 | c.95G= (p.Ser32=) c.212G= (p.Ser71=) c.161G= (p.Ser54=) | |
15 | g.31070149C>G | CA391537350 | TRPM1 | c.95G>C (p.Ser32Thr) c.212G>C (p.Ser71Thr) c.161G>C (p.Ser54Thr) | dbSNP |
15 | g.31070149C>T | CA202314 | TRPM1 | c.95G>A (p.Ser32Asn) c.212G>A (p.Ser71Asn) c.161G>A (p.Ser54Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070149_31070152delinsCTTT | CA2167784170 | TRPM1 | c.92_95delinsAAAG (p.Glu31=) c.209_212delinsAAAG (p.Glu70=) c.158_161delinsAAAG (p.Glu53=) | |
15 | g.31070150T>A | CA391537352 | TRPM1 | c.94A>T (p.Ser32Cys) c.211A>T (p.Ser71Cys) c.160A>T (p.Ser54Cys) | |
15 | g.31070150T>C | CA391537355 | TRPM1 | c.94A>G (p.Ser32Gly) c.211A>G (p.Ser71Gly) c.160A>G (p.Ser54Gly) | |
15 | g.31070150T>G | CA391537356 | TRPM1 | c.94A>C (p.Ser32Arg) c.211A>C (p.Ser71Arg) c.160A>C (p.Ser54Arg) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070150T= | CA2167784171 | TRPM1 | c.94A= (p.Ser32=) c.211A= (p.Ser71=) c.160A= (p.Ser54=) | |
15 | g.31070150_31070152del | CA7453067 | TRPM1 | c.92_94del (p.Glu31_Ser32delinsGly) c.209_211del (p.Glu70_Ser71delinsGly) c.158_160del (p.Glu53_Ser54delinsGly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070151T>A | CA391537358 | TRPM1 | c.93A>T (p.Glu31Asp) c.210A>T (p.Glu70Asp) c.159A>T (p.Glu53Asp) | |
15 | g.31070151T>C | CA489644925 | TRPM1 | c.93A>G (p.Glu31=) c.210A>G (p.Glu70=) c.159A>G (p.Glu53=) | |
15 | g.31070151T>G | CA391537361 | TRPM1 | c.93A>C (p.Glu31Asp) c.210A>C (p.Glu70Asp) c.159A>C (p.Glu53Asp) | |
15 | g.31070152T>A | CA391537363 | TRPM1 | c.92A>T (p.Glu31Val) c.209A>T (p.Glu70Val) c.158A>T (p.Glu53Val) | |
15 | g.31070152T>C | CA391537365 | TRPM1 | c.92A>G (p.Glu31Gly) c.209A>G (p.Glu70Gly) c.158A>G (p.Glu53Gly) | |
15 | g.31070152T>G | CA391537367 | TRPM1 | c.92A>C (p.Glu31Ala) c.209A>C (p.Glu70Ala) c.158A>C (p.Glu53Ala) | |
15 | g.31070152T= | CA2167784172 | TRPM1 | c.92A= (p.Glu31=) c.209A= (p.Glu70=) c.158A= (p.Glu53=) | |
15 | g.31070153C>A | CA391537369 | TRPM1 | c.91G>T (p.Glu31Ter) c.208G>T (p.Glu70Ter) c.157G>T (p.Glu53Ter) | |
15 | g.31070153C>G | CA391537371 | TRPM1 | c.91G>C (p.Glu31Gln) c.208G>C (p.Glu70Gln) c.157G>C (p.Glu53Gln) | |
15 | g.31070153C>T | CA391537372 | TRPM1 | c.91G>A (p.Glu31Lys) c.208G>A (p.Glu70Lys) c.157G>A (p.Glu53Lys) | |
15 | g.31070154_31070155insCCCC | CA7453068 | TRPM1 | c.91_92insGGGG (p.Glu31GlyfsTer11) c.208_209insGGGG (p.Glu70GlyfsTer11) c.157_158insGGGG (p.Glu53GlyfsTer11) | dbSNP ExAC gnomAD v2 |
15 | g.31070154C>A | CA391537374 | TRPM1 | c.90G>T (p.Glu30Asp) c.207G>T (p.Glu69Asp) c.156G>T (p.Glu52Asp) | |
15 | g.31070154C= | CA2167784173 | TRPM1 | c.90G= (p.Glu30=) c.207G= (p.Glu69=) c.156G= (p.Glu52=) | |
15 | g.31070154C>G | CA391537376 | TRPM1 | c.90G>C (p.Glu30Asp) c.207G>C (p.Glu69Asp) c.156G>C (p.Glu52Asp) | |
