| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69956460C>A | CA434306323 | MITF | c.895C>A (p.Arg299=) c.892C>A (p.Arg298=) n.1117C>A c.868C>A (p.Arg290=) c.961C>A (p.Arg321=) c.640C>A (p.Arg214=) c.940C>A (p.Arg314=) c.943C>A (p.Arg315=) c.622C>A (p.Arg208=) c.913C>A (p.Arg305=) c.787C>A (p.Arg263=) c.*287C>A (n.*287C>A) c.454C>A (p.Arg152=) c.805C>A (p.Arg269=) c.958C>A (p.Arg320=) c.910C>A (p.Arg304=) c.793C>A (p.Arg265=) c.775C>A (p.Arg259=) | |
| 3 | g.69956460C= | CA1373447499 | MITF | c.895C= (p.Arg299=) c.892C= (p.Arg298=) n.1117C= c.868C= (p.Arg290=) c.961C= (p.Arg321=) c.640C= (p.Arg214=) c.940C= (p.Arg314=) c.943C= (p.Arg315=) c.622C= (p.Arg208=) c.913C= (p.Arg305=) c.787C= (p.Arg263=) c.*287C= (n.*287C=) c.454C= (p.Arg152=) c.805C= (p.Arg269=) c.958C= (p.Arg320=) c.910C= (p.Arg304=) c.793C= (p.Arg265=) c.775C= (p.Arg259=) | |
| 3 | g.69956460C>G | CA353561699 | MITF | c.895C>G (p.Arg299Gly) c.892C>G (p.Arg298Gly) n.1117C>G c.868C>G (p.Arg290Gly) c.961C>G (p.Arg321Gly) c.640C>G (p.Arg214Gly) c.940C>G (p.Arg314Gly) c.943C>G (p.Arg315Gly) c.622C>G (p.Arg208Gly) c.913C>G (p.Arg305Gly) c.787C>G (p.Arg263Gly) c.*287C>G (n.*287C>G) c.454C>G (p.Arg152Gly) c.805C>G (p.Arg269Gly) c.958C>G (p.Arg320Gly) c.910C>G (p.Arg304Gly) c.793C>G (p.Arg265Gly) c.775C>G (p.Arg259Gly) | |
| 3 | g.69956460C>T | CA123834 | MITF | c.895C>T (p.Arg299Ter) c.892C>T (p.Arg298Ter) n.1117C>T c.868C>T (p.Arg290Ter) c.961C>T (p.Arg321Ter) c.640C>T (p.Arg214Ter) c.940C>T (p.Arg314Ter) c.943C>T (p.Arg315Ter) c.622C>T (p.Arg208Ter) c.913C>T (p.Arg305Ter) c.787C>T (p.Arg263Ter) c.*287C>T (n.*287C>T) c.454C>T (p.Arg152Ter) c.805C>T (p.Arg269Ter) c.958C>T (p.Arg320Ter) c.910C>T (p.Arg304Ter) c.793C>T (p.Arg265Ter) c.775C>T (p.Arg259Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69956460_69956463delinsCGAA | CA1373447503 | MITF | c.895_898delinsCGAA (p.Arg299=) c.892_895delinsCGAA (p.Arg298=) n.1117_1120delinsCGAA c.868_871delinsCGAA (p.Arg290=) c.961_964delinsCGAA (p.Arg321=) c.640_643delinsCGAA (p.Arg214=) c.940_943delinsCGAA (p.Arg314=) c.943_946delinsCGAA (p.Arg315=) c.622_625delinsCGAA (p.Arg208=) c.913_916delinsCGAA (p.Arg305=) c.787_790delinsCGAA (p.Arg263=) c.*287_*290delinsCGAA (n.*287_*290delinsCGAA) c.454_457delinsCGAA (p.Arg152=) c.805_808delinsCGAA (p.Arg269=) c.958_961delinsCGAA (p.Arg320=) c.910_913delinsCGAA (p.Arg304=) c.793_796delinsCGAA (p.Arg265=) c.775_778delinsCGAA (p.Arg259=) | |
| 3 | g.69956461G>A | CA353561700 | MITF | c.896G>A (p.Arg299Gln) c.893G>A (p.Arg298Gln) n.1118G>A c.869G>A (p.Arg290Gln) c.962G>A (p.Arg321Gln) c.641G>A (p.Arg214Gln) c.941G>A (p.Arg314Gln) c.944G>A (p.Arg315Gln) c.623G>A (p.Arg208Gln) c.914G>A (p.Arg305Gln) c.788G>A (p.Arg263Gln) c.*288G>A (n.*288G>A) c.455G>A (p.Arg152Gln) c.806G>A (p.Arg269Gln) c.959G>A (p.Arg320Gln) c.911G>A (p.Arg304Gln) c.794G>A (p.Arg265Gln) c.776G>A (p.Arg259Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69956461G>C | CA353561701 | MITF | c.896G>C (p.Arg299Pro) c.893G>C (p.Arg298Pro) n.1118G>C c.869G>C (p.Arg290Pro) c.962G>C (p.Arg321Pro) c.641G>C (p.Arg214Pro) c.941G>C (p.Arg314Pro) c.944G>C (p.Arg315Pro) c.623G>C (p.Arg208Pro) c.914G>C (p.Arg305Pro) c.788G>C (p.Arg263Pro) c.*288G>C (n.*288G>C) c.455G>C (p.Arg152Pro) c.806G>C (p.Arg269Pro) c.959G>C (p.Arg320Pro) c.911G>C (p.Arg304Pro) c.794G>C (p.Arg265Pro) c.776G>C (p.Arg259Pro) | |
| 3 | g.69956461G= | CA1373447511 | MITF | c.896G= (p.Arg299=) c.893G= (p.Arg298=) n.1118G= c.869G= (p.Arg290=) c.962G= (p.Arg321=) c.641G= (p.Arg214=) c.941G= (p.Arg314=) c.944G= (p.Arg315=) c.623G= (p.Arg208=) c.914G= (p.Arg305=) c.788G= (p.Arg263=) c.*288G= (n.*288G=) c.455G= (p.Arg152=) c.806G= (p.Arg269=) c.959G= (p.Arg320=) c.911G= (p.Arg304=) c.794G= (p.Arg265=) c.776G= (p.Arg259=) | |
| 3 | g.69956461G>T | CA353561702 | MITF | c.896G>T (p.Arg299Leu) c.893G>T (p.Arg298Leu) n.1118G>T c.869G>T (p.Arg290Leu) c.962G>T (p.Arg321Leu) c.641G>T (p.Arg214Leu) c.941G>T (p.Arg314Leu) c.944G>T (p.Arg315Leu) c.623G>T (p.Arg208Leu) c.914G>T (p.Arg305Leu) c.788G>T (p.Arg263Leu) c.*288G>T (n.*288G>T) c.455G>T (p.Arg152Leu) c.806G>T (p.Arg269Leu) c.959G>T (p.Arg320Leu) c.911G>T (p.Arg304Leu) c.794G>T (p.Arg265Leu) c.776G>T (p.Arg259Leu) | |
| 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.69956462A>C | CA434306324 | MITF | c.897A>C (p.Arg299=) c.894A>C (p.Arg298=) n.1119A>C c.870A>C (p.Arg290=) c.963A>C (p.Arg321=) c.642A>C (p.Arg214=) c.942A>C (p.Arg314=) c.945A>C (p.Arg315=) c.624A>C (p.Arg208=) c.915A>C (p.Arg305=) c.789A>C (p.Arg263=) c.*289A>C (n.*289A>C) c.456A>C (p.Arg152=) c.807A>C (p.Arg269=) c.960A>C (p.Arg320=) c.912A>C (p.Arg304=) c.795A>C (p.Arg265=) c.777A>C (p.Arg259=) | |
| 3 | g.69956462A>G | CA434306325 | MITF | c.897A>G (p.Arg299=) c.894A>G (p.Arg298=) n.1119A>G c.870A>G (p.Arg290=) c.963A>G (p.Arg321=) c.642A>G (p.Arg214=) c.942A>G (p.Arg314=) c.945A>G (p.Arg315=) c.624A>G (p.Arg208=) c.915A>G (p.Arg305=) c.789A>G (p.Arg263=) c.*289A>G (n.*289A>G) c.456A>G (p.Arg152=) c.807A>G (p.Arg269=) c.960A>G (p.Arg320=) c.912A>G (p.Arg304=) c.795A>G (p.Arg265=) c.777A>G (p.Arg259=) | gnomAD v4 |
| 3 | g.69956462A>T | CA434306326 | MITF | c.897A>T (p.Arg299=) c.894A>T (p.Arg298=) n.1119A>T c.870A>T (p.Arg290=) c.963A>T (p.Arg321=) c.642A>T (p.Arg214=) c.942A>T (p.Arg314=) c.945A>T (p.Arg315=) c.624A>T (p.Arg208=) c.915A>T (p.Arg305=) c.789A>T (p.Arg263=) c.*289A>T (n.*289A>T) c.456A>T (p.Arg152=) c.807A>T (p.Arg269=) c.960A>T (p.Arg320=) c.912A>T (p.Arg304=) c.795A>T (p.Arg265=) c.777A>T (p.Arg259=) | |
| 3 | g.69956463A>C | CA434306327 | MITF | c.898A>C (p.Arg300=) c.895A>C (p.Arg299=) n.1120A>C c.871A>C (p.Arg291=) c.964A>C (p.Arg322=) c.643A>C (p.Arg215=) c.943A>C (p.Arg315=) c.946A>C (p.Arg316=) c.625A>C (p.Arg209=) c.916A>C (p.Arg306=) c.790A>C (p.Arg264=) c.*290A>C (n.*290A>C) c.457A>C (p.Arg153=) c.808A>C (p.Arg270=) c.961A>C (p.Arg321=) c.913A>C (p.Arg305=) c.796A>C (p.Arg266=) c.778A>C (p.Arg260=) | |
| 3 | g.69956463A>G | CA353561703 | MITF | c.898A>G (p.Arg300Gly) c.895A>G (p.Arg299Gly) n.1120A>G c.871A>G (p.Arg291Gly) c.964A>G (p.Arg322Gly) c.643A>G (p.Arg215Gly) c.943A>G (p.Arg315Gly) c.946A>G (p.Arg316Gly) c.625A>G (p.Arg209Gly) c.916A>G (p.Arg306Gly) c.790A>G (p.Arg264Gly) c.*290A>G (n.*290A>G) c.457A>G (p.Arg153Gly) c.808A>G (p.Arg270Gly) c.961A>G (p.Arg321Gly) c.913A>G (p.Arg305Gly) c.796A>G (p.Arg266Gly) c.778A>G (p.Arg260Gly) | ClinVar |
| 3 | g.69956463A>T | CA353561704 | MITF | c.898A>T (p.Arg300Ter) c.895A>T (p.Arg299Ter) n.1120A>T c.871A>T (p.Arg291Ter) c.964A>T (p.Arg322Ter) c.643A>T (p.Arg215Ter) c.943A>T (p.Arg315Ter) c.946A>T (p.Arg316Ter) c.625A>T (p.Arg209Ter) c.916A>T (p.Arg306Ter) c.790A>T (p.Arg264Ter) c.*290A>T (n.*290A>T) c.457A>T (p.Arg153Ter) c.808A>T (p.Arg270Ter) c.961A>T (p.Arg321Ter) c.913A>T (p.Arg305Ter) c.796A>T (p.Arg266Ter) c.778A>T (p.Arg260Ter) | |
| 3 | g.69956464G>A | CA353561705 | MITF | c.899G>A (p.Arg300Lys) c.896G>A (p.Arg299Lys) n.1121G>A c.872G>A (p.Arg291Lys) c.965G>A (p.Arg322Lys) c.644G>A (p.Arg215Lys) c.944G>A (p.Arg315Lys) c.947G>A (p.Arg316Lys) c.626G>A (p.Arg209Lys) c.917G>A (p.Arg306Lys) c.791G>A (p.Arg264Lys) c.*291G>A (n.*291G>A) c.458G>A (p.Arg153Lys) c.809G>A (p.Arg270Lys) c.962G>A (p.Arg321Lys) c.914G>A (p.Arg305Lys) c.797G>A (p.Arg266Lys) c.779G>A (p.Arg260Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.69956464G>C | CA353561706 | MITF | c.899G>C (p.Arg300Thr) c.896G>C (p.Arg299Thr) n.1121G>C c.872G>C (p.Arg291Thr) c.965G>C (p.Arg322Thr) c.644G>C (p.Arg215Thr) c.944G>C (p.Arg315Thr) c.947G>C (p.Arg316Thr) c.626G>C (p.Arg209Thr) c.917G>C (p.Arg306Thr) c.791G>C (p.Arg264Thr) c.*291G>C (n.*291G>C) c.458G>C (p.Arg153Thr) c.809G>C (p.Arg270Thr) c.962G>C (p.Arg321Thr) c.914G>C (p.Arg305Thr) c.797G>C (p.Arg266Thr) c.779G>C (p.Arg260Thr) | |
| 3 | g.69956464G= | CA1373447514 | MITF | c.899G= (p.Arg300=) c.896G= (p.Arg299=) n.1121G= c.872G= (p.Arg291=) c.965G= (p.Arg322=) c.644G= (p.Arg215=) c.944G= (p.Arg315=) c.947G= (p.Arg316=) c.626G= (p.Arg209=) c.917G= (p.Arg306=) c.791G= (p.Arg264=) c.*291G= (n.*291G=) c.458G= (p.Arg153=) c.809G= (p.Arg270=) c.962G= (p.Arg321=) c.914G= (p.Arg305=) c.797G= (p.Arg266=) c.779G= (p.Arg260=) | |
| 3 | g.69956464G>T | CA353561707 | MITF | c.899G>T (p.Arg300Ile) c.896G>T (p.Arg299Ile) n.1121G>T c.872G>T (p.Arg291Ile) c.965G>T (p.Arg322Ile) c.644G>T (p.Arg215Ile) c.944G>T (p.Arg315Ile) c.947G>T (p.Arg316Ile) c.626G>T (p.Arg209Ile) c.917G>T (p.Arg306Ile) c.791G>T (p.Arg264Ile) c.*291G>T (n.*291G>T) c.458G>T (p.Arg153Ile) c.809G>T (p.Arg270Ile) c.962G>T (p.Arg321Ile) c.914G>T (p.Arg305Ile) c.797G>T (p.Arg266Ile) c.779G>T (p.Arg260Ile) | |
| 3 | g.69956464_69956465delinsGA | CA1373447515 | MITF | c.899_900delinsGA (p.Arg300=) c.896_897delinsGA (p.Arg299=) n.1121_1122delinsGA c.872_873delinsGA (p.Arg291=) c.965_966delinsGA (p.Arg322=) c.644_645delinsGA (p.Arg215=) c.944_945delinsGA (p.Arg315=) c.947_948delinsGA (p.Arg316=) c.626_627delinsGA (p.Arg209=) c.917_918delinsGA (p.Arg306=) c.791_792delinsGA (p.Arg264=) c.*291_*292delinsGA (n.*291_*292delinsGA) c.458_459delinsGA (p.Arg153=) c.809_810delinsGA (p.Arg270=) c.962_963delinsGA (p.Arg321=) c.914_915delinsGA (p.Arg305=) c.797_798delinsGA (p.Arg266=) c.779_780delinsGA (p.Arg260=) | |
| 3 | g.69956465A>C | CA353561708 | MITF | c.900A>C (p.Arg300Ser) c.897A>C (p.Arg299Ser) n.1122A>C c.873A>C (p.Arg291Ser) c.966A>C (p.Arg322Ser) c.645A>C (p.Arg215Ser) c.945A>C (p.Arg315Ser) c.948A>C (p.Arg316Ser) c.627A>C (p.Arg209Ser) c.918A>C (p.Arg306Ser) c.792A>C (p.Arg264Ser) c.*292A>C (n.*292A>C) c.459A>C (p.Arg153Ser) c.810A>C (p.Arg270Ser) c.963A>C (p.Arg321Ser) c.915A>C (p.Arg305Ser) c.798A>C (p.Arg266Ser) c.780A>C (p.Arg260Ser) | |
| 3 | g.69956465A>G | CA434306328 | MITF | c.900A>G (p.Arg300=) c.897A>G (p.Arg299=) n.1122A>G c.873A>G (p.Arg291=) c.966A>G (p.Arg322=) c.645A>G (p.Arg215=) c.945A>G (p.Arg315=) c.948A>G (p.Arg316=) c.627A>G (p.Arg209=) c.918A>G (p.Arg306=) c.792A>G (p.Arg264=) c.*292A>G (n.*292A>G) c.459A>G (p.Arg153=) c.810A>G (p.Arg270=) c.963A>G (p.Arg321=) c.915A>G (p.Arg305=) c.798A>G (p.Arg266=) c.780A>G (p.Arg260=) | gnomAD v4 |
| 3 | g.69956465A>T | CA353561709 | MITF | c.900A>T (p.Arg300Ser) c.897A>T (p.Arg299Ser) n.1122A>T c.873A>T (p.Arg291Ser) c.966A>T (p.Arg322Ser) c.645A>T (p.Arg215Ser) c.945A>T (p.Arg315Ser) c.948A>T (p.Arg316Ser) c.627A>T (p.Arg209Ser) c.918A>T (p.Arg306Ser) c.792A>T (p.Arg264Ser) c.*292A>T (n.*292A>T) c.459A>T (p.Arg153Ser) c.810A>T (p.Arg270Ser) c.963A>T (p.Arg321Ser) c.915A>T (p.Arg305Ser) c.798A>T (p.Arg266Ser) c.780A>T (p.Arg260Ser) | |
| 3 | g.69956466del | CA1139658169 | MITF | c.901del (p.Arg301GlufsTer5) c.898del (p.Arg300GlufsTer5) n.1123del c.874del (p.Arg292GlufsTer5) c.967del (p.Arg323GlufsTer5) c.646del (p.Arg216GlufsTer5) c.946del (p.Arg316GlufsTer5) c.949del (p.Arg317GlufsTer5) c.628del (p.Arg210GlufsTer5) c.919del (p.Arg307GlufsTer5) c.793del (p.Arg265GlufsTer5) c.*293del (n.*293del) c.460del (p.Arg154GlufsTer5) c.811del (p.Arg271GlufsTer5) c.964del (p.Arg322GlufsTer5) c.916del (p.Arg306GlufsTer5) c.799del (p.Arg267GlufsTer5) c.781del (p.Arg261GlufsTer5) | ClinVar dbSNP |
| 3 | g.69956466A>C | CA434306329 | MITF | c.901A>C (p.Arg301=) c.898A>C (p.Arg300=) n.1123A>C c.874A>C (p.Arg292=) c.967A>C (p.Arg323=) c.646A>C (p.Arg216=) c.946A>C (p.Arg316=) c.949A>C (p.Arg317=) c.628A>C (p.Arg210=) c.919A>C (p.Arg307=) c.793A>C (p.Arg265=) c.*293A>C (n.*293A>C) c.460A>C (p.Arg154=) c.811A>C (p.Arg271=) c.964A>C (p.Arg322=) c.916A>C (p.Arg306=) c.799A>C (p.Arg267=) c.781A>C (p.Arg261=) | |
| 3 | g.69956466A>G | CA353561710 | MITF | c.901A>G (p.Arg301Gly) c.898A>G (p.Arg300Gly) n.1123A>G c.874A>G (p.Arg292Gly) c.967A>G (p.Arg323Gly) c.646A>G (p.Arg216Gly) c.946A>G (p.Arg316Gly) c.949A>G (p.Arg317Gly) c.628A>G (p.Arg210Gly) c.919A>G (p.Arg307Gly) c.793A>G (p.Arg265Gly) c.*293A>G (n.*293A>G) c.460A>G (p.Arg154Gly) c.811A>G (p.Arg271Gly) c.964A>G (p.Arg322Gly) c.916A>G (p.Arg306Gly) c.799A>G (p.Arg267Gly) c.781A>G (p.Arg261Gly) | |
| 3 | g.69956466A>T | CA353561711 | MITF | c.901A>T (p.Arg301Ter) c.898A>T (p.Arg300Ter) n.1123A>T c.874A>T (p.Arg292Ter) c.967A>T (p.Arg323Ter) c.646A>T (p.Arg216Ter) c.946A>T (p.Arg316Ter) c.949A>T (p.Arg317Ter) c.628A>T (p.Arg210Ter) c.919A>T (p.Arg307Ter) c.793A>T (p.Arg265Ter) c.*293A>T (n.*293A>T) c.460A>T (p.Arg154Ter) c.811A>T (p.Arg271Ter) c.964A>T (p.Arg322Ter) c.916A>T (p.Arg306Ter) c.799A>T (p.Arg267Ter) c.781A>T (p.Arg261Ter) | |
| 3 | g.69956467G>A | CA353561714 | MITF | c.902G>A (p.Arg301Lys) c.899G>A (p.Arg300Lys) n.1124G>A c.875G>A (p.Arg292Lys) c.968G>A (p.Arg323Lys) c.647G>A (p.Arg216Lys) c.947G>A (p.Arg316Lys) c.950G>A (p.Arg317Lys) c.629G>A (p.Arg210Lys) c.920G>A (p.Arg307Lys) c.794G>A (p.Arg265Lys) c.*294G>A (n.*294G>A) c.461G>A (p.Arg154Lys) c.812G>A (p.Arg271Lys) c.965G>A (p.Arg322Lys) c.917G>A (p.Arg306Lys) c.800G>A (p.Arg267Lys) c.782G>A (p.Arg261Lys) | |
| 3 | g.69956467G>C | CA353561712 | MITF | c.902G>C (p.Arg301Thr) c.899G>C (p.Arg300Thr) n.1124G>C c.875G>C (p.Arg292Thr) c.968G>C (p.Arg323Thr) c.647G>C (p.Arg216Thr) c.947G>C (p.Arg316Thr) c.950G>C (p.Arg317Thr) c.629G>C (p.Arg210Thr) c.920G>C (p.Arg307Thr) c.794G>C (p.Arg265Thr) c.*294G>C (n.*294G>C) c.461G>C (p.Arg154Thr) c.812G>C (p.Arg271Thr) c.965G>C (p.Arg322Thr) c.917G>C (p.Arg306Thr) c.800G>C (p.Arg267Thr) c.782G>C (p.Arg261Thr) | |
| 3 | g.69956467G>T | CA353561713 | MITF | c.902G>T (p.Arg301Ile) c.899G>T (p.Arg300Ile) n.1124G>T c.875G>T (p.Arg292Ile) c.968G>T (p.Arg323Ile) c.647G>T (p.Arg216Ile) c.947G>T (p.Arg316Ile) c.950G>T (p.Arg317Ile) c.629G>T (p.Arg210Ile) c.920G>T (p.Arg307Ile) c.794G>T (p.Arg265Ile) c.*294G>T (n.*294G>T) c.461G>T (p.Arg154Ile) c.812G>T (p.Arg271Ile) c.965G>T (p.Arg322Ile) c.917G>T (p.Arg306Ile) c.800G>T (p.Arg267Ile) c.782G>T (p.Arg261Ile) | |
| 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) | |
| 3 | g.69956482A>C | CA353561749 | MITF | c.917A>C (p.Asn306Thr) c.914A>C (p.Asn305Thr) n.1139A>C c.890A>C (p.Asn297Thr) c.983A>C (p.Asn328Thr) c.662A>C (p.Asn221Thr) c.962A>C (p.Asn321Thr) c.965A>C (p.Asn322Thr) c.644A>C (p.Asn215Thr) c.935A>C (p.Asn312Thr) c.809A>C (p.Asn270Thr) c.*309A>C (n.*309A>C) c.476A>C (p.Asn159Thr) c.827A>C (p.Asn276Thr) c.980A>C (p.Asn327Thr) c.932A>C (p.Asn311Thr) c.815A>C (p.Asn272Thr) c.797A>C (p.Asn266Thr) | |
