UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69956469_69956471del | CA645372387 | MITF | c.904_906del (p.Arg302del) c.901_903del (p.Arg301del) n.1126_1128del c.877_879del (p.Arg293del) c.970_972del (p.Arg324del) c.649_651del (p.Arg217del) c.949_951del (p.Arg317del) c.952_954del (p.Arg318del) c.631_633del (p.Arg211del) c.922_924del (p.Arg308del) c.796_798del (p.Arg266del) c.*296_*298del (n.*296_*298del) c.463_465del (p.Arg155del) c.814_816del (p.Arg272del) c.967_969del (p.Arg323del) c.919_921del (p.Arg307del) c.802_804del (p.Arg268del) c.784_786del (p.Arg262del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.69956467_69956468delinsTT | CA2586972645 | MITF | c.902_903delinsTT (p.Arg301Ile) c.899_900delinsTT (p.Arg300Ile) n.1124_1125delinsTT c.875_876delinsTT (p.Arg292Ile) c.968_969delinsTT (p.Arg323Ile) c.647_648delinsTT (p.Arg216Ile) c.947_948delinsTT (p.Arg316Ile) c.950_951delinsTT (p.Arg317Ile) c.629_630delinsTT (p.Arg210Ile) c.920_921delinsTT (p.Arg307Ile) c.794_795delinsTT (p.Arg265Ile) c.*294_*295delinsTT (n.*294_*295delinsTT) c.461_462delinsTT (p.Arg154Ile) c.812_813delinsTT (p.Arg271Ile) c.965_966delinsTT (p.Arg322Ile) c.917_918delinsTT (p.Arg306Ile) c.800_801delinsTT (p.Arg267Ile) c.782_783delinsTT (p.Arg261Ile) | |
| 3 | g.69956467_69956472delinsGAAGAT | CA1373447755 | MITF | c.902_907delinsGAAGAT (p.Arg301=) c.899_904delinsGAAGAT (p.Arg300=) n.1124_1129delinsGAAGAT c.875_880delinsGAAGAT (p.Arg292=) c.968_973delinsGAAGAT (p.Arg323=) c.647_652delinsGAAGAT (p.Arg216=) c.947_952delinsGAAGAT (p.Arg316=) c.950_955delinsGAAGAT (p.Arg317=) c.629_634delinsGAAGAT (p.Arg210=) c.920_925delinsGAAGAT (p.Arg307=) c.794_799delinsGAAGAT (p.Arg265=) c.*294_*299delinsGAAGAT (n.*294_*299delinsGAAGAT) c.461_466delinsGAAGAT (p.Arg154=) c.812_817delinsGAAGAT (p.Arg271=) c.965_970delinsGAAGAT (p.Arg322=) c.917_922delinsGAAGAT (p.Arg306=) c.800_805delinsGAAGAT (p.Arg267=) c.782_787delinsGAAGAT (p.Arg261=) | |
| 3 | g.69956468A>C | CA353561715 | MITF | c.903A>C (p.Arg301Ser) c.900A>C (p.Arg300Ser) n.1125A>C c.876A>C (p.Arg292Ser) c.969A>C (p.Arg323Ser) c.648A>C (p.Arg216Ser) c.948A>C (p.Arg316Ser) c.951A>C (p.Arg317Ser) c.630A>C (p.Arg210Ser) c.921A>C (p.Arg307Ser) c.795A>C (p.Arg265Ser) c.*295A>C (n.*295A>C) c.462A>C (p.Arg154Ser) c.813A>C (p.Arg271Ser) c.966A>C (p.Arg322Ser) c.918A>C (p.Arg306Ser) c.801A>C (p.Arg267Ser) c.783A>C (p.Arg261Ser) | |
| 3 | g.69956468A>G | CA434306330 | MITF | c.903A>G (p.Arg301=) c.900A>G (p.Arg300=) n.1125A>G c.876A>G (p.Arg292=) c.969A>G (p.Arg323=) c.648A>G (p.Arg216=) c.948A>G (p.Arg316=) c.951A>G (p.Arg317=) c.630A>G (p.Arg210=) c.921A>G (p.Arg307=) c.795A>G (p.Arg265=) c.*295A>G (n.*295A>G) c.462A>G (p.Arg154=) c.813A>G (p.Arg271=) c.966A>G (p.Arg322=) c.918A>G (p.Arg306=) c.801A>G (p.Arg267=) c.783A>G (p.Arg261=) | |
