| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69941230C>A | CA2666480222 | MITF | c.619-6C>A (n.619-6C>A) c.616-6C>A (n.616-6C>A) n.841-6C>A c.592-6C>A (n.592-6C>A) c.667-6C>A (n.667-6C>A) c.346-6C>A (n.346-6C>A) c.664-6C>A (n.664-6C>A) c.343-6C>A (n.343-6C>A) n.657-6C>A c.511-6C>A (n.511-6C>A) c.311-6C>A (n.311-6C>A) c.178-6C>A (n.178-6C>A) c.499-6C>A (n.499-6C>A) | gnomAD v4 |
| 3 | g.69941230C= | CA1373433825 | MITF | c.619-6C= (n.619-6C=) c.616-6C= (n.616-6C=) n.841-6C= c.592-6C= (n.592-6C=) c.667-6C= (n.667-6C=) c.346-6C= (n.346-6C=) c.664-6C= (n.664-6C=) c.343-6C= (n.343-6C=) n.657-6C= c.511-6C= (n.511-6C=) c.311-6C= (n.311-6C=) c.178-6C= (n.178-6C=) c.499-6C= (n.499-6C=) | |
| 3 | g.69941230C>T | CA909882542 | MITF | c.619-6C>T (n.619-6C>T) c.616-6C>T (n.616-6C>T) n.841-6C>T c.592-6C>T (n.592-6C>T) c.667-6C>T (n.667-6C>T) c.346-6C>T (n.346-6C>T) c.664-6C>T (n.664-6C>T) c.343-6C>T (n.343-6C>T) n.657-6C>T c.511-6C>T (n.511-6C>T) c.311-6C>T (n.311-6C>T) c.178-6C>T (n.178-6C>T) c.499-6C>T (n.499-6C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69941231T>C | CA2666480223 | MITF | c.619-5T>C (n.619-5T>C) c.616-5T>C (n.616-5T>C) n.841-5T>C c.592-5T>C (n.592-5T>C) c.667-5T>C (n.667-5T>C) c.346-5T>C (n.346-5T>C) c.664-5T>C (n.664-5T>C) c.343-5T>C (n.343-5T>C) n.657-5T>C c.511-5T>C (n.511-5T>C) c.311-5T>C (n.311-5T>C) c.178-5T>C (n.178-5T>C) c.499-5T>C (n.499-5T>C) | gnomAD v4 |
| 3 | g.69941233C>A | CA2666480224 | MITF | c.619-3C>A (n.619-3C>A) c.616-3C>A (n.616-3C>A) n.841-3C>A c.592-3C>A (n.592-3C>A) c.667-3C>A (n.667-3C>A) c.346-3C>A (n.346-3C>A) c.664-3C>A (n.664-3C>A) c.343-3C>A (n.343-3C>A) n.657-3C>A c.511-3C>A (n.511-3C>A) c.311-3C>A (n.311-3C>A) c.178-3C>A (n.178-3C>A) c.499-3C>A (n.499-3C>A) | gnomAD v4 |
| 3 | g.69941233C= | CA1373433827 | MITF | c.619-3C= (n.619-3C=) c.616-3C= (n.616-3C=) n.841-3C= c.592-3C= (n.592-3C=) c.667-3C= (n.667-3C=) c.346-3C= (n.346-3C=) c.664-3C= (n.664-3C=) c.343-3C= (n.343-3C=) n.657-3C= c.511-3C= (n.511-3C=) c.311-3C= (n.311-3C=) c.178-3C= (n.178-3C=) c.499-3C= (n.499-3C=) | |