| 3 | g.69956482A>G | CA353561750 | MITF | c.917A>G (p.Asn306Ser) c.914A>G (p.Asn305Ser) n.1139A>G c.890A>G (p.Asn297Ser) c.983A>G (p.Asn328Ser) c.662A>G (p.Asn221Ser) c.962A>G (p.Asn321Ser) c.965A>G (p.Asn322Ser) c.644A>G (p.Asn215Ser) c.935A>G (p.Asn312Ser) c.809A>G (p.Asn270Ser) c.*309A>G (n.*309A>G) c.476A>G (p.Asn159Ser) c.827A>G (p.Asn276Ser) c.980A>G (p.Asn327Ser) c.932A>G (p.Asn311Ser) c.815A>G (p.Asn272Ser) c.797A>G (p.Asn266Ser) | |
| 3 | g.69956482A>T | CA353561751 | MITF | c.917A>T (p.Asn306Ile) c.914A>T (p.Asn305Ile) n.1139A>T c.890A>T (p.Asn297Ile) c.983A>T (p.Asn328Ile) c.662A>T (p.Asn221Ile) c.962A>T (p.Asn321Ile) c.965A>T (p.Asn322Ile) c.644A>T (p.Asn215Ile) c.935A>T (p.Asn312Ile) c.809A>T (p.Asn270Ile) c.*309A>T (n.*309A>T) c.476A>T (p.Asn159Ile) c.827A>T (p.Asn276Ile) c.980A>T (p.Asn327Ile) c.932A>T (p.Asn311Ile) c.815A>T (p.Asn272Ile) c.797A>T (p.Asn266Ile) | |
| 3 | g.69956483T>A | CA353561752 | MITF | c.918T>A (p.Asn306Lys) c.915T>A (p.Asn305Lys) n.1140T>A c.891T>A (p.Asn297Lys) c.984T>A (p.Asn328Lys) c.663T>A (p.Asn221Lys) c.963T>A (p.Asn321Lys) c.966T>A (p.Asn322Lys) c.645T>A (p.Asn215Lys) c.936T>A (p.Asn312Lys) c.810T>A (p.Asn270Lys) c.*310T>A (n.*310T>A) c.477T>A (p.Asn159Lys) c.828T>A (p.Asn276Lys) c.981T>A (p.Asn327Lys) c.933T>A (p.Asn311Lys) c.816T>A (p.Asn272Lys) c.798T>A (p.Asn266Lys) | |
| 3 | g.69956483T>C | CA434306337 | MITF | c.918T>C (p.Asn306=) c.915T>C (p.Asn305=) n.1140T>C c.891T>C (p.Asn297=) c.984T>C (p.Asn328=) c.663T>C (p.Asn221=) c.963T>C (p.Asn321=) c.966T>C (p.Asn322=) c.645T>C (p.Asn215=) c.936T>C (p.Asn312=) c.810T>C (p.Asn270=) c.*310T>C (n.*310T>C) c.477T>C (p.Asn159=) c.828T>C (p.Asn276=) c.981T>C (p.Asn327=) c.933T>C (p.Asn311=) c.816T>C (p.Asn272=) c.798T>C (p.Asn266=) | dbSNP |
| 3 | g.69956483T>G | CA353561753 | MITF | c.918T>G (p.Asn306Lys) c.915T>G (p.Asn305Lys) n.1140T>G c.891T>G (p.Asn297Lys) c.984T>G (p.Asn328Lys) c.663T>G (p.Asn221Lys) c.963T>G (p.Asn321Lys) c.966T>G (p.Asn322Lys) c.645T>G (p.Asn215Lys) c.936T>G (p.Asn312Lys) c.810T>G (p.Asn270Lys) c.*310T>G (n.*310T>G) c.477T>G (p.Asn159Lys) c.828T>G (p.Asn276Lys) c.981T>G (p.Asn327Lys) c.933T>G (p.Asn311Lys) c.816T>G (p.Asn272Lys) c.798T>G (p.Asn266Lys) | |
| 3 | g.69956483T= | CA1373447855 | MITF | c.918T= (p.Asn306=) c.915T= (p.Asn305=) n.1140T= c.891T= (p.Asn297=) c.984T= (p.Asn328=) c.663T= (p.Asn221=) c.963T= (p.Asn321=) c.966T= (p.Asn322=) c.645T= (p.Asn215=) c.936T= (p.Asn312=) c.810T= (p.Asn270=) c.*310T= (n.*310T=) c.477T= (p.Asn159=) c.828T= (p.Asn276=) c.981T= (p.Asn327=) c.933T= (p.Asn311=) c.816T= (p.Asn272=) c.798T= (p.Asn266=) | |
| 3 | g.69956484G>A | CA353561754 | MITF | c.919G>A (p.Asp307Asn) c.916G>A (p.Asp306Asn) n.1141G>A c.892G>A (p.Asp298Asn) c.985G>A (p.Asp329Asn) c.664G>A (p.Asp222Asn) c.964G>A (p.Asp322Asn) c.967G>A (p.Asp323Asn) c.646G>A (p.Asp216Asn) c.937G>A (p.Asp313Asn) c.811G>A (p.Asp271Asn) c.*311G>A (n.*311G>A) c.478G>A (p.Asp160Asn) c.829G>A (p.Asp277Asn) c.982G>A (p.Asp328Asn) c.934G>A (p.Asp312Asn) c.817G>A (p.Asp273Asn) c.799G>A (p.Asp267Asn) | |
| 3 | g.69956484G>C | CA353561755 | MITF | c.919G>C (p.Asp307His) c.916G>C (p.Asp306His) n.1141G>C c.892G>C (p.Asp298His) c.985G>C (p.Asp329His) c.664G>C (p.Asp222His) c.964G>C (p.Asp322His) c.967G>C (p.Asp323His) c.646G>C (p.Asp216His) c.937G>C (p.Asp313His) c.811G>C (p.Asp271His) c.*311G>C (n.*311G>C) c.478G>C (p.Asp160His) c.829G>C (p.Asp277His) c.982G>C (p.Asp328His) c.934G>C (p.Asp312His) c.817G>C (p.Asp273His) c.799G>C (p.Asp267His) | |
| 3 | g.69956484G>T | CA353561756 | MITF | c.919G>T (p.Asp307Tyr) c.916G>T (p.Asp306Tyr) n.1141G>T c.892G>T (p.Asp298Tyr) c.985G>T (p.Asp329Tyr) c.664G>T (p.Asp222Tyr) c.964G>T (p.Asp322Tyr) c.967G>T (p.Asp323Tyr) c.646G>T (p.Asp216Tyr) c.937G>T (p.Asp313Tyr) c.811G>T (p.Asp271Tyr) c.*311G>T (n.*311G>T) c.478G>T (p.Asp160Tyr) c.829G>T (p.Asp277Tyr) c.982G>T (p.Asp328Tyr) c.934G>T (p.Asp312Tyr) c.817G>T (p.Asp273Tyr) c.799G>T (p.Asp267Tyr) | |
| 3 | g.69956485A= | CA1373447859 | MITF | c.920A= (p.Asp307=) c.917A= (p.Asp306=) n.1142A= c.893A= (p.Asp298=) c.986A= (p.Asp329=) c.665A= (p.Asp222=) c.965A= (p.Asp322=) c.968A= (p.Asp323=) c.647A= (p.Asp216=) c.938A= (p.Asp313=) c.812A= (p.Asp271=) c.*312A= (n.*312A=) c.479A= (p.Asp160=) c.830A= (p.Asp277=) c.983A= (p.Asp328=) c.935A= (p.Asp312=) c.818A= (p.Asp273=) c.800A= (p.Asp267=) | |
| 3 | g.69956485A>C | CA353561758 | MITF | c.920A>C (p.Asp307Ala) c.917A>C (p.Asp306Ala) n.1142A>C c.893A>C (p.Asp298Ala) c.986A>C (p.Asp329Ala) c.665A>C (p.Asp222Ala) c.965A>C (p.Asp322Ala) c.968A>C (p.Asp323Ala) c.647A>C (p.Asp216Ala) c.938A>C (p.Asp313Ala) c.812A>C (p.Asp271Ala) c.*312A>C (n.*312A>C) c.479A>C (p.Asp160Ala) c.830A>C (p.Asp277Ala) c.983A>C (p.Asp328Ala) c.935A>C (p.Asp312Ala) c.818A>C (p.Asp273Ala) c.800A>C (p.Asp267Ala) | |
| 3 | g.69956485A>G | CA77002596 | MITF | c.920A>G (p.Asp307Gly) c.917A>G (p.Asp306Gly) n.1142A>G c.893A>G (p.Asp298Gly) c.986A>G (p.Asp329Gly) c.665A>G (p.Asp222Gly) c.965A>G (p.Asp322Gly) c.968A>G (p.Asp323Gly) c.647A>G (p.Asp216Gly) c.938A>G (p.Asp313Gly) c.812A>G (p.Asp271Gly) c.*312A>G (n.*312A>G) c.479A>G (p.Asp160Gly) c.830A>G (p.Asp277Gly) c.983A>G (p.Asp328Gly) c.935A>G (p.Asp312Gly) c.818A>G (p.Asp273Gly) c.800A>G (p.Asp267Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69956485A>T | CA353561757 | MITF | c.920A>T (p.Asp307Val) c.917A>T (p.Asp306Val) n.1142A>T c.893A>T (p.Asp298Val) c.986A>T (p.Asp329Val) c.665A>T (p.Asp222Val) c.965A>T (p.Asp322Val) c.968A>T (p.Asp323Val) c.647A>T (p.Asp216Val) c.938A>T (p.Asp313Val) c.812A>T (p.Asp271Val) c.*312A>T (n.*312A>T) c.479A>T (p.Asp160Val) c.830A>T (p.Asp277Val) c.983A>T (p.Asp328Val) c.935A>T (p.Asp312Val) c.818A>T (p.Asp273Val) c.800A>T (p.Asp267Val) | |
| 3 | g.69956486C>A | CA353561759 | MITF | c.921C>A (p.Asp307Glu) c.918C>A (p.Asp306Glu) n.1143C>A c.894C>A (p.Asp298Glu) c.987C>A (p.Asp329Glu) c.666C>A (p.Asp222Glu) c.966C>A (p.Asp322Glu) c.969C>A (p.Asp323Glu) c.648C>A (p.Asp216Glu) c.939C>A (p.Asp313Glu) c.813C>A (p.Asp271Glu) c.*313C>A (n.*313C>A) c.480C>A (p.Asp160Glu) c.831C>A (p.Asp277Glu) c.984C>A (p.Asp328Glu) c.936C>A (p.Asp312Glu) c.819C>A (p.Asp273Glu) c.801C>A (p.Asp267Glu) | ClinVar dbSNP |
| 3 | g.69956486C= | CA1373447866 | MITF | c.921C= (p.Asp307=) c.918C= (p.Asp306=) n.1143C= c.894C= (p.Asp298=) c.987C= (p.Asp329=) c.666C= (p.Asp222=) c.966C= (p.Asp322=) c.969C= (p.Asp323=) c.648C= (p.Asp216=) c.939C= (p.Asp313=) c.813C= (p.Asp271=) c.*313C= (n.*313C=) c.480C= (p.Asp160=) c.831C= (p.Asp277=) c.984C= (p.Asp328=) c.936C= (p.Asp312=) c.819C= (p.Asp273=) c.801C= (p.Asp267=) | |
| 3 | g.69956486C>G | CA353561760 | MITF | c.921C>G (p.Asp307Glu) c.918C>G (p.Asp306Glu) n.1143C>G c.894C>G (p.Asp298Glu) c.987C>G (p.Asp329Glu) c.666C>G (p.Asp222Glu) c.966C>G (p.Asp322Glu) c.969C>G (p.Asp323Glu) c.648C>G (p.Asp216Glu) c.939C>G (p.Asp313Glu) c.813C>G (p.Asp271Glu) c.*313C>G (n.*313C>G) c.480C>G (p.Asp160Glu) c.831C>G (p.Asp277Glu) c.984C>G (p.Asp328Glu) c.936C>G (p.Asp312Glu) c.819C>G (p.Asp273Glu) c.801C>G (p.Asp267Glu) | |
| 3 | g.69956486C>T | CA434306338 | MITF | c.921C>T (p.Asp307=) c.918C>T (p.Asp306=) n.1143C>T c.894C>T (p.Asp298=) c.987C>T (p.Asp329=) c.666C>T (p.Asp222=) c.966C>T (p.Asp322=) c.969C>T (p.Asp323=) c.648C>T (p.Asp216=) c.939C>T (p.Asp313=) c.813C>T (p.Asp271=) c.*313C>T (n.*313C>T) c.480C>T (p.Asp160=) c.831C>T (p.Asp277=) c.984C>T (p.Asp328=) c.936C>T (p.Asp312=) c.819C>T (p.Asp273=) c.801C>T (p.Asp267=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.69956487C>A | CA353561761 | MITF | c.922C>A (p.Arg308Ser) c.919C>A (p.Arg307Ser) n.1144C>A c.895C>A (p.Arg299Ser) c.988C>A (p.Arg330Ser) c.667C>A (p.Arg223Ser) c.967C>A (p.Arg323Ser) c.970C>A (p.Arg324Ser) c.649C>A (p.Arg217Ser) c.940C>A (p.Arg314Ser) c.814C>A (p.Arg272Ser) c.*314C>A (n.*314C>A) c.481C>A (p.Arg161Ser) c.832C>A (p.Arg278Ser) c.985C>A (p.Arg329Ser) c.937C>A (p.Arg313Ser) c.820C>A (p.Arg274Ser) c.802C>A (p.Arg268Ser) | COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69956487C= | CA1373447871 | MITF | c.922C= (p.Arg308=) c.919C= (p.Arg307=) n.1144C= c.895C= (p.Arg299=) c.988C= (p.Arg330=) c.667C= (p.Arg223=) c.967C= (p.Arg323=) c.970C= (p.Arg324=) c.649C= (p.Arg217=) c.940C= (p.Arg314=) c.814C= (p.Arg272=) c.*314C= (n.*314C=) c.481C= (p.Arg161=) c.832C= (p.Arg278=) c.985C= (p.Arg329=) c.937C= (p.Arg313=) c.820C= (p.Arg274=) c.802C= (p.Arg268=) | |
| 3 | g.69956487C>G | CA353561762 | MITF | c.922C>G (p.Arg308Gly) c.919C>G (p.Arg307Gly) n.1144C>G c.895C>G (p.Arg299Gly) c.988C>G (p.Arg330Gly) c.667C>G (p.Arg223Gly) c.967C>G (p.Arg323Gly) c.970C>G (p.Arg324Gly) c.649C>G (p.Arg217Gly) c.940C>G (p.Arg314Gly) c.814C>G (p.Arg272Gly) c.*314C>G (n.*314C>G) c.481C>G (p.Arg161Gly) c.832C>G (p.Arg278Gly) c.985C>G (p.Arg329Gly) c.937C>G (p.Arg313Gly) c.820C>G (p.Arg274Gly) c.802C>G (p.Arg268Gly) | |
| 3 | g.69956487C>T | CA353561763 | MITF | c.922C>T (p.Arg308Cys) c.919C>T (p.Arg307Cys) n.1144C>T c.895C>T (p.Arg299Cys) c.988C>T (p.Arg330Cys) c.667C>T (p.Arg223Cys) c.967C>T (p.Arg323Cys) c.970C>T (p.Arg324Cys) c.649C>T (p.Arg217Cys) c.940C>T (p.Arg314Cys) c.814C>T (p.Arg272Cys) c.*314C>T (n.*314C>T) c.481C>T (p.Arg161Cys) c.832C>T (p.Arg278Cys) c.985C>T (p.Arg329Cys) c.937C>T (p.Arg313Cys) c.820C>T (p.Arg274Cys) c.802C>T (p.Arg268Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69956488G>A | CA2490524 | MITF | c.923G>A (p.Arg308His) c.920G>A (p.Arg307His) n.1145G>A c.896G>A (p.Arg299His) c.989G>A (p.Arg330His) c.668G>A (p.Arg223His) c.968G>A (p.Arg323His) c.971G>A (p.Arg324His) c.650G>A (p.Arg217His) c.941G>A (p.Arg314His) c.815G>A (p.Arg272His) c.*315G>A (n.*315G>A) c.482G>A (p.Arg161His) c.833G>A (p.Arg278His) c.986G>A (p.Arg329His) c.938G>A (p.Arg313His) c.821G>A (p.Arg274His) c.803G>A (p.Arg268His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69956488G>C | CA353561764 | MITF | c.923G>C (p.Arg308Pro) c.920G>C (p.Arg307Pro) n.1145G>C c.896G>C (p.Arg299Pro) c.989G>C (p.Arg330Pro) c.668G>C (p.Arg223Pro) c.968G>C (p.Arg323Pro) c.971G>C (p.Arg324Pro) c.650G>C (p.Arg217Pro) c.941G>C (p.Arg314Pro) c.815G>C (p.Arg272Pro) c.*315G>C (n.*315G>C) c.482G>C (p.Arg161Pro) c.833G>C (p.Arg278Pro) c.986G>C (p.Arg329Pro) c.938G>C (p.Arg313Pro) c.821G>C (p.Arg274Pro) c.803G>C (p.Arg268Pro) | |
| 3 | g.69956488G= | CA1373447879 | MITF | c.923G= (p.Arg308=) c.920G= (p.Arg307=) n.1145G= c.896G= (p.Arg299=) c.989G= (p.Arg330=) c.668G= (p.Arg223=) c.968G= (p.Arg323=) c.971G= (p.Arg324=) c.650G= (p.Arg217=) c.941G= (p.Arg314=) c.815G= (p.Arg272=) c.*315G= (n.*315G=) c.482G= (p.Arg161=) c.833G= (p.Arg278=) c.986G= (p.Arg329=) c.938G= (p.Arg313=) c.821G= (p.Arg274=) c.803G= (p.Arg268=) | |
| 3 | g.69956488G>T | CA16609660 | MITF | c.923G>T (p.Arg308Leu) c.920G>T (p.Arg307Leu) n.1145G>T c.896G>T (p.Arg299Leu) c.989G>T (p.Arg330Leu) c.668G>T (p.Arg223Leu) c.968G>T (p.Arg323Leu) c.971G>T (p.Arg324Leu) c.650G>T (p.Arg217Leu) c.941G>T (p.Arg314Leu) c.815G>T (p.Arg272Leu) c.*315G>T (n.*315G>T) c.482G>T (p.Arg161Leu) c.833G>T (p.Arg278Leu) c.986G>T (p.Arg329Leu) c.938G>T (p.Arg313Leu) c.821G>T (p.Arg274Leu) c.803G>T (p.Arg268Leu) | ClinVar dbSNP |
| 3 | g.69956489C>A | CA434306339 | MITF | c.924C>A (p.Arg308=) c.921C>A (p.Arg307=) n.1146C>A c.897C>A (p.Arg299=) c.990C>A (p.Arg330=) c.669C>A (p.Arg223=) c.969C>A (p.Arg323=) c.972C>A (p.Arg324=) c.651C>A (p.Arg217=) c.942C>A (p.Arg314=) c.816C>A (p.Arg272=) c.*316C>A (n.*316C>A) c.483C>A (p.Arg161=) c.834C>A (p.Arg278=) c.987C>A (p.Arg329=) c.939C>A (p.Arg313=) c.822C>A (p.Arg274=) c.804C>A (p.Arg268=) | |
| 3 | g.69956489C= | CA1373447885 | MITF | c.924C= (p.Arg308=) c.921C= (p.Arg307=) n.1146C= c.897C= (p.Arg299=) c.990C= (p.Arg330=) c.669C= (p.Arg223=) c.969C= (p.Arg323=) c.972C= (p.Arg324=) c.651C= (p.Arg217=) c.942C= (p.Arg314=) c.816C= (p.Arg272=) c.*316C= (n.*316C=) c.483C= (p.Arg161=) c.834C= (p.Arg278=) c.987C= (p.Arg329=) c.939C= (p.Arg313=) c.822C= (p.Arg274=) c.804C= (p.Arg268=) | |
| 3 | g.69956489C>G | CA434306341 | MITF | c.924C>G (p.Arg308=) c.921C>G (p.Arg307=) n.1146C>G c.897C>G (p.Arg299=) c.990C>G (p.Arg330=) c.669C>G (p.Arg223=) c.969C>G (p.Arg323=) c.972C>G (p.Arg324=) c.651C>G (p.Arg217=) c.942C>G (p.Arg314=) c.816C>G (p.Arg272=) c.*316C>G (n.*316C>G) c.483C>G (p.Arg161=) c.834C>G (p.Arg278=) c.987C>G (p.Arg329=) c.939C>G (p.Arg313=) c.822C>G (p.Arg274=) c.804C>G (p.Arg268=) | |
| 3 | g.69956489C>T | CA77002597 | MITF | c.924C>T (p.Arg308=) c.921C>T (p.Arg307=) n.1146C>T c.897C>T (p.Arg299=) c.990C>T (p.Arg330=) c.669C>T (p.Arg223=) c.969C>T (p.Arg323=) c.972C>T (p.Arg324=) c.651C>T (p.Arg217=) c.942C>T (p.Arg314=) c.816C>T (p.Arg272=) c.*316C>T (n.*316C>T) c.483C>T (p.Arg161=) c.834C>T (p.Arg278=) c.987C>T (p.Arg329=) c.939C>T (p.Arg313=) c.822C>T (p.Arg274=) c.804C>T (p.Arg268=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69956490A>C | CA353561765 | MITF | c.925A>C (p.Ile309Leu) c.922A>C (p.Ile308Leu) n.1147A>C c.898A>C (p.Ile300Leu) c.991A>C (p.Ile331Leu) c.670A>C (p.Ile224Leu) c.970A>C (p.Ile324Leu) c.973A>C (p.Ile325Leu) c.652A>C (p.Ile218Leu) c.943A>C (p.Ile315Leu) c.817A>C (p.Ile273Leu) c.*317A>C (n.*317A>C) c.484A>C (p.Ile162Leu) c.835A>C (p.Ile279Leu) c.988A>C (p.Ile330Leu) c.940A>C (p.Ile314Leu) c.823A>C (p.Ile275Leu) c.805A>C (p.Ile269Leu) | |
| 3 | g.69956490A>G | CA353561766 | MITF | c.925A>G (p.Ile309Val) c.922A>G (p.Ile308Val) n.1147A>G c.898A>G (p.Ile300Val) c.991A>G (p.Ile331Val) c.670A>G (p.Ile224Val) c.970A>G (p.Ile324Val) c.973A>G (p.Ile325Val) c.652A>G (p.Ile218Val) c.943A>G (p.Ile315Val) c.817A>G (p.Ile273Val) c.*317A>G (n.*317A>G) c.484A>G (p.Ile162Val) c.835A>G (p.Ile279Val) c.988A>G (p.Ile330Val) c.940A>G (p.Ile314Val) c.823A>G (p.Ile275Val) c.805A>G (p.Ile269Val) | |
| 3 | g.69956490A>T | CA353561767 | MITF | c.925A>T (p.Ile309Phe) c.922A>T (p.Ile308Phe) n.1147A>T c.898A>T (p.Ile300Phe) c.991A>T (p.Ile331Phe) c.670A>T (p.Ile224Phe) c.970A>T (p.Ile324Phe) c.973A>T (p.Ile325Phe) c.652A>T (p.Ile218Phe) c.943A>T (p.Ile315Phe) c.817A>T (p.Ile273Phe) c.*317A>T (n.*317A>T) c.484A>T (p.Ile162Phe) c.835A>T (p.Ile279Phe) c.988A>T (p.Ile330Phe) c.940A>T (p.Ile314Phe) c.823A>T (p.Ile275Phe) c.805A>T (p.Ile269Phe) | |