| 3 | g.69956468A>T | CA353561716 | MITF | c.903A>T (p.Arg301Ser) c.900A>T (p.Arg300Ser) n.1125A>T c.876A>T (p.Arg292Ser) c.969A>T (p.Arg323Ser) c.648A>T (p.Arg216Ser) c.948A>T (p.Arg316Ser) c.951A>T (p.Arg317Ser) c.630A>T (p.Arg210Ser) c.921A>T (p.Arg307Ser) c.795A>T (p.Arg265Ser) c.*295A>T (n.*295A>T) c.462A>T (p.Arg154Ser) c.813A>T (p.Arg271Ser) c.966A>T (p.Arg322Ser) c.918A>T (p.Arg306Ser) c.801A>T (p.Arg267Ser) c.783A>T (p.Arg261Ser) | |
| 3 | g.69956469del | CA2586972646 | MITF | c.904del (p.Arg302AspfsTer4) c.901del (p.Arg301AspfsTer4) n.1126del c.877del (p.Arg293AspfsTer4) c.970del (p.Arg324AspfsTer4) c.649del (p.Arg217AspfsTer4) c.949del (p.Arg317AspfsTer4) c.952del (p.Arg318AspfsTer4) c.631del (p.Arg211AspfsTer4) c.922del (p.Arg308AspfsTer4) c.796del (p.Arg266AspfsTer4) c.*296del (n.*296del) c.463del (p.Arg155AspfsTer4) c.814del (p.Arg272AspfsTer4) c.967del (p.Arg323AspfsTer4) c.919del (p.Arg307AspfsTer4) c.802del (p.Arg268AspfsTer4) c.784del (p.Arg262AspfsTer4) | |
| 3 | g.69956468_69956472del | CA1139658170 | MITF | c.903_907del (p.Arg301SerfsTer2) c.900_904del (p.Arg300SerfsTer2) n.1125_1129del c.876_880del (p.Arg292SerfsTer2) c.969_973del (p.Arg323SerfsTer2) c.648_652del (p.Arg216SerfsTer2) c.948_952del (p.Arg316SerfsTer2) c.951_955del (p.Arg317SerfsTer2) c.630_634del (p.Arg210SerfsTer2) c.921_925del (p.Arg307SerfsTer2) c.795_799del (p.Arg265SerfsTer2) c.*295_*299del (n.*295_*299del) c.462_466del (p.Arg154SerfsTer2) c.813_817del (p.Arg271SerfsTer2) c.966_970del (p.Arg322SerfsTer2) c.918_922del (p.Arg306SerfsTer2) c.801_805del (p.Arg267SerfsTer2) c.783_787del (p.Arg261SerfsTer2) | ClinVar dbSNP |
| 3 | g.69956469A= | CA1373447759 | MITF | c.904A= (p.Arg302=) c.901A= (p.Arg301=) n.1126A= c.877A= (p.Arg293=) c.970A= (p.Arg324=) c.649A= (p.Arg217=) c.949A= (p.Arg317=) c.952A= (p.Arg318=) c.631A= (p.Arg211=) c.922A= (p.Arg308=) c.796A= (p.Arg266=) c.*296A= (n.*296A=) c.463A= (p.Arg155=) c.814A= (p.Arg272=) c.967A= (p.Arg323=) c.919A= (p.Arg307=) c.802A= (p.Arg268=) c.784A= (p.Arg262=) | |
| 3 | g.69956469A>C | CA434306331 | MITF | c.904A>C (p.Arg302=) c.901A>C (p.Arg301=) n.1126A>C c.877A>C (p.Arg293=) c.970A>C (p.Arg324=) c.649A>C (p.Arg217=) c.949A>C (p.Arg317=) c.952A>C (p.Arg318=) c.631A>C (p.Arg211=) c.922A>C (p.Arg308=) c.796A>C (p.Arg266=) c.*296A>C (n.*296A>C) c.463A>C (p.Arg155=) c.814A>C (p.Arg272=) c.967A>C (p.Arg323=) c.919A>C (p.Arg307=) c.802A>C (p.Arg268=) c.784A>C (p.Arg262=) | |
| 3 | g.69956469A>G | CA16044011 | MITF | c.904A>G (p.Arg302Gly) c.901A>G (p.Arg301Gly) n.1126A>G c.877A>G (p.Arg293Gly) c.970A>G (p.Arg324Gly) c.649A>G (p.Arg217Gly) c.949A>G (p.Arg317Gly) c.952A>G (p.Arg318Gly) c.631A>G (p.Arg211Gly) c.922A>G (p.Arg308Gly) c.796A>G (p.Arg266Gly) c.*296A>G (n.*296A>G) c.463A>G (p.Arg155Gly) c.814A>G (p.Arg272Gly) c.967A>G (p.Arg323Gly) c.919A>G (p.Arg307Gly) c.802A>G (p.Arg268Gly) c.784A>G (p.Arg262Gly) | ClinVar dbSNP |