| 3 | g.69941233C>T | CA2490436 | MITF | c.619-3C>T (n.619-3C>T) c.616-3C>T (n.616-3C>T) n.841-3C>T c.592-3C>T (n.592-3C>T) c.667-3C>T (n.667-3C>T) c.346-3C>T (n.346-3C>T) c.664-3C>T (n.664-3C>T) c.343-3C>T (n.343-3C>T) n.657-3C>T c.511-3C>T (n.511-3C>T) c.311-3C>T (n.311-3C>T) c.178-3C>T (n.178-3C>T) c.499-3C>T (n.499-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69941234A= | CA1373433830 | MITF | c.619-2A= (n.619-2A=) c.616-2A= (n.616-2A=) n.841-2A= c.592-2A= (n.592-2A=) c.667-2A= (n.667-2A=) c.346-2A= (n.346-2A=) c.664-2A= (n.664-2A=) c.343-2A= (n.343-2A=) n.657-2A= c.511-2A= (n.511-2A=) c.311-2A= (n.311-2A=) c.178-2A= (n.178-2A=) c.499-2A= (n.499-2A=) | |
| 3 | g.69941234A>C | CA353561006 | MITF | c.619-2A>C (n.619-2A>C) c.616-2A>C (n.616-2A>C) n.841-2A>C c.592-2A>C (n.592-2A>C) c.667-2A>C (n.667-2A>C) c.346-2A>C (n.346-2A>C) c.664-2A>C (n.664-2A>C) c.343-2A>C (n.343-2A>C) n.657-2A>C c.511-2A>C (n.511-2A>C) c.311-2A>C (n.311-2A>C) c.178-2A>C (n.178-2A>C) c.499-2A>C (n.499-2A>C) | |
| 3 | g.69941234A>G | CA353561007 | MITF | c.619-2A>G (n.619-2A>G) c.616-2A>G (n.616-2A>G) n.841-2A>G c.592-2A>G (n.592-2A>G) c.667-2A>G (n.667-2A>G) c.346-2A>G (n.346-2A>G) c.664-2A>G (n.664-2A>G) c.343-2A>G (n.343-2A>G) n.657-2A>G c.511-2A>G (n.511-2A>G) c.311-2A>G (n.311-2A>G) c.178-2A>G (n.178-2A>G) c.499-2A>G (n.499-2A>G) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69941234A>T | CA353561008 | MITF | c.619-2A>T (n.619-2A>T) c.616-2A>T (n.616-2A>T) n.841-2A>T c.592-2A>T (n.592-2A>T) c.667-2A>T (n.667-2A>T) c.346-2A>T (n.346-2A>T) c.664-2A>T (n.664-2A>T) c.343-2A>T (n.343-2A>T) n.657-2A>T c.511-2A>T (n.511-2A>T) c.311-2A>T (n.311-2A>T) c.178-2A>T (n.178-2A>T) c.499-2A>T (n.499-2A>T) | |
| 3 | g.69941235G>A | CA353561011 | MITF | c.619-1G>A (n.619-1G>A) c.616-1G>A (n.616-1G>A) n.841-1G>A c.592-1G>A (n.592-1G>A) c.667-1G>A (n.667-1G>A) c.346-1G>A (n.346-1G>A) c.664-1G>A (n.664-1G>A) c.343-1G>A (n.343-1G>A) n.657-1G>A c.511-1G>A (n.511-1G>A) c.311-1G>A (n.311-1G>A) c.178-1G>A (n.178-1G>A) c.499-1G>A (n.499-1G>A) | |
| 3 | g.69941235G>C | CA353561010 | MITF | c.619-1G>C (n.619-1G>C) c.616-1G>C (n.616-1G>C) n.841-1G>C c.592-1G>C (n.592-1G>C) c.667-1G>C (n.667-1G>C) c.346-1G>C (n.346-1G>C) c.664-1G>C (n.664-1G>C) c.343-1G>C (n.343-1G>C) n.657-1G>C c.511-1G>C (n.511-1G>C) c.311-1G>C (n.311-1G>C) c.178-1G>C (n.178-1G>C) c.499-1G>C (n.499-1G>C) | |
| 3 | g.69941235G>T | CA353561009 | MITF | c.619-1G>T (n.619-1G>T) c.616-1G>T (n.616-1G>T) n.841-1G>T c.592-1G>T (n.592-1G>T) c.667-1G>T (n.667-1G>T) c.346-1G>T (n.346-1G>T) c.664-1G>T (n.664-1G>T) c.343-1G>T (n.343-1G>T) n.657-1G>T c.511-1G>T (n.511-1G>T) c.311-1G>T (n.311-1G>T) c.178-1G>T (n.178-1G>T) c.499-1G>T (n.499-1G>T) | |