| 3 | g.69956491T>A | CA353561768 | MITF | c.926T>A (p.Ile309Asn) c.923T>A (p.Ile308Asn) n.1148T>A c.899T>A (p.Ile300Asn) c.992T>A (p.Ile331Asn) c.671T>A (p.Ile224Asn) c.971T>A (p.Ile324Asn) c.974T>A (p.Ile325Asn) c.653T>A (p.Ile218Asn) c.944T>A (p.Ile315Asn) c.818T>A (p.Ile273Asn) c.*318T>A (n.*318T>A) c.485T>A (p.Ile162Asn) c.836T>A (p.Ile279Asn) c.989T>A (p.Ile330Asn) c.941T>A (p.Ile314Asn) c.824T>A (p.Ile275Asn) c.806T>A (p.Ile269Asn) | |
| 3 | g.69956491T>C | CA353561769 | MITF | c.926T>C (p.Ile309Thr) c.923T>C (p.Ile308Thr) n.1148T>C c.899T>C (p.Ile300Thr) c.992T>C (p.Ile331Thr) c.671T>C (p.Ile224Thr) c.971T>C (p.Ile324Thr) c.974T>C (p.Ile325Thr) c.653T>C (p.Ile218Thr) c.944T>C (p.Ile315Thr) c.818T>C (p.Ile273Thr) c.*318T>C (n.*318T>C) c.485T>C (p.Ile162Thr) c.836T>C (p.Ile279Thr) c.989T>C (p.Ile330Thr) c.941T>C (p.Ile314Thr) c.824T>C (p.Ile275Thr) c.806T>C (p.Ile269Thr) | |
| 3 | g.69956491T>G | CA353561770 | MITF | c.926T>G (p.Ile309Ser) c.923T>G (p.Ile308Ser) n.1148T>G c.899T>G (p.Ile300Ser) c.992T>G (p.Ile331Ser) c.671T>G (p.Ile224Ser) c.971T>G (p.Ile324Ser) c.974T>G (p.Ile325Ser) c.653T>G (p.Ile218Ser) c.944T>G (p.Ile315Ser) c.818T>G (p.Ile273Ser) c.*318T>G (n.*318T>G) c.485T>G (p.Ile162Ser) c.836T>G (p.Ile279Ser) c.989T>G (p.Ile330Ser) c.941T>G (p.Ile314Ser) c.824T>G (p.Ile275Ser) c.806T>G (p.Ile269Ser) | |
| 3 | g.69956492T>A | CA434306342 | MITF | c.927T>A (p.Ile309=) c.924T>A (p.Ile308=) n.1149T>A c.900T>A (p.Ile300=) c.993T>A (p.Ile331=) c.672T>A (p.Ile224=) c.972T>A (p.Ile324=) c.975T>A (p.Ile325=) c.654T>A (p.Ile218=) c.945T>A (p.Ile315=) c.819T>A (p.Ile273=) c.*319T>A (n.*319T>A) c.486T>A (p.Ile162=) c.837T>A (p.Ile279=) c.990T>A (p.Ile330=) c.942T>A (p.Ile314=) c.825T>A (p.Ile275=) c.807T>A (p.Ile269=) | |
| 3 | g.69956492T>C | CA434306343 | MITF | c.927T>C (p.Ile309=) c.924T>C (p.Ile308=) n.1149T>C c.900T>C (p.Ile300=) c.993T>C (p.Ile331=) c.672T>C (p.Ile224=) c.972T>C (p.Ile324=) c.975T>C (p.Ile325=) c.654T>C (p.Ile218=) c.945T>C (p.Ile315=) c.819T>C (p.Ile273=) c.*319T>C (n.*319T>C) c.486T>C (p.Ile162=) c.837T>C (p.Ile279=) c.990T>C (p.Ile330=) c.942T>C (p.Ile314=) c.825T>C (p.Ile275=) c.807T>C (p.Ile269=) | |
| 3 | g.69956492T>G | CA353561771 | MITF | c.927T>G (p.Ile309Met) c.924T>G (p.Ile308Met) n.1149T>G c.900T>G (p.Ile300Met) c.993T>G (p.Ile331Met) c.672T>G (p.Ile224Met) c.972T>G (p.Ile324Met) c.975T>G (p.Ile325Met) c.654T>G (p.Ile218Met) c.945T>G (p.Ile315Met) c.819T>G (p.Ile273Met) c.*319T>G (n.*319T>G) c.486T>G (p.Ile162Met) c.837T>G (p.Ile279Met) c.990T>G (p.Ile330Met) c.942T>G (p.Ile314Met) c.825T>G (p.Ile275Met) c.807T>G (p.Ile269Met) | |
| 3 | g.69956492_69956493dup | CA2586972648 | MITF | c.927_928dup (p.Lys310IlefsTer4) c.924_925dup (p.Lys309IlefsTer4) n.1149_1150dup c.900_901dup (p.Lys301IlefsTer4) c.993_994dup (p.Lys332IlefsTer4) c.672_673dup (p.Lys225IlefsTer4) c.972_973dup (p.Lys325IlefsTer4) c.975_976dup (p.Lys326IlefsTer4) c.654_655dup (p.Lys219IlefsTer4) c.945_946dup (p.Lys316IlefsTer4) c.819_820dup (p.Lys274IlefsTer4) c.*319_*320dup (n.*319_*320dup) c.486_487dup (p.Lys163IlefsTer4) c.837_838dup (p.Lys280IlefsTer4) c.990_991dup (p.Lys331IlefsTer4) c.942_943dup (p.Lys315IlefsTer4) c.825_826dup (p.Lys276IlefsTer4) c.807_808dup (p.Lys270IlefsTer4) | |
| 3 | g.69956493A>C | CA353561772 | MITF | c.928A>C (p.Lys310Gln) c.925A>C (p.Lys309Gln) n.1150A>C c.901A>C (p.Lys301Gln) c.994A>C (p.Lys332Gln) c.673A>C (p.Lys225Gln) c.973A>C (p.Lys325Gln) c.976A>C (p.Lys326Gln) c.655A>C (p.Lys219Gln) c.946A>C (p.Lys316Gln) c.820A>C (p.Lys274Gln) c.*320A>C (n.*320A>C) c.487A>C (p.Lys163Gln) c.838A>C (p.Lys280Gln) c.991A>C (p.Lys331Gln) c.943A>C (p.Lys315Gln) c.826A>C (p.Lys276Gln) c.808A>C (p.Lys270Gln) | |
| 3 | g.69956493A>G | CA353561773 | MITF | c.928A>G (p.Lys310Glu) c.925A>G (p.Lys309Glu) n.1150A>G c.901A>G (p.Lys301Glu) c.994A>G (p.Lys332Glu) c.673A>G (p.Lys225Glu) c.973A>G (p.Lys325Glu) c.976A>G (p.Lys326Glu) c.655A>G (p.Lys219Glu) c.946A>G (p.Lys316Glu) c.820A>G (p.Lys274Glu) c.*320A>G (n.*320A>G) c.487A>G (p.Lys163Glu) c.838A>G (p.Lys280Glu) c.991A>G (p.Lys331Glu) c.943A>G (p.Lys315Glu) c.826A>G (p.Lys276Glu) c.808A>G (p.Lys270Glu) | |
| 3 | g.69956493A>T | CA353561774 | MITF | c.928A>T (p.Lys310Ter) c.925A>T (p.Lys309Ter) n.1150A>T c.901A>T (p.Lys301Ter) c.994A>T (p.Lys332Ter) c.673A>T (p.Lys225Ter) c.973A>T (p.Lys325Ter) c.976A>T (p.Lys326Ter) c.655A>T (p.Lys219Ter) c.946A>T (p.Lys316Ter) c.820A>T (p.Lys274Ter) c.*320A>T (n.*320A>T) c.487A>T (p.Lys163Ter) c.838A>T (p.Lys280Ter) c.991A>T (p.Lys331Ter) c.943A>T (p.Lys315Ter) c.826A>T (p.Lys276Ter) c.808A>T (p.Lys270Ter) | |
| 3 | g.69956494A= | CA1373447890 | MITF | c.929A= (p.Lys310=) c.926A= (p.Lys309=) n.1151A= c.902A= (p.Lys301=) c.995A= (p.Lys332=) c.674A= (p.Lys225=) c.974A= (p.Lys325=) c.977A= (p.Lys326=) c.656A= (p.Lys219=) c.947A= (p.Lys316=) c.821A= (p.Lys274=) c.*321A= (n.*321A=) c.488A= (p.Lys163=) c.839A= (p.Lys280=) c.992A= (p.Lys331=) c.944A= (p.Lys315=) c.827A= (p.Lys276=) c.809A= (p.Lys270=) | |
| 3 | g.69956494A>C | CA353561775 | MITF | c.929A>C (p.Lys310Thr) c.926A>C (p.Lys309Thr) n.1151A>C c.902A>C (p.Lys301Thr) c.995A>C (p.Lys332Thr) c.674A>C (p.Lys225Thr) c.974A>C (p.Lys325Thr) c.977A>C (p.Lys326Thr) c.656A>C (p.Lys219Thr) c.947A>C (p.Lys316Thr) c.821A>C (p.Lys274Thr) c.*321A>C (n.*321A>C) c.488A>C (p.Lys163Thr) c.839A>C (p.Lys280Thr) c.992A>C (p.Lys331Thr) c.944A>C (p.Lys315Thr) c.827A>C (p.Lys276Thr) c.809A>C (p.Lys270Thr) | |
| 3 | g.69956494A>G | CA353561776 | MITF | c.929A>G (p.Lys310Arg) c.926A>G (p.Lys309Arg) n.1151A>G c.902A>G (p.Lys301Arg) c.995A>G (p.Lys332Arg) c.674A>G (p.Lys225Arg) c.974A>G (p.Lys325Arg) c.977A>G (p.Lys326Arg) c.656A>G (p.Lys219Arg) c.947A>G (p.Lys316Arg) c.821A>G (p.Lys274Arg) c.*321A>G (n.*321A>G) c.488A>G (p.Lys163Arg) c.839A>G (p.Lys280Arg) c.992A>G (p.Lys331Arg) c.944A>G (p.Lys315Arg) c.827A>G (p.Lys276Arg) c.809A>G (p.Lys270Arg) | dbSNP |
| 3 | g.69956494A>T | CA353561777 | MITF | c.929A>T (p.Lys310Ile) c.926A>T (p.Lys309Ile) n.1151A>T c.902A>T (p.Lys301Ile) c.995A>T (p.Lys332Ile) c.674A>T (p.Lys225Ile) c.974A>T (p.Lys325Ile) c.977A>T (p.Lys326Ile) c.656A>T (p.Lys219Ile) c.947A>T (p.Lys316Ile) c.821A>T (p.Lys274Ile) c.*321A>T (n.*321A>T) c.488A>T (p.Lys163Ile) c.839A>T (p.Lys280Ile) c.992A>T (p.Lys331Ile) c.944A>T (p.Lys315Ile) c.827A>T (p.Lys276Ile) c.809A>T (p.Lys270Ile) | |
| 3 | g.69956495A= | CA1373447892 | MITF | c.930A= (p.Lys310=) c.927A= (p.Lys309=) n.1152A= c.903A= (p.Lys301=) c.996A= (p.Lys332=) c.675A= (p.Lys225=) c.975A= (p.Lys325=) c.978A= (p.Lys326=) c.657A= (p.Lys219=) c.948A= (p.Lys316=) c.822A= (p.Lys274=) c.*322A= (n.*322A=) c.489A= (p.Lys163=) c.840A= (p.Lys280=) c.993A= (p.Lys331=) c.945A= (p.Lys315=) c.828A= (p.Lys276=) c.810A= (p.Lys270=) | |
| 3 | g.69956495A>C | CA353561778 | MITF | c.930A>C (p.Lys310Asn) c.927A>C (p.Lys309Asn) n.1152A>C c.903A>C (p.Lys301Asn) c.996A>C (p.Lys332Asn) c.675A>C (p.Lys225Asn) c.975A>C (p.Lys325Asn) c.978A>C (p.Lys326Asn) c.657A>C (p.Lys219Asn) c.948A>C (p.Lys316Asn) c.822A>C (p.Lys274Asn) c.*322A>C (n.*322A>C) c.489A>C (p.Lys163Asn) c.840A>C (p.Lys280Asn) c.993A>C (p.Lys331Asn) c.945A>C (p.Lys315Asn) c.828A>C (p.Lys276Asn) c.810A>C (p.Lys270Asn) | |
| 3 | g.69956495A>G | CA434306346 | MITF | c.930A>G (p.Lys310=) c.927A>G (p.Lys309=) n.1152A>G c.903A>G (p.Lys301=) c.996A>G (p.Lys332=) c.675A>G (p.Lys225=) c.975A>G (p.Lys325=) c.978A>G (p.Lys326=) c.657A>G (p.Lys219=) c.948A>G (p.Lys316=) c.822A>G (p.Lys274=) c.*322A>G (n.*322A>G) c.489A>G (p.Lys163=) c.840A>G (p.Lys280=) c.993A>G (p.Lys331=) c.945A>G (p.Lys315=) c.828A>G (p.Lys276=) c.810A>G (p.Lys270=) | dbSNP |
| 3 | g.69956495A>T | CA353561779 | MITF | c.930A>T (p.Lys310Asn) c.927A>T (p.Lys309Asn) n.1152A>T c.903A>T (p.Lys301Asn) c.996A>T (p.Lys332Asn) c.675A>T (p.Lys225Asn) c.975A>T (p.Lys325Asn) c.978A>T (p.Lys326Asn) c.657A>T (p.Lys219Asn) c.948A>T (p.Lys316Asn) c.822A>T (p.Lys274Asn) c.*322A>T (n.*322A>T) c.489A>T (p.Lys163Asn) c.840A>T (p.Lys280Asn) c.993A>T (p.Lys331Asn) c.945A>T (p.Lys315Asn) c.828A>T (p.Lys276Asn) c.810A>T (p.Lys270Asn) | |
| 3 | g.69956496G>A | CA2490525 | MITF | c.931G>A (p.Glu311Lys) c.928G>A (p.Glu310Lys) n.1153G>A c.904G>A (p.Glu302Lys) c.997G>A (p.Glu333Lys) c.676G>A (p.Glu226Lys) c.976G>A (p.Glu326Lys) c.979G>A (p.Glu327Lys) c.658G>A (p.Glu220Lys) c.949G>A (p.Glu317Lys) c.823G>A (p.Glu275Lys) c.*323G>A (n.*323G>A) c.490G>A (p.Glu164Lys) c.841G>A (p.Glu281Lys) c.994G>A (p.Glu332Lys) c.946G>A (p.Glu316Lys) c.829G>A (p.Glu277Lys) c.811G>A (p.Glu271Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69956496G>C | CA353561780 | MITF | c.931G>C (p.Glu311Gln) c.928G>C (p.Glu310Gln) n.1153G>C c.904G>C (p.Glu302Gln) c.997G>C (p.Glu333Gln) c.676G>C (p.Glu226Gln) c.976G>C (p.Glu326Gln) c.979G>C (p.Glu327Gln) c.658G>C (p.Glu220Gln) c.949G>C (p.Glu317Gln) c.823G>C (p.Glu275Gln) c.*323G>C (n.*323G>C) c.490G>C (p.Glu164Gln) c.841G>C (p.Glu281Gln) c.994G>C (p.Glu332Gln) c.946G>C (p.Glu316Gln) c.829G>C (p.Glu277Gln) c.811G>C (p.Glu271Gln) | |
| 3 | g.69956496G= | CA1373447895 | MITF | c.931G= (p.Glu311=) c.928G= (p.Glu310=) n.1153G= c.904G= (p.Glu302=) c.997G= (p.Glu333=) c.676G= (p.Glu226=) c.976G= (p.Glu326=) c.979G= (p.Glu327=) c.658G= (p.Glu220=) c.949G= (p.Glu317=) c.823G= (p.Glu275=) c.*323G= (n.*323G=) c.490G= (p.Glu164=) c.841G= (p.Glu281=) c.994G= (p.Glu332=) c.946G= (p.Glu316=) c.829G= (p.Glu277=) c.811G= (p.Glu271=) | |
| 3 | g.69956496G>T | CA353561781 | MITF | c.931G>T (p.Glu311Ter) c.928G>T (p.Glu310Ter) n.1153G>T c.904G>T (p.Glu302Ter) c.997G>T (p.Glu333Ter) c.676G>T (p.Glu226Ter) c.976G>T (p.Glu326Ter) c.979G>T (p.Glu327Ter) c.658G>T (p.Glu220Ter) c.949G>T (p.Glu317Ter) c.823G>T (p.Glu275Ter) c.*323G>T (n.*323G>T) c.490G>T (p.Glu164Ter) c.841G>T (p.Glu281Ter) c.994G>T (p.Glu332Ter) c.946G>T (p.Glu316Ter) c.829G>T (p.Glu277Ter) c.811G>T (p.Glu271Ter) | ClinVar dbSNP |
| 3 | g.69956497A>C | CA353561782 | MITF | c.932A>C (p.Glu311Ala) c.929A>C (p.Glu310Ala) n.1154A>C c.905A>C (p.Glu302Ala) c.998A>C (p.Glu333Ala) c.677A>C (p.Glu226Ala) c.977A>C (p.Glu326Ala) c.980A>C (p.Glu327Ala) c.659A>C (p.Glu220Ala) c.950A>C (p.Glu317Ala) c.824A>C (p.Glu275Ala) c.*324A>C (n.*324A>C) c.491A>C (p.Glu164Ala) c.842A>C (p.Glu281Ala) c.995A>C (p.Glu332Ala) c.947A>C (p.Glu316Ala) c.830A>C (p.Glu277Ala) c.812A>C (p.Glu271Ala) | |
| 3 | g.69956497A>G | CA353561783 | MITF | c.932A>G (p.Glu311Gly) c.929A>G (p.Glu310Gly) n.1154A>G c.905A>G (p.Glu302Gly) c.998A>G (p.Glu333Gly) c.677A>G (p.Glu226Gly) c.977A>G (p.Glu326Gly) c.980A>G (p.Glu327Gly) c.659A>G (p.Glu220Gly) c.950A>G (p.Glu317Gly) c.824A>G (p.Glu275Gly) c.*324A>G (n.*324A>G) c.491A>G (p.Glu164Gly) c.842A>G (p.Glu281Gly) c.995A>G (p.Glu332Gly) c.947A>G (p.Glu316Gly) c.830A>G (p.Glu277Gly) c.812A>G (p.Glu271Gly) | |
| 3 | g.69956497A>T | CA353561784 | MITF | c.932A>T (p.Glu311Val) c.929A>T (p.Glu310Val) n.1154A>T c.905A>T (p.Glu302Val) c.998A>T (p.Glu333Val) c.677A>T (p.Glu226Val) c.977A>T (p.Glu326Val) c.980A>T (p.Glu327Val) c.659A>T (p.Glu220Val) c.950A>T (p.Glu317Val) c.824A>T (p.Glu275Val) c.*324A>T (n.*324A>T) c.491A>T (p.Glu164Val) c.842A>T (p.Glu281Val) c.995A>T (p.Glu332Val) c.947A>T (p.Glu316Val) c.830A>T (p.Glu277Val) c.812A>T (p.Glu271Val) | |
| 3 | g.69956498A= | CA1373447898 | MITF | c.933A= (p.Glu311=) c.930A= (p.Glu310=) n.1155A= c.906A= (p.Glu302=) c.999A= (p.Glu333=) c.678A= (p.Glu226=) c.978A= (p.Glu326=) c.981A= (p.Glu327=) c.660A= (p.Glu220=) c.951A= (p.Glu317=) c.825A= (p.Glu275=) c.*325A= (n.*325A=) c.492A= (p.Glu164=) c.843A= (p.Glu281=) c.996A= (p.Glu332=) c.948A= (p.Glu316=) c.831A= (p.Glu277=) c.813A= (p.Glu271=) | |
| 3 | g.69956498A>C | CA353561786 | MITF | c.933A>C (p.Glu311Asp) c.930A>C (p.Glu310Asp) n.1155A>C c.906A>C (p.Glu302Asp) c.999A>C (p.Glu333Asp) c.678A>C (p.Glu226Asp) c.978A>C (p.Glu326Asp) c.981A>C (p.Glu327Asp) c.660A>C (p.Glu220Asp) c.951A>C (p.Glu317Asp) c.825A>C (p.Glu275Asp) c.*325A>C (n.*325A>C) c.492A>C (p.Glu164Asp) c.843A>C (p.Glu281Asp) c.996A>C (p.Glu332Asp) c.948A>C (p.Glu316Asp) c.831A>C (p.Glu277Asp) c.813A>C (p.Glu271Asp) | gnomAD v4 |
| 3 | g.69956498A>G | CA2490526 | MITF | c.933A>G (p.Glu311=) c.930A>G (p.Glu310=) n.1155A>G c.906A>G (p.Glu302=) c.999A>G (p.Glu333=) c.678A>G (p.Glu226=) c.978A>G (p.Glu326=) c.981A>G (p.Glu327=) c.660A>G (p.Glu220=) c.951A>G (p.Glu317=) c.825A>G (p.Glu275=) c.*325A>G (n.*325A>G) c.492A>G (p.Glu164=) c.843A>G (p.Glu281=) c.996A>G (p.Glu332=) c.948A>G (p.Glu316=) c.831A>G (p.Glu277=) c.813A>G (p.Glu271=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69956498A>T | CA353561785 | MITF | c.933A>T (p.Glu311Asp) c.930A>T (p.Glu310Asp) n.1155A>T c.906A>T (p.Glu302Asp) c.999A>T (p.Glu333Asp) c.678A>T (p.Glu226Asp) c.978A>T (p.Glu326Asp) c.981A>T (p.Glu327Asp) c.660A>T (p.Glu220Asp) c.951A>T (p.Glu317Asp) c.825A>T (p.Glu275Asp) c.*325A>T (n.*325A>T) c.492A>T (p.Glu164Asp) c.843A>T (p.Glu281Asp) c.996A>T (p.Glu332Asp) c.948A>T (p.Glu316Asp) c.831A>T (p.Glu277Asp) c.813A>T (p.Glu271Asp) | |
| 3 | g.69956499C>A | CA353561787 | MITF | c.934C>A (p.Leu312Ile) c.931C>A (p.Leu311Ile) n.1156C>A c.907C>A (p.Leu303Ile) c.1000C>A (p.Leu334Ile) c.679C>A (p.Leu227Ile) c.979C>A (p.Leu327Ile) c.982C>A (p.Leu328Ile) c.661C>A (p.Leu221Ile) c.952C>A (p.Leu318Ile) c.826C>A (p.Leu276Ile) c.*326C>A (n.*326C>A) c.493C>A (p.Leu165Ile) c.844C>A (p.Leu282Ile) c.997C>A (p.Leu333Ile) c.949C>A (p.Leu317Ile) c.832C>A (p.Leu278Ile) c.814C>A (p.Leu272Ile) | |
| 3 | g.69956499C= | CA1373447901 | MITF | c.934C= (p.Leu312=) c.931C= (p.Leu311=) n.1156C= c.907C= (p.Leu303=) c.1000C= (p.Leu334=) c.679C= (p.Leu227=) c.979C= (p.Leu327=) c.982C= (p.Leu328=) c.661C= (p.Leu221=) c.952C= (p.Leu318=) c.826C= (p.Leu276=) c.*326C= (n.*326C=) c.493C= (p.Leu165=) c.844C= (p.Leu282=) c.997C= (p.Leu333=) c.949C= (p.Leu317=) c.832C= (p.Leu278=) c.814C= (p.Leu272=) | |
| 3 | g.69956499C>G | CA353561788 | MITF | c.934C>G (p.Leu312Val) c.931C>G (p.Leu311Val) n.1156C>G c.907C>G (p.Leu303Val) c.1000C>G (p.Leu334Val) c.679C>G (p.Leu227Val) c.979C>G (p.Leu327Val) c.982C>G (p.Leu328Val) c.661C>G (p.Leu221Val) c.952C>G (p.Leu318Val) c.826C>G (p.Leu276Val) c.*326C>G (n.*326C>G) c.493C>G (p.Leu165Val) c.844C>G (p.Leu282Val) c.997C>G (p.Leu333Val) c.949C>G (p.Leu317Val) c.832C>G (p.Leu278Val) c.814C>G (p.Leu272Val) | |