| 3 | g.69956469A>T | CA353561717 | MITF | c.904A>T (p.Arg302Ter) c.901A>T (p.Arg301Ter) n.1126A>T c.877A>T (p.Arg293Ter) c.970A>T (p.Arg324Ter) c.649A>T (p.Arg217Ter) c.949A>T (p.Arg317Ter) c.952A>T (p.Arg318Ter) c.631A>T (p.Arg211Ter) c.922A>T (p.Arg308Ter) c.796A>T (p.Arg266Ter) c.*296A>T (n.*296A>T) c.463A>T (p.Arg155Ter) c.814A>T (p.Arg272Ter) c.967A>T (p.Arg323Ter) c.919A>T (p.Arg307Ter) c.802A>T (p.Arg268Ter) c.784A>T (p.Arg262Ter) | |
| 3 | g.69956470G>A | CA353561718 | MITF | c.905G>A (p.Arg302Lys) c.902G>A (p.Arg301Lys) n.1127G>A c.878G>A (p.Arg293Lys) c.971G>A (p.Arg324Lys) c.650G>A (p.Arg217Lys) c.950G>A (p.Arg317Lys) c.953G>A (p.Arg318Lys) c.632G>A (p.Arg211Lys) c.923G>A (p.Arg308Lys) c.797G>A (p.Arg266Lys) c.*297G>A (n.*297G>A) c.464G>A (p.Arg155Lys) c.815G>A (p.Arg272Lys) c.968G>A (p.Arg323Lys) c.920G>A (p.Arg307Lys) c.803G>A (p.Arg268Lys) c.785G>A (p.Arg262Lys) | |
| 3 | g.69956470G>C | CA353561719 | MITF | c.905G>C (p.Arg302Thr) c.902G>C (p.Arg301Thr) n.1127G>C c.878G>C (p.Arg293Thr) c.971G>C (p.Arg324Thr) c.650G>C (p.Arg217Thr) c.950G>C (p.Arg317Thr) c.953G>C (p.Arg318Thr) c.632G>C (p.Arg211Thr) c.923G>C (p.Arg308Thr) c.797G>C (p.Arg266Thr) c.*297G>C (n.*297G>C) c.464G>C (p.Arg155Thr) c.815G>C (p.Arg272Thr) c.968G>C (p.Arg323Thr) c.920G>C (p.Arg307Thr) c.803G>C (p.Arg268Thr) c.785G>C (p.Arg262Thr) | |
| 3 | g.69956470G>T | CA353561720 | MITF | c.905G>T (p.Arg302Ile) c.902G>T (p.Arg301Ile) n.1127G>T c.878G>T (p.Arg293Ile) c.971G>T (p.Arg324Ile) c.650G>T (p.Arg217Ile) c.950G>T (p.Arg317Ile) c.953G>T (p.Arg318Ile) c.632G>T (p.Arg211Ile) c.923G>T (p.Arg308Ile) c.797G>T (p.Arg266Ile) c.*297G>T (n.*297G>T) c.464G>T (p.Arg155Ile) c.815G>T (p.Arg272Ile) c.968G>T (p.Arg323Ile) c.920G>T (p.Arg307Ile) c.803G>T (p.Arg268Ile) c.785G>T (p.Arg262Ile) | COSMIC COSMIC |
| 3 | g.69956471A= | CA1373447762 | MITF | c.906A= (p.Arg302=) c.903A= (p.Arg301=) n.1128A= c.879A= (p.Arg293=) c.972A= (p.Arg324=) c.651A= (p.Arg217=) c.951A= (p.Arg317=) c.954A= (p.Arg318=) c.633A= (p.Arg211=) c.924A= (p.Arg308=) c.798A= (p.Arg266=) c.*298A= (n.*298A=) c.465A= (p.Arg155=) c.816A= (p.Arg272=) c.969A= (p.Arg323=) c.921A= (p.Arg307=) c.804A= (p.Arg268=) c.786A= (p.Arg262=) | |
| 3 | g.69956471A>C | CA353561721 | MITF | c.906A>C (p.Arg302Ser) c.903A>C (p.Arg301Ser) n.1128A>C c.879A>C (p.Arg293Ser) c.972A>C (p.Arg324Ser) c.651A>C (p.Arg217Ser) c.951A>C (p.Arg317Ser) c.954A>C (p.Arg318Ser) c.633A>C (p.Arg211Ser) c.924A>C (p.Arg308Ser) c.798A>C (p.Arg266Ser) c.*298A>C (n.*298A>C) c.465A>C (p.Arg155Ser) c.816A>C (p.Arg272Ser) c.969A>C (p.Arg323Ser) c.921A>C (p.Arg307Ser) c.804A>C (p.Arg268Ser) c.786A>C (p.Arg262Ser) | COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69956471A>G | CA434306332 | MITF | c.906A>G (p.Arg302=) c.903A>G (p.Arg301=) n.1128A>G c.879A>G (p.Arg293=) c.972A>G (p.Arg324=) c.651A>G (p.Arg217=) c.951A>G (p.Arg317=) c.954A>G (p.Arg318=) c.633A>G (p.Arg211=) c.924A>G (p.Arg308=) c.798A>G (p.Arg266=) c.*298A>G (n.*298A>G) c.465A>G (p.Arg155=) c.816A>G (p.Arg272=) c.969A>G (p.Arg323=) c.921A>G (p.Arg307=) c.804A>G (p.Arg268=) c.786A>G (p.Arg262=) | dbSNP gnomAD v2 |