15 | g.31070154C>T | CA489644926 | TRPM1 | c.90G>A (p.Glu30=) c.207G>A (p.Glu69=) c.156G>A (p.Glu52=) | dbSNP gnomAD v4 |
15 | g.31070155T>A | CA7453069 | TRPM1 | c.89A>T (p.Glu30Val) c.206A>T (p.Glu69Val) c.155A>T (p.Glu52Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070155T>C | CA391537379 | TRPM1 | c.89A>G (p.Glu30Gly) c.206A>G (p.Glu69Gly) c.155A>G (p.Glu52Gly) | |
15 | g.31070155T>G | CA391537381 | TRPM1 | c.89A>C (p.Glu30Ala) c.206A>C (p.Glu69Ala) c.155A>C (p.Glu52Ala) | |
15 | g.31070155T= | CA2167784174 | TRPM1 | c.89A= (p.Glu30=) c.206A= (p.Glu69=) c.155A= (p.Glu52=) | |
15 | g.31070156C>A | CA391537382 | TRPM1 | c.88G>T (p.Glu30Ter) c.205G>T (p.Glu69Ter) c.154G>T (p.Glu52Ter) | |
15 | g.31070156C>G | CA391537383 | TRPM1 | c.88G>C (p.Glu30Gln) c.205G>C (p.Glu69Gln) c.154G>C (p.Glu52Gln) | |
15 | g.31070156C>T | CA391537384 | TRPM1 | c.88G>A (p.Glu30Lys) c.205G>A (p.Glu69Lys) c.154G>A (p.Glu52Lys) | |
15 | g.31070157T>A | CA391537385 | TRPM1 | c.87A>T (p.Glu29Asp) c.204A>T (p.Glu68Asp) c.153A>T (p.Glu51Asp) | |
15 | g.31070157T>C | CA489644927 | TRPM1 | c.87A>G (p.Glu29=) c.204A>G (p.Glu68=) c.153A>G (p.Glu51=) | |
15 | g.31070157T>G | CA391537386 | TRPM1 | c.87A>C (p.Glu29Asp) c.204A>C (p.Glu68Asp) c.153A>C (p.Glu51Asp) | |
15 | g.31070158T>A | CA391537387 | TRPM1 | c.86A>T (p.Glu29Val) c.203A>T (p.Glu68Val) c.152A>T (p.Glu51Val) | |
15 | g.31070158T>C | CA391537388 | TRPM1 | c.86A>G (p.Glu29Gly) c.203A>G (p.Glu68Gly) c.152A>G (p.Glu51Gly) | gnomAD v3 gnomAD v4 |
15 | g.31070158T>G | CA391537389 | TRPM1 | c.86A>C (p.Glu29Ala) c.203A>C (p.Glu68Ala) c.152A>C (p.Glu51Ala) | |
15 | g.31070159C>A | CA391537390 | TRPM1 | c.85G>T (p.Glu29Ter) c.202G>T (p.Glu68Ter) c.151G>T (p.Glu51Ter) | |
15 | g.31070159C>G | CA391537391 | TRPM1 | c.85G>C (p.Glu29Gln) c.202G>C (p.Glu68Gln) c.151G>C (p.Glu51Gln) | |
15 | g.31070159C>T | CA391537392 | TRPM1 | c.85G>A (p.Glu29Lys) c.202G>A (p.Glu68Lys) c.151G>A (p.Glu51Lys) | gnomAD v4 COSMIC |
15 | g.31070160A= | CA2167784175 | TRPM1 | c.84T= (p.Asn28=) c.201T= (p.Asn67=) c.150T= (p.Asn50=) | |
15 | g.31070160A>C | CA391537393 | TRPM1 | c.84T>G (p.Asn28Lys) c.201T>G (p.Asn67Lys) c.150T>G (p.Asn50Lys) | dbSNP gnomAD v4 |
15 | g.31070160A>G | CA489644928 | TRPM1 | c.84T>C (p.Asn28=) c.201T>C (p.Asn67=) c.150T>C (p.Asn50=) | gnomAD v4 |
15 | g.31070160A>T | CA391537394 | TRPM1 | c.84T>A (p.Asn28Lys) c.201T>A (p.Asn67Lys) c.150T>A (p.Asn50Lys) | |
15 | g.31070161T>A | CA391537395 | TRPM1 | c.83A>T (p.Asn28Ile) c.200A>T (p.Asn67Ile) c.149A>T (p.Asn50Ile) | dbSNP |
15 | g.31070161T>C | CA391537396 | TRPM1 | c.83A>G (p.Asn28Ser) c.200A>G (p.Asn67Ser) c.149A>G (p.Asn50Ser) | |
15 | g.31070161T>G | CA391537397 | TRPM1 | c.83A>C (p.Asn28Thr) c.200A>C (p.Asn67Thr) c.149A>C (p.Asn50Thr) | |