| 3 | g.69956499C>T | CA2490527 | MITF | c.934C>T (p.Leu312=) c.931C>T (p.Leu311=) n.1156C>T c.907C>T (p.Leu303=) c.1000C>T (p.Leu334=) c.679C>T (p.Leu227=) c.979C>T (p.Leu327=) c.982C>T (p.Leu328=) c.661C>T (p.Leu221=) c.952C>T (p.Leu318=) c.826C>T (p.Leu276=) c.*326C>T (n.*326C>T) c.493C>T (p.Leu165=) c.844C>T (p.Leu282=) c.997C>T (p.Leu333=) c.949C>T (p.Leu317=) c.832C>T (p.Leu278=) c.814C>T (p.Leu272=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69956499dup | CA915941508 | MITF | c.934dup (p.Leu312ProfsTer10) c.931dup (p.Leu311ProfsTer10) n.1156dup c.907dup (p.Leu303ProfsTer10) c.1000dup (p.Leu334ProfsTer10) c.679dup (p.Leu227ProfsTer10) c.979dup (p.Leu327ProfsTer10) c.982dup (p.Leu328ProfsTer10) c.661dup (p.Leu221ProfsTer10) c.952dup (p.Leu318ProfsTer10) c.826dup (p.Leu276ProfsTer10) c.*326dup (n.*326dup) c.493dup (p.Leu165ProfsTer10) c.844dup (p.Leu282ProfsTer10) c.997dup (p.Leu333ProfsTer10) c.949dup (p.Leu317ProfsTer10) c.832dup (p.Leu278ProfsTer10) c.814dup (p.Leu272ProfsTer10) | ClinVar dbSNP |
| 3 | g.69956500T>A | CA353561789 | MITF | c.935T>A (p.Leu312Gln) c.932T>A (p.Leu311Gln) n.1157T>A c.908T>A (p.Leu303Gln) c.1001T>A (p.Leu334Gln) c.680T>A (p.Leu227Gln) c.980T>A (p.Leu327Gln) c.983T>A (p.Leu328Gln) c.662T>A (p.Leu221Gln) c.953T>A (p.Leu318Gln) c.827T>A (p.Leu276Gln) c.*327T>A (n.*327T>A) c.494T>A (p.Leu165Gln) c.845T>A (p.Leu282Gln) c.998T>A (p.Leu333Gln) c.950T>A (p.Leu317Gln) c.833T>A (p.Leu278Gln) c.815T>A (p.Leu272Gln) | |
| 3 | g.69956500T>C | CA353561791 | MITF | c.935T>C (p.Leu312Pro) c.932T>C (p.Leu311Pro) n.1157T>C c.908T>C (p.Leu303Pro) c.1001T>C (p.Leu334Pro) c.680T>C (p.Leu227Pro) c.980T>C (p.Leu327Pro) c.983T>C (p.Leu328Pro) c.662T>C (p.Leu221Pro) c.953T>C (p.Leu318Pro) c.827T>C (p.Leu276Pro) c.*327T>C (n.*327T>C) c.494T>C (p.Leu165Pro) c.845T>C (p.Leu282Pro) c.998T>C (p.Leu333Pro) c.950T>C (p.Leu317Pro) c.833T>C (p.Leu278Pro) c.815T>C (p.Leu272Pro) | ClinVar |
| 3 | g.69956500T>G | CA353561790 | MITF | c.935T>G (p.Leu312Arg) c.932T>G (p.Leu311Arg) n.1157T>G c.908T>G (p.Leu303Arg) c.1001T>G (p.Leu334Arg) c.680T>G (p.Leu227Arg) c.980T>G (p.Leu327Arg) c.983T>G (p.Leu328Arg) c.662T>G (p.Leu221Arg) c.953T>G (p.Leu318Arg) c.827T>G (p.Leu276Arg) c.*327T>G (n.*327T>G) c.494T>G (p.Leu165Arg) c.845T>G (p.Leu282Arg) c.998T>G (p.Leu333Arg) c.950T>G (p.Leu317Arg) c.833T>G (p.Leu278Arg) c.815T>G (p.Leu272Arg) | |
| 3 | g.69956501A>C | CA434306368 | MITF | c.936A>C (p.Leu312=) c.933A>C (p.Leu311=) n.1158A>C c.909A>C (p.Leu303=) c.1002A>C (p.Leu334=) c.681A>C (p.Leu227=) c.981A>C (p.Leu327=) c.984A>C (p.Leu328=) c.663A>C (p.Leu221=) c.954A>C (p.Leu318=) c.828A>C (p.Leu276=) c.*328A>C (n.*328A>C) c.495A>C (p.Leu165=) c.846A>C (p.Leu282=) c.999A>C (p.Leu333=) c.951A>C (p.Leu317=) c.834A>C (p.Leu278=) c.816A>C (p.Leu272=) | |
| 3 | g.69956501A>G | CA434306370 | MITF | c.936A>G (p.Leu312=) c.933A>G (p.Leu311=) n.1158A>G c.909A>G (p.Leu303=) c.1002A>G (p.Leu334=) c.681A>G (p.Leu227=) c.981A>G (p.Leu327=) c.984A>G (p.Leu328=) c.663A>G (p.Leu221=) c.954A>G (p.Leu318=) c.828A>G (p.Leu276=) c.*328A>G (n.*328A>G) c.495A>G (p.Leu165=) c.846A>G (p.Leu282=) c.999A>G (p.Leu333=) c.951A>G (p.Leu317=) c.834A>G (p.Leu278=) c.816A>G (p.Leu272=) | ClinVar |
| 3 | g.69956501A>T | CA434306372 | MITF | c.936A>T (p.Leu312=) c.933A>T (p.Leu311=) n.1158A>T c.909A>T (p.Leu303=) c.1002A>T (p.Leu334=) c.681A>T (p.Leu227=) c.981A>T (p.Leu327=) c.984A>T (p.Leu328=) c.663A>T (p.Leu221=) c.954A>T (p.Leu318=) c.828A>T (p.Leu276=) c.*328A>T (n.*328A>T) c.495A>T (p.Leu165=) c.846A>T (p.Leu282=) c.999A>T (p.Leu333=) c.951A>T (p.Leu317=) c.834A>T (p.Leu278=) c.816A>T (p.Leu272=) | |
| 3 | g.69956502G>A | CA77002598 | MITF | c.937G>A (p.Gly313Ser) c.934G>A (p.Gly312Ser) n.1159G>A c.910G>A (p.Gly304Ser) c.1003G>A (p.Gly335Ser) c.682G>A (p.Gly228Ser) c.982G>A (p.Gly328Ser) c.985G>A (p.Gly329Ser) c.664G>A (p.Gly222Ser) c.955G>A (p.Gly319Ser) c.829G>A (p.Gly277Ser) c.*329G>A (n.*329G>A) c.496G>A (p.Gly166Ser) c.847G>A (p.Gly283Ser) c.1000G>A (p.Gly334Ser) c.952G>A (p.Gly318Ser) c.835G>A (p.Gly279Ser) c.817G>A (p.Gly273Ser) | ClinVar dbSNP |
| 3 | g.69956502G>C | CA353561792 | MITF | c.937G>C (p.Gly313Arg) c.934G>C (p.Gly312Arg) n.1159G>C c.910G>C (p.Gly304Arg) c.1003G>C (p.Gly335Arg) c.682G>C (p.Gly228Arg) c.982G>C (p.Gly328Arg) c.985G>C (p.Gly329Arg) c.664G>C (p.Gly222Arg) c.955G>C (p.Gly319Arg) c.829G>C (p.Gly277Arg) c.*329G>C (n.*329G>C) c.496G>C (p.Gly166Arg) c.847G>C (p.Gly283Arg) c.1000G>C (p.Gly334Arg) c.952G>C (p.Gly318Arg) c.835G>C (p.Gly279Arg) c.817G>C (p.Gly273Arg) | |
| 3 | g.69956502G= | CA1373447902 | MITF | c.937G= (p.Gly313=) c.934G= (p.Gly312=) n.1159G= c.910G= (p.Gly304=) c.1003G= (p.Gly335=) c.682G= (p.Gly228=) c.982G= (p.Gly328=) c.985G= (p.Gly329=) c.664G= (p.Gly222=) c.955G= (p.Gly319=) c.829G= (p.Gly277=) c.*329G= (n.*329G=) c.496G= (p.Gly166=) c.847G= (p.Gly283=) c.1000G= (p.Gly334=) c.952G= (p.Gly318=) c.835G= (p.Gly279=) c.817G= (p.Gly273=) | |
| 3 | g.69956502G>T | CA353561793 | MITF | c.937G>T (p.Gly313Cys) c.934G>T (p.Gly312Cys) n.1159G>T c.910G>T (p.Gly304Cys) c.1003G>T (p.Gly335Cys) c.682G>T (p.Gly228Cys) c.982G>T (p.Gly328Cys) c.985G>T (p.Gly329Cys) c.664G>T (p.Gly222Cys) c.955G>T (p.Gly319Cys) c.829G>T (p.Gly277Cys) c.*329G>T (n.*329G>T) c.496G>T (p.Gly166Cys) c.847G>T (p.Gly283Cys) c.1000G>T (p.Gly334Cys) c.952G>T (p.Gly318Cys) c.835G>T (p.Gly279Cys) c.817G>T (p.Gly273Cys) | |
| 3 | g.69956503G>A | CA353561794 | MITF | c.938G>A (p.Gly313Asp) c.935G>A (p.Gly312Asp) n.1160G>A c.911G>A (p.Gly304Asp) c.1004G>A (p.Gly335Asp) c.683G>A (p.Gly228Asp) c.983G>A (p.Gly328Asp) c.986G>A (p.Gly329Asp) c.665G>A (p.Gly222Asp) c.956G>A (p.Gly319Asp) c.830G>A (p.Gly277Asp) c.*330G>A (n.*330G>A) c.497G>A (p.Gly166Asp) c.848G>A (p.Gly283Asp) c.1001G>A (p.Gly334Asp) c.953G>A (p.Gly318Asp) c.836G>A (p.Gly279Asp) c.818G>A (p.Gly273Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69956503G>C | CA353561795 | MITF | c.938G>C (p.Gly313Ala) c.935G>C (p.Gly312Ala) n.1160G>C c.911G>C (p.Gly304Ala) c.1004G>C (p.Gly335Ala) c.683G>C (p.Gly228Ala) c.983G>C (p.Gly328Ala) c.986G>C (p.Gly329Ala) c.665G>C (p.Gly222Ala) c.956G>C (p.Gly319Ala) c.830G>C (p.Gly277Ala) c.*330G>C (n.*330G>C) c.497G>C (p.Gly166Ala) c.848G>C (p.Gly283Ala) c.1001G>C (p.Gly334Ala) c.953G>C (p.Gly318Ala) c.836G>C (p.Gly279Ala) c.818G>C (p.Gly273Ala) | |
| 3 | g.69956503G= | CA1373447903 | MITF | c.938G= (p.Gly313=) c.935G= (p.Gly312=) n.1160G= c.911G= (p.Gly304=) c.1004G= (p.Gly335=) c.683G= (p.Gly228=) c.983G= (p.Gly328=) c.986G= (p.Gly329=) c.665G= (p.Gly222=) c.956G= (p.Gly319=) c.830G= (p.Gly277=) c.*330G= (n.*330G=) c.497G= (p.Gly166=) c.848G= (p.Gly283=) c.1001G= (p.Gly334=) c.953G= (p.Gly318=) c.836G= (p.Gly279=) c.818G= (p.Gly273=) | |
| 3 | g.69956503G>T | CA353561796 | MITF | c.938G>T (p.Gly313Val) c.935G>T (p.Gly312Val) n.1160G>T c.911G>T (p.Gly304Val) c.1004G>T (p.Gly335Val) c.683G>T (p.Gly228Val) c.983G>T (p.Gly328Val) c.986G>T (p.Gly329Val) c.665G>T (p.Gly222Val) c.956G>T (p.Gly319Val) c.830G>T (p.Gly277Val) c.*330G>T (n.*330G>T) c.497G>T (p.Gly166Val) c.848G>T (p.Gly283Val) c.1001G>T (p.Gly334Val) c.953G>T (p.Gly318Val) c.836G>T (p.Gly279Val) c.818G>T (p.Gly273Val) | |
| 3 | g.69956504T>A | CA434306385 | MITF | c.939T>A (p.Gly313=) c.936T>A (p.Gly312=) n.1161T>A c.912T>A (p.Gly304=) c.1005T>A (p.Gly335=) c.684T>A (p.Gly228=) c.984T>A (p.Gly328=) c.987T>A (p.Gly329=) c.666T>A (p.Gly222=) c.957T>A (p.Gly319=) c.831T>A (p.Gly277=) c.*331T>A (n.*331T>A) c.498T>A (p.Gly166=) c.849T>A (p.Gly283=) c.1002T>A (p.Gly334=) c.954T>A (p.Gly318=) c.837T>A (p.Gly279=) c.819T>A (p.Gly273=) | |
| 3 | g.69956504T>C | CA434306387 | MITF | c.939T>C (p.Gly313=) c.936T>C (p.Gly312=) n.1161T>C c.912T>C (p.Gly304=) c.1005T>C (p.Gly335=) c.684T>C (p.Gly228=) c.984T>C (p.Gly328=) c.987T>C (p.Gly329=) c.666T>C (p.Gly222=) c.957T>C (p.Gly319=) c.831T>C (p.Gly277=) c.*331T>C (n.*331T>C) c.498T>C (p.Gly166=) c.849T>C (p.Gly283=) c.1002T>C (p.Gly334=) c.954T>C (p.Gly318=) c.837T>C (p.Gly279=) c.819T>C (p.Gly273=) | |
| 3 | g.69956504T>G | CA434306389 | MITF | c.939T>G (p.Gly313=) c.936T>G (p.Gly312=) n.1161T>G c.912T>G (p.Gly304=) c.1005T>G (p.Gly335=) c.684T>G (p.Gly228=) c.984T>G (p.Gly328=) c.987T>G (p.Gly329=) c.666T>G (p.Gly222=) c.957T>G (p.Gly319=) c.831T>G (p.Gly277=) c.*331T>G (n.*331T>G) c.498T>G (p.Gly166=) c.849T>G (p.Gly283=) c.1002T>G (p.Gly334=) c.954T>G (p.Gly318=) c.837T>G (p.Gly279=) c.819T>G (p.Gly273=) | |
| 3 | g.69956505A= | CA1373447904 | MITF | c.940A= (p.Thr314=) c.937A= (p.Thr313=) n.1162A= c.913A= (p.Thr305=) c.1006A= (p.Thr336=) c.685A= (p.Thr229=) c.985A= (p.Thr329=) c.988A= (p.Thr330=) c.667A= (p.Thr223=) c.958A= (p.Thr320=) c.832A= (p.Thr278=) c.*332A= (n.*332A=) c.499A= (p.Thr167=) c.850A= (p.Thr284=) c.1003A= (p.Thr335=) c.955A= (p.Thr319=) c.838A= (p.Thr280=) c.820A= (p.Thr274=) | |
| 3 | g.69956505A>C | CA353561797 | MITF | c.940A>C (p.Thr314Pro) c.937A>C (p.Thr313Pro) n.1162A>C c.913A>C (p.Thr305Pro) c.1006A>C (p.Thr336Pro) c.685A>C (p.Thr229Pro) c.985A>C (p.Thr329Pro) c.988A>C (p.Thr330Pro) c.667A>C (p.Thr223Pro) c.958A>C (p.Thr320Pro) c.832A>C (p.Thr278Pro) c.*332A>C (n.*332A>C) c.499A>C (p.Thr167Pro) c.850A>C (p.Thr284Pro) c.1003A>C (p.Thr335Pro) c.955A>C (p.Thr319Pro) c.838A>C (p.Thr280Pro) c.820A>C (p.Thr274Pro) | |
| 3 | g.69956505A>G | CA353561798 | MITF | c.940A>G (p.Thr314Ala) c.937A>G (p.Thr313Ala) n.1162A>G c.913A>G (p.Thr305Ala) c.1006A>G (p.Thr336Ala) c.685A>G (p.Thr229Ala) c.985A>G (p.Thr329Ala) c.988A>G (p.Thr330Ala) c.667A>G (p.Thr223Ala) c.958A>G (p.Thr320Ala) c.832A>G (p.Thr278Ala) c.*332A>G (n.*332A>G) c.499A>G (p.Thr167Ala) c.850A>G (p.Thr284Ala) c.1003A>G (p.Thr335Ala) c.955A>G (p.Thr319Ala) c.838A>G (p.Thr280Ala) c.820A>G (p.Thr274Ala) | |
| 3 | g.69956505A>T | CA2490528 | MITF | c.940A>T (p.Thr314Ser) c.937A>T (p.Thr313Ser) n.1162A>T c.913A>T (p.Thr305Ser) c.1006A>T (p.Thr336Ser) c.685A>T (p.Thr229Ser) c.985A>T (p.Thr329Ser) c.988A>T (p.Thr330Ser) c.667A>T (p.Thr223Ser) c.958A>T (p.Thr320Ser) c.832A>T (p.Thr278Ser) c.*332A>T (n.*332A>T) c.499A>T (p.Thr167Ser) c.850A>T (p.Thr284Ser) c.1003A>T (p.Thr335Ser) c.955A>T (p.Thr319Ser) c.838A>T (p.Thr280Ser) c.820A>T (p.Thr274Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69956506C>A | CA353561799 | MITF | c.941C>A (p.Thr314Asn) c.938C>A (p.Thr313Asn) n.1163C>A c.914C>A (p.Thr305Asn) c.1007C>A (p.Thr336Asn) c.686C>A (p.Thr229Asn) c.986C>A (p.Thr329Asn) c.989C>A (p.Thr330Asn) c.668C>A (p.Thr223Asn) c.959C>A (p.Thr320Asn) c.833C>A (p.Thr278Asn) c.*333C>A (n.*333C>A) c.500C>A (p.Thr167Asn) c.851C>A (p.Thr284Asn) c.1004C>A (p.Thr335Asn) c.956C>A (p.Thr319Asn) c.839C>A (p.Thr280Asn) c.821C>A (p.Thr274Asn) | |
| 3 | g.69956506C>G | CA353561800 | MITF | c.941C>G (p.Thr314Ser) c.938C>G (p.Thr313Ser) n.1163C>G c.914C>G (p.Thr305Ser) c.1007C>G (p.Thr336Ser) c.686C>G (p.Thr229Ser) c.986C>G (p.Thr329Ser) c.989C>G (p.Thr330Ser) c.668C>G (p.Thr223Ser) c.959C>G (p.Thr320Ser) c.833C>G (p.Thr278Ser) c.*333C>G (n.*333C>G) c.500C>G (p.Thr167Ser) c.851C>G (p.Thr284Ser) c.1004C>G (p.Thr335Ser) c.956C>G (p.Thr319Ser) c.839C>G (p.Thr280Ser) c.821C>G (p.Thr274Ser) | dbSNP |
| 3 | g.69956506C>T | CA353561801 | MITF | c.941C>T (p.Thr314Ile) c.938C>T (p.Thr313Ile) n.1163C>T c.914C>T (p.Thr305Ile) c.1007C>T (p.Thr336Ile) c.686C>T (p.Thr229Ile) c.986C>T (p.Thr329Ile) c.989C>T (p.Thr330Ile) c.668C>T (p.Thr223Ile) c.959C>T (p.Thr320Ile) c.833C>T (p.Thr278Ile) c.*333C>T (n.*333C>T) c.500C>T (p.Thr167Ile) c.851C>T (p.Thr284Ile) c.1004C>T (p.Thr335Ile) c.956C>T (p.Thr319Ile) c.839C>T (p.Thr280Ile) c.821C>T (p.Thr274Ile) | |
| 3 | g.69956507T>A | CA434306401 | MITF | c.942T>A (p.Thr314=) c.939T>A (p.Thr313=) n.1164T>A c.915T>A (p.Thr305=) c.1008T>A (p.Thr336=) c.687T>A (p.Thr229=) c.987T>A (p.Thr329=) c.990T>A (p.Thr330=) c.669T>A (p.Thr223=) c.960T>A (p.Thr320=) c.834T>A (p.Thr278=) c.*334T>A (n.*334T>A) c.501T>A (p.Thr167=) c.852T>A (p.Thr284=) c.1005T>A (p.Thr335=) c.957T>A (p.Thr319=) c.840T>A (p.Thr280=) c.822T>A (p.Thr274=) | |
| 3 | g.69956507T>C | CA434306405 | MITF | c.942T>C (p.Thr314=) c.939T>C (p.Thr313=) n.1164T>C c.915T>C (p.Thr305=) c.1008T>C (p.Thr336=) c.687T>C (p.Thr229=) c.987T>C (p.Thr329=) c.990T>C (p.Thr330=) c.669T>C (p.Thr223=) c.960T>C (p.Thr320=) c.834T>C (p.Thr278=) c.*334T>C (n.*334T>C) c.501T>C (p.Thr167=) c.852T>C (p.Thr284=) c.1005T>C (p.Thr335=) c.957T>C (p.Thr319=) c.840T>C (p.Thr280=) c.822T>C (p.Thr274=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69956507T>G | CA434306403 | MITF | c.942T>G (p.Thr314=) c.939T>G (p.Thr313=) n.1164T>G c.915T>G (p.Thr305=) c.1008T>G (p.Thr336=) c.687T>G (p.Thr229=) c.987T>G (p.Thr329=) c.990T>G (p.Thr330=) c.669T>G (p.Thr223=) c.960T>G (p.Thr320=) c.834T>G (p.Thr278=) c.*334T>G (n.*334T>G) c.501T>G (p.Thr167=) c.852T>G (p.Thr284=) c.1005T>G (p.Thr335=) c.957T>G (p.Thr319=) c.840T>G (p.Thr280=) c.822T>G (p.Thr274=) | |
| 3 | g.69956507T= | CA1373447905 | MITF | c.942T= (p.Thr314=) c.939T= (p.Thr313=) n.1164T= c.915T= (p.Thr305=) c.1008T= (p.Thr336=) c.687T= (p.Thr229=) c.987T= (p.Thr329=) c.990T= (p.Thr330=) c.669T= (p.Thr223=) c.960T= (p.Thr320=) c.834T= (p.Thr278=) c.*334T= (n.*334T=) c.501T= (p.Thr167=) c.852T= (p.Thr284=) c.1005T= (p.Thr335=) c.957T= (p.Thr319=) c.840T= (p.Thr280=) c.822T= (p.Thr274=) | |
| 3 | g.69956508T>A | CA353561803 | MITF | c.943T>A (p.Leu315Met) c.940T>A (p.Leu314Met) n.1165T>A c.916T>A (p.Leu306Met) c.1009T>A (p.Leu337Met) c.688T>A (p.Leu230Met) c.988T>A (p.Leu330Met) c.991T>A (p.Leu331Met) c.670T>A (p.Leu224Met) c.961T>A (p.Leu321Met) c.835T>A (p.Leu279Met) c.*335T>A (n.*335T>A) c.502T>A (p.Leu168Met) c.853T>A (p.Leu285Met) c.1006T>A (p.Leu336Met) c.958T>A (p.Leu320Met) c.841T>A (p.Leu281Met) c.823T>A (p.Leu275Met) | |
| 3 | g.69956508T>C | CA434306409 | MITF | c.943T>C (p.Leu315=) c.940T>C (p.Leu314=) n.1165T>C c.916T>C (p.Leu306=) c.1009T>C (p.Leu337=) c.688T>C (p.Leu230=) c.988T>C (p.Leu330=) c.991T>C (p.Leu331=) c.670T>C (p.Leu224=) c.961T>C (p.Leu321=) c.835T>C (p.Leu279=) c.*335T>C (n.*335T>C) c.502T>C (p.Leu168=) c.853T>C (p.Leu285=) c.1006T>C (p.Leu336=) c.958T>C (p.Leu320=) c.841T>C (p.Leu281=) c.823T>C (p.Leu275=) | dbSNP |