| 3 | g.69956471A>T | CA353561722 | MITF | c.906A>T (p.Arg302Ser) c.903A>T (p.Arg301Ser) n.1128A>T c.879A>T (p.Arg293Ser) c.972A>T (p.Arg324Ser) c.651A>T (p.Arg217Ser) c.951A>T (p.Arg317Ser) c.954A>T (p.Arg318Ser) c.633A>T (p.Arg211Ser) c.924A>T (p.Arg308Ser) c.798A>T (p.Arg266Ser) c.*298A>T (n.*298A>T) c.465A>T (p.Arg155Ser) c.816A>T (p.Arg272Ser) c.969A>T (p.Arg323Ser) c.921A>T (p.Arg307Ser) c.804A>T (p.Arg268Ser) c.786A>T (p.Arg262Ser) | |
| 3 | g.69956472T>A | CA353561723 | MITF | c.907T>A (p.Phe303Ile) c.904T>A (p.Phe302Ile) n.1129T>A c.880T>A (p.Phe294Ile) c.973T>A (p.Phe325Ile) c.652T>A (p.Phe218Ile) c.952T>A (p.Phe318Ile) c.955T>A (p.Phe319Ile) c.634T>A (p.Phe212Ile) c.925T>A (p.Phe309Ile) c.799T>A (p.Phe267Ile) c.*299T>A (n.*299T>A) c.466T>A (p.Phe156Ile) c.817T>A (p.Phe273Ile) c.970T>A (p.Phe324Ile) c.922T>A (p.Phe308Ile) c.805T>A (p.Phe269Ile) c.787T>A (p.Phe263Ile) | |
| 3 | g.69956472T>C | CA353561724 | MITF | c.907T>C (p.Phe303Leu) c.904T>C (p.Phe302Leu) n.1129T>C c.880T>C (p.Phe294Leu) c.973T>C (p.Phe325Leu) c.652T>C (p.Phe218Leu) c.952T>C (p.Phe318Leu) c.955T>C (p.Phe319Leu) c.634T>C (p.Phe212Leu) c.925T>C (p.Phe309Leu) c.799T>C (p.Phe267Leu) c.*299T>C (n.*299T>C) c.466T>C (p.Phe156Leu) c.817T>C (p.Phe273Leu) c.970T>C (p.Phe324Leu) c.922T>C (p.Phe308Leu) c.805T>C (p.Phe269Leu) c.787T>C (p.Phe263Leu) | |
| 3 | g.69956472T>G | CA353561725 | MITF | c.907T>G (p.Phe303Val) c.904T>G (p.Phe302Val) n.1129T>G c.880T>G (p.Phe294Val) c.973T>G (p.Phe325Val) c.652T>G (p.Phe218Val) c.952T>G (p.Phe318Val) c.955T>G (p.Phe319Val) c.634T>G (p.Phe212Val) c.925T>G (p.Phe309Val) c.799T>G (p.Phe267Val) c.*299T>G (n.*299T>G) c.466T>G (p.Phe156Val) c.817T>G (p.Phe273Val) c.970T>G (p.Phe324Val) c.922T>G (p.Phe308Val) c.805T>G (p.Phe269Val) c.787T>G (p.Phe263Val) | COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69956473T>A | CA353561727 | MITF | c.908T>A (p.Phe303Tyr) c.905T>A (p.Phe302Tyr) n.1130T>A c.881T>A (p.Phe294Tyr) c.974T>A (p.Phe325Tyr) c.653T>A (p.Phe218Tyr) c.953T>A (p.Phe318Tyr) c.956T>A (p.Phe319Tyr) c.635T>A (p.Phe212Tyr) c.926T>A (p.Phe309Tyr) c.800T>A (p.Phe267Tyr) c.*300T>A (n.*300T>A) c.467T>A (p.Phe156Tyr) c.818T>A (p.Phe273Tyr) c.971T>A (p.Phe324Tyr) c.923T>A (p.Phe308Tyr) c.806T>A (p.Phe269Tyr) c.788T>A (p.Phe263Tyr) | |
| 3 | g.69956473T>C | CA353561728 | MITF | c.908T>C (p.Phe303Ser) c.905T>C (p.Phe302Ser) n.1130T>C c.881T>C (p.Phe294Ser) c.974T>C (p.Phe325Ser) c.653T>C (p.Phe218Ser) c.953T>C (p.Phe318Ser) c.956T>C (p.Phe319Ser) c.635T>C (p.Phe212Ser) c.926T>C (p.Phe309Ser) c.800T>C (p.Phe267Ser) c.*300T>C (n.*300T>C) c.467T>C (p.Phe156Ser) c.818T>C (p.Phe273Ser) c.971T>C (p.Phe324Ser) c.923T>C (p.Phe308Ser) c.806T>C (p.Phe269Ser) c.788T>C (p.Phe263Ser) | |
