| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69949082A= | CA1373440645 | MITF | c.746A= (p.Tyr249=) c.743A= (p.Tyr248=) n.968A= c.719A= (p.Tyr240=) c.794A= (p.Tyr265=) c.473A= (p.Tyr158=) c.791A= (p.Tyr264=) c.470A= (p.Tyr157=) c.638A= (p.Tyr213=) c.*120A= (n.*120A=) c.305A= (p.Tyr102=) c.626A= (p.Tyr209=) | |
| 3 | g.69949082A>C | CA353561307 | MITF | c.746A>C (p.Tyr249Ser) c.743A>C (p.Tyr248Ser) n.968A>C c.719A>C (p.Tyr240Ser) c.794A>C (p.Tyr265Ser) c.473A>C (p.Tyr158Ser) c.791A>C (p.Tyr264Ser) c.470A>C (p.Tyr157Ser) c.638A>C (p.Tyr213Ser) c.*120A>C (n.*120A>C) c.305A>C (p.Tyr102Ser) c.626A>C (p.Tyr209Ser) | |
| 3 | g.69949082A>G | CA16043400 | MITF | c.746A>G (p.Tyr249Cys) c.743A>G (p.Tyr248Cys) n.968A>G c.719A>G (p.Tyr240Cys) c.794A>G (p.Tyr265Cys) c.473A>G (p.Tyr158Cys) c.791A>G (p.Tyr264Cys) c.470A>G (p.Tyr157Cys) c.638A>G (p.Tyr213Cys) c.*120A>G (n.*120A>G) c.305A>G (p.Tyr102Cys) c.626A>G (p.Tyr209Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69949082A>T | CA353561308 | MITF | c.746A>T (p.Tyr249Phe) c.743A>T (p.Tyr248Phe) n.968A>T c.719A>T (p.Tyr240Phe) c.794A>T (p.Tyr265Phe) c.473A>T (p.Tyr158Phe) c.791A>T (p.Tyr264Phe) c.470A>T (p.Tyr157Phe) c.638A>T (p.Tyr213Phe) c.*120A>T (n.*120A>T) c.305A>T (p.Tyr102Phe) c.626A>T (p.Tyr209Phe) | gnomAD v4 |
| 3 | g.69949083T>A | CA353561309 | MITF | c.747T>A (p.Tyr249Ter) c.744T>A (p.Tyr248Ter) n.969T>A c.720T>A (p.Tyr240Ter) c.795T>A (p.Tyr265Ter) c.474T>A (p.Tyr158Ter) c.792T>A (p.Tyr264Ter) c.471T>A (p.Tyr157Ter) c.639T>A (p.Tyr213Ter) c.*121T>A (n.*121T>A) c.306T>A (p.Tyr102Ter) c.627T>A (p.Tyr209Ter) | |
| 3 | g.69949083T>C | CA434305863 | MITF | c.747T>C (p.Tyr249=) c.744T>C (p.Tyr248=) n.969T>C c.720T>C (p.Tyr240=) c.795T>C (p.Tyr265=) c.474T>C (p.Tyr158=) c.792T>C (p.Tyr264=) c.471T>C (p.Tyr157=) c.639T>C (p.Tyr213=) c.*121T>C (n.*121T>C) c.306T>C (p.Tyr102=) c.627T>C (p.Tyr209=) | dbSNP gnomAD v4 |
| 3 | g.69949083T>G | CA353561310 | MITF | c.747T>G (p.Tyr249Ter) c.744T>G (p.Tyr248Ter) n.969T>G c.720T>G (p.Tyr240Ter) c.795T>G (p.Tyr265Ter) c.474T>G (p.Tyr158Ter) c.792T>G (p.Tyr264Ter) c.471T>G (p.Tyr157Ter) c.639T>G (p.Tyr213Ter) c.*121T>G (n.*121T>G) c.306T>G (p.Tyr102Ter) c.627T>G (p.Tyr209Ter) | |
| 3 | g.69949083T= | CA1373440653 | MITF | c.747T= (p.Tyr249=) c.744T= (p.Tyr248=) n.969T= c.720T= (p.Tyr240=) c.795T= (p.Tyr265=) c.474T= (p.Tyr158=) c.792T= (p.Tyr264=) c.471T= (p.Tyr157=) c.639T= (p.Tyr213=) c.*121T= (n.*121T=) c.306T= (p.Tyr102=) c.627T= (p.Tyr209=) | |