| 3 | g.69956508T>G | CA353561802 | MITF | c.943T>G (p.Leu315Val) c.940T>G (p.Leu314Val) n.1165T>G c.916T>G (p.Leu306Val) c.1009T>G (p.Leu337Val) c.688T>G (p.Leu230Val) c.988T>G (p.Leu330Val) c.991T>G (p.Leu331Val) c.670T>G (p.Leu224Val) c.961T>G (p.Leu321Val) c.835T>G (p.Leu279Val) c.*335T>G (n.*335T>G) c.502T>G (p.Leu168Val) c.853T>G (p.Leu285Val) c.1006T>G (p.Leu336Val) c.958T>G (p.Leu320Val) c.841T>G (p.Leu281Val) c.823T>G (p.Leu275Val) | |
| 3 | g.69956508T= | CA1373447906 | MITF | c.943T= (p.Leu315=) c.940T= (p.Leu314=) n.1165T= c.916T= (p.Leu306=) c.1009T= (p.Leu337=) c.688T= (p.Leu230=) c.988T= (p.Leu330=) c.991T= (p.Leu331=) c.670T= (p.Leu224=) c.961T= (p.Leu321=) c.835T= (p.Leu279=) c.*335T= (n.*335T=) c.502T= (p.Leu168=) c.853T= (p.Leu285=) c.1006T= (p.Leu336=) c.958T= (p.Leu320=) c.841T= (p.Leu281=) c.823T= (p.Leu275=) | |
| 3 | g.69956509T>A | CA353561804 | MITF | c.944T>A (p.Leu315Ter) c.941T>A (p.Leu314Ter) n.1166T>A c.917T>A (p.Leu306Ter) c.1010T>A (p.Leu337Ter) c.689T>A (p.Leu230Ter) c.989T>A (p.Leu330Ter) c.992T>A (p.Leu331Ter) c.671T>A (p.Leu224Ter) c.962T>A (p.Leu321Ter) c.836T>A (p.Leu279Ter) c.*336T>A (n.*336T>A) c.503T>A (p.Leu168Ter) c.854T>A (p.Leu285Ter) c.1007T>A (p.Leu336Ter) c.959T>A (p.Leu320Ter) c.842T>A (p.Leu281Ter) c.824T>A (p.Leu275Ter) | |
| 3 | g.69956509T>C | CA353561805 | MITF | c.944T>C (p.Leu315Ser) c.941T>C (p.Leu314Ser) n.1166T>C c.917T>C (p.Leu306Ser) c.1010T>C (p.Leu337Ser) c.689T>C (p.Leu230Ser) c.989T>C (p.Leu330Ser) c.992T>C (p.Leu331Ser) c.671T>C (p.Leu224Ser) c.962T>C (p.Leu321Ser) c.836T>C (p.Leu279Ser) c.*336T>C (n.*336T>C) c.503T>C (p.Leu168Ser) c.854T>C (p.Leu285Ser) c.1007T>C (p.Leu336Ser) c.959T>C (p.Leu320Ser) c.842T>C (p.Leu281Ser) c.824T>C (p.Leu275Ser) | |
| 3 | g.69956509T>G | CA353561806 | MITF | c.944T>G (p.Leu315Trp) c.941T>G (p.Leu314Trp) n.1166T>G c.917T>G (p.Leu306Trp) c.1010T>G (p.Leu337Trp) c.689T>G (p.Leu230Trp) c.989T>G (p.Leu330Trp) c.992T>G (p.Leu331Trp) c.671T>G (p.Leu224Trp) c.962T>G (p.Leu321Trp) c.836T>G (p.Leu279Trp) c.*336T>G (n.*336T>G) c.503T>G (p.Leu168Trp) c.854T>G (p.Leu285Trp) c.1007T>G (p.Leu336Trp) c.959T>G (p.Leu320Trp) c.842T>G (p.Leu281Trp) c.824T>G (p.Leu275Trp) | |
| 3 | g.69956510G>A | CA434306417 | MITF | c.945G>A (p.Leu315=) c.942G>A (p.Leu314=) n.1167G>A c.918G>A (p.Leu306=) c.1011G>A (p.Leu337=) c.690G>A (p.Leu230=) c.990G>A (p.Leu330=) c.993G>A (p.Leu331=) c.672G>A (p.Leu224=) c.963G>A (p.Leu321=) c.837G>A (p.Leu279=) c.*337G>A (n.*337G>A) c.504G>A (p.Leu168=) c.855G>A (p.Leu285=) c.1008G>A (p.Leu336=) c.960G>A (p.Leu320=) c.843G>A (p.Leu281=) c.825G>A (p.Leu275=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69956510G>C | CA353561807 | MITF | c.945G>C (p.Leu315Phe) c.942G>C (p.Leu314Phe) n.1167G>C c.918G>C (p.Leu306Phe) c.1011G>C (p.Leu337Phe) c.690G>C (p.Leu230Phe) c.990G>C (p.Leu330Phe) c.993G>C (p.Leu331Phe) c.672G>C (p.Leu224Phe) c.963G>C (p.Leu321Phe) c.837G>C (p.Leu279Phe) c.*337G>C (n.*337G>C) c.504G>C (p.Leu168Phe) c.855G>C (p.Leu285Phe) c.1008G>C (p.Leu336Phe) c.960G>C (p.Leu320Phe) c.843G>C (p.Leu281Phe) c.825G>C (p.Leu275Phe) | |
| 3 | g.69956510G= | CA1373447907 | MITF | c.945G= (p.Leu315=) c.942G= (p.Leu314=) n.1167G= c.918G= (p.Leu306=) c.1011G= (p.Leu337=) c.690G= (p.Leu230=) c.990G= (p.Leu330=) c.993G= (p.Leu331=) c.672G= (p.Leu224=) c.963G= (p.Leu321=) c.837G= (p.Leu279=) c.*337G= (n.*337G=) c.504G= (p.Leu168=) c.855G= (p.Leu285=) c.1008G= (p.Leu336=) c.960G= (p.Leu320=) c.843G= (p.Leu281=) c.825G= (p.Leu275=) | |
| 3 | g.69956510G>T | CA353561808 | MITF | c.945G>T (p.Leu315Phe) c.942G>T (p.Leu314Phe) n.1167G>T c.918G>T (p.Leu306Phe) c.1011G>T (p.Leu337Phe) c.690G>T (p.Leu230Phe) c.990G>T (p.Leu330Phe) c.993G>T (p.Leu331Phe) c.672G>T (p.Leu224Phe) c.963G>T (p.Leu321Phe) c.837G>T (p.Leu279Phe) c.*337G>T (n.*337G>T) c.504G>T (p.Leu168Phe) c.855G>T (p.Leu285Phe) c.1008G>T (p.Leu336Phe) c.960G>T (p.Leu320Phe) c.843G>T (p.Leu281Phe) c.825G>T (p.Leu275Phe) | |
| 3 | g.69956511A>C | CA353561809 | MITF | c.946A>C (p.Ile316Leu) c.943A>C (p.Ile315Leu) n.1168A>C c.919A>C (p.Ile307Leu) c.1012A>C (p.Ile338Leu) c.691A>C (p.Ile231Leu) c.991A>C (p.Ile331Leu) c.994A>C (p.Ile332Leu) c.673A>C (p.Ile225Leu) c.964A>C (p.Ile322Leu) c.838A>C (p.Ile280Leu) c.*338A>C (n.*338A>C) c.505A>C (p.Ile169Leu) c.856A>C (p.Ile286Leu) c.1009A>C (p.Ile337Leu) c.961A>C (p.Ile321Leu) c.844A>C (p.Ile282Leu) c.826A>C (p.Ile276Leu) | |
| 3 | g.69956511A>G | CA353561810 | MITF | c.946A>G (p.Ile316Val) c.943A>G (p.Ile315Val) n.1168A>G c.919A>G (p.Ile307Val) c.1012A>G (p.Ile338Val) c.691A>G (p.Ile231Val) c.991A>G (p.Ile331Val) c.994A>G (p.Ile332Val) c.673A>G (p.Ile225Val) c.964A>G (p.Ile322Val) c.838A>G (p.Ile280Val) c.*338A>G (n.*338A>G) c.505A>G (p.Ile169Val) c.856A>G (p.Ile286Val) c.1009A>G (p.Ile337Val) c.961A>G (p.Ile321Val) c.844A>G (p.Ile282Val) c.826A>G (p.Ile276Val) | |
| 3 | g.69956511A>T | CA353561811 | MITF | c.946A>T (p.Ile316Phe) c.943A>T (p.Ile315Phe) n.1168A>T c.919A>T (p.Ile307Phe) c.1012A>T (p.Ile338Phe) c.691A>T (p.Ile231Phe) c.991A>T (p.Ile331Phe) c.994A>T (p.Ile332Phe) c.673A>T (p.Ile225Phe) c.964A>T (p.Ile322Phe) c.838A>T (p.Ile280Phe) c.*338A>T (n.*338A>T) c.505A>T (p.Ile169Phe) c.856A>T (p.Ile286Phe) c.1009A>T (p.Ile337Phe) c.961A>T (p.Ile321Phe) c.844A>T (p.Ile282Phe) c.826A>T (p.Ile276Phe) | |
| 3 | g.69956512T>A | CA353561812 | MITF | c.947T>A (p.Ile316Asn) c.944T>A (p.Ile315Asn) n.1169T>A c.920T>A (p.Ile307Asn) c.1013T>A (p.Ile338Asn) c.692T>A (p.Ile231Asn) c.992T>A (p.Ile331Asn) c.995T>A (p.Ile332Asn) c.674T>A (p.Ile225Asn) c.965T>A (p.Ile322Asn) c.839T>A (p.Ile280Asn) c.*339T>A (n.*339T>A) c.506T>A (p.Ile169Asn) c.857T>A (p.Ile286Asn) c.1010T>A (p.Ile337Asn) c.962T>A (p.Ile321Asn) c.845T>A (p.Ile282Asn) c.827T>A (p.Ile276Asn) | |
| 3 | g.69956512T>C | CA353561813 | MITF | c.947T>C (p.Ile316Thr) c.944T>C (p.Ile315Thr) n.1169T>C c.920T>C (p.Ile307Thr) c.1013T>C (p.Ile338Thr) c.692T>C (p.Ile231Thr) c.992T>C (p.Ile331Thr) c.995T>C (p.Ile332Thr) c.674T>C (p.Ile225Thr) c.965T>C (p.Ile322Thr) c.839T>C (p.Ile280Thr) c.*339T>C (n.*339T>C) c.506T>C (p.Ile169Thr) c.857T>C (p.Ile286Thr) c.1010T>C (p.Ile337Thr) c.962T>C (p.Ile321Thr) c.845T>C (p.Ile282Thr) c.827T>C (p.Ile276Thr) | |
| 3 | g.69956512T>G | CA353561814 | MITF | c.947T>G (p.Ile316Ser) c.944T>G (p.Ile315Ser) n.1169T>G c.920T>G (p.Ile307Ser) c.1013T>G (p.Ile338Ser) c.692T>G (p.Ile231Ser) c.992T>G (p.Ile331Ser) c.995T>G (p.Ile332Ser) c.674T>G (p.Ile225Ser) c.965T>G (p.Ile322Ser) c.839T>G (p.Ile280Ser) c.*339T>G (n.*339T>G) c.506T>G (p.Ile169Ser) c.857T>G (p.Ile286Ser) c.1010T>G (p.Ile337Ser) c.962T>G (p.Ile321Ser) c.845T>G (p.Ile282Ser) c.827T>G (p.Ile276Ser) | |
| 3 | g.69956513del | CA2586972649 | MITF | c.948del (p.Lys318SerfsTer15) c.945del (p.Lys317SerfsTer15) n.1170del c.921del (p.Lys309SerfsTer15) c.1014del (p.Lys340SerfsTer15) c.693del (p.Lys233SerfsTer15) c.993del (p.Lys333SerfsTer15) c.996del (p.Lys334SerfsTer15) c.675del (p.Lys227SerfsTer15) c.966del (p.Lys324SerfsTer15) c.840del (p.Lys282SerfsTer15) c.*340del (n.*340del) c.507del (p.Lys171SerfsTer15) c.858del (p.Lys288SerfsTer15) c.1011del (p.Lys339SerfsTer15) c.963del (p.Lys323SerfsTer15) c.846del (p.Lys284SerfsTer15) c.828del (p.Lys278SerfsTer15) | |
| 3 | g.69956513T>A | CA434306432 | MITF | c.948T>A (p.Ile316=) c.945T>A (p.Ile315=) n.1170T>A c.921T>A (p.Ile307=) c.1014T>A (p.Ile338=) c.693T>A (p.Ile231=) c.993T>A (p.Ile331=) c.996T>A (p.Ile332=) c.675T>A (p.Ile225=) c.966T>A (p.Ile322=) c.840T>A (p.Ile280=) c.*340T>A (n.*340T>A) c.507T>A (p.Ile169=) c.858T>A (p.Ile286=) c.1011T>A (p.Ile337=) c.963T>A (p.Ile321=) c.846T>A (p.Ile282=) c.828T>A (p.Ile276=) | |
| 3 | g.69956513T>C | CA434306434 | MITF | c.948T>C (p.Ile316=) c.945T>C (p.Ile315=) n.1170T>C c.921T>C (p.Ile307=) c.1014T>C (p.Ile338=) c.693T>C (p.Ile231=) c.993T>C (p.Ile331=) c.996T>C (p.Ile332=) c.675T>C (p.Ile225=) c.966T>C (p.Ile322=) c.840T>C (p.Ile280=) c.*340T>C (n.*340T>C) c.507T>C (p.Ile169=) c.858T>C (p.Ile286=) c.1011T>C (p.Ile337=) c.963T>C (p.Ile321=) c.846T>C (p.Ile282=) c.828T>C (p.Ile276=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69956513T>G | CA353561815 | MITF | c.948T>G (p.Ile316Met) c.945T>G (p.Ile315Met) n.1170T>G c.921T>G (p.Ile307Met) c.1014T>G (p.Ile338Met) c.693T>G (p.Ile231Met) c.993T>G (p.Ile331Met) c.996T>G (p.Ile332Met) c.675T>G (p.Ile225Met) c.966T>G (p.Ile322Met) c.840T>G (p.Ile280Met) c.*340T>G (n.*340T>G) c.507T>G (p.Ile169Met) c.858T>G (p.Ile286Met) c.1011T>G (p.Ile337Met) c.963T>G (p.Ile321Met) c.846T>G (p.Ile282Met) c.828T>G (p.Ile276Met) | |
| 3 | g.69956513T= | CA1373447908 | MITF | c.948T= (p.Ile316=) c.945T= (p.Ile315=) n.1170T= c.921T= (p.Ile307=) c.1014T= (p.Ile338=) c.693T= (p.Ile231=) c.993T= (p.Ile331=) c.996T= (p.Ile332=) c.675T= (p.Ile225=) c.966T= (p.Ile322=) c.840T= (p.Ile280=) c.*340T= (n.*340T=) c.507T= (p.Ile169=) c.858T= (p.Ile286=) c.1011T= (p.Ile337=) c.963T= (p.Ile321=) c.846T= (p.Ile282=) c.828T= (p.Ile276=) | |
| 3 | g.69956514C>A | CA353561818 | MITF | c.949C>A (p.Pro317Thr) c.946C>A (p.Pro316Thr) n.1171C>A c.922C>A (p.Pro308Thr) c.1015C>A (p.Pro339Thr) c.694C>A (p.Pro232Thr) c.994C>A (p.Pro332Thr) c.997C>A (p.Pro333Thr) c.676C>A (p.Pro226Thr) c.967C>A (p.Pro323Thr) c.841C>A (p.Pro281Thr) c.*341C>A (n.*341C>A) c.508C>A (p.Pro170Thr) c.859C>A (p.Pro287Thr) c.1012C>A (p.Pro338Thr) c.964C>A (p.Pro322Thr) c.847C>A (p.Pro283Thr) c.829C>A (p.Pro277Thr) | |
| 3 | g.69956514C>G | CA353561817 | MITF | c.949C>G (p.Pro317Ala) c.946C>G (p.Pro316Ala) n.1171C>G c.922C>G (p.Pro308Ala) c.1015C>G (p.Pro339Ala) c.694C>G (p.Pro232Ala) c.994C>G (p.Pro332Ala) c.997C>G (p.Pro333Ala) c.676C>G (p.Pro226Ala) c.967C>G (p.Pro323Ala) c.841C>G (p.Pro281Ala) c.*341C>G (n.*341C>G) c.508C>G (p.Pro170Ala) c.859C>G (p.Pro287Ala) c.1012C>G (p.Pro338Ala) c.964C>G (p.Pro322Ala) c.847C>G (p.Pro283Ala) c.829C>G (p.Pro277Ala) | |
| 3 | g.69956514C>T | CA353561816 | MITF | c.949C>T (p.Pro317Ser) c.946C>T (p.Pro316Ser) n.1171C>T c.922C>T (p.Pro308Ser) c.1015C>T (p.Pro339Ser) c.694C>T (p.Pro232Ser) c.994C>T (p.Pro332Ser) c.997C>T (p.Pro333Ser) c.676C>T (p.Pro226Ser) c.967C>T (p.Pro323Ser) c.841C>T (p.Pro281Ser) c.*341C>T (n.*341C>T) c.508C>T (p.Pro170Ser) c.859C>T (p.Pro287Ser) c.1012C>T (p.Pro338Ser) c.964C>T (p.Pro322Ser) c.847C>T (p.Pro283Ser) c.829C>T (p.Pro277Ser) | |
| 3 | g.69956515C>A | CA353561820 | MITF | c.950C>A (p.Pro317His) c.947C>A (p.Pro316His) n.1172C>A c.923C>A (p.Pro308His) c.1016C>A (p.Pro339His) c.695C>A (p.Pro232His) c.995C>A (p.Pro332His) c.998C>A (p.Pro333His) c.677C>A (p.Pro226His) c.968C>A (p.Pro323His) c.842C>A (p.Pro281His) c.*342C>A (n.*342C>A) c.509C>A (p.Pro170His) c.860C>A (p.Pro287His) c.1013C>A (p.Pro338His) c.965C>A (p.Pro322His) c.848C>A (p.Pro283His) c.830C>A (p.Pro277His) | |
| 3 | g.69956515C= | CA1373447909 | MITF | c.950C= (p.Pro317=) c.947C= (p.Pro316=) n.1172C= c.923C= (p.Pro308=) c.1016C= (p.Pro339=) c.695C= (p.Pro232=) c.995C= (p.Pro332=) c.998C= (p.Pro333=) c.677C= (p.Pro226=) c.968C= (p.Pro323=) c.842C= (p.Pro281=) c.*342C= (n.*342C=) c.509C= (p.Pro170=) c.860C= (p.Pro287=) c.1013C= (p.Pro338=) c.965C= (p.Pro322=) c.848C= (p.Pro283=) c.830C= (p.Pro277=) | |
| 3 | g.69956515C>G | CA2490529 | MITF | c.950C>G (p.Pro317Arg) c.947C>G (p.Pro316Arg) n.1172C>G c.923C>G (p.Pro308Arg) c.1016C>G (p.Pro339Arg) c.695C>G (p.Pro232Arg) c.995C>G (p.Pro332Arg) c.998C>G (p.Pro333Arg) c.677C>G (p.Pro226Arg) c.968C>G (p.Pro323Arg) c.842C>G (p.Pro281Arg) c.*342C>G (n.*342C>G) c.509C>G (p.Pro170Arg) c.860C>G (p.Pro287Arg) c.1013C>G (p.Pro338Arg) c.965C>G (p.Pro322Arg) c.848C>G (p.Pro283Arg) c.830C>G (p.Pro277Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69956515C>T | CA353561819 | MITF | c.950C>T (p.Pro317Leu) c.947C>T (p.Pro316Leu) n.1172C>T c.923C>T (p.Pro308Leu) c.1016C>T (p.Pro339Leu) c.695C>T (p.Pro232Leu) c.995C>T (p.Pro332Leu) c.998C>T (p.Pro333Leu) c.677C>T (p.Pro226Leu) c.968C>T (p.Pro323Leu) c.842C>T (p.Pro281Leu) c.*342C>T (n.*342C>T) c.509C>T (p.Pro170Leu) c.860C>T (p.Pro287Leu) c.1013C>T (p.Pro338Leu) c.965C>T (p.Pro322Leu) c.848C>T (p.Pro283Leu) c.830C>T (p.Pro277Leu) | |
| 3 | g.69956516C>A | CA434306448 | MITF | c.951C>A (p.Pro317=) c.948C>A (p.Pro316=) n.1173C>A c.924C>A (p.Pro308=) c.1017C>A (p.Pro339=) c.696C>A (p.Pro232=) c.996C>A (p.Pro332=) c.999C>A (p.Pro333=) c.678C>A (p.Pro226=) c.969C>A (p.Pro323=) c.843C>A (p.Pro281=) c.*343C>A (n.*343C>A) c.510C>A (p.Pro170=) c.861C>A (p.Pro287=) c.1014C>A (p.Pro338=) c.966C>A (p.Pro322=) c.849C>A (p.Pro283=) c.831C>A (p.Pro277=) | gnomAD v4 |
| 3 | g.69956516C>G | CA434306450 | MITF | c.951C>G (p.Pro317=) c.948C>G (p.Pro316=) n.1173C>G c.924C>G (p.Pro308=) c.1017C>G (p.Pro339=) c.696C>G (p.Pro232=) c.996C>G (p.Pro332=) c.999C>G (p.Pro333=) c.678C>G (p.Pro226=) c.969C>G (p.Pro323=) c.843C>G (p.Pro281=) c.*343C>G (n.*343C>G) c.510C>G (p.Pro170=) c.861C>G (p.Pro287=) c.1014C>G (p.Pro338=) c.966C>G (p.Pro322=) c.849C>G (p.Pro283=) c.831C>G (p.Pro277=) | COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69956516C>T | CA434306452 | MITF | c.951C>T (p.Pro317=) c.948C>T (p.Pro316=) n.1173C>T c.924C>T (p.Pro308=) c.1017C>T (p.Pro339=) c.696C>T (p.Pro232=) c.996C>T (p.Pro332=) c.999C>T (p.Pro333=) c.678C>T (p.Pro226=) c.969C>T (p.Pro323=) c.843C>T (p.Pro281=) c.*343C>T (n.*343C>T) c.510C>T (p.Pro170=) c.861C>T (p.Pro287=) c.1014C>T (p.Pro338=) c.966C>T (p.Pro322=) c.849C>T (p.Pro283=) c.831C>T (p.Pro277=) | |
| 3 | g.69956517A>C | CA353561821 | MITF | c.952A>C (p.Lys318Gln) c.949A>C (p.Lys317Gln) n.1174A>C c.925A>C (p.Lys309Gln) c.1018A>C (p.Lys340Gln) c.697A>C (p.Lys233Gln) c.997A>C (p.Lys333Gln) c.1000A>C (p.Lys334Gln) c.679A>C (p.Lys227Gln) c.970A>C (p.Lys324Gln) c.844A>C (p.Lys282Gln) c.*344A>C (n.*344A>C) c.511A>C (p.Lys171Gln) c.862A>C (p.Lys288Gln) c.1015A>C (p.Lys339Gln) c.967A>C (p.Lys323Gln) c.850A>C (p.Lys284Gln) c.832A>C (p.Lys278Gln) | |
| 3 | g.69956517A>G | CA353561822 | MITF | c.952A>G (p.Lys318Glu) c.949A>G (p.Lys317Glu) n.1174A>G c.925A>G (p.Lys309Glu) c.1018A>G (p.Lys340Glu) c.697A>G (p.Lys233Glu) c.997A>G (p.Lys333Glu) c.1000A>G (p.Lys334Glu) c.679A>G (p.Lys227Glu) c.970A>G (p.Lys324Glu) c.844A>G (p.Lys282Glu) c.*344A>G (n.*344A>G) c.511A>G (p.Lys171Glu) c.862A>G (p.Lys288Glu) c.1015A>G (p.Lys339Glu) c.967A>G (p.Lys323Glu) c.850A>G (p.Lys284Glu) c.832A>G (p.Lys278Glu) | |