| 3 | g.69941236A= | CA1373433832 | MITF | c.619A= (p.Met207=) c.616A= (p.Met206=) n.841A= c.592A= (p.Met198=) c.667A= (p.Met223=) c.346A= (p.Met116=) c.664A= (p.Met222=) c.343A= (p.Met115=) n.657A= c.511A= (p.Met171=) c.311A= (p.Asp104=) c.178A= (p.Met60=) c.499A= (p.Met167=) | |
| 3 | g.69941236A>C | CA353561012 | MITF | c.619A>C (p.Met207Leu) c.616A>C (p.Met206Leu) n.841A>C c.592A>C (p.Met198Leu) c.667A>C (p.Met223Leu) c.346A>C (p.Met116Leu) c.664A>C (p.Met222Leu) c.343A>C (p.Met115Leu) n.657A>C c.511A>C (p.Met171Leu) c.311A>C (p.Asp104Ala) c.178A>C (p.Met60Leu) c.499A>C (p.Met167Leu) | |
| 3 | g.69941236A>G | CA77000889 | MITF | c.619A>G (p.Met207Val) c.616A>G (p.Met206Val) n.841A>G c.592A>G (p.Met198Val) c.667A>G (p.Met223Val) c.346A>G (p.Met116Val) c.664A>G (p.Met222Val) c.343A>G (p.Met115Val) n.657A>G c.511A>G (p.Met171Val) c.311A>G (p.Asp104Gly) c.178A>G (p.Met60Val) c.499A>G (p.Met167Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.69941236A>T | CA353561013 | MITF | c.619A>T (p.Met207Leu) c.616A>T (p.Met206Leu) n.841A>T c.592A>T (p.Met198Leu) c.667A>T (p.Met223Leu) c.346A>T (p.Met116Leu) c.664A>T (p.Met222Leu) c.343A>T (p.Met115Leu) n.657A>T c.511A>T (p.Met171Leu) c.311A>T (p.Asp104Val) c.178A>T (p.Met60Leu) c.499A>T (p.Met167Leu) | dbSNP |
| 3 | g.69941237T>A | CA353561014 | MITF | c.620T>A (p.Met207Lys) c.617T>A (p.Met206Lys) n.842T>A c.593T>A (p.Met198Lys) c.668T>A (p.Met223Lys) c.347T>A (p.Met116Lys) c.665T>A (p.Met222Lys) c.344T>A (p.Met115Lys) n.658T>A c.512T>A (p.Met171Lys) c.312T>A (p.Asp104Glu) c.179T>A (p.Met60Lys) c.500T>A (p.Met167Lys) | |
| 3 | g.69941237T>C | CA353561015 | MITF | c.620T>C (p.Met207Thr) c.617T>C (p.Met206Thr) n.842T>C c.593T>C (p.Met198Thr) c.668T>C (p.Met223Thr) c.347T>C (p.Met116Thr) c.665T>C (p.Met222Thr) c.344T>C (p.Met115Thr) n.658T>C c.512T>C (p.Met171Thr) c.312T>C (p.Asp104=) c.179T>C (p.Met60Thr) c.500T>C (p.Met167Thr) | |
| 3 | g.69941237T>G | CA353561016 | MITF | c.620T>G (p.Met207Arg) c.617T>G (p.Met206Arg) n.842T>G c.593T>G (p.Met198Arg) c.668T>G (p.Met223Arg) c.347T>G (p.Met116Arg) c.665T>G (p.Met222Arg) c.344T>G (p.Met115Arg) n.658T>G c.512T>G (p.Met171Arg) c.312T>G (p.Asp104Glu) c.179T>G (p.Met60Arg) c.500T>G (p.Met167Arg) | |