15 | g.31070161T= | CA2167784176 | TRPM1 | c.83A= (p.Asn28=) c.200A= (p.Asn67=) c.149A= (p.Asn50=) | |
15 | g.31070165del | CA2573320497 | TRPM1 | c.83del (p.Asn28MetfsTer?) c.200del (p.Asn67MetfsTer?) c.149del (p.Asn50MetfsTer?) | |
15 | g.31070162T>A | CA391537398 | TRPM1 | c.82A>T (p.Asn28Tyr) c.199A>T (p.Asn67Tyr) c.148A>T (p.Asn50Tyr) | |
15 | g.31070162T>C | CA391537399 | TRPM1 | c.82A>G (p.Asn28Asp) c.199A>G (p.Asn67Asp) c.148A>G (p.Asn50Asp) | |
15 | g.31070162T>G | CA391537400 | TRPM1 | c.82A>C (p.Asn28His) c.199A>C (p.Asn67His) c.148A>C (p.Asn50His) | |
15 | g.31070163T>A | CA391537401 | TRPM1 | c.81A>T (p.Lys27Asn) c.198A>T (p.Lys66Asn) c.147A>T (p.Lys49Asn) | |
15 | g.31070163T>C | CA489644929 | TRPM1 | c.81A>G (p.Lys27=) c.198A>G (p.Lys66=) c.147A>G (p.Lys49=) | |
15 | g.31070163T>G | CA391537402 | TRPM1 | c.81A>C (p.Lys27Asn) c.198A>C (p.Lys66Asn) c.147A>C (p.Lys49Asn) | |
15 | g.31070164T>A | CA391537403 | TRPM1 | c.80A>T (p.Lys27Ile) c.197A>T (p.Lys66Ile) c.146A>T (p.Lys49Ile) | |
15 | g.31070164T>C | CA391537404 | TRPM1 | c.80A>G (p.Lys27Arg) c.197A>G (p.Lys66Arg) c.146A>G (p.Lys49Arg) | gnomAD v4 |
15 | g.31070164T>G | CA391537405 | TRPM1 | c.80A>C (p.Lys27Thr) c.197A>C (p.Lys66Thr) c.146A>C (p.Lys49Thr) | |
15 | g.31070165T>A | CA391537406 | TRPM1 | c.79A>T (p.Lys27Ter) c.196A>T (p.Lys66Ter) c.145A>T (p.Lys49Ter) | |
15 | g.31070165T>C | CA391537409 | TRPM1 | c.79A>G (p.Lys27Glu) c.196A>G (p.Lys66Glu) c.145A>G (p.Lys49Glu) | |
15 | g.31070165T>G | CA391537411 | TRPM1 | c.79A>C (p.Lys27Gln) c.196A>C (p.Lys66Gln) c.145A>C (p.Lys49Gln) | |
15 | g.31070166G>A | CA489644930 | TRPM1 | c.78C>T (p.Ser26=) c.195C>T (p.Ser65=) c.144C>T (p.Ser48=) | dbSNP gnomAD v2 |
15 | g.31070166G>C | CA391537415 | TRPM1 | c.78C>G (p.Ser26Arg) c.195C>G (p.Ser65Arg) c.144C>G (p.Ser48Arg) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070166G= | CA2167784177 | TRPM1 | c.78C= (p.Ser26=) c.195C= (p.Ser65=) c.144C= (p.Ser48=) | |
15 | g.31070166G>T | CA391537417 | TRPM1 | c.78C>A (p.Ser26Arg) c.195C>A (p.Ser65Arg) c.144C>A (p.Ser48Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070167C>A | CA391537421 | TRPM1 | c.77G>T (p.Ser26Ile) c.194G>T (p.Ser65Ile) c.143G>T (p.Ser48Ile) | |
15 | g.31070167C= | CA2167784178 | TRPM1 | c.77G= (p.Ser26=) c.194G= (p.Ser65=) c.143G= (p.Ser48=) | |
15 | g.31070167C>G | CA391537424 | TRPM1 | c.77G>C (p.Ser26Thr) c.194G>C (p.Ser65Thr) c.143G>C (p.Ser48Thr) | |
15 | g.31070167C>T | CA7453070 | TRPM1 | c.77G>A (p.Ser26Asn) c.194G>A (p.Ser65Asn) c.143G>A (p.Ser48Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070168T>A | CA391537428 | TRPM1 | c.76A>T (p.Ser26Cys) c.193A>T (p.Ser65Cys) c.142A>T (p.Ser48Cys) | |
15 | g.31070168T>C | CA391537430 | TRPM1 | c.76A>G (p.Ser26Gly) c.193A>G (p.Ser65Gly) c.142A>G (p.Ser48Gly) | dbSNP |