| 3 | g.69949084G>A | CA353561311 | MITF | c.748G>A (p.Gly250Arg) c.745G>A (p.Gly249Arg) n.970G>A c.721G>A (p.Gly241Arg) c.796G>A (p.Gly266Arg) c.475G>A (p.Gly159Arg) c.793G>A (p.Gly265Arg) c.640G>A (p.Gly214Arg) c.*122G>A (n.*122G>A) c.307G>A (p.Gly103Arg) c.628G>A (p.Gly210Arg) | ClinVar gnomAD v4 |
| 3 | g.69949084G>C | CA353561312 | MITF | c.748G>C (p.Gly250Arg) c.745G>C (p.Gly249Arg) n.970G>C c.721G>C (p.Gly241Arg) c.796G>C (p.Gly266Arg) c.475G>C (p.Gly159Arg) c.793G>C (p.Gly265Arg) c.640G>C (p.Gly214Arg) c.*122G>C (n.*122G>C) c.307G>C (p.Gly103Arg) c.628G>C (p.Gly210Arg) | |
| 3 | g.69949084G>T | CA353561313 | MITF | c.748G>T (p.Gly250Ter) c.745G>T (p.Gly249Ter) n.970G>T c.721G>T (p.Gly241Ter) c.796G>T (p.Gly266Ter) c.475G>T (p.Gly159Ter) c.793G>T (p.Gly265Ter) c.640G>T (p.Gly214Ter) c.*122G>T (n.*122G>T) c.307G>T (p.Gly103Ter) c.628G>T (p.Gly210Ter) | |
| 3 | g.69949085G>A | CA353561315 | MITF | c.749G>A (p.Gly250Glu) c.746G>A (p.Gly249Glu) n.971G>A c.722G>A (p.Gly241Glu) c.797G>A (p.Gly266Glu) c.476G>A (p.Gly159Glu) c.794G>A (p.Gly265Glu) c.641G>A (p.Gly214Glu) c.*123G>A (n.*123G>A) c.308G>A (p.Gly103Glu) c.629G>A (p.Gly210Glu) | |
| 3 | g.69949085G>C | CA353561316 | MITF | c.749G>C (p.Gly250Ala) c.746G>C (p.Gly249Ala) n.971G>C c.722G>C (p.Gly241Ala) c.797G>C (p.Gly266Ala) c.476G>C (p.Gly159Ala) c.794G>C (p.Gly265Ala) c.641G>C (p.Gly214Ala) c.*123G>C (n.*123G>C) c.308G>C (p.Gly103Ala) c.629G>C (p.Gly210Ala) | |
| 3 | g.69949085G>T | CA353561314 | MITF | c.749G>T (p.Gly250Val) c.746G>T (p.Gly249Val) n.971G>T c.722G>T (p.Gly241Val) c.797G>T (p.Gly266Val) c.476G>T (p.Gly159Val) c.794G>T (p.Gly265Val) c.641G>T (p.Gly214Val) c.*123G>T (n.*123G>T) c.308G>T (p.Gly103Val) c.629G>T (p.Gly210Val) | |
| 3 | g.69949086A= | CA1373440657 | MITF | c.750A= (p.Gly250=) c.747A= (p.Gly249=) n.972A= c.723A= (p.Gly241=) c.798A= (p.Gly266=) c.477A= (p.Gly159=) c.795A= (p.Gly265=) c.642A= (p.Gly214=) c.*124A= (n.*124A=) c.309A= (p.Gly103=) c.630A= (p.Gly210=) | |
| 3 | g.69949086A>C | CA77001737 | MITF | c.750A>C (p.Gly250=) c.747A>C (p.Gly249=) n.972A>C c.723A>C (p.Gly241=) c.798A>C (p.Gly266=) c.477A>C (p.Gly159=) c.795A>C (p.Gly265=) c.642A>C (p.Gly214=) c.*124A>C (n.*124A>C) c.309A>C (p.Gly103=) c.630A>C (p.Gly210=) | dbSNP |