| 3 | g.69956517A>T | CA353561823 | MITF | c.952A>T (p.Lys318Ter) c.949A>T (p.Lys317Ter) n.1174A>T c.925A>T (p.Lys309Ter) c.1018A>T (p.Lys340Ter) c.697A>T (p.Lys233Ter) c.997A>T (p.Lys333Ter) c.1000A>T (p.Lys334Ter) c.679A>T (p.Lys227Ter) c.970A>T (p.Lys324Ter) c.844A>T (p.Lys282Ter) c.*344A>T (n.*344A>T) c.511A>T (p.Lys171Ter) c.862A>T (p.Lys288Ter) c.1015A>T (p.Lys339Ter) c.967A>T (p.Lys323Ter) c.850A>T (p.Lys284Ter) c.832A>T (p.Lys278Ter) | |
| 3 | g.69956518A>C | CA353561826 | MITF | c.953A>C (p.Lys318Thr) c.950A>C (p.Lys317Thr) n.1175A>C c.926A>C (p.Lys309Thr) c.1019A>C (p.Lys340Thr) c.698A>C (p.Lys233Thr) c.998A>C (p.Lys333Thr) c.1001A>C (p.Lys334Thr) c.680A>C (p.Lys227Thr) c.971A>C (p.Lys324Thr) c.845A>C (p.Lys282Thr) c.*345A>C (n.*345A>C) c.512A>C (p.Lys171Thr) c.863A>C (p.Lys288Thr) c.1016A>C (p.Lys339Thr) c.968A>C (p.Lys323Thr) c.851A>C (p.Lys284Thr) c.833A>C (p.Lys278Thr) | |
| 3 | g.69956518A>G | CA353561825 | MITF | c.953A>G (p.Lys318Arg) c.950A>G (p.Lys317Arg) n.1175A>G c.926A>G (p.Lys309Arg) c.1019A>G (p.Lys340Arg) c.698A>G (p.Lys233Arg) c.998A>G (p.Lys333Arg) c.1001A>G (p.Lys334Arg) c.680A>G (p.Lys227Arg) c.971A>G (p.Lys324Arg) c.845A>G (p.Lys282Arg) c.*345A>G (n.*345A>G) c.512A>G (p.Lys171Arg) c.863A>G (p.Lys288Arg) c.1016A>G (p.Lys339Arg) c.968A>G (p.Lys323Arg) c.851A>G (p.Lys284Arg) c.833A>G (p.Lys278Arg) | |
| 3 | g.69956518A>T | CA353561824 | MITF | c.953A>T (p.Lys318Met) c.950A>T (p.Lys317Met) n.1175A>T c.926A>T (p.Lys309Met) c.1019A>T (p.Lys340Met) c.698A>T (p.Lys233Met) c.998A>T (p.Lys333Met) c.1001A>T (p.Lys334Met) c.680A>T (p.Lys227Met) c.971A>T (p.Lys324Met) c.845A>T (p.Lys282Met) c.*345A>T (n.*345A>T) c.512A>T (p.Lys171Met) c.863A>T (p.Lys288Met) c.1016A>T (p.Lys339Met) c.968A>T (p.Lys323Met) c.851A>T (p.Lys284Met) c.833A>T (p.Lys278Met) | |
| 3 | g.69956519G>A | CA2490530 | MITF | c.954G>A (p.Lys318=) c.951G>A (p.Lys317=) n.1176G>A c.927G>A (p.Lys309=) c.1020G>A (p.Lys340=) c.699G>A (p.Lys233=) c.999G>A (p.Lys333=) c.1002G>A (p.Lys334=) c.681G>A (p.Lys227=) c.972G>A (p.Lys324=) c.846G>A (p.Lys282=) c.*346G>A (n.*346G>A) c.513G>A (p.Lys171=) c.864G>A (p.Lys288=) c.1017G>A (p.Lys339=) c.969G>A (p.Lys323=) c.852G>A (p.Lys284=) c.834G>A (p.Lys278=) | dbSNP ExAC gnomAD v2 |
| 3 | g.69956519G>C | CA353561827 | MITF | c.954G>C (p.Lys318Asn) c.951G>C (p.Lys317Asn) n.1176G>C c.927G>C (p.Lys309Asn) c.1020G>C (p.Lys340Asn) c.699G>C (p.Lys233Asn) c.999G>C (p.Lys333Asn) c.1002G>C (p.Lys334Asn) c.681G>C (p.Lys227Asn) c.972G>C (p.Lys324Asn) c.846G>C (p.Lys282Asn) c.*346G>C (n.*346G>C) c.513G>C (p.Lys171Asn) c.864G>C (p.Lys288Asn) c.1017G>C (p.Lys339Asn) c.969G>C (p.Lys323Asn) c.852G>C (p.Lys284Asn) c.834G>C (p.Lys278Asn) | |
| 3 | g.69956519G= | CA1373447910 | MITF | c.954G= (p.Lys318=) c.951G= (p.Lys317=) n.1176G= c.927G= (p.Lys309=) c.1020G= (p.Lys340=) c.699G= (p.Lys233=) c.999G= (p.Lys333=) c.1002G= (p.Lys334=) c.681G= (p.Lys227=) c.972G= (p.Lys324=) c.846G= (p.Lys282=) c.*346G= (n.*346G=) c.513G= (p.Lys171=) c.864G= (p.Lys288=) c.1017G= (p.Lys339=) c.969G= (p.Lys323=) c.852G= (p.Lys284=) c.834G= (p.Lys278=) | |
| 3 | g.69956519G>T | CA353561828 | MITF | c.954G>T (p.Lys318Asn) c.951G>T (p.Lys317Asn) n.1176G>T c.927G>T (p.Lys309Asn) c.1020G>T (p.Lys340Asn) c.699G>T (p.Lys233Asn) c.999G>T (p.Lys333Asn) c.1002G>T (p.Lys334Asn) c.681G>T (p.Lys227Asn) c.972G>T (p.Lys324Asn) c.846G>T (p.Lys282Asn) c.*346G>T (n.*346G>T) c.513G>T (p.Lys171Asn) c.864G>T (p.Lys288Asn) c.1017G>T (p.Lys339Asn) c.969G>T (p.Lys323Asn) c.852G>T (p.Lys284Asn) c.834G>T (p.Lys278Asn) | |
| 3 | g.69956519_69956520del | CA2586972650 | MITF | c.954_955del (p.Lys318AsnfsTer3) c.951_952del (p.Lys317AsnfsTer3) n.1176_1177del c.927_928del (p.Lys309AsnfsTer3) c.1020_1021del (p.Lys340AsnfsTer3) c.699_700del (p.Lys233AsnfsTer3) c.999_1000del (p.Lys333AsnfsTer3) c.1002_1003del (p.Lys334AsnfsTer3) c.681_682del (p.Lys227AsnfsTer3) c.972_973del (p.Lys324AsnfsTer3) c.846_847del (p.Lys282AsnfsTer3) c.*346_*347del (n.*346_*347del) c.513_514del (p.Lys171AsnfsTer3) c.864_865del (p.Lys288AsnfsTer3) c.1017_1018del (p.Lys339AsnfsTer3) c.969_970del (p.Lys323AsnfsTer3) c.852_853del (p.Lys284AsnfsTer3) c.834_835del (p.Lys278AsnfsTer3) | |
| 3 | g.69956520T>A | CA353561829 | MITF | c.955T>A (p.Ser319Thr) c.952T>A (p.Ser318Thr) n.1177T>A c.928T>A (p.Ser310Thr) c.1021T>A (p.Ser341Thr) c.700T>A (p.Ser234Thr) c.1000T>A (p.Ser334Thr) c.1003T>A (p.Ser335Thr) c.682T>A (p.Ser228Thr) c.973T>A (p.Ser325Thr) c.847T>A (p.Ser283Thr) c.*347T>A (n.*347T>A) c.514T>A (p.Ser172Thr) c.865T>A (p.Ser289Thr) c.1018T>A (p.Ser340Thr) c.970T>A (p.Ser324Thr) c.853T>A (p.Ser285Thr) c.835T>A (p.Ser279Thr) | |
| 3 | g.69956520T>C | CA353561830 | MITF | c.955T>C (p.Ser319Pro) c.952T>C (p.Ser318Pro) n.1177T>C c.928T>C (p.Ser310Pro) c.1021T>C (p.Ser341Pro) c.700T>C (p.Ser234Pro) c.1000T>C (p.Ser334Pro) c.1003T>C (p.Ser335Pro) c.682T>C (p.Ser228Pro) c.973T>C (p.Ser325Pro) c.847T>C (p.Ser283Pro) c.*347T>C (n.*347T>C) c.514T>C (p.Ser172Pro) c.865T>C (p.Ser289Pro) c.1018T>C (p.Ser340Pro) c.970T>C (p.Ser324Pro) c.853T>C (p.Ser285Pro) c.835T>C (p.Ser279Pro) | |
| 3 | g.69956520T>G | CA353561831 | MITF | c.955T>G (p.Ser319Ala) c.952T>G (p.Ser318Ala) n.1177T>G c.928T>G (p.Ser310Ala) c.1021T>G (p.Ser341Ala) c.700T>G (p.Ser234Ala) c.1000T>G (p.Ser334Ala) c.1003T>G (p.Ser335Ala) c.682T>G (p.Ser228Ala) c.973T>G (p.Ser325Ala) c.847T>G (p.Ser283Ala) c.*347T>G (n.*347T>G) c.514T>G (p.Ser172Ala) c.865T>G (p.Ser289Ala) c.1018T>G (p.Ser340Ala) c.970T>G (p.Ser324Ala) c.853T>G (p.Ser285Ala) c.835T>G (p.Ser279Ala) | |
| 3 | g.69956521C>A | CA353561832 | MITF | c.956C>A (p.Ser319Ter) c.953C>A (p.Ser318Ter) n.1178C>A c.929C>A (p.Ser310Ter) c.1022C>A (p.Ser341Ter) c.701C>A (p.Ser234Ter) c.1001C>A (p.Ser334Ter) c.1004C>A (p.Ser335Ter) c.683C>A (p.Ser228Ter) c.974C>A (p.Ser325Ter) c.848C>A (p.Ser283Ter) c.*348C>A (n.*348C>A) c.515C>A (p.Ser172Ter) c.866C>A (p.Ser289Ter) c.1019C>A (p.Ser340Ter) c.971C>A (p.Ser324Ter) c.854C>A (p.Ser285Ter) c.836C>A (p.Ser279Ter) | gnomAD v4 |
| 3 | g.69956521C= | CA1373447914 | MITF | c.956C= (p.Ser319=) c.953C= (p.Ser318=) n.1178C= c.929C= (p.Ser310=) c.1022C= (p.Ser341=) c.701C= (p.Ser234=) c.1001C= (p.Ser334=) c.1004C= (p.Ser335=) c.683C= (p.Ser228=) c.974C= (p.Ser325=) c.848C= (p.Ser283=) c.*348C= (n.*348C=) c.515C= (p.Ser172=) c.866C= (p.Ser289=) c.1019C= (p.Ser340=) c.971C= (p.Ser324=) c.854C= (p.Ser285=) c.836C= (p.Ser279=) | |
| 3 | g.69956521C>G | CA353561834 | MITF | c.956C>G (p.Ser319Ter) c.953C>G (p.Ser318Ter) n.1178C>G c.929C>G (p.Ser310Ter) c.1022C>G (p.Ser341Ter) c.701C>G (p.Ser234Ter) c.1001C>G (p.Ser334Ter) c.1004C>G (p.Ser335Ter) c.683C>G (p.Ser228Ter) c.974C>G (p.Ser325Ter) c.848C>G (p.Ser283Ter) c.*348C>G (n.*348C>G) c.515C>G (p.Ser172Ter) c.866C>G (p.Ser289Ter) c.1019C>G (p.Ser340Ter) c.971C>G (p.Ser324Ter) c.854C>G (p.Ser285Ter) c.836C>G (p.Ser279Ter) | ClinVar dbSNP |
| 3 | g.69956521C>T | CA353561833 | MITF | c.956C>T (p.Ser319Leu) c.953C>T (p.Ser318Leu) n.1178C>T c.929C>T (p.Ser310Leu) c.1022C>T (p.Ser341Leu) c.701C>T (p.Ser234Leu) c.1001C>T (p.Ser334Leu) c.1004C>T (p.Ser335Leu) c.683C>T (p.Ser228Leu) c.974C>T (p.Ser325Leu) c.848C>T (p.Ser283Leu) c.*348C>T (n.*348C>T) c.515C>T (p.Ser172Leu) c.866C>T (p.Ser289Leu) c.1019C>T (p.Ser340Leu) c.971C>T (p.Ser324Leu) c.854C>T (p.Ser285Leu) c.836C>T (p.Ser279Leu) | |
| 3 | g.69956522A>C | CA434306477 | MITF | c.957A>C (p.Ser319=) c.954A>C (p.Ser318=) n.1179A>C c.930A>C (p.Ser310=) c.1023A>C (p.Ser341=) c.702A>C (p.Ser234=) c.1002A>C (p.Ser334=) c.1005A>C (p.Ser335=) c.684A>C (p.Ser228=) c.975A>C (p.Ser325=) c.849A>C (p.Ser283=) c.*349A>C (n.*349A>C) c.516A>C (p.Ser172=) c.867A>C (p.Ser289=) c.1020A>C (p.Ser340=) c.972A>C (p.Ser324=) c.855A>C (p.Ser285=) c.837A>C (p.Ser279=) | |
| 3 | g.69956522A>G | CA434306478 | MITF | c.957A>G (p.Ser319=) c.954A>G (p.Ser318=) n.1179A>G c.930A>G (p.Ser310=) c.1023A>G (p.Ser341=) c.702A>G (p.Ser234=) c.1002A>G (p.Ser334=) c.1005A>G (p.Ser335=) c.684A>G (p.Ser228=) c.975A>G (p.Ser325=) c.849A>G (p.Ser283=) c.*349A>G (n.*349A>G) c.516A>G (p.Ser172=) c.867A>G (p.Ser289=) c.1020A>G (p.Ser340=) c.972A>G (p.Ser324=) c.855A>G (p.Ser285=) c.837A>G (p.Ser279=) | |
| 3 | g.69956522A>T | CA434306481 | MITF | c.957A>T (p.Ser319=) c.954A>T (p.Ser318=) n.1179A>T c.930A>T (p.Ser310=) c.1023A>T (p.Ser341=) c.702A>T (p.Ser234=) c.1002A>T (p.Ser334=) c.1005A>T (p.Ser335=) c.684A>T (p.Ser228=) c.975A>T (p.Ser325=) c.849A>T (p.Ser283=) c.*349A>T (n.*349A>T) c.516A>T (p.Ser172=) c.867A>T (p.Ser289=) c.1020A>T (p.Ser340=) c.972A>T (p.Ser324=) c.855A>T (p.Ser285=) c.837A>T (p.Ser279=) | |
| 3 | g.69956523A>C | CA353561835 | MITF | c.958A>C (p.Asn320His) c.955A>C (p.Asn319His) n.1180A>C c.931A>C (p.Asn311His) c.1024A>C (p.Asn342His) c.703A>C (p.Asn235His) c.1003A>C (p.Asn335His) c.1006A>C (p.Asn336His) c.685A>C (p.Asn229His) c.976A>C (p.Asn326His) c.850A>C (p.Asn284His) c.*350A>C (n.*350A>C) c.517A>C (p.Asn173His) c.868A>C (p.Asn290His) c.1021A>C (p.Asn341His) c.973A>C (p.Asn325His) c.856A>C (p.Asn286His) c.838A>C (p.Asn280His) | |
| 3 | g.69956523A>G | CA353561836 | MITF | c.958A>G (p.Asn320Asp) c.955A>G (p.Asn319Asp) n.1180A>G c.931A>G (p.Asn311Asp) c.1024A>G (p.Asn342Asp) c.703A>G (p.Asn235Asp) c.1003A>G (p.Asn335Asp) c.1006A>G (p.Asn336Asp) c.685A>G (p.Asn229Asp) c.976A>G (p.Asn326Asp) c.850A>G (p.Asn284Asp) c.*350A>G (n.*350A>G) c.517A>G (p.Asn173Asp) c.868A>G (p.Asn290Asp) c.1021A>G (p.Asn341Asp) c.973A>G (p.Asn325Asp) c.856A>G (p.Asn286Asp) c.838A>G (p.Asn280Asp) | |
| 3 | g.69956523A>T | CA353561837 | MITF | c.958A>T (p.Asn320Tyr) c.955A>T (p.Asn319Tyr) n.1180A>T c.931A>T (p.Asn311Tyr) c.1024A>T (p.Asn342Tyr) c.703A>T (p.Asn235Tyr) c.1003A>T (p.Asn335Tyr) c.1006A>T (p.Asn336Tyr) c.685A>T (p.Asn229Tyr) c.976A>T (p.Asn326Tyr) c.850A>T (p.Asn284Tyr) c.*350A>T (n.*350A>T) c.517A>T (p.Asn173Tyr) c.868A>T (p.Asn290Tyr) c.1021A>T (p.Asn341Tyr) c.973A>T (p.Asn325Tyr) c.856A>T (p.Asn286Tyr) c.838A>T (p.Asn280Tyr) | |
| 3 | g.69956524A>C | CA353561838 | MITF | c.959A>C (p.Asn320Thr) c.956A>C (p.Asn319Thr) n.1181A>C c.932A>C (p.Asn311Thr) c.1025A>C (p.Asn342Thr) c.704A>C (p.Asn235Thr) c.1004A>C (p.Asn335Thr) c.1007A>C (p.Asn336Thr) c.686A>C (p.Asn229Thr) c.977A>C (p.Asn326Thr) c.851A>C (p.Asn284Thr) c.*351A>C (n.*351A>C) c.518A>C (p.Asn173Thr) c.869A>C (p.Asn290Thr) c.1022A>C (p.Asn341Thr) c.974A>C (p.Asn325Thr) c.857A>C (p.Asn286Thr) c.839A>C (p.Asn280Thr) | |
| 3 | g.69956524A>G | CA353561839 | MITF | c.959A>G (p.Asn320Ser) c.956A>G (p.Asn319Ser) n.1181A>G c.932A>G (p.Asn311Ser) c.1025A>G (p.Asn342Ser) c.704A>G (p.Asn235Ser) c.1004A>G (p.Asn335Ser) c.1007A>G (p.Asn336Ser) c.686A>G (p.Asn229Ser) c.977A>G (p.Asn326Ser) c.851A>G (p.Asn284Ser) c.*351A>G (n.*351A>G) c.518A>G (p.Asn173Ser) c.869A>G (p.Asn290Ser) c.1022A>G (p.Asn341Ser) c.974A>G (p.Asn325Ser) c.857A>G (p.Asn286Ser) c.839A>G (p.Asn280Ser) | |
| 3 | g.69956524A>T | CA353561840 | MITF | c.959A>T (p.Asn320Ile) c.956A>T (p.Asn319Ile) n.1181A>T c.932A>T (p.Asn311Ile) c.1025A>T (p.Asn342Ile) c.704A>T (p.Asn235Ile) c.1004A>T (p.Asn335Ile) c.1007A>T (p.Asn336Ile) c.686A>T (p.Asn229Ile) c.977A>T (p.Asn326Ile) c.851A>T (p.Asn284Ile) c.*351A>T (n.*351A>T) c.518A>T (p.Asn173Ile) c.869A>T (p.Asn290Ile) c.1022A>T (p.Asn341Ile) c.974A>T (p.Asn325Ile) c.857A>T (p.Asn286Ile) c.839A>T (p.Asn280Ile) | |
| 3 | g.69956525T>A | CA77002599 | MITF | c.960T>A (p.Asn320Lys) c.957T>A (p.Asn319Lys) n.1182T>A c.933T>A (p.Asn311Lys) c.1026T>A (p.Asn342Lys) c.705T>A (p.Asn235Lys) c.1005T>A (p.Asn335Lys) c.1008T>A (p.Asn336Lys) c.687T>A (p.Asn229Lys) c.978T>A (p.Asn326Lys) c.852T>A (p.Asn284Lys) c.*352T>A (n.*352T>A) c.519T>A (p.Asn173Lys) c.870T>A (p.Asn290Lys) c.1023T>A (p.Asn341Lys) c.975T>A (p.Asn325Lys) c.858T>A (p.Asn286Lys) c.840T>A (p.Asn280Lys) | dbSNP |
| 3 | g.69956525T>C | CA434306495 | MITF | c.960T>C (p.Asn320=) c.957T>C (p.Asn319=) n.1182T>C c.933T>C (p.Asn311=) c.1026T>C (p.Asn342=) c.705T>C (p.Asn235=) c.1005T>C (p.Asn335=) c.1008T>C (p.Asn336=) c.687T>C (p.Asn229=) c.978T>C (p.Asn326=) c.852T>C (p.Asn284=) c.*352T>C (n.*352T>C) c.519T>C (p.Asn173=) c.870T>C (p.Asn290=) c.1023T>C (p.Asn341=) c.975T>C (p.Asn325=) c.858T>C (p.Asn286=) c.840T>C (p.Asn280=) | gnomAD v4 |
| 3 | g.69956525T>G | CA353561841 | MITF | c.960T>G (p.Asn320Lys) c.957T>G (p.Asn319Lys) n.1182T>G c.933T>G (p.Asn311Lys) c.1026T>G (p.Asn342Lys) c.705T>G (p.Asn235Lys) c.1005T>G (p.Asn335Lys) c.1008T>G (p.Asn336Lys) c.687T>G (p.Asn229Lys) c.978T>G (p.Asn326Lys) c.852T>G (p.Asn284Lys) c.*352T>G (n.*352T>G) c.519T>G (p.Asn173Lys) c.870T>G (p.Asn290Lys) c.1023T>G (p.Asn341Lys) c.975T>G (p.Asn325Lys) c.858T>G (p.Asn286Lys) c.840T>G (p.Asn280Lys) | |
| 3 | g.69956525T= | CA1373447915 | MITF | c.960T= (p.Asn320=) c.957T= (p.Asn319=) n.1182T= c.933T= (p.Asn311=) c.1026T= (p.Asn342=) c.705T= (p.Asn235=) c.1005T= (p.Asn335=) c.1008T= (p.Asn336=) c.687T= (p.Asn229=) c.978T= (p.Asn326=) c.852T= (p.Asn284=) c.*352T= (n.*352T=) c.519T= (p.Asn173=) c.870T= (p.Asn290=) c.1023T= (p.Asn341=) c.975T= (p.Asn325=) c.858T= (p.Asn286=) c.840T= (p.Asn280=) | |
| 3 | g.69956526G>A | CA353561842 | MITF | c.961G>A (p.Asp321Asn) c.958G>A (p.Asp320Asn) n.1183G>A c.934G>A (p.Asp312Asn) c.1027G>A (p.Asp343Asn) c.706G>A (p.Asp236Asn) c.1006G>A (p.Asp336Asn) c.1009G>A (p.Asp337Asn) c.688G>A (p.Asp230Asn) c.979G>A (p.Asp327Asn) c.853G>A (p.Asp285Asn) c.*353G>A (n.*353G>A) c.520G>A (p.Asp174Asn) c.871G>A (p.Asp291Asn) c.1024G>A (p.Asp342Asn) c.976G>A (p.Asp326Asn) c.859G>A (p.Asp287Asn) c.841G>A (p.Asp281Asn) | dbSNP |
| 3 | g.69956526G>C | CA353561843 | MITF | c.961G>C (p.Asp321His) c.958G>C (p.Asp320His) n.1183G>C c.934G>C (p.Asp312His) c.1027G>C (p.Asp343His) c.706G>C (p.Asp236His) c.1006G>C (p.Asp336His) c.1009G>C (p.Asp337His) c.688G>C (p.Asp230His) c.979G>C (p.Asp327His) c.853G>C (p.Asp285His) c.*353G>C (n.*353G>C) c.520G>C (p.Asp174His) c.871G>C (p.Asp291His) c.1024G>C (p.Asp342His) c.976G>C (p.Asp326His) c.859G>C (p.Asp287His) c.841G>C (p.Asp281His) | |
| 3 | g.69956526G>T | CA353561844 | MITF | c.961G>T (p.Asp321Tyr) c.958G>T (p.Asp320Tyr) n.1183G>T c.934G>T (p.Asp312Tyr) c.1027G>T (p.Asp343Tyr) c.706G>T (p.Asp236Tyr) c.1006G>T (p.Asp336Tyr) c.1009G>T (p.Asp337Tyr) c.688G>T (p.Asp230Tyr) c.979G>T (p.Asp327Tyr) c.853G>T (p.Asp285Tyr) c.*353G>T (n.*353G>T) c.520G>T (p.Asp174Tyr) c.871G>T (p.Asp291Tyr) c.1024G>T (p.Asp342Tyr) c.976G>T (p.Asp326Tyr) c.859G>T (p.Asp287Tyr) c.841G>T (p.Asp281Tyr) | |