15 | g.31070168T>G | CA391537435 | TRPM1 | c.76A>C (p.Ser26Arg) c.193A>C (p.Ser65Arg) c.142A>C (p.Ser48Arg) | |
15 | g.31070168T= | CA2167784179 | TRPM1 | c.76A= (p.Ser26=) c.193A= (p.Ser65=) c.142A= (p.Ser48=) | |
15 | g.31070169G>A | CA489644932 | TRPM1 | c.75C>T (p.Pro25=) c.192C>T (p.Pro64=) c.141C>T (p.Pro47=) | dbSNP |
15 | g.31070169G>C | CA489644931 | TRPM1 | c.75C>G (p.Pro25=) c.192C>G (p.Pro64=) c.141C>G (p.Pro47=) | |
15 | g.31070169G= | CA2167784180 | TRPM1 | c.75C= (p.Pro25=) c.192C= (p.Pro64=) c.141C= (p.Pro47=) | |
15 | g.31070169G>T | CA489644933 | TRPM1 | c.75C>A (p.Pro25=) c.192C>A (p.Pro64=) c.141C>A (p.Pro47=) | gnomAD v3 gnomAD v4 |
15 | g.31070170G>A | CA391537436 | TRPM1 | c.74C>T (p.Pro25Leu) c.191C>T (p.Pro64Leu) c.140C>T (p.Pro47Leu) | |
15 | g.31070170G>C | CA391537440 | TRPM1 | c.74C>G (p.Pro25Arg) c.191C>G (p.Pro64Arg) c.140C>G (p.Pro47Arg) | |
15 | g.31070170G>T | CA391537444 | TRPM1 | c.74C>A (p.Pro25His) c.191C>A (p.Pro64His) c.140C>A (p.Pro47His) | gnomAD v3 gnomAD v4 |
15 | g.31070171G>A | CA391537447 | TRPM1 | c.73C>T (p.Pro25Ser) c.190C>T (p.Pro64Ser) c.139C>T (p.Pro47Ser) | |
15 | g.31070171G>C | CA391537450 | TRPM1 | c.73C>G (p.Pro25Ala) c.190C>G (p.Pro64Ala) c.139C>G (p.Pro47Ala) | |
15 | g.31070171G>T | CA391537453 | TRPM1 | c.73C>A (p.Pro25Thr) c.190C>A (p.Pro64Thr) c.139C>A (p.Pro47Thr) | |
15 | g.31070172T>A | CA489644935 | TRPM1 | c.72A>T (p.Thr24=) c.189A>T (p.Thr63=) c.138A>T (p.Thr46=) | |
15 | g.31070172T>C | CA7453071 | TRPM1 | c.72A>G (p.Thr24=) c.189A>G (p.Thr63=) c.138A>G (p.Thr46=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070172T>G | CA489644934 | TRPM1 | c.72A>C (p.Thr24=) c.189A>C (p.Thr63=) c.138A>C (p.Thr46=) | |
15 | g.31070172T= | CA2167784181 | TRPM1 | c.72A= (p.Thr24=) c.189A= (p.Thr63=) c.138A= (p.Thr46=) | |
15 | g.31070172dup | CA2627517266 | TRPM1 | c.72dup (p.Pro25ThrfsTer5) c.189dup (p.Pro64ThrfsTer5) c.138dup (p.Pro47ThrfsTer5) | gnomAD v4 |
15 | g.31070173G>A | CA391537463 | TRPM1 | c.71C>T (p.Thr24Ile) c.188C>T (p.Thr63Ile) c.137C>T (p.Thr46Ile) | gnomAD v4 |
15 | g.31070173G>C | CA391537459 | TRPM1 | c.71C>G (p.Thr24Arg) c.188C>G (p.Thr63Arg) c.137C>G (p.Thr46Arg) | |
15 | g.31070173G>T | CA391537465 | TRPM1 | c.71C>A (p.Thr24Lys) c.188C>A (p.Thr63Lys) c.137C>A (p.Thr46Lys) | |
15 | g.31070173dup | CA617553146 | TRPM1 | c.71dup (p.Pro25ThrfsTer5) c.188dup (p.Pro64ThrfsTer5) c.137dup (p.Pro47ThrfsTer5) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070174T>A | CA391537471 | TRPM1 | c.70A>T (p.Thr24Ser) c.187A>T (p.Thr63Ser) c.136A>T (p.Thr46Ser) | |
15 | g.31070174T>C | CA7453072 | TRPM1 | c.70A>G (p.Thr24Ala) c.187A>G (p.Thr63Ala) c.136A>G (p.Thr46Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070174T>G | CA391537475 | TRPM1 | c.70A>C (p.Thr24Pro) c.187A>C (p.Thr63Pro) c.136A>C (p.Thr46Pro) | |