| 3 | g.69949086A>G | CA434305864 | MITF | c.750A>G (p.Gly250=) c.747A>G (p.Gly249=) n.972A>G c.723A>G (p.Gly241=) c.798A>G (p.Gly266=) c.477A>G (p.Gly159=) c.795A>G (p.Gly265=) c.642A>G (p.Gly214=) c.*124A>G (n.*124A>G) c.309A>G (p.Gly103=) c.630A>G (p.Gly210=) | |
| 3 | g.69949086A>T | CA434305865 | MITF | c.750A>T (p.Gly250=) c.747A>T (p.Gly249=) n.972A>T c.723A>T (p.Gly241=) c.798A>T (p.Gly266=) c.477A>T (p.Gly159=) c.795A>T (p.Gly265=) c.642A>T (p.Gly214=) c.*124A>T (n.*124A>T) c.309A>T (p.Gly103=) c.630A>T (p.Gly210=) | |
| 3 | g.69949087A>C | CA353561317 | MITF | c.751A>C (p.Asn251His) c.748A>C (p.Asn250His) n.973A>C c.724A>C (p.Asn242His) c.799A>C (p.Asn267His) c.478A>C (p.Asn160His) c.796A>C (p.Asn266His) c.643A>C (p.Asn215His) c.*125A>C (n.*125A>C) c.310A>C (p.Asn104His) c.631A>C (p.Asn211His) | |
| 3 | g.69949087A>G | CA353561318 | MITF | c.751A>G (p.Asn251Asp) c.748A>G (p.Asn250Asp) n.973A>G c.724A>G (p.Asn242Asp) c.799A>G (p.Asn267Asp) c.478A>G (p.Asn160Asp) c.796A>G (p.Asn266Asp) c.643A>G (p.Asn215Asp) c.*125A>G (n.*125A>G) c.310A>G (p.Asn104Asp) c.631A>G (p.Asn211Asp) | |
| 3 | g.69949087A>T | CA353561319 | MITF | c.751A>T (p.Asn251Tyr) c.748A>T (p.Asn250Tyr) n.973A>T c.724A>T (p.Asn242Tyr) c.799A>T (p.Asn267Tyr) c.478A>T (p.Asn160Tyr) c.796A>T (p.Asn266Tyr) c.643A>T (p.Asn215Tyr) c.*125A>T (n.*125A>T) c.310A>T (p.Asn104Tyr) c.631A>T (p.Asn211Tyr) | |
| 3 | g.69949088A>C | CA353561320 | MITF | c.752A>C (p.Asn251Thr) c.749A>C (p.Asn250Thr) n.974A>C c.725A>C (p.Asn242Thr) c.800A>C (p.Asn267Thr) c.479A>C (p.Asn160Thr) c.797A>C (p.Asn266Thr) c.644A>C (p.Asn215Thr) c.*126A>C (n.*126A>C) c.311A>C (p.Asn104Thr) c.632A>C (p.Asn211Thr) | |
| 3 | g.69949088A>G | CA353561321 | MITF | c.752A>G (p.Asn251Ser) c.749A>G (p.Asn250Ser) n.974A>G c.725A>G (p.Asn242Ser) c.800A>G (p.Asn267Ser) c.479A>G (p.Asn160Ser) c.797A>G (p.Asn266Ser) c.644A>G (p.Asn215Ser) c.*126A>G (n.*126A>G) c.311A>G (p.Asn104Ser) c.632A>G (p.Asn211Ser) | |
| 3 | g.69949088A>T | CA353561322 | MITF | c.752A>T (p.Asn251Ile) c.749A>T (p.Asn250Ile) n.974A>T c.725A>T (p.Asn242Ile) c.800A>T (p.Asn267Ile) c.479A>T (p.Asn160Ile) c.797A>T (p.Asn266Ile) c.644A>T (p.Asn215Ile) c.*126A>T (n.*126A>T) c.311A>T (p.Asn104Ile) c.632A>T (p.Asn211Ile) | |