| 3 | g.69956527A>C | CA353561846 | MITF | c.962A>C (p.Asp321Ala) c.959A>C (p.Asp320Ala) n.1184A>C c.935A>C (p.Asp312Ala) c.1028A>C (p.Asp343Ala) c.707A>C (p.Asp236Ala) c.1007A>C (p.Asp336Ala) c.1010A>C (p.Asp337Ala) c.689A>C (p.Asp230Ala) c.980A>C (p.Asp327Ala) c.854A>C (p.Asp285Ala) c.*354A>C (n.*354A>C) c.521A>C (p.Asp174Ala) c.872A>C (p.Asp291Ala) c.1025A>C (p.Asp342Ala) c.977A>C (p.Asp326Ala) c.860A>C (p.Asp287Ala) c.842A>C (p.Asp281Ala) | |
| 3 | g.69956527A>G | CA353561847 | MITF | c.962A>G (p.Asp321Gly) c.959A>G (p.Asp320Gly) n.1184A>G c.935A>G (p.Asp312Gly) c.1028A>G (p.Asp343Gly) c.707A>G (p.Asp236Gly) c.1007A>G (p.Asp336Gly) c.1010A>G (p.Asp337Gly) c.689A>G (p.Asp230Gly) c.980A>G (p.Asp327Gly) c.854A>G (p.Asp285Gly) c.*354A>G (n.*354A>G) c.521A>G (p.Asp174Gly) c.872A>G (p.Asp291Gly) c.1025A>G (p.Asp342Gly) c.977A>G (p.Asp326Gly) c.860A>G (p.Asp287Gly) c.842A>G (p.Asp281Gly) | |
| 3 | g.69956527A>T | CA353561845 | MITF | c.962A>T (p.Asp321Val) c.959A>T (p.Asp320Val) n.1184A>T c.935A>T (p.Asp312Val) c.1028A>T (p.Asp343Val) c.707A>T (p.Asp236Val) c.1007A>T (p.Asp336Val) c.1010A>T (p.Asp337Val) c.689A>T (p.Asp230Val) c.980A>T (p.Asp327Val) c.854A>T (p.Asp285Val) c.*354A>T (n.*354A>T) c.521A>T (p.Asp174Val) c.872A>T (p.Asp291Val) c.1025A>T (p.Asp342Val) c.977A>T (p.Asp326Val) c.860A>T (p.Asp287Val) c.842A>T (p.Asp281Val) | |
| 3 | g.69956528T>A | CA353561848 | MITF | c.963T>A (p.Asp321Glu) c.960T>A (p.Asp320Glu) n.1185T>A c.936T>A (p.Asp312Glu) c.1029T>A (p.Asp343Glu) c.708T>A (p.Asp236Glu) c.1008T>A (p.Asp336Glu) c.1011T>A (p.Asp337Glu) c.690T>A (p.Asp230Glu) c.981T>A (p.Asp327Glu) c.855T>A (p.Asp285Glu) c.*355T>A (n.*355T>A) c.522T>A (p.Asp174Glu) c.873T>A (p.Asp291Glu) c.1026T>A (p.Asp342Glu) c.978T>A (p.Asp326Glu) c.861T>A (p.Asp287Glu) c.843T>A (p.Asp281Glu) | |
| 3 | g.69956528T>C | CA434306509 | MITF | c.963T>C (p.Asp321=) c.960T>C (p.Asp320=) n.1185T>C c.936T>C (p.Asp312=) c.1029T>C (p.Asp343=) c.708T>C (p.Asp236=) c.1008T>C (p.Asp336=) c.1011T>C (p.Asp337=) c.690T>C (p.Asp230=) c.981T>C (p.Asp327=) c.855T>C (p.Asp285=) c.*355T>C (n.*355T>C) c.522T>C (p.Asp174=) c.873T>C (p.Asp291=) c.1026T>C (p.Asp342=) c.978T>C (p.Asp326=) c.861T>C (p.Asp287=) c.843T>C (p.Asp281=) | |
| 3 | g.69956528T>G | CA353561849 | MITF | c.963T>G (p.Asp321Glu) c.960T>G (p.Asp320Glu) n.1185T>G c.936T>G (p.Asp312Glu) c.1029T>G (p.Asp343Glu) c.708T>G (p.Asp236Glu) c.1008T>G (p.Asp336Glu) c.1011T>G (p.Asp337Glu) c.690T>G (p.Asp230Glu) c.981T>G (p.Asp327Glu) c.855T>G (p.Asp285Glu) c.*355T>G (n.*355T>G) c.522T>G (p.Asp174Glu) c.873T>G (p.Asp291Glu) c.1026T>G (p.Asp342Glu) c.978T>G (p.Asp326Glu) c.861T>G (p.Asp287Glu) c.843T>G (p.Asp281Glu) | |
| 3 | g.69956529C>A | CA353561850 | MITF | c.964C>A (p.Pro322Thr) c.961C>A (p.Pro321Thr) n.1186C>A c.937C>A (p.Pro313Thr) c.1030C>A (p.Pro344Thr) c.709C>A (p.Pro237Thr) c.1009C>A (p.Pro337Thr) c.1012C>A (p.Pro338Thr) c.691C>A (p.Pro231Thr) c.982C>A (p.Pro328Thr) c.856C>A (p.Pro286Thr) c.*356C>A (n.*356C>A) c.523C>A (p.Pro175Thr) c.874C>A (p.Pro292Thr) c.1027C>A (p.Pro343Thr) c.979C>A (p.Pro327Thr) c.862C>A (p.Pro288Thr) c.844C>A (p.Pro282Thr) | gnomAD v4 |
| 3 | g.69956529C>G | CA353561851 | MITF | c.964C>G (p.Pro322Ala) c.961C>G (p.Pro321Ala) n.1186C>G c.937C>G (p.Pro313Ala) c.1030C>G (p.Pro344Ala) c.709C>G (p.Pro237Ala) c.1009C>G (p.Pro337Ala) c.1012C>G (p.Pro338Ala) c.691C>G (p.Pro231Ala) c.982C>G (p.Pro328Ala) c.856C>G (p.Pro286Ala) c.*356C>G (n.*356C>G) c.523C>G (p.Pro175Ala) c.874C>G (p.Pro292Ala) c.1027C>G (p.Pro343Ala) c.979C>G (p.Pro327Ala) c.862C>G (p.Pro288Ala) c.844C>G (p.Pro282Ala) | |
| 3 | g.69956529C>T | CA353561852 | MITF | c.964C>T (p.Pro322Ser) c.961C>T (p.Pro321Ser) n.1186C>T c.937C>T (p.Pro313Ser) c.1030C>T (p.Pro344Ser) c.709C>T (p.Pro237Ser) c.1009C>T (p.Pro337Ser) c.1012C>T (p.Pro338Ser) c.691C>T (p.Pro231Ser) c.982C>T (p.Pro328Ser) c.856C>T (p.Pro286Ser) c.*356C>T (n.*356C>T) c.523C>T (p.Pro175Ser) c.874C>T (p.Pro292Ser) c.1027C>T (p.Pro343Ser) c.979C>T (p.Pro327Ser) c.862C>T (p.Pro288Ser) c.844C>T (p.Pro282Ser) | |
| 3 | g.69956530C>A | CA353561853 | MITF | c.965C>A (p.Pro322Gln) c.962C>A (p.Pro321Gln) n.1187C>A c.938C>A (p.Pro313Gln) c.1031C>A (p.Pro344Gln) c.710C>A (p.Pro237Gln) c.1010C>A (p.Pro337Gln) c.1013C>A (p.Pro338Gln) c.692C>A (p.Pro231Gln) c.983C>A (p.Pro328Gln) c.857C>A (p.Pro286Gln) c.*357C>A (n.*357C>A) c.524C>A (p.Pro175Gln) c.875C>A (p.Pro292Gln) c.1028C>A (p.Pro343Gln) c.980C>A (p.Pro327Gln) c.863C>A (p.Pro288Gln) c.845C>A (p.Pro282Gln) | |
| 3 | g.69956530C= | CA1373447916 | MITF | c.965C= (p.Pro322=) c.962C= (p.Pro321=) n.1187C= c.938C= (p.Pro313=) c.1031C= (p.Pro344=) c.710C= (p.Pro237=) c.1010C= (p.Pro337=) c.1013C= (p.Pro338=) c.692C= (p.Pro231=) c.983C= (p.Pro328=) c.857C= (p.Pro286=) c.*357C= (n.*357C=) c.524C= (p.Pro175=) c.875C= (p.Pro292=) c.1028C= (p.Pro343=) c.980C= (p.Pro327=) c.863C= (p.Pro288=) c.845C= (p.Pro282=) | |
| 3 | g.69956530C>G | CA353561854 | MITF | c.965C>G (p.Pro322Arg) c.962C>G (p.Pro321Arg) n.1187C>G c.938C>G (p.Pro313Arg) c.1031C>G (p.Pro344Arg) c.710C>G (p.Pro237Arg) c.1010C>G (p.Pro337Arg) c.1013C>G (p.Pro338Arg) c.692C>G (p.Pro231Arg) c.983C>G (p.Pro328Arg) c.857C>G (p.Pro286Arg) c.*357C>G (n.*357C>G) c.524C>G (p.Pro175Arg) c.875C>G (p.Pro292Arg) c.1028C>G (p.Pro343Arg) c.980C>G (p.Pro327Arg) c.863C>G (p.Pro288Arg) c.845C>G (p.Pro282Arg) | |
| 3 | g.69956530C>T | CA77002600 | MITF | c.965C>T (p.Pro322Leu) c.962C>T (p.Pro321Leu) n.1187C>T c.938C>T (p.Pro313Leu) c.1031C>T (p.Pro344Leu) c.710C>T (p.Pro237Leu) c.1010C>T (p.Pro337Leu) c.1013C>T (p.Pro338Leu) c.692C>T (p.Pro231Leu) c.983C>T (p.Pro328Leu) c.857C>T (p.Pro286Leu) c.*357C>T (n.*357C>T) c.524C>T (p.Pro175Leu) c.875C>T (p.Pro292Leu) c.1028C>T (p.Pro343Leu) c.980C>T (p.Pro327Leu) c.863C>T (p.Pro288Leu) c.845C>T (p.Pro282Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69956531G>A | CA353561855 | MITF | c.965+1G>A (n.965+1G>A) c.962+1G>A (n.962+1G>A) n.1187+1G>A c.938+1G>A (n.938+1G>A) c.1031+1G>A (n.1031+1G>A) c.710+1G>A (n.710+1G>A) c.1010+1G>A (n.1010+1G>A) c.1013+1G>A (n.1013+1G>A) c.692+1G>A (n.692+1G>A) c.983+1G>A (n.983+1G>A) c.857+1G>A (n.857+1G>A) c.*357+1G>A (n.*357+1G>A) c.524+1G>A (n.524+1G>A) c.875+1G>A (n.875+1G>A) c.1028+1G>A (n.1028+1G>A) c.980+1G>A (n.980+1G>A) c.863+1G>A (n.863+1G>A) c.845+1G>A (n.845+1G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.69956531G>C | CA353561856 | MITF | c.965+1G>C (n.965+1G>C) c.962+1G>C (n.962+1G>C) n.1187+1G>C c.938+1G>C (n.938+1G>C) c.1031+1G>C (n.1031+1G>C) c.710+1G>C (n.710+1G>C) c.1010+1G>C (n.1010+1G>C) c.1013+1G>C (n.1013+1G>C) c.692+1G>C (n.692+1G>C) c.983+1G>C (n.983+1G>C) c.857+1G>C (n.857+1G>C) c.*357+1G>C (n.*357+1G>C) c.524+1G>C (n.524+1G>C) c.875+1G>C (n.875+1G>C) c.1028+1G>C (n.1028+1G>C) c.980+1G>C (n.980+1G>C) c.863+1G>C (n.863+1G>C) c.845+1G>C (n.845+1G>C) | |
| 3 | g.69956531G= | CA1373447917 | MITF | c.965+1G= (n.965+1G=) c.962+1G= (n.962+1G=) n.1187+1G= c.938+1G= (n.938+1G=) c.1031+1G= (n.1031+1G=) c.710+1G= (n.710+1G=) c.1010+1G= (n.1010+1G=) c.1013+1G= (n.1013+1G=) c.692+1G= (n.692+1G=) c.983+1G= (n.983+1G=) c.857+1G= (n.857+1G=) c.*357+1G= (n.*357+1G=) c.524+1G= (n.524+1G=) c.875+1G= (n.875+1G=) c.1028+1G= (n.1028+1G=) c.980+1G= (n.980+1G=) c.863+1G= (n.863+1G=) c.845+1G= (n.845+1G=) | |
| 3 | g.69956531G>T | CA353561857 | MITF | c.965+1G>T (n.965+1G>T) c.962+1G>T (n.962+1G>T) n.1187+1G>T c.938+1G>T (n.938+1G>T) c.1031+1G>T (n.1031+1G>T) c.710+1G>T (n.710+1G>T) c.1010+1G>T (n.1010+1G>T) c.1013+1G>T (n.1013+1G>T) c.692+1G>T (n.692+1G>T) c.983+1G>T (n.983+1G>T) c.857+1G>T (n.857+1G>T) c.*357+1G>T (n.*357+1G>T) c.524+1G>T (n.524+1G>T) c.875+1G>T (n.875+1G>T) c.1028+1G>T (n.1028+1G>T) c.980+1G>T (n.980+1G>T) c.863+1G>T (n.863+1G>T) c.845+1G>T (n.845+1G>T) | |
| 3 | g.69956532T>A | CA353561858 | MITF | c.965+2T>A (n.965+2T>A) c.962+2T>A (n.962+2T>A) n.1187+2T>A c.938+2T>A (n.938+2T>A) c.1031+2T>A (n.1031+2T>A) c.710+2T>A (n.710+2T>A) c.1010+2T>A (n.1010+2T>A) c.1013+2T>A (n.1013+2T>A) c.692+2T>A (n.692+2T>A) c.983+2T>A (n.983+2T>A) c.857+2T>A (n.857+2T>A) c.*357+2T>A (n.*357+2T>A) c.524+2T>A (n.524+2T>A) c.875+2T>A (n.875+2T>A) c.1028+2T>A (n.1028+2T>A) c.980+2T>A (n.980+2T>A) c.863+2T>A (n.863+2T>A) c.845+2T>A (n.845+2T>A) | |
| 3 | g.69956532T>C | CA353561859 | MITF | c.965+2T>C (n.965+2T>C) c.962+2T>C (n.962+2T>C) n.1187+2T>C c.938+2T>C (n.938+2T>C) c.1031+2T>C (n.1031+2T>C) c.710+2T>C (n.710+2T>C) c.1010+2T>C (n.1010+2T>C) c.1013+2T>C (n.1013+2T>C) c.692+2T>C (n.692+2T>C) c.983+2T>C (n.983+2T>C) c.857+2T>C (n.857+2T>C) c.*357+2T>C (n.*357+2T>C) c.524+2T>C (n.524+2T>C) c.875+2T>C (n.875+2T>C) c.1028+2T>C (n.1028+2T>C) c.980+2T>C (n.980+2T>C) c.863+2T>C (n.863+2T>C) c.845+2T>C (n.845+2T>C) | |
| 3 | g.69956532T>G | CA353561860 | MITF | c.965+2T>G (n.965+2T>G) c.962+2T>G (n.962+2T>G) n.1187+2T>G c.938+2T>G (n.938+2T>G) c.1031+2T>G (n.1031+2T>G) c.710+2T>G (n.710+2T>G) c.1010+2T>G (n.1010+2T>G) c.1013+2T>G (n.1013+2T>G) c.692+2T>G (n.692+2T>G) c.983+2T>G (n.983+2T>G) c.857+2T>G (n.857+2T>G) c.*357+2T>G (n.*357+2T>G) c.524+2T>G (n.524+2T>G) c.875+2T>G (n.875+2T>G) c.1028+2T>G (n.1028+2T>G) c.980+2T>G (n.980+2T>G) c.863+2T>G (n.863+2T>G) c.845+2T>G (n.845+2T>G) | |
| 3 | g.69956534A= | CA1373447918 | MITF | c.965+4A= (n.965+4A=) c.962+4A= (n.962+4A=) n.1187+4A= c.938+4A= (n.938+4A=) c.1031+4A= (n.1031+4A=) c.710+4A= (n.710+4A=) c.1010+4A= (n.1010+4A=) c.1013+4A= (n.1013+4A=) c.692+4A= (n.692+4A=) c.983+4A= (n.983+4A=) c.857+4A= (n.857+4A=) c.*357+4A= (n.*357+4A=) c.524+4A= (n.524+4A=) c.875+4A= (n.875+4A=) c.1028+4A= (n.1028+4A=) c.980+4A= (n.980+4A=) c.863+4A= (n.863+4A=) c.845+4A= (n.845+4A=) | |
| 3 | g.69956534A>C | CA658822025 | MITF | c.965+4A>C (n.965+4A>C) c.962+4A>C (n.962+4A>C) n.1187+4A>C c.938+4A>C (n.938+4A>C) c.1031+4A>C (n.1031+4A>C) c.710+4A>C (n.710+4A>C) c.1010+4A>C (n.1010+4A>C) c.1013+4A>C (n.1013+4A>C) c.692+4A>C (n.692+4A>C) c.983+4A>C (n.983+4A>C) c.857+4A>C (n.857+4A>C) c.*357+4A>C (n.*357+4A>C) c.524+4A>C (n.524+4A>C) c.875+4A>C (n.875+4A>C) c.1028+4A>C (n.1028+4A>C) c.980+4A>C (n.980+4A>C) c.863+4A>C (n.863+4A>C) c.845+4A>C (n.845+4A>C) | ClinVar dbSNP |
| 3 | g.69956535G>A | CA2703193285 | MITF | c.965+5G>A (n.965+5G>A) c.962+5G>A (n.962+5G>A) n.1187+5G>A c.938+5G>A (n.938+5G>A) c.1031+5G>A (n.1031+5G>A) c.710+5G>A (n.710+5G>A) c.1010+5G>A (n.1010+5G>A) c.1013+5G>A (n.1013+5G>A) c.692+5G>A (n.692+5G>A) c.983+5G>A (n.983+5G>A) c.857+5G>A (n.857+5G>A) c.*357+5G>A (n.*357+5G>A) c.524+5G>A (n.524+5G>A) c.875+5G>A (n.875+5G>A) c.1028+5G>A (n.1028+5G>A) c.980+5G>A (n.980+5G>A) c.863+5G>A (n.863+5G>A) c.845+5G>A (n.845+5G>A) | ClinVar dbSNP |
| 3 | g.69956535G>T | CA2586972651 | MITF | c.965+5G>T (n.965+5G>T) c.962+5G>T (n.962+5G>T) n.1187+5G>T c.938+5G>T (n.938+5G>T) c.1031+5G>T (n.1031+5G>T) c.710+5G>T (n.710+5G>T) c.1010+5G>T (n.1010+5G>T) c.1013+5G>T (n.1013+5G>T) c.692+5G>T (n.692+5G>T) c.983+5G>T (n.983+5G>T) c.857+5G>T (n.857+5G>T) c.*357+5G>T (n.*357+5G>T) c.524+5G>T (n.524+5G>T) c.875+5G>T (n.875+5G>T) c.1028+5G>T (n.1028+5G>T) c.980+5G>T (n.980+5G>T) c.863+5G>T (n.863+5G>T) c.845+5G>T (n.845+5G>T) | |
| 3 | g.69956536T>C | CA2695197932 | MITF | c.965+6T>C (n.965+6T>C) c.962+6T>C (n.962+6T>C) n.1187+6T>C c.938+6T>C (n.938+6T>C) c.1031+6T>C (n.1031+6T>C) c.710+6T>C (n.710+6T>C) c.1010+6T>C (n.1010+6T>C) c.1013+6T>C (n.1013+6T>C) c.692+6T>C (n.692+6T>C) c.983+6T>C (n.983+6T>C) c.857+6T>C (n.857+6T>C) c.*357+6T>C (n.*357+6T>C) c.524+6T>C (n.524+6T>C) c.875+6T>C (n.875+6T>C) c.1028+6T>C (n.1028+6T>C) c.980+6T>C (n.980+6T>C) c.863+6T>C (n.863+6T>C) c.845+6T>C (n.845+6T>C) | ClinVar |
| 3 | g.69956538C>A | CA1373447920 | MITF | c.965+8C>A (n.965+8C>A) c.962+8C>A (n.962+8C>A) n.1187+8C>A c.938+8C>A (n.938+8C>A) c.1031+8C>A (n.1031+8C>A) c.710+8C>A (n.710+8C>A) c.1010+8C>A (n.1010+8C>A) c.1013+8C>A (n.1013+8C>A) c.692+8C>A (n.692+8C>A) c.983+8C>A (n.983+8C>A) c.857+8C>A (n.857+8C>A) c.*357+8C>A (n.*357+8C>A) c.524+8C>A (n.524+8C>A) c.875+8C>A (n.875+8C>A) c.1028+8C>A (n.1028+8C>A) c.980+8C>A (n.980+8C>A) c.863+8C>A (n.863+8C>A) c.845+8C>A (n.845+8C>A) | dbSNP gnomAD v4 |
| 3 | g.69956538C= | CA1373447919 | MITF | c.965+8C= (n.965+8C=) c.962+8C= (n.962+8C=) n.1187+8C= c.938+8C= (n.938+8C=) c.1031+8C= (n.1031+8C=) c.710+8C= (n.710+8C=) c.1010+8C= (n.1010+8C=) c.1013+8C= (n.1013+8C=) c.692+8C= (n.692+8C=) c.983+8C= (n.983+8C=) c.857+8C= (n.857+8C=) c.*357+8C= (n.*357+8C=) c.524+8C= (n.524+8C=) c.875+8C= (n.875+8C=) c.1028+8C= (n.1028+8C=) c.980+8C= (n.980+8C=) c.863+8C= (n.863+8C=) c.845+8C= (n.845+8C=) | |
| 3 | g.69956539A= | CA1373447921 | MITF | c.965+9A= (n.965+9A=) c.962+9A= (n.962+9A=) n.1187+9A= c.938+9A= (n.938+9A=) c.1031+9A= (n.1031+9A=) c.710+9A= (n.710+9A=) c.1010+9A= (n.1010+9A=) c.1013+9A= (n.1013+9A=) c.692+9A= (n.692+9A=) c.983+9A= (n.983+9A=) c.857+9A= (n.857+9A=) c.*357+9A= (n.*357+9A=) c.524+9A= (n.524+9A=) c.875+9A= (n.875+9A=) c.1028+9A= (n.1028+9A=) c.980+9A= (n.980+9A=) c.863+9A= (n.863+9A=) c.845+9A= (n.845+9A=) | |
| 3 | g.69956539A>G | CA2577819661 | MITF | c.965+9A>G (n.965+9A>G) c.962+9A>G (n.962+9A>G) n.1187+9A>G c.938+9A>G (n.938+9A>G) c.1031+9A>G (n.1031+9A>G) c.710+9A>G (n.710+9A>G) c.1010+9A>G (n.1010+9A>G) c.1013+9A>G (n.1013+9A>G) c.692+9A>G (n.692+9A>G) c.983+9A>G (n.983+9A>G) c.857+9A>G (n.857+9A>G) c.*357+9A>G (n.*357+9A>G) c.524+9A>G (n.524+9A>G) c.875+9A>G (n.875+9A>G) c.1028+9A>G (n.1028+9A>G) c.980+9A>G (n.980+9A>G) c.863+9A>G (n.863+9A>G) c.845+9A>G (n.845+9A>G) | gnomAD v4 |
| 3 | g.69956539A>T | CA1373447922 | MITF | c.965+9A>T (n.965+9A>T) c.962+9A>T (n.962+9A>T) n.1187+9A>T c.938+9A>T (n.938+9A>T) c.1031+9A>T (n.1031+9A>T) c.710+9A>T (n.710+9A>T) c.1010+9A>T (n.1010+9A>T) c.1013+9A>T (n.1013+9A>T) c.692+9A>T (n.692+9A>T) c.983+9A>T (n.983+9A>T) c.857+9A>T (n.857+9A>T) c.*357+9A>T (n.*357+9A>T) c.524+9A>T (n.524+9A>T) c.875+9A>T (n.875+9A>T) c.1028+9A>T (n.1028+9A>T) c.980+9A>T (n.980+9A>T) c.863+9A>T (n.863+9A>T) c.845+9A>T (n.845+9A>T) | dbSNP |
| 3 | g.69956540A>G | CA2666480444 | MITF | c.965+10A>G (n.965+10A>G) c.962+10A>G (n.962+10A>G) n.1187+10A>G c.938+10A>G (n.938+10A>G) c.1031+10A>G (n.1031+10A>G) c.710+10A>G (n.710+10A>G) c.1010+10A>G (n.1010+10A>G) c.1013+10A>G (n.1013+10A>G) c.692+10A>G (n.692+10A>G) c.983+10A>G (n.983+10A>G) c.857+10A>G (n.857+10A>G) c.*357+10A>G (n.*357+10A>G) c.524+10A>G (n.524+10A>G) c.875+10A>G (n.875+10A>G) c.1028+10A>G (n.1028+10A>G) c.980+10A>G (n.980+10A>G) c.863+10A>G (n.863+10A>G) c.845+10A>G (n.845+10A>G) | gnomAD v4 |