15 | g.31070174T= | CA2167784182 | TRPM1 | c.70A= (p.Thr24=) c.187A= (p.Thr63=) c.136A= (p.Thr46=) | |
15 | g.31070175T>A | CA489644937 | TRPM1 | c.69A>T (p.Ala23=) c.186A>T (p.Ala62=) c.135A>T (p.Ala45=) | |
15 | g.31070175T>C | CA489644938 | TRPM1 | c.69A>G (p.Ala23=) c.186A>G (p.Ala62=) c.135A>G (p.Ala45=) | |
15 | g.31070175T>G | CA489644936 | TRPM1 | c.69A>C (p.Ala23=) c.186A>C (p.Ala62=) c.135A>C (p.Ala45=) | |
15 | g.31070176G>A | CA391537480 | TRPM1 | c.68C>T (p.Ala23Val) c.185C>T (p.Ala62Val) c.134C>T (p.Ala45Val) | ClinVar dbSNP |
15 | g.31070176G>C | CA391537482 | TRPM1 | c.68C>G (p.Ala23Gly) c.185C>G (p.Ala62Gly) c.134C>G (p.Ala45Gly) | |
15 | g.31070176G= | CA2167784183 | TRPM1 | c.68C= (p.Ala23=) c.185C= (p.Ala62=) c.134C= (p.Ala45=) | |
15 | g.31070176G>T | CA391537484 | TRPM1 | c.68C>A (p.Ala23Glu) c.185C>A (p.Ala62Glu) c.134C>A (p.Ala45Glu) | |
15 | g.31070177C>A | CA391537493 | TRPM1 | c.67G>T (p.Ala23Ser) c.184G>T (p.Ala62Ser) c.133G>T (p.Ala45Ser) | |
15 | g.31070177C= | CA2167784184 | TRPM1 | c.67G= (p.Ala23=) c.184G= (p.Ala62=) c.133G= (p.Ala45=) | |
15 | g.31070177C>G | CA7453073 | TRPM1 | c.67G>C (p.Ala23Pro) c.184G>C (p.Ala62Pro) c.133G>C (p.Ala45Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070177C>T | CA391537489 | TRPM1 | c.67G>A (p.Ala23Thr) c.184G>A (p.Ala62Thr) c.133G>A (p.Ala45Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070178A>C | CA391537496 | TRPM1 | c.66T>G (p.Ser22Arg) c.183T>G (p.Ser61Arg) c.132T>G (p.Ser44Arg) | |
15 | g.31070178A>G | CA489644939 | TRPM1 | c.66T>C (p.Ser22=) c.183T>C (p.Ser61=) c.132T>C (p.Ser44=) | |
15 | g.31070178A>T | CA391537499 | TRPM1 | c.66T>A (p.Ser22Arg) c.183T>A (p.Ser61Arg) c.132T>A (p.Ser44Arg) | gnomAD v4 COSMIC COSMIC |
15 | g.31070179C>A | CA391537505 | TRPM1 | c.65G>T (p.Ser22Ile) c.182G>T (p.Ser61Ile) c.131G>T (p.Ser44Ile) | |
15 | g.31070179C>G | CA391537507 | TRPM1 | c.65G>C (p.Ser22Thr) c.182G>C (p.Ser61Thr) c.131G>C (p.Ser44Thr) | |
15 | g.31070179C>T | CA391537511 | TRPM1 | c.65G>A (p.Ser22Asn) c.182G>A (p.Ser61Asn) c.131G>A (p.Ser44Asn) | ClinVar |
15 | g.31070180T>A | CA391537515 | TRPM1 | c.64A>T (p.Ser22Cys) c.181A>T (p.Ser61Cys) c.130A>T (p.Ser44Cys) | |
15 | g.31070180T>C | CA391537522 | TRPM1 | c.64A>G (p.Ser22Gly) c.181A>G (p.Ser61Gly) c.130A>G (p.Ser44Gly) | |
15 | g.31070180T>G | CA391537518 | TRPM1 | c.64A>C (p.Ser22Arg) c.181A>C (p.Ser61Arg) c.130A>C (p.Ser44Arg) | |
15 | g.31070181T>A | CA489644940 | TRPM1 | c.63A>T (p.Pro21=) c.180A>T (p.Pro60=) c.129A>T (p.Pro43=) | |
15 | g.31070181T>C | CA489644942 | TRPM1 | c.63A>G (p.Pro21=) c.180A>G (p.Pro60=) c.129A>G (p.Pro43=) | |
15 | g.31070181T>G | CA489644941 | TRPM1 | c.63A>C (p.Pro21=) c.180A>C (p.Pro60=) c.129A>C (p.Pro43=) | |
15 | g.31070182G>A | CA391537525 | TRPM1 | c.62C>T (p.Pro21Leu) c.179C>T (p.Pro60Leu) c.128C>T (p.Pro43Leu) | |
15 | g.31070182G>C | CA391537528 | TRPM1 | c.62C>G (p.Pro21Arg) c.179C>G (p.Pro60Arg) c.128C>G (p.Pro43Arg) | |
15 | g.31070182G>T | CA391537531 | TRPM1 | c.62C>A (p.Pro21Gln) c.179C>A (p.Pro60Gln) c.128C>A (p.Pro43Gln) | |
15 | g.31070183G>A | CA391537533 | TRPM1 | c.61C>T (p.Pro21Ser) c.178C>T (p.Pro60Ser) c.127C>T (p.Pro43Ser) | |
15 | g.31070183G>C | CA391537536 | TRPM1 | c.61C>G (p.Pro21Ala) c.178C>G (p.Pro60Ala) c.127C>G (p.Pro43Ala) | gnomAD v4 |
15 | g.31070183G>T | CA391537538 | TRPM1 | c.61C>A (p.Pro21Thr) c.178C>A (p.Pro60Thr) c.127C>A (p.Pro43Thr) | |
15 | g.31070184C>A | CA489644945 | TRPM1 | c.60G>T (p.Leu20=) c.177G>T (p.Leu59=) c.126G>T (p.Leu42=) | ClinVar dbSNP |
15 | g.31070184C>G | CA489644943 | TRPM1 | c.60G>C (p.Leu20=) c.177G>C (p.Leu59=) c.126G>C (p.Leu42=) | |
15 | g.31070184C>T | CA489644944 | TRPM1 | c.60G>A (p.Leu20=) c.177G>A (p.Leu59=) c.126G>A (p.Leu42=) | ClinVar dbSNP |
15 | g.31070185A= | CA2167784185 | TRPM1 | c.59T= (p.Leu20=) c.176T= (p.Leu59=) c.125T= (p.Leu42=) | |
15 | g.31070185A>C | CA391537544 | TRPM1 | c.59T>G (p.Leu20Arg) c.176T>G (p.Leu59Arg) c.125T>G (p.Leu42Arg) | |
15 | g.31070185A>G | CA391537545 | TRPM1 | c.59T>C (p.Leu20Pro) c.176T>C (p.Leu59Pro) c.125T>C (p.Leu42Pro) | |
15 | g.31070185A>T | CA391537548 | TRPM1 | c.59T>A (p.Leu20Gln) c.176T>A (p.Leu59Gln) c.125T>A (p.Leu42Gln) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070186G>A | CA489644946 | TRPM1 | c.58C>T (p.Leu20=) c.175C>T (p.Leu59=) c.124C>T (p.Leu42=) | |
15 | g.31070186G>C | CA391537551 | TRPM1 | c.58C>G (p.Leu20Val) c.175C>G (p.Leu59Val) c.124C>G (p.Leu42Val) | |
15 | g.31070186G>T | CA391537554 | TRPM1 | c.58C>A (p.Leu20Met) c.175C>A (p.Leu59Met) c.124C>A (p.Leu42Met) | |
15 | g.31070187A>C | CA489644948 | TRPM1 | c.57T>G (p.Pro19=) c.174T>G (p.Pro58=) c.123T>G (p.Pro41=) | |
15 | g.31070187A>G | CA489644947 | TRPM1 | c.57T>C (p.Pro19=) c.174T>C (p.Pro58=) c.123T>C (p.Pro41=) | |
15 | g.31070187A>T | CA489644949 | TRPM1 | c.57T>A (p.Pro19=) c.174T>A (p.Pro58=) c.123T>A (p.Pro41=) | |
15 | g.31070188G>A | CA391537563 | TRPM1 | c.56C>T (p.Pro19Leu) c.173C>T (p.Pro58Leu) c.122C>T (p.Pro41Leu) | |
15 | g.31070188G>C | CA391537561 | TRPM1 | c.56C>G (p.Pro19Arg) c.173C>G (p.Pro58Arg) c.122C>G (p.Pro41Arg) | dbSNP |
15 | g.31070188G>T | CA391537558 | TRPM1 | c.56C>A (p.Pro19His) c.173C>A (p.Pro58His) c.122C>A (p.Pro41His) | COSMIC |
15 | g.31070193dup | CA2842650108 | TRPM1 | c.56dup (p.Leu20SerfsTer10) c.173dup (p.Leu59SerfsTer10) c.122dup (p.Leu42SerfsTer10) | |
15 | g.31070193del | CA645580065 | TRPM1 | c.56del (p.Pro19LeufsTer?) c.173del (p.Pro58LeufsTer?) c.122del (p.Pro41LeufsTer?) | gnomAD v4 COSMIC COSMIC |