| 3 | g.69956473T>G | CA353561726 | MITF | c.908T>G (p.Phe303Cys) c.905T>G (p.Phe302Cys) n.1130T>G c.881T>G (p.Phe294Cys) c.974T>G (p.Phe325Cys) c.653T>G (p.Phe218Cys) c.953T>G (p.Phe318Cys) c.956T>G (p.Phe319Cys) c.635T>G (p.Phe212Cys) c.926T>G (p.Phe309Cys) c.800T>G (p.Phe267Cys) c.*300T>G (n.*300T>G) c.467T>G (p.Phe156Cys) c.818T>G (p.Phe273Cys) c.971T>G (p.Phe324Cys) c.923T>G (p.Phe308Cys) c.806T>G (p.Phe269Cys) c.788T>G (p.Phe263Cys) | |
| 3 | g.69956474T>A | CA353561730 | MITF | c.909T>A (p.Phe303Leu) c.906T>A (p.Phe302Leu) n.1131T>A c.882T>A (p.Phe294Leu) c.975T>A (p.Phe325Leu) c.654T>A (p.Phe218Leu) c.954T>A (p.Phe318Leu) c.957T>A (p.Phe319Leu) c.636T>A (p.Phe212Leu) c.927T>A (p.Phe309Leu) c.801T>A (p.Phe267Leu) c.*301T>A (n.*301T>A) c.468T>A (p.Phe156Leu) c.819T>A (p.Phe273Leu) c.972T>A (p.Phe324Leu) c.924T>A (p.Phe308Leu) c.807T>A (p.Phe269Leu) c.789T>A (p.Phe263Leu) | |
| 3 | g.69956474T>C | CA434306333 | MITF | c.909T>C (p.Phe303=) c.906T>C (p.Phe302=) n.1131T>C c.882T>C (p.Phe294=) c.975T>C (p.Phe325=) c.654T>C (p.Phe218=) c.954T>C (p.Phe318=) c.957T>C (p.Phe319=) c.636T>C (p.Phe212=) c.927T>C (p.Phe309=) c.801T>C (p.Phe267=) c.*301T>C (n.*301T>C) c.468T>C (p.Phe156=) c.819T>C (p.Phe273=) c.972T>C (p.Phe324=) c.924T>C (p.Phe308=) c.807T>C (p.Phe269=) c.789T>C (p.Phe263=) | |
| 3 | g.69956474T>G | CA353561729 | MITF | c.909T>G (p.Phe303Leu) c.906T>G (p.Phe302Leu) n.1131T>G c.882T>G (p.Phe294Leu) c.975T>G (p.Phe325Leu) c.654T>G (p.Phe218Leu) c.954T>G (p.Phe318Leu) c.957T>G (p.Phe319Leu) c.636T>G (p.Phe212Leu) c.927T>G (p.Phe309Leu) c.801T>G (p.Phe267Leu) c.*301T>G (n.*301T>G) c.468T>G (p.Phe156Leu) c.819T>G (p.Phe273Leu) c.972T>G (p.Phe324Leu) c.924T>G (p.Phe308Leu) c.807T>G (p.Phe269Leu) c.789T>G (p.Phe263Leu) | |
| 3 | g.69956475A>C | CA353561731 | MITF | c.910A>C (p.Asn304His) c.907A>C (p.Asn303His) n.1132A>C c.883A>C (p.Asn295His) c.976A>C (p.Asn326His) c.655A>C (p.Asn219His) c.955A>C (p.Asn319His) c.958A>C (p.Asn320His) c.637A>C (p.Asn213His) c.928A>C (p.Asn310His) c.802A>C (p.Asn268His) c.*302A>C (n.*302A>C) c.469A>C (p.Asn157His) c.820A>C (p.Asn274His) c.973A>C (p.Asn325His) c.925A>C (p.Asn309His) c.808A>C (p.Asn270His) c.790A>C (p.Asn264His) | |
| 3 | g.69956475A>G | CA353561732 | MITF | c.910A>G (p.Asn304Asp) c.907A>G (p.Asn303Asp) n.1132A>G c.883A>G (p.Asn295Asp) c.976A>G (p.Asn326Asp) c.655A>G (p.Asn219Asp) c.955A>G (p.Asn319Asp) c.958A>G (p.Asn320Asp) c.637A>G (p.Asn213Asp) c.928A>G (p.Asn310Asp) c.802A>G (p.Asn268Asp) c.*302A>G (n.*302A>G) c.469A>G (p.Asn157Asp) c.820A>G (p.Asn274Asp) c.973A>G (p.Asn325Asp) c.925A>G (p.Asn309Asp) c.808A>G (p.Asn270Asp) c.790A>G (p.Asn264Asp) | gnomAD v4 |
| 3 | g.69956475A>T | CA353561733 | MITF | c.910A>T (p.Asn304Tyr) c.907A>T (p.Asn303Tyr) n.1132A>T c.883A>T (p.Asn295Tyr) c.976A>T (p.Asn326Tyr) c.655A>T (p.Asn219Tyr) c.955A>T (p.Asn319Tyr) c.958A>T (p.Asn320Tyr) c.637A>T (p.Asn213Tyr) c.928A>T (p.Asn310Tyr) c.802A>T (p.Asn268Tyr) c.*302A>T (n.*302A>T) c.469A>T (p.Asn157Tyr) c.820A>T (p.Asn274Tyr) c.973A>T (p.Asn325Tyr) c.925A>T (p.Asn309Tyr) c.808A>T (p.Asn270Tyr) c.790A>T (p.Asn264Tyr) | dbSNP |
