| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |