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