| 3 | g.69956476A>C | CA353561734 | MITF | c.911A>C (p.Asn304Thr) c.908A>C (p.Asn303Thr) n.1133A>C c.884A>C (p.Asn295Thr) c.977A>C (p.Asn326Thr) c.656A>C (p.Asn219Thr) c.956A>C (p.Asn319Thr) c.959A>C (p.Asn320Thr) c.638A>C (p.Asn213Thr) c.929A>C (p.Asn310Thr) c.803A>C (p.Asn268Thr) c.*303A>C (n.*303A>C) c.470A>C (p.Asn157Thr) c.821A>C (p.Asn274Thr) c.974A>C (p.Asn325Thr) c.926A>C (p.Asn309Thr) c.809A>C (p.Asn270Thr) c.791A>C (p.Asn264Thr) | |
| 3 | g.69956476A>G | CA353561735 | MITF | c.911A>G (p.Asn304Ser) c.908A>G (p.Asn303Ser) n.1133A>G c.884A>G (p.Asn295Ser) c.977A>G (p.Asn326Ser) c.656A>G (p.Asn219Ser) c.956A>G (p.Asn319Ser) c.959A>G (p.Asn320Ser) c.638A>G (p.Asn213Ser) c.929A>G (p.Asn310Ser) c.803A>G (p.Asn268Ser) c.*303A>G (n.*303A>G) c.470A>G (p.Asn157Ser) c.821A>G (p.Asn274Ser) c.974A>G (p.Asn325Ser) c.926A>G (p.Asn309Ser) c.809A>G (p.Asn270Ser) c.791A>G (p.Asn264Ser) | |
| 3 | g.69956476A>T | CA353561736 | MITF | c.911A>T (p.Asn304Ile) c.908A>T (p.Asn303Ile) n.1133A>T c.884A>T (p.Asn295Ile) c.977A>T (p.Asn326Ile) c.656A>T (p.Asn219Ile) c.956A>T (p.Asn319Ile) c.959A>T (p.Asn320Ile) c.638A>T (p.Asn213Ile) c.929A>T (p.Asn310Ile) c.803A>T (p.Asn268Ile) c.*303A>T (n.*303A>T) c.470A>T (p.Asn157Ile) c.821A>T (p.Asn274Ile) c.974A>T (p.Asn325Ile) c.926A>T (p.Asn309Ile) c.809A>T (p.Asn270Ile) c.791A>T (p.Asn264Ile) | |
| 3 | g.69956477C>A | CA353561737 | MITF | c.912C>A (p.Asn304Lys) c.909C>A (p.Asn303Lys) n.1134C>A c.885C>A (p.Asn295Lys) c.978C>A (p.Asn326Lys) c.657C>A (p.Asn219Lys) c.957C>A (p.Asn319Lys) c.960C>A (p.Asn320Lys) c.639C>A (p.Asn213Lys) c.930C>A (p.Asn310Lys) c.804C>A (p.Asn268Lys) c.*304C>A (n.*304C>A) c.471C>A (p.Asn157Lys) c.822C>A (p.Asn274Lys) c.975C>A (p.Asn325Lys) c.927C>A (p.Asn309Lys) c.810C>A (p.Asn270Lys) c.792C>A (p.Asn264Lys) | |
| 3 | g.69956477C>G | CA353561738 | MITF | c.912C>G (p.Asn304Lys) c.909C>G (p.Asn303Lys) n.1134C>G c.885C>G (p.Asn295Lys) c.978C>G (p.Asn326Lys) c.657C>G (p.Asn219Lys) c.957C>G (p.Asn319Lys) c.960C>G (p.Asn320Lys) c.639C>G (p.Asn213Lys) c.930C>G (p.Asn310Lys) c.804C>G (p.Asn268Lys) c.*304C>G (n.*304C>G) c.471C>G (p.Asn157Lys) c.822C>G (p.Asn274Lys) c.975C>G (p.Asn325Lys) c.927C>G (p.Asn309Lys) c.810C>G (p.Asn270Lys) c.792C>G (p.Asn264Lys) | |
| 3 | g.69956477C>T | CA434306334 | MITF | c.912C>T (p.Asn304=) c.909C>T (p.Asn303=) n.1134C>T c.885C>T (p.Asn295=) c.978C>T (p.Asn326=) c.657C>T (p.Asn219=) c.957C>T (p.Asn319=) c.960C>T (p.Asn320=) c.639C>T (p.Asn213=) c.930C>T (p.Asn310=) c.804C>T (p.Asn268=) c.*304C>T (n.*304C>T) c.471C>T (p.Asn157=) c.822C>T (p.Asn274=) c.975C>T (p.Asn325=) c.927C>T (p.Asn309=) c.810C>T (p.Asn270=) c.792C>T (p.Asn264=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.69956478A>C | CA353561739 | MITF | c.913A>C (p.Ile305Leu) c.910A>C (p.Ile304Leu) n.1135A>C c.886A>C (p.Ile296Leu) c.979A>C (p.Ile327Leu) c.658A>C (p.Ile220Leu) c.958A>C (p.Ile320Leu) c.961A>C (p.Ile321Leu) c.640A>C (p.Ile214Leu) c.931A>C (p.Ile311Leu) c.805A>C (p.Ile269Leu) c.*305A>C (n.*305A>C) c.472A>C (p.Ile158Leu) c.823A>C (p.Ile275Leu) c.976A>C (p.Ile326Leu) c.928A>C (p.Ile310Leu) c.811A>C (p.Ile271Leu) c.793A>C (p.Ile265Leu) | ClinVar dbSNP |