| 3 | g.69941238G>A | CA77000890 | MITF | c.621G>A (p.Met207Ile) c.618G>A (p.Met206Ile) n.843G>A c.594G>A (p.Met198Ile) c.669G>A (p.Met223Ile) c.348G>A (p.Met116Ile) c.666G>A (p.Met222Ile) c.345G>A (p.Met115Ile) n.659G>A c.513G>A (p.Met171Ile) c.313G>A (p.Gly105Arg) c.180G>A (p.Met60Ile) c.501G>A (p.Met167Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.69941238G>C | CA353561017 | MITF | c.621G>C (p.Met207Ile) c.618G>C (p.Met206Ile) n.843G>C c.594G>C (p.Met198Ile) c.669G>C (p.Met223Ile) c.348G>C (p.Met116Ile) c.666G>C (p.Met222Ile) c.345G>C (p.Met115Ile) n.659G>C c.513G>C (p.Met171Ile) c.313G>C (p.Gly105Arg) c.180G>C (p.Met60Ile) c.501G>C (p.Met167Ile) | |
| 3 | g.69941238G= | CA1373433835 | MITF | c.621G= (p.Met207=) c.618G= (p.Met206=) n.843G= c.594G= (p.Met198=) c.669G= (p.Met223=) c.348G= (p.Met116=) c.666G= (p.Met222=) c.345G= (p.Met115=) n.659G= c.513G= (p.Met171=) c.313G= (p.Gly105=) c.180G= (p.Met60=) c.501G= (p.Met167=) | |
| 3 | g.69941238G>T | CA353561018 | MITF | c.621G>T (p.Met207Ile) c.618G>T (p.Met206Ile) n.843G>T c.594G>T (p.Met198Ile) c.669G>T (p.Met223Ile) c.348G>T (p.Met116Ile) c.666G>T (p.Met222Ile) c.345G>T (p.Met115Ile) n.659G>T c.513G>T (p.Met171Ile) c.313G>T (p.Gly105Ter) c.180G>T (p.Met60Ile) c.501G>T (p.Met167Ile) | |
| 3 | g.69941239del | CA3054203106 | MITF | c.622del (p.Asp208MetfsTer3) c.619del (p.Asp207MetfsTer3) n.844del c.595del (p.Asp199MetfsTer3) c.670del (p.Asp224MetfsTer3) c.349del (p.Asp117MetfsTer3) c.667del (p.Asp223MetfsTer3) c.346del (p.Asp116MetfsTer3) n.660del c.514del (p.Asp172MetfsTer3) c.314del (p.Gly105AspfsTer?) c.181del (p.Asp61MetfsTer3) c.502del (p.Asp168MetfsTer3) | |
| 3 | g.69941239G>A | CA353561019 | MITF | c.622G>A (p.Asp208Asn) c.619G>A (p.Asp207Asn) n.844G>A c.595G>A (p.Asp199Asn) c.670G>A (p.Asp224Asn) c.349G>A (p.Asp117Asn) c.667G>A (p.Asp223Asn) c.346G>A (p.Asp116Asn) n.660G>A c.514G>A (p.Asp172Asn) c.314G>A (p.Gly105Glu) c.181G>A (p.Asp61Asn) c.502G>A (p.Asp168Asn) | |
| 3 | g.69941239G>C | CA353561020 | MITF | c.622G>C (p.Asp208His) c.619G>C (p.Asp207His) n.844G>C c.595G>C (p.Asp199His) c.670G>C (p.Asp224His) c.349G>C (p.Asp117His) c.667G>C (p.Asp223His) c.346G>C (p.Asp116His) n.660G>C c.514G>C (p.Asp172His) c.314G>C (p.Gly105Ala) c.181G>C (p.Asp61His) c.502G>C (p.Asp168His) | |