| 3 | g.69949089C>A | CA2490475 | MITF | c.753C>A (p.Asn251Lys) c.750C>A (p.Asn250Lys) n.975C>A c.726C>A (p.Asn242Lys) c.801C>A (p.Asn267Lys) c.480C>A (p.Asn160Lys) c.798C>A (p.Asn266Lys) c.645C>A (p.Asn215Lys) c.*127C>A (n.*127C>A) c.312C>A (p.Asn104Lys) c.633C>A (p.Asn211Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69949089C= | CA1373440660 | MITF | c.753C= (p.Asn251=) c.750C= (p.Asn250=) n.975C= c.726C= (p.Asn242=) c.801C= (p.Asn267=) c.480C= (p.Asn160=) c.798C= (p.Asn266=) c.645C= (p.Asn215=) c.*127C= (n.*127C=) c.312C= (p.Asn104=) c.633C= (p.Asn211=) | |
| 3 | g.69949089C>G | CA353561323 | MITF | c.753C>G (p.Asn251Lys) c.750C>G (p.Asn250Lys) n.975C>G c.726C>G (p.Asn242Lys) c.801C>G (p.Asn267Lys) c.480C>G (p.Asn160Lys) c.798C>G (p.Asn266Lys) c.645C>G (p.Asn215Lys) c.*127C>G (n.*127C>G) c.312C>G (p.Asn104Lys) c.633C>G (p.Asn211Lys) | |
| 3 | g.69949089C>T | CA434305866 | MITF | c.753C>T (p.Asn251=) c.750C>T (p.Asn250=) n.975C>T c.726C>T (p.Asn242=) c.801C>T (p.Asn267=) c.480C>T (p.Asn160=) c.798C>T (p.Asn266=) c.645C>T (p.Asn215=) c.*127C>T (n.*127C>T) c.312C>T (p.Asn104=) c.633C>T (p.Asn211=) | |
| 3 | g.69949090C>A | CA353561324 | MITF | c.754C>A (p.Gln252Lys) c.751C>A (p.Gln251Lys) n.976C>A c.727C>A (p.Gln243Lys) c.802C>A (p.Gln268Lys) c.481C>A (p.Gln161Lys) c.799C>A (p.Gln267Lys) c.646C>A (p.Gln216Lys) c.*128C>A (n.*128C>A) c.313C>A (p.Gln105Lys) c.634C>A (p.Gln212Lys) | |
| 3 | g.69949090C= | CA1373440663 | MITF | c.754C= (p.Gln252=) c.751C= (p.Gln251=) n.976C= c.727C= (p.Gln243=) c.802C= (p.Gln268=) c.481C= (p.Gln161=) c.799C= (p.Gln267=) c.646C= (p.Gln216=) c.*128C= (n.*128C=) c.313C= (p.Gln105=) c.634C= (p.Gln212=) | |
| 3 | g.69949090C>G | CA2490476 | MITF | c.754C>G (p.Gln252Glu) c.751C>G (p.Gln251Glu) n.976C>G c.727C>G (p.Gln243Glu) c.802C>G (p.Gln268Glu) c.481C>G (p.Gln161Glu) c.799C>G (p.Gln267Glu) c.646C>G (p.Gln216Glu) c.*128C>G (n.*128C>G) c.313C>G (p.Gln105Glu) c.634C>G (p.Gln212Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69949090C>T | CA353561325 | MITF | c.754C>T (p.Gln252Ter) c.751C>T (p.Gln251Ter) n.976C>T c.727C>T (p.Gln243Ter) c.802C>T (p.Gln268Ter) c.481C>T (p.Gln161Ter) c.799C>T (p.Gln267Ter) c.646C>T (p.Gln216Ter) c.*128C>T (n.*128C>T) c.313C>T (p.Gln105Ter) c.634C>T (p.Gln212Ter) | |
| 3 | g.69949091A= | CA1373440665 | MITF | c.755A= (p.Gln252=) c.752A= (p.Gln251=) n.977A= c.728A= (p.Gln243=) c.803A= (p.Gln268=) c.482A= (p.Gln161=) c.800A= (p.Gln267=) c.647A= (p.Gln216=) c.*129A= (n.*129A=) c.314A= (p.Gln105=) c.635A= (p.Gln212=) | |