| 3 | g.69956478A>G | CA353561740 | MITF | c.913A>G (p.Ile305Val) c.910A>G (p.Ile304Val) n.1135A>G c.886A>G (p.Ile296Val) c.979A>G (p.Ile327Val) c.658A>G (p.Ile220Val) c.958A>G (p.Ile320Val) c.961A>G (p.Ile321Val) c.640A>G (p.Ile214Val) c.931A>G (p.Ile311Val) c.805A>G (p.Ile269Val) c.*305A>G (n.*305A>G) c.472A>G (p.Ile158Val) c.823A>G (p.Ile275Val) c.976A>G (p.Ile326Val) c.928A>G (p.Ile310Val) c.811A>G (p.Ile271Val) c.793A>G (p.Ile265Val) | |
| 3 | g.69956478A>T | CA353561741 | MITF | c.913A>T (p.Ile305Leu) c.910A>T (p.Ile304Leu) n.1135A>T c.886A>T (p.Ile296Leu) c.979A>T (p.Ile327Leu) c.658A>T (p.Ile220Leu) c.958A>T (p.Ile320Leu) c.961A>T (p.Ile321Leu) c.640A>T (p.Ile214Leu) c.931A>T (p.Ile311Leu) c.805A>T (p.Ile269Leu) c.*305A>T (n.*305A>T) c.472A>T (p.Ile158Leu) c.823A>T (p.Ile275Leu) c.976A>T (p.Ile326Leu) c.928A>T (p.Ile310Leu) c.811A>T (p.Ile271Leu) c.793A>T (p.Ile265Leu) | |
| 3 | g.69956479T>A | CA353561744 | MITF | c.914T>A (p.Ile305Lys) c.911T>A (p.Ile304Lys) n.1136T>A c.887T>A (p.Ile296Lys) c.980T>A (p.Ile327Lys) c.659T>A (p.Ile220Lys) c.959T>A (p.Ile320Lys) c.962T>A (p.Ile321Lys) c.641T>A (p.Ile214Lys) c.932T>A (p.Ile311Lys) c.806T>A (p.Ile269Lys) c.*306T>A (n.*306T>A) c.473T>A (p.Ile158Lys) c.824T>A (p.Ile275Lys) c.977T>A (p.Ile326Lys) c.929T>A (p.Ile310Lys) c.812T>A (p.Ile271Lys) c.794T>A (p.Ile265Lys) | |
| 3 | g.69956479T>C | CA353561742 | MITF | c.914T>C (p.Ile305Thr) c.911T>C (p.Ile304Thr) n.1136T>C c.887T>C (p.Ile296Thr) c.980T>C (p.Ile327Thr) c.659T>C (p.Ile220Thr) c.959T>C (p.Ile320Thr) c.962T>C (p.Ile321Thr) c.641T>C (p.Ile214Thr) c.932T>C (p.Ile311Thr) c.806T>C (p.Ile269Thr) c.*306T>C (n.*306T>C) c.473T>C (p.Ile158Thr) c.824T>C (p.Ile275Thr) c.977T>C (p.Ile326Thr) c.929T>C (p.Ile310Thr) c.812T>C (p.Ile271Thr) c.794T>C (p.Ile265Thr) | |
| 3 | g.69956479T>G | CA353561743 | MITF | c.914T>G (p.Ile305Arg) c.911T>G (p.Ile304Arg) n.1136T>G c.887T>G (p.Ile296Arg) c.980T>G (p.Ile327Arg) c.659T>G (p.Ile220Arg) c.959T>G (p.Ile320Arg) c.962T>G (p.Ile321Arg) c.641T>G (p.Ile214Arg) c.932T>G (p.Ile311Arg) c.806T>G (p.Ile269Arg) c.*306T>G (n.*306T>G) c.473T>G (p.Ile158Arg) c.824T>G (p.Ile275Arg) c.977T>G (p.Ile326Arg) c.929T>G (p.Ile310Arg) c.812T>G (p.Ile271Arg) c.794T>G (p.Ile265Arg) | |
| 3 | g.69956480A>C | CA434306336 | MITF | c.915A>C (p.Ile305=) c.912A>C (p.Ile304=) n.1137A>C c.888A>C (p.Ile296=) c.981A>C (p.Ile327=) c.660A>C (p.Ile220=) c.960A>C (p.Ile320=) c.963A>C (p.Ile321=) c.642A>C (p.Ile214=) c.933A>C (p.Ile311=) c.807A>C (p.Ile269=) c.*307A>C (n.*307A>C) c.474A>C (p.Ile158=) c.825A>C (p.Ile275=) c.978A>C (p.Ile326=) c.930A>C (p.Ile310=) c.813A>C (p.Ile271=) c.795A>C (p.Ile265=) | |