| 3 | g.69941239G>T | CA353561021 | MITF | c.622G>T (p.Asp208Tyr) c.619G>T (p.Asp207Tyr) n.844G>T c.595G>T (p.Asp199Tyr) c.670G>T (p.Asp224Tyr) c.349G>T (p.Asp117Tyr) c.667G>T (p.Asp223Tyr) c.346G>T (p.Asp116Tyr) n.660G>T c.514G>T (p.Asp172Tyr) c.314G>T (p.Gly105Val) c.181G>T (p.Asp61Tyr) c.502G>T (p.Asp168Tyr) | |
| 3 | g.69941240A= | CA1373433837 | MITF | c.623A= (p.Asp208=) c.620A= (p.Asp207=) n.845A= c.596A= (p.Asp199=) c.671A= (p.Asp224=) c.350A= (p.Asp117=) c.668A= (p.Asp223=) c.347A= (p.Asp116=) n.661A= c.515A= (p.Asp172=) c.315A= (p.Gly105=) c.182A= (p.Asp61=) c.503A= (p.Asp168=) | |
| 3 | g.69941240A>C | CA353561024 | MITF | c.623A>C (p.Asp208Ala) c.620A>C (p.Asp207Ala) n.845A>C c.596A>C (p.Asp199Ala) c.671A>C (p.Asp224Ala) c.350A>C (p.Asp117Ala) c.668A>C (p.Asp223Ala) c.347A>C (p.Asp116Ala) n.661A>C c.515A>C (p.Asp172Ala) c.315A>C (p.Gly105=) c.182A>C (p.Asp61Ala) c.503A>C (p.Asp168Ala) | |
| 3 | g.69941240A>G | CA353561023 | MITF | c.623A>G (p.Asp208Gly) c.620A>G (p.Asp207Gly) n.845A>G c.596A>G (p.Asp199Gly) c.671A>G (p.Asp224Gly) c.350A>G (p.Asp117Gly) c.668A>G (p.Asp223Gly) c.347A>G (p.Asp116Gly) n.661A>G c.515A>G (p.Asp172Gly) c.315A>G (p.Gly105=) c.182A>G (p.Asp61Gly) c.503A>G (p.Asp168Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69941240A>T | CA353561022 | MITF | c.623A>T (p.Asp208Val) c.620A>T (p.Asp207Val) n.845A>T c.596A>T (p.Asp199Val) c.671A>T (p.Asp224Val) c.350A>T (p.Asp117Val) c.668A>T (p.Asp223Val) c.347A>T (p.Asp116Val) n.661A>T c.515A>T (p.Asp172Val) c.315A>T (p.Gly105=) c.182A>T (p.Asp61Val) c.503A>T (p.Asp168Val) | |
| 3 | g.69941241T>A | CA353561025 | MITF | c.624T>A (p.Asp208Glu) c.621T>A (p.Asp207Glu) n.846T>A c.597T>A (p.Asp199Glu) c.672T>A (p.Asp224Glu) c.351T>A (p.Asp117Glu) c.669T>A (p.Asp223Glu) c.348T>A (p.Asp116Glu) n.662T>A c.516T>A (p.Asp172Glu) c.316T>A (p.Ter106Arg) c.183T>A (p.Asp61Glu) c.504T>A (p.Asp168Glu) | |
| 3 | g.69941241T>C | CA434305655 | MITF | c.624T>C (p.Asp208=) c.621T>C (p.Asp207=) n.846T>C c.597T>C (p.Asp199=) c.672T>C (p.Asp224=) c.351T>C (p.Asp117=) c.669T>C (p.Asp223=) c.348T>C (p.Asp116=) n.662T>C c.516T>C (p.Asp172=) c.316T>C (p.Ter106Arg) c.183T>C (p.Asp61=) c.504T>C (p.Asp168=) | |