| 3 | g.69949091A>C | CA353561326 | MITF | c.755A>C (p.Gln252Pro) c.752A>C (p.Gln251Pro) n.977A>C c.728A>C (p.Gln243Pro) c.803A>C (p.Gln268Pro) c.482A>C (p.Gln161Pro) c.800A>C (p.Gln267Pro) c.647A>C (p.Gln216Pro) c.*129A>C (n.*129A>C) c.314A>C (p.Gln105Pro) c.635A>C (p.Gln212Pro) | |
| 3 | g.69949091A>G | CA77001738 | MITF | c.755A>G (p.Gln252Arg) c.752A>G (p.Gln251Arg) n.977A>G c.728A>G (p.Gln243Arg) c.803A>G (p.Gln268Arg) c.482A>G (p.Gln161Arg) c.800A>G (p.Gln267Arg) c.647A>G (p.Gln216Arg) c.*129A>G (n.*129A>G) c.314A>G (p.Gln105Arg) c.635A>G (p.Gln212Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69949091A>T | CA353561327 | MITF | c.755A>T (p.Gln252Leu) c.752A>T (p.Gln251Leu) n.977A>T c.728A>T (p.Gln243Leu) c.803A>T (p.Gln268Leu) c.482A>T (p.Gln161Leu) c.800A>T (p.Gln267Leu) c.647A>T (p.Gln216Leu) c.*129A>T (n.*129A>T) c.314A>T (p.Gln105Leu) c.635A>T (p.Gln212Leu) | |
| 3 | g.69949092A= | CA1373440670 | MITF | c.756A= (p.Gln252=) c.753A= (p.Gln251=) n.978A= c.729A= (p.Gln243=) c.804A= (p.Gln268=) c.483A= (p.Gln161=) c.801A= (p.Gln267=) c.648A= (p.Gln216=) c.*130A= (n.*130A=) c.315A= (p.Gln105=) c.636A= (p.Gln212=) | |
| 3 | g.69949092A>C | CA353561328 | MITF | c.756A>C (p.Gln252His) c.753A>C (p.Gln251His) n.978A>C c.729A>C (p.Gln243His) c.804A>C (p.Gln268His) c.483A>C (p.Gln161His) c.801A>C (p.Gln267His) c.648A>C (p.Gln216His) c.*130A>C (n.*130A>C) c.315A>C (p.Gln105His) c.636A>C (p.Gln212His) | |
| 3 | g.69949092A>G | CA434305867 | MITF | c.756A>G (p.Gln252=) c.753A>G (p.Gln251=) n.978A>G c.729A>G (p.Gln243=) c.804A>G (p.Gln268=) c.483A>G (p.Gln161=) c.801A>G (p.Gln267=) c.648A>G (p.Gln216=) c.*130A>G (n.*130A>G) c.315A>G (p.Gln105=) c.636A>G (p.Gln212=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69949092A>T | CA77001739 | MITF | c.756A>T (p.Gln252His) c.753A>T (p.Gln251His) n.978A>T c.729A>T (p.Gln243His) c.804A>T (p.Gln268His) c.483A>T (p.Gln161His) c.801A>T (p.Gln267His) c.648A>T (p.Gln216His) c.*130A>T (n.*130A>T) c.315A>T (p.Gln105His) c.636A>T (p.Gln212His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69949093G>A | CA77001740 | MITF | c.757G>A (p.Gly253Ser) c.754G>A (p.Gly252Ser) n.979G>A c.730G>A (p.Gly244Ser) c.805G>A (p.Gly269Ser) c.484G>A (p.Gly162Ser) c.802G>A (p.Gly268Ser) c.649G>A (p.Gly217Ser) c.*131G>A (n.*131G>A) c.316G>A (p.Gly106Ser) c.637G>A (p.Gly213Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69949093G>C | CA353561330 | MITF | c.757G>C (p.Gly253Arg) c.754G>C (p.Gly252Arg) n.979G>C c.730G>C (p.Gly244Arg) c.805G>C (p.Gly269Arg) c.484G>C (p.Gly162Arg) c.802G>C (p.Gly268Arg) c.649G>C (p.Gly217Arg) c.*131G>C (n.*131G>C) c.316G>C (p.Gly106Arg) c.637G>C (p.Gly213Arg) | |