15 | g.31070189G>A | CA267502136 | TRPM1 | c.55C>T (p.Pro19Ser) c.172C>T (p.Pro58Ser) c.121C>T (p.Pro41Ser) | dbSNP |
15 | g.31070189G>C | CA7453074 | TRPM1 | c.55C>G (p.Pro19Ala) c.172C>G (p.Pro58Ala) c.121C>G (p.Pro41Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070189G= | CA2167784186 | TRPM1 | c.55C= (p.Pro19=) c.172C= (p.Pro58=) c.121C= (p.Pro41=) | |
15 | g.31070189G>T | CA267502145 | TRPM1 | c.55C>A (p.Pro19Thr) c.172C>A (p.Pro58Thr) c.121C>A (p.Pro41Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070190G>A | CA489644951 | TRPM1 | c.54C>T (p.Pro18=) c.171C>T (p.Pro57=) c.120C>T (p.Pro40=) | gnomAD v4 |
15 | g.31070190G>C | CA489644952 | TRPM1 | c.54C>G (p.Pro18=) c.171C>G (p.Pro57=) c.120C>G (p.Pro40=) | gnomAD v4 |
15 | g.31070190G>T | CA489644950 | TRPM1 | c.54C>A (p.Pro18=) c.171C>A (p.Pro57=) c.120C>A (p.Pro40=) | |
15 | g.31070191G>A | CA391537577 | TRPM1 | c.53C>T (p.Pro18Leu) c.170C>T (p.Pro57Leu) c.119C>T (p.Pro40Leu) | |
15 | g.31070191G>C | CA391537580 | TRPM1 | c.53C>G (p.Pro18Arg) c.170C>G (p.Pro57Arg) c.119C>G (p.Pro40Arg) | gnomAD v4 |
15 | g.31070191G= | CA2167784187 | TRPM1 | c.53C= (p.Pro18=) c.170C= (p.Pro57=) c.119C= (p.Pro40=) | |
15 | g.31070191G>T | CA391537582 | TRPM1 | c.53C>A (p.Pro18His) c.170C>A (p.Pro57His) c.119C>A (p.Pro40His) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070192G>A | CA391537587 | TRPM1 | c.52C>T (p.Pro18Ser) c.169C>T (p.Pro57Ser) c.118C>T (p.Pro40Ser) | dbSNP gnomAD v4 |
15 | g.31070192G>C | CA391537589 | TRPM1 | c.52C>G (p.Pro18Ala) c.169C>G (p.Pro57Ala) c.118C>G (p.Pro40Ala) | |
15 | g.31070192G= | CA2167784188 | TRPM1 | c.52C= (p.Pro18=) c.169C= (p.Pro57=) c.118C= (p.Pro40=) | |
15 | g.31070192G>T | CA391537592 | TRPM1 | c.52C>A (p.Pro18Thr) c.169C>A (p.Pro57Thr) c.118C>A (p.Pro40Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070193G>A | CA7453075 | TRPM1 | c.51C>T (p.Ile17=) c.168C>T (p.Ile56=) c.117C>T (p.Ile39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070193G>C | CA391537596 | TRPM1 | c.51C>G (p.Ile17Met) c.168C>G (p.Ile56Met) c.117C>G (p.Ile39Met) | |
15 | g.31070193G= | CA2167784189 | TRPM1 | c.51C= (p.Ile17=) c.168C= (p.Ile56=) c.117C= (p.Ile39=) | |
15 | g.31070193G>T | CA489644953 | TRPM1 | c.51C>A (p.Ile17=) c.168C>A (p.Ile56=) c.117C>A (p.Ile39=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070194A>C | CA391537600 | TRPM1 | c.50T>G (p.Ile17Ser) c.167T>G (p.Ile56Ser) c.116T>G (p.Ile39Ser) | |
15 | g.31070194A>G | CA391537603 | TRPM1 | c.50T>C (p.Ile17Thr) c.167T>C (p.Ile56Thr) c.116T>C (p.Ile39Thr) | |
15 | g.31070194A>T | CA391537606 | TRPM1 | c.50T>A (p.Ile17Asn) c.167T>A (p.Ile56Asn) c.116T>A (p.Ile39Asn) | |