| 3 | g.69941241T>G | CA353561026 | MITF | c.624T>G (p.Asp208Glu) c.621T>G (p.Asp207Glu) n.846T>G c.597T>G (p.Asp199Glu) c.672T>G (p.Asp224Glu) c.351T>G (p.Asp117Glu) c.669T>G (p.Asp223Glu) c.348T>G (p.Asp116Glu) n.662T>G c.516T>G (p.Asp172Glu) c.316T>G (p.Ter106Gly) c.183T>G (p.Asp61Glu) c.504T>G (p.Asp168Glu) | |
| 3 | g.69941242del | CA3054203107 | MITF | c.625del (p.Asp209MetfsTer2) c.622del (p.Asp208MetfsTer2) n.847del c.598del (p.Asp200MetfsTer2) c.673del (p.Asp225MetfsTer2) c.352del (p.Asp118MetfsTer2) c.670del (p.Asp224MetfsTer2) c.349del (p.Asp117MetfsTer2) n.663del c.517del (p.Asp173MetfsTer2) c.317del (p.Ter106TyrextTer?) c.184del (p.Asp62MetfsTer2) c.505del (p.Asp169MetfsTer2) | |
| 3 | g.69941242G>A | CA353561027 | MITF | c.625G>A (p.Asp209Asn) c.622G>A (p.Asp208Asn) n.847G>A c.598G>A (p.Asp200Asn) c.673G>A (p.Asp225Asn) c.352G>A (p.Asp118Asn) c.670G>A (p.Asp224Asn) c.349G>A (p.Asp117Asn) n.663G>A c.517G>A (p.Asp173Asn) c.317G>A (p.Ter106=) c.184G>A (p.Asp62Asn) c.505G>A (p.Asp169Asn) | |
| 3 | g.69941242G>C | CA353561028 | MITF | c.625G>C (p.Asp209His) c.622G>C (p.Asp208His) n.847G>C c.598G>C (p.Asp200His) c.673G>C (p.Asp225His) c.352G>C (p.Asp118His) c.670G>C (p.Asp224His) c.349G>C (p.Asp117His) n.663G>C c.517G>C (p.Asp173His) c.317G>C (p.Ter106Ser) c.184G>C (p.Asp62His) c.505G>C (p.Asp169His) | |
| 3 | g.69941242G>T | CA353561029 | MITF | c.625G>T (p.Asp209Tyr) c.622G>T (p.Asp208Tyr) n.847G>T c.598G>T (p.Asp200Tyr) c.673G>T (p.Asp225Tyr) c.352G>T (p.Asp118Tyr) c.670G>T (p.Asp224Tyr) c.349G>T (p.Asp117Tyr) n.663G>T c.517G>T (p.Asp173Tyr) c.317G>T (p.Ter106Leu) c.184G>T (p.Asp62Tyr) c.505G>T (p.Asp169Tyr) | |
| 3 | g.69941243A= | CA1373433839 | MITF | c.626A= (p.Asp209=) c.623A= (p.Asp208=) n.848A= c.599A= (p.Asp200=) c.674A= (p.Asp225=) c.353A= (p.Asp118=) c.671A= (p.Asp224=) c.350A= (p.Asp117=) n.664A= c.518A= (p.Asp173=) c.318A= (p.Ter106=) c.185A= (p.Asp62=) c.506A= (p.Asp169=) | |
| 3 | g.69941243A>C | CA353561030 | MITF | c.626A>C (p.Asp209Ala) c.623A>C (p.Asp208Ala) n.848A>C c.599A>C (p.Asp200Ala) c.674A>C (p.Asp225Ala) c.353A>C (p.Asp118Ala) c.671A>C (p.Asp224Ala) c.350A>C (p.Asp117Ala) n.664A>C c.518A>C (p.Asp173Ala) c.318A>C (p.Ter106Cys) c.185A>C (p.Asp62Ala) c.506A>C (p.Asp169Ala) | dbSNP |