| 3 | g.69956480A>G | CA353561745 | MITF | c.915A>G (p.Ile305Met) c.912A>G (p.Ile304Met) n.1137A>G c.888A>G (p.Ile296Met) c.981A>G (p.Ile327Met) c.660A>G (p.Ile220Met) c.960A>G (p.Ile320Met) c.963A>G (p.Ile321Met) c.642A>G (p.Ile214Met) c.933A>G (p.Ile311Met) c.807A>G (p.Ile269Met) c.*307A>G (n.*307A>G) c.474A>G (p.Ile158Met) c.825A>G (p.Ile275Met) c.978A>G (p.Ile326Met) c.930A>G (p.Ile310Met) c.813A>G (p.Ile271Met) c.795A>G (p.Ile265Met) | |
| 3 | g.69956480A>T | CA434306335 | MITF | c.915A>T (p.Ile305=) c.912A>T (p.Ile304=) n.1137A>T c.888A>T (p.Ile296=) c.981A>T (p.Ile327=) c.660A>T (p.Ile220=) c.960A>T (p.Ile320=) c.963A>T (p.Ile321=) c.642A>T (p.Ile214=) c.933A>T (p.Ile311=) c.807A>T (p.Ile269=) c.*307A>T (n.*307A>T) c.474A>T (p.Ile158=) c.825A>T (p.Ile275=) c.978A>T (p.Ile326=) c.930A>T (p.Ile310=) c.813A>T (p.Ile271=) c.795A>T (p.Ile265=) | |
| 3 | g.69956482del | CA2586972647 | MITF | c.917del (p.Asn306MetfsTer7) c.914del (p.Asn305MetfsTer7) n.1139del c.890del (p.Asn297MetfsTer7) c.983del (p.Asn328MetfsTer7) c.662del (p.Asn221MetfsTer7) c.962del (p.Asn321MetfsTer7) c.965del (p.Asn322MetfsTer7) c.644del (p.Asn215MetfsTer7) c.935del (p.Asn312MetfsTer7) c.809del (p.Asn270MetfsTer7) c.*309del (n.*309del) c.476del (p.Asn159MetfsTer7) c.827del (p.Asn276MetfsTer7) c.980del (p.Asn327MetfsTer7) c.932del (p.Asn311MetfsTer7) c.815del (p.Asn272MetfsTer7) c.797del (p.Asn266MetfsTer7) | |
| 3 | g.69956481A>C | CA353561746 | MITF | c.916A>C (p.Asn306His) c.913A>C (p.Asn305His) n.1138A>C c.889A>C (p.Asn297His) c.982A>C (p.Asn328His) c.661A>C (p.Asn221His) c.961A>C (p.Asn321His) c.964A>C (p.Asn322His) c.643A>C (p.Asn215His) c.934A>C (p.Asn312His) c.808A>C (p.Asn270His) c.*308A>C (n.*308A>C) c.475A>C (p.Asn159His) c.826A>C (p.Asn276His) c.979A>C (p.Asn327His) c.931A>C (p.Asn311His) c.814A>C (p.Asn272His) c.796A>C (p.Asn266His) | |
| 3 | g.69956481A>G | CA353561747 | MITF | c.916A>G (p.Asn306Asp) c.913A>G (p.Asn305Asp) n.1138A>G c.889A>G (p.Asn297Asp) c.982A>G (p.Asn328Asp) c.661A>G (p.Asn221Asp) c.961A>G (p.Asn321Asp) c.964A>G (p.Asn322Asp) c.643A>G (p.Asn215Asp) c.934A>G (p.Asn312Asp) c.808A>G (p.Asn270Asp) c.*308A>G (n.*308A>G) c.475A>G (p.Asn159Asp) c.826A>G (p.Asn276Asp) c.979A>G (p.Asn327Asp) c.931A>G (p.Asn311Asp) c.814A>G (p.Asn272Asp) c.796A>G (p.Asn266Asp) | |
| 3 | g.69956481A>T | CA353561748 | MITF | c.916A>T (p.Asn306Tyr) c.913A>T (p.Asn305Tyr) n.1138A>T c.889A>T (p.Asn297Tyr) c.982A>T (p.Asn328Tyr) c.661A>T (p.Asn221Tyr) c.961A>T (p.Asn321Tyr) c.964A>T (p.Asn322Tyr) c.643A>T (p.Asn215Tyr) c.934A>T (p.Asn312Tyr) c.808A>T (p.Asn270Tyr) c.*308A>T (n.*308A>T) c.475A>T (p.Asn159Tyr) c.826A>T (p.Asn276Tyr) c.979A>T (p.Asn327Tyr) c.931A>T (p.Asn311Tyr) c.814A>T (p.Asn272Tyr) c.796A>T (p.Asn266Tyr) |