15 | g.31070194dup | CA2627517267 | TRPM1 | c.50dup (p.Leu20SerfsTer10) c.167dup (p.Leu59SerfsTer10) c.116dup (p.Leu42SerfsTer10) | gnomAD v4 |
15 | g.31070196_31070197del | CA2505780669 | TRPM1 | c.49_50del (p.Ile17ProfsTer12) c.166_167del (p.Ile56ProfsTer12) c.115_116del (p.Ile39ProfsTer12) | gnomAD v4 |
15 | g.31070195T>A | CA391537615 | TRPM1 | c.49A>T (p.Ile17Phe) c.166A>T (p.Ile56Phe) c.115A>T (p.Ile39Phe) | |
15 | g.31070195T>C | CA391537610 | TRPM1 | c.49A>G (p.Ile17Val) c.166A>G (p.Ile56Val) c.115A>G (p.Ile39Val) | dbSNP |
15 | g.31070195T>G | CA391537612 | TRPM1 | c.49A>C (p.Ile17Leu) c.166A>C (p.Ile56Leu) c.115A>C (p.Ile39Leu) | |
15 | g.31070195T= | CA2167784190 | TRPM1 | c.49A= (p.Ile17=) c.166A= (p.Ile56=) c.115A= (p.Ile39=) | |
15 | g.31070196A>C | CA391537618 | TRPM1 | c.48T>G (p.His16Gln) c.165T>G (p.His55Gln) c.114T>G (p.His38Gln) | |
15 | g.31070196A>G | CA489644954 | TRPM1 | c.48T>C (p.His16=) c.165T>C (p.His55=) c.114T>C (p.His38=) | |
15 | g.31070196A>T | CA391537621 | TRPM1 | c.48T>A (p.His16Gln) c.165T>A (p.His55Gln) c.114T>A (p.His38Gln) | |
15 | g.31070197T>A | CA391537626 | TRPM1 | c.47A>T (p.His16Leu) c.164A>T (p.His55Leu) c.113A>T (p.His38Leu) | |
15 | g.31070197T>C | CA391537627 | TRPM1 | c.47A>G (p.His16Arg) c.164A>G (p.His55Arg) c.113A>G (p.His38Arg) | dbSNP gnomAD v4 |
15 | g.31070197T>G | CA391537630 | TRPM1 | c.47A>C (p.His16Pro) c.164A>C (p.His55Pro) c.113A>C (p.His38Pro) | gnomAD v4 |
15 | g.31070197T= | CA2167784191 | TRPM1 | c.47A= (p.His16=) c.164A= (p.His55=) c.113A= (p.His38=) | |
15 | g.31070198G>A | CA391537634 | TRPM1 | c.46C>T (p.His16Tyr) c.163C>T (p.His55Tyr) c.112C>T (p.His38Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070198G>C | CA391537637 | TRPM1 | c.46C>G (p.His16Asp) c.163C>G (p.His55Asp) c.112C>G (p.His38Asp) | dbSNP |
15 | g.31070198G= | CA2167784192 | TRPM1 | c.46C= (p.His16=) c.163C= (p.His55=) c.112C= (p.His38=) | |
15 | g.31070198G>T | CA391537640 | TRPM1 | c.46C>A (p.His16Asn) c.163C>A (p.His55Asn) c.112C>A (p.His38Asn) | |
15 | g.31070199C>A | CA391537644 | TRPM1 | c.45G>T (p.Gln15His) c.162G>T (p.Gln54His) c.111G>T (p.Gln37His) | ClinVar dbSNP |
15 | g.31070199C= | CA2167784193 | TRPM1 | c.45G= (p.Gln15=) c.162G= (p.Gln54=) c.111G= (p.Gln37=) | |
15 | g.31070199C>G | CA391537647 | TRPM1 | c.45G>C (p.Gln15His) c.162G>C (p.Gln54His) c.111G>C (p.Gln37His) | |
15 | g.31070199C>T | CA489644955 | TRPM1 | c.45G>A (p.Gln15=) c.162G>A (p.Gln54=) c.111G>A (p.Gln37=) | |
15 | g.31070200T>A | CA391537650 | TRPM1 | c.44A>T (p.Gln15Leu) c.161A>T (p.Gln54Leu) c.110A>T (p.Gln37Leu) | |
15 | g.31070200T>C | CA391537653 | TRPM1 | c.44A>G (p.Gln15Arg) c.161A>G (p.Gln54Arg) c.110A>G (p.Gln37Arg) | |
15 | g.31070200T>G | CA391537657 | TRPM1 | c.44A>C (p.Gln15Pro) c.161A>C (p.Gln54Pro) c.110A>C (p.Gln37Pro) |