| 3 | g.69941243A>G | CA2490437 | MITF | c.626A>G (p.Asp209Gly) c.623A>G (p.Asp208Gly) n.848A>G c.599A>G (p.Asp200Gly) c.674A>G (p.Asp225Gly) c.353A>G (p.Asp118Gly) c.671A>G (p.Asp224Gly) c.350A>G (p.Asp117Gly) n.664A>G c.518A>G (p.Asp173Gly) c.318A>G (p.Ter106Trp) c.185A>G (p.Asp62Gly) c.506A>G (p.Asp169Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69941243A>T | CA353561031 | MITF | c.626A>T (p.Asp209Val) c.623A>T (p.Asp208Val) n.848A>T c.599A>T (p.Asp200Val) c.674A>T (p.Asp225Val) c.353A>T (p.Asp118Val) c.671A>T (p.Asp224Val) c.350A>T (p.Asp117Val) n.664A>T c.518A>T (p.Asp173Val) c.318A>T (p.Ter106Cys) c.185A>T (p.Asp62Val) c.506A>T (p.Asp169Val) | |
| 3 | g.69941244T>A | CA2490438 | MITF | c.627T>A (p.Asp209Glu) c.624T>A (p.Asp208Glu) n.849T>A c.600T>A (p.Asp200Glu) c.675T>A (p.Asp225Glu) c.354T>A (p.Asp118Glu) c.672T>A (p.Asp224Glu) c.351T>A (p.Asp117Glu) n.665T>A c.519T>A (p.Asp173Glu) c.*1T>A (n.*1T>A) c.186T>A (p.Asp62Glu) c.507T>A (p.Asp169Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69941244T>C | CA434305656 | MITF | c.627T>C (p.Asp209=) c.624T>C (p.Asp208=) n.849T>C c.600T>C (p.Asp200=) c.675T>C (p.Asp225=) c.354T>C (p.Asp118=) c.672T>C (p.Asp224=) c.351T>C (p.Asp117=) n.665T>C c.519T>C (p.Asp173=) c.*1T>C (n.*1T>C) c.186T>C (p.Asp62=) c.507T>C (p.Asp169=) | |
| 3 | g.69941244T>G | CA353561032 | MITF | c.627T>G (p.Asp209Glu) c.624T>G (p.Asp208Glu) n.849T>G c.600T>G (p.Asp200Glu) c.675T>G (p.Asp225Glu) c.354T>G (p.Asp118Glu) c.672T>G (p.Asp224Glu) c.351T>G (p.Asp117Glu) n.665T>G c.519T>G (p.Asp173Glu) c.*1T>G (n.*1T>G) c.186T>G (p.Asp62Glu) c.507T>G (p.Asp169Glu) | |
| 3 | g.69941244T= | CA1373433840 | MITF | c.627T= (p.Asp209=) c.624T= (p.Asp208=) n.849T= c.600T= (p.Asp200=) c.675T= (p.Asp225=) c.354T= (p.Asp118=) c.672T= (p.Asp224=) c.351T= (p.Asp117=) n.665T= c.519T= (p.Asp173=) c.*1T= (n.*1T=) c.186T= (p.Asp62=) c.507T= (p.Asp169=) | |
| 3 | g.69941245G>A | CA353561033 | MITF | c.628G>A (p.Val210Ile) c.625G>A (p.Val209Ile) n.850G>A c.601G>A (p.Val201Ile) c.676G>A (p.Val226Ile) c.355G>A (p.Val119Ile) c.673G>A (p.Val225Ile) c.352G>A (p.Val118Ile) n.666G>A c.520G>A (p.Val174Ile) c.*2G>A (n.*2G>A) c.187G>A (p.Val63Ile) c.508G>A (p.Val170Ile) | |
| 3 | g.69941245G>C | CA353561034 | MITF | c.628G>C (p.Val210Leu) c.625G>C (p.Val209Leu) n.850G>C c.601G>C (p.Val201Leu) c.676G>C (p.Val226Leu) c.355G>C (p.Val119Leu) c.673G>C (p.Val225Leu) c.352G>C (p.Val118Leu) n.666G>C c.520G>C (p.Val174Leu) c.*2G>C (n.*2G>C) c.187G>C (p.Val63Leu) c.508G>C (p.Val170Leu) |