| 3 | g.69949093G= | CA1373440674 | MITF | c.757G= (p.Gly253=) c.754G= (p.Gly252=) n.979G= c.730G= (p.Gly244=) c.805G= (p.Gly269=) c.484G= (p.Gly162=) c.802G= (p.Gly268=) c.649G= (p.Gly217=) c.*131G= (n.*131G=) c.316G= (p.Gly106=) c.637G= (p.Gly213=) | |
| 3 | g.69949093G>T | CA353561329 | MITF | c.757G>T (p.Gly253Cys) c.754G>T (p.Gly252Cys) n.979G>T c.730G>T (p.Gly244Cys) c.805G>T (p.Gly269Cys) c.484G>T (p.Gly162Cys) c.802G>T (p.Gly268Cys) c.649G>T (p.Gly217Cys) c.*131G>T (n.*131G>T) c.316G>T (p.Gly106Cys) c.637G>T (p.Gly213Cys) | |
| 3 | g.69949094G>A | CA353561331 | MITF | c.758G>A (p.Gly253Asp) c.755G>A (p.Gly252Asp) n.980G>A c.731G>A (p.Gly244Asp) c.806G>A (p.Gly269Asp) c.485G>A (p.Gly162Asp) c.803G>A (p.Gly268Asp) c.650G>A (p.Gly217Asp) c.*132G>A (n.*132G>A) c.317G>A (p.Gly106Asp) c.638G>A (p.Gly213Asp) | gnomAD v4 |
| 3 | g.69949094G>C | CA353561332 | MITF | c.758G>C (p.Gly253Ala) c.755G>C (p.Gly252Ala) n.980G>C c.731G>C (p.Gly244Ala) c.806G>C (p.Gly269Ala) c.485G>C (p.Gly162Ala) c.803G>C (p.Gly268Ala) c.650G>C (p.Gly217Ala) c.*132G>C (n.*132G>C) c.317G>C (p.Gly106Ala) c.638G>C (p.Gly213Ala) | |
| 3 | g.69949094G>T | CA353561333 | MITF | c.758G>T (p.Gly253Val) c.755G>T (p.Gly252Val) n.980G>T c.731G>T (p.Gly244Val) c.806G>T (p.Gly269Val) c.485G>T (p.Gly162Val) c.803G>T (p.Gly268Val) c.650G>T (p.Gly217Val) c.*132G>T (n.*132G>T) c.317G>T (p.Gly106Val) c.638G>T (p.Gly213Val) | |
| 3 | g.69949095T>A | CA434305868 | MITF | c.759T>A (p.Gly253=) c.756T>A (p.Gly252=) n.981T>A c.732T>A (p.Gly244=) c.807T>A (p.Gly269=) c.486T>A (p.Gly162=) c.804T>A (p.Gly268=) c.651T>A (p.Gly217=) c.*133T>A (n.*133T>A) c.318T>A (p.Gly106=) c.639T>A (p.Gly213=) | |
| 3 | g.69949095T>C | CA434305869 | MITF | c.759T>C (p.Gly253=) c.756T>C (p.Gly252=) n.981T>C c.732T>C (p.Gly244=) c.807T>C (p.Gly269=) c.486T>C (p.Gly162=) c.804T>C (p.Gly268=) c.651T>C (p.Gly217=) c.*133T>C (n.*133T>C) c.318T>C (p.Gly106=) c.639T>C (p.Gly213=) | |
| 3 | g.69949095T>G | CA434305870 | MITF | c.759T>G (p.Gly253=) c.756T>G (p.Gly252=) n.981T>G c.732T>G (p.Gly244=) c.807T>G (p.Gly269=) c.486T>G (p.Gly162=) c.804T>G (p.Gly268=) c.651T>G (p.Gly217=) c.*133T>G (n.*133T>G) c.318T>G (p.Gly106=) c.639T>G (p.Gly213=) |