| 3 | g.69956542C>A | CA1373447926 | MITF | c.965+12C>A (n.965+12C>A) c.962+12C>A (n.962+12C>A) n.1187+12C>A c.938+12C>A (n.938+12C>A) c.1031+12C>A (n.1031+12C>A) c.710+12C>A (n.710+12C>A) c.1010+12C>A (n.1010+12C>A) c.1013+12C>A (n.1013+12C>A) c.692+12C>A (n.692+12C>A) c.983+12C>A (n.983+12C>A) c.857+12C>A (n.857+12C>A) c.*357+12C>A (n.*357+12C>A) c.524+12C>A (n.524+12C>A) c.875+12C>A (n.875+12C>A) c.1028+12C>A (n.1028+12C>A) c.980+12C>A (n.980+12C>A) c.863+12C>A (n.863+12C>A) c.845+12C>A (n.845+12C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.69956542C= | CA1373447925 | MITF | c.965+12C= (n.965+12C=) c.962+12C= (n.962+12C=) n.1187+12C= c.938+12C= (n.938+12C=) c.1031+12C= (n.1031+12C=) c.710+12C= (n.710+12C=) c.1010+12C= (n.1010+12C=) c.1013+12C= (n.1013+12C=) c.692+12C= (n.692+12C=) c.983+12C= (n.983+12C=) c.857+12C= (n.857+12C=) c.*357+12C= (n.*357+12C=) c.524+12C= (n.524+12C=) c.875+12C= (n.875+12C=) c.1028+12C= (n.1028+12C=) c.980+12C= (n.980+12C=) c.863+12C= (n.863+12C=) c.845+12C= (n.845+12C=) | |
| 3 | g.69956542C>T | CA2490531 | MITF | c.965+12C>T (n.965+12C>T) c.962+12C>T (n.962+12C>T) n.1187+12C>T c.938+12C>T (n.938+12C>T) c.1031+12C>T (n.1031+12C>T) c.710+12C>T (n.710+12C>T) c.1010+12C>T (n.1010+12C>T) c.1013+12C>T (n.1013+12C>T) c.692+12C>T (n.692+12C>T) c.983+12C>T (n.983+12C>T) c.857+12C>T (n.857+12C>T) c.*357+12C>T (n.*357+12C>T) c.524+12C>T (n.524+12C>T) c.875+12C>T (n.875+12C>T) c.1028+12C>T (n.1028+12C>T) c.980+12C>T (n.980+12C>T) c.863+12C>T (n.863+12C>T) c.845+12C>T (n.845+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69956542_69956553del | CA2577819662 | MITF | c.965+12_965+23del (n.965+12_965+23del) c.962+12_962+23del (n.962+12_962+23del) n.1187+12_1187+23del c.938+12_938+23del (n.938+12_938+23del) c.1031+12_1031+23del (n.1031+12_1031+23del) c.710+12_710+23del (n.710+12_710+23del) c.1010+12_1010+23del (n.1010+12_1010+23del) c.1013+12_1013+23del (n.1013+12_1013+23del) c.692+12_692+23del (n.692+12_692+23del) c.983+12_983+23del (n.983+12_983+23del) c.857+12_857+23del (n.857+12_857+23del) c.*357+12_*357+23del (n.*357+12_*357+23del) c.524+12_524+23del (n.524+12_524+23del) c.875+12_875+23del (n.875+12_875+23del) c.1028+12_1028+23del (n.1028+12_1028+23del) c.980+12_980+23del (n.980+12_980+23del) c.863+12_863+23del (n.863+12_863+23del) c.845+12_845+23del (n.845+12_845+23del) | |
| 3 | g.69956543G>A | CA2490532 | MITF | c.965+13G>A (n.965+13G>A) c.962+13G>A (n.962+13G>A) n.1187+13G>A c.938+13G>A (n.938+13G>A) c.1031+13G>A (n.1031+13G>A) c.710+13G>A (n.710+13G>A) c.1010+13G>A (n.1010+13G>A) c.1013+13G>A (n.1013+13G>A) c.692+13G>A (n.692+13G>A) c.983+13G>A (n.983+13G>A) c.857+13G>A (n.857+13G>A) c.*357+13G>A (n.*357+13G>A) c.524+13G>A (n.524+13G>A) c.875+13G>A (n.875+13G>A) c.1028+13G>A (n.1028+13G>A) c.980+13G>A (n.980+13G>A) c.863+13G>A (n.863+13G>A) c.845+13G>A (n.845+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69956543G= | CA1373447928 | MITF | c.965+13G= (n.965+13G=) c.962+13G= (n.962+13G=) n.1187+13G= c.938+13G= (n.938+13G=) c.1031+13G= (n.1031+13G=) c.710+13G= (n.710+13G=) c.1010+13G= (n.1010+13G=) c.1013+13G= (n.1013+13G=) c.692+13G= (n.692+13G=) c.983+13G= (n.983+13G=) c.857+13G= (n.857+13G=) c.*357+13G= (n.*357+13G=) c.524+13G= (n.524+13G=) c.875+13G= (n.875+13G=) c.1028+13G= (n.1028+13G=) c.980+13G= (n.980+13G=) c.863+13G= (n.863+13G=) c.845+13G= (n.845+13G=) | |
| 3 | g.69956543G>T | CA2490533 | MITF | c.965+13G>T (n.965+13G>T) c.962+13G>T (n.962+13G>T) n.1187+13G>T c.938+13G>T (n.938+13G>T) c.1031+13G>T (n.1031+13G>T) c.710+13G>T (n.710+13G>T) c.1010+13G>T (n.1010+13G>T) c.1013+13G>T (n.1013+13G>T) c.692+13G>T (n.692+13G>T) c.983+13G>T (n.983+13G>T) c.857+13G>T (n.857+13G>T) c.*357+13G>T (n.*357+13G>T) c.524+13G>T (n.524+13G>T) c.875+13G>T (n.875+13G>T) c.1028+13G>T (n.1028+13G>T) c.980+13G>T (n.980+13G>T) c.863+13G>T (n.863+13G>T) c.845+13G>T (n.845+13G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69956544C>A | CA2666480445 | MITF | c.965+14C>A (n.965+14C>A) c.962+14C>A (n.962+14C>A) n.1187+14C>A c.938+14C>A (n.938+14C>A) c.1031+14C>A (n.1031+14C>A) c.710+14C>A (n.710+14C>A) c.1010+14C>A (n.1010+14C>A) c.1013+14C>A (n.1013+14C>A) c.692+14C>A (n.692+14C>A) c.983+14C>A (n.983+14C>A) c.857+14C>A (n.857+14C>A) c.*357+14C>A (n.*357+14C>A) c.524+14C>A (n.524+14C>A) c.875+14C>A (n.875+14C>A) c.1028+14C>A (n.1028+14C>A) c.980+14C>A (n.980+14C>A) c.863+14C>A (n.863+14C>A) c.845+14C>A (n.845+14C>A) | gnomAD v4 |
| 3 | g.69956544C= | CA1373447933 | MITF | c.965+14C= (n.965+14C=) c.962+14C= (n.962+14C=) n.1187+14C= c.938+14C= (n.938+14C=) c.1031+14C= (n.1031+14C=) c.710+14C= (n.710+14C=) c.1010+14C= (n.1010+14C=) c.1013+14C= (n.1013+14C=) c.692+14C= (n.692+14C=) c.983+14C= (n.983+14C=) c.857+14C= (n.857+14C=) c.*357+14C= (n.*357+14C=) c.524+14C= (n.524+14C=) c.875+14C= (n.875+14C=) c.1028+14C= (n.1028+14C=) c.980+14C= (n.980+14C=) c.863+14C= (n.863+14C=) c.845+14C= (n.845+14C=) | |
| 3 | g.69956544C>T | CA2490534 | MITF | c.965+14C>T (n.965+14C>T) c.962+14C>T (n.962+14C>T) n.1187+14C>T c.938+14C>T (n.938+14C>T) c.1031+14C>T (n.1031+14C>T) c.710+14C>T (n.710+14C>T) c.1010+14C>T (n.1010+14C>T) c.1013+14C>T (n.1013+14C>T) c.692+14C>T (n.692+14C>T) c.983+14C>T (n.983+14C>T) c.857+14C>T (n.857+14C>T) c.*357+14C>T (n.*357+14C>T) c.524+14C>T (n.524+14C>T) c.875+14C>T (n.875+14C>T) c.1028+14C>T (n.1028+14C>T) c.980+14C>T (n.980+14C>T) c.863+14C>T (n.863+14C>T) c.845+14C>T (n.845+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69956545G>A | CA2490535 | MITF | c.965+15G>A (n.965+15G>A) c.962+15G>A (n.962+15G>A) n.1187+15G>A c.938+15G>A (n.938+15G>A) c.1031+15G>A (n.1031+15G>A) c.710+15G>A (n.710+15G>A) c.1010+15G>A (n.1010+15G>A) c.1013+15G>A (n.1013+15G>A) c.692+15G>A (n.692+15G>A) c.983+15G>A (n.983+15G>A) c.857+15G>A (n.857+15G>A) c.*357+15G>A (n.*357+15G>A) c.524+15G>A (n.524+15G>A) c.875+15G>A (n.875+15G>A) c.1028+15G>A (n.1028+15G>A) c.980+15G>A (n.980+15G>A) c.863+15G>A (n.863+15G>A) c.845+15G>A (n.845+15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69956545G= | CA1373447936 | MITF | c.965+15G= (n.965+15G=) c.962+15G= (n.962+15G=) n.1187+15G= c.938+15G= (n.938+15G=) c.1031+15G= (n.1031+15G=) c.710+15G= (n.710+15G=) c.1010+15G= (n.1010+15G=) c.1013+15G= (n.1013+15G=) c.692+15G= (n.692+15G=) c.983+15G= (n.983+15G=) c.857+15G= (n.857+15G=) c.*357+15G= (n.*357+15G=) c.524+15G= (n.524+15G=) c.875+15G= (n.875+15G=) c.1028+15G= (n.1028+15G=) c.980+15G= (n.980+15G=) c.863+15G= (n.863+15G=) c.845+15G= (n.845+15G=) | |
| 3 | g.69956545G>T | CA2666480447 | MITF | c.965+15G>T (n.965+15G>T) c.962+15G>T (n.962+15G>T) n.1187+15G>T c.938+15G>T (n.938+15G>T) c.1031+15G>T (n.1031+15G>T) c.710+15G>T (n.710+15G>T) c.1010+15G>T (n.1010+15G>T) c.1013+15G>T (n.1013+15G>T) c.692+15G>T (n.692+15G>T) c.983+15G>T (n.983+15G>T) c.857+15G>T (n.857+15G>T) c.*357+15G>T (n.*357+15G>T) c.524+15G>T (n.524+15G>T) c.875+15G>T (n.875+15G>T) c.1028+15G>T (n.1028+15G>T) c.980+15G>T (n.980+15G>T) c.863+15G>T (n.863+15G>T) c.845+15G>T (n.845+15G>T) | gnomAD v4 |
| 3 | g.69956547_69956548del | CA2666480446 | MITF | c.965+17_965+18del (n.965+17_965+18del) c.962+17_962+18del (n.962+17_962+18del) n.1187+17_1187+18del c.938+17_938+18del (n.938+17_938+18del) c.1031+17_1031+18del (n.1031+17_1031+18del) c.710+17_710+18del (n.710+17_710+18del) c.1010+17_1010+18del (n.1010+17_1010+18del) c.1013+17_1013+18del (n.1013+17_1013+18del) c.692+17_692+18del (n.692+17_692+18del) c.983+17_983+18del (n.983+17_983+18del) c.857+17_857+18del (n.857+17_857+18del) c.*357+17_*357+18del (n.*357+17_*357+18del) c.524+17_524+18del (n.524+17_524+18del) c.875+17_875+18del (n.875+17_875+18del) c.1028+17_1028+18del (n.1028+17_1028+18del) c.980+17_980+18del (n.980+17_980+18del) c.863+17_863+18del (n.863+17_863+18del) c.845+17_845+18del (n.845+17_845+18del) | gnomAD v4 |
| 3 | g.69956547G>A | CA2666480448 | MITF | c.965+17G>A (n.965+17G>A) c.962+17G>A (n.962+17G>A) n.1187+17G>A c.938+17G>A (n.938+17G>A) c.1031+17G>A (n.1031+17G>A) c.710+17G>A (n.710+17G>A) c.1010+17G>A (n.1010+17G>A) c.1013+17G>A (n.1013+17G>A) c.692+17G>A (n.692+17G>A) c.983+17G>A (n.983+17G>A) c.857+17G>A (n.857+17G>A) c.*357+17G>A (n.*357+17G>A) c.524+17G>A (n.524+17G>A) c.875+17G>A (n.875+17G>A) c.1028+17G>A (n.1028+17G>A) c.980+17G>A (n.980+17G>A) c.863+17G>A (n.863+17G>A) c.845+17G>A (n.845+17G>A) | dbSNP gnomAD v4 |
| 3 | g.69956547G>C | CA2666480449 | MITF | c.965+17G>C (n.965+17G>C) c.962+17G>C (n.962+17G>C) n.1187+17G>C c.938+17G>C (n.938+17G>C) c.1031+17G>C (n.1031+17G>C) c.710+17G>C (n.710+17G>C) c.1010+17G>C (n.1010+17G>C) c.1013+17G>C (n.1013+17G>C) c.692+17G>C (n.692+17G>C) c.983+17G>C (n.983+17G>C) c.857+17G>C (n.857+17G>C) c.*357+17G>C (n.*357+17G>C) c.524+17G>C (n.524+17G>C) c.875+17G>C (n.875+17G>C) c.1028+17G>C (n.1028+17G>C) c.980+17G>C (n.980+17G>C) c.863+17G>C (n.863+17G>C) c.845+17G>C (n.845+17G>C) | gnomAD v4 |
| 3 | g.69956547G= | CA1373447940 | MITF | c.965+17G= (n.965+17G=) c.962+17G= (n.962+17G=) n.1187+17G= c.938+17G= (n.938+17G=) c.1031+17G= (n.1031+17G=) c.710+17G= (n.710+17G=) c.1010+17G= (n.1010+17G=) c.1013+17G= (n.1013+17G=) c.692+17G= (n.692+17G=) c.983+17G= (n.983+17G=) c.857+17G= (n.857+17G=) c.*357+17G= (n.*357+17G=) c.524+17G= (n.524+17G=) c.875+17G= (n.875+17G=) c.1028+17G= (n.1028+17G=) c.980+17G= (n.980+17G=) c.863+17G= (n.863+17G=) c.845+17G= (n.845+17G=) | |
| 3 | g.69956547G>T | CA1373447941 | MITF | c.965+17G>T (n.965+17G>T) c.962+17G>T (n.962+17G>T) n.1187+17G>T c.938+17G>T (n.938+17G>T) c.1031+17G>T (n.1031+17G>T) c.710+17G>T (n.710+17G>T) c.1010+17G>T (n.1010+17G>T) c.1013+17G>T (n.1013+17G>T) c.692+17G>T (n.692+17G>T) c.983+17G>T (n.983+17G>T) c.857+17G>T (n.857+17G>T) c.*357+17G>T (n.*357+17G>T) c.524+17G>T (n.524+17G>T) c.875+17G>T (n.875+17G>T) c.1028+17G>T (n.1028+17G>T) c.980+17G>T (n.980+17G>T) c.863+17G>T (n.863+17G>T) c.845+17G>T (n.845+17G>T) | dbSNP |
| 3 | g.69956548T>C | CA2666480450 | MITF | c.965+18T>C (n.965+18T>C) c.962+18T>C (n.962+18T>C) n.1187+18T>C c.938+18T>C (n.938+18T>C) c.1031+18T>C (n.1031+18T>C) c.710+18T>C (n.710+18T>C) c.1010+18T>C (n.1010+18T>C) c.1013+18T>C (n.1013+18T>C) c.692+18T>C (n.692+18T>C) c.983+18T>C (n.983+18T>C) c.857+18T>C (n.857+18T>C) c.*357+18T>C (n.*357+18T>C) c.524+18T>C (n.524+18T>C) c.875+18T>C (n.875+18T>C) c.1028+18T>C (n.1028+18T>C) c.980+18T>C (n.980+18T>C) c.863+18T>C (n.863+18T>C) c.845+18T>C (n.845+18T>C) | gnomAD v4 |
| 3 | g.69956550A>G | CA648128557 | MITF | c.965+20A>G (n.965+20A>G) c.962+20A>G (n.962+20A>G) n.1187+20A>G c.938+20A>G (n.938+20A>G) c.1031+20A>G (n.1031+20A>G) c.710+20A>G (n.710+20A>G) c.1010+20A>G (n.1010+20A>G) c.1013+20A>G (n.1013+20A>G) c.692+20A>G (n.692+20A>G) c.983+20A>G (n.983+20A>G) c.857+20A>G (n.857+20A>G) c.*357+20A>G (n.*357+20A>G) c.524+20A>G (n.524+20A>G) c.875+20A>G (n.875+20A>G) c.1028+20A>G (n.1028+20A>G) c.980+20A>G (n.980+20A>G) c.863+20A>G (n.863+20A>G) c.845+20A>G (n.845+20A>G) | COSMIC |
| 3 | g.69956552T>C | CA2666480451 | MITF | c.965+22T>C (n.965+22T>C) c.962+22T>C (n.962+22T>C) n.1187+22T>C c.938+22T>C (n.938+22T>C) c.1031+22T>C (n.1031+22T>C) c.710+22T>C (n.710+22T>C) c.1010+22T>C (n.1010+22T>C) c.1013+22T>C (n.1013+22T>C) c.692+22T>C (n.692+22T>C) c.983+22T>C (n.983+22T>C) c.857+22T>C (n.857+22T>C) c.*357+22T>C (n.*357+22T>C) c.524+22T>C (n.524+22T>C) c.875+22T>C (n.875+22T>C) c.1028+22T>C (n.1028+22T>C) c.980+22T>C (n.980+22T>C) c.863+22T>C (n.863+22T>C) c.845+22T>C (n.845+22T>C) | gnomAD v4 |
| 3 | g.69956553C>A | CA2666480452 | MITF | c.965+23C>A (n.965+23C>A) c.962+23C>A (n.962+23C>A) n.1187+23C>A c.938+23C>A (n.938+23C>A) c.1031+23C>A (n.1031+23C>A) c.710+23C>A (n.710+23C>A) c.1010+23C>A (n.1010+23C>A) c.1013+23C>A (n.1013+23C>A) c.692+23C>A (n.692+23C>A) c.983+23C>A (n.983+23C>A) c.857+23C>A (n.857+23C>A) c.*357+23C>A (n.*357+23C>A) c.524+23C>A (n.524+23C>A) c.875+23C>A (n.875+23C>A) c.1028+23C>A (n.1028+23C>A) c.980+23C>A (n.980+23C>A) c.863+23C>A (n.863+23C>A) c.845+23C>A (n.845+23C>A) | gnomAD v4 |
| 3 | g.69956554T>C | CA2577819663 | MITF | c.965+24T>C (n.965+24T>C) c.962+24T>C (n.962+24T>C) n.1187+24T>C c.938+24T>C (n.938+24T>C) c.1031+24T>C (n.1031+24T>C) c.710+24T>C (n.710+24T>C) c.1010+24T>C (n.1010+24T>C) c.1013+24T>C (n.1013+24T>C) c.692+24T>C (n.692+24T>C) c.983+24T>C (n.983+24T>C) c.857+24T>C (n.857+24T>C) c.*357+24T>C (n.*357+24T>C) c.524+24T>C (n.524+24T>C) c.875+24T>C (n.875+24T>C) c.1028+24T>C (n.1028+24T>C) c.980+24T>C (n.980+24T>C) c.863+24T>C (n.863+24T>C) c.845+24T>C (n.845+24T>C) | |
| 3 | g.69956555G>A | CA2666480453 | MITF | c.965+25G>A (n.965+25G>A) c.962+25G>A (n.962+25G>A) n.1187+25G>A c.938+25G>A (n.938+25G>A) c.1031+25G>A (n.1031+25G>A) c.710+25G>A (n.710+25G>A) c.1010+25G>A (n.1010+25G>A) c.1013+25G>A (n.1013+25G>A) c.692+25G>A (n.692+25G>A) c.983+25G>A (n.983+25G>A) c.857+25G>A (n.857+25G>A) c.*357+25G>A (n.*357+25G>A) c.524+25G>A (n.524+25G>A) c.875+25G>A (n.875+25G>A) c.1028+25G>A (n.1028+25G>A) c.980+25G>A (n.980+25G>A) c.863+25G>A (n.863+25G>A) c.845+25G>A (n.845+25G>A) | dbSNP gnomAD v4 |
| 3 | g.69956556C>A | CA2577819664 | MITF | c.965+26C>A (n.965+26C>A) c.962+26C>A (n.962+26C>A) n.1187+26C>A c.938+26C>A (n.938+26C>A) c.1031+26C>A (n.1031+26C>A) c.710+26C>A (n.710+26C>A) c.1010+26C>A (n.1010+26C>A) c.1013+26C>A (n.1013+26C>A) c.692+26C>A (n.692+26C>A) c.983+26C>A (n.983+26C>A) c.857+26C>A (n.857+26C>A) c.*357+26C>A (n.*357+26C>A) c.524+26C>A (n.524+26C>A) c.875+26C>A (n.875+26C>A) c.1028+26C>A (n.1028+26C>A) c.980+26C>A (n.980+26C>A) c.863+26C>A (n.863+26C>A) c.845+26C>A (n.845+26C>A) | gnomAD v4 |
| 3 | g.69956557A= | CA1373447944 | MITF | c.965+27A= (n.965+27A=) c.962+27A= (n.962+27A=) n.1187+27A= c.938+27A= (n.938+27A=) c.1031+27A= (n.1031+27A=) c.710+27A= (n.710+27A=) c.1010+27A= (n.1010+27A=) c.1013+27A= (n.1013+27A=) c.692+27A= (n.692+27A=) c.983+27A= (n.983+27A=) c.857+27A= (n.857+27A=) c.*357+27A= (n.*357+27A=) c.524+27A= (n.524+27A=) c.875+27A= (n.875+27A=) c.1028+27A= (n.1028+27A=) c.980+27A= (n.980+27A=) c.863+27A= (n.863+27A=) c.845+27A= (n.845+27A=) | |
| 3 | g.69956557A>G | CA909844416 | MITF | c.965+27A>G (n.965+27A>G) c.962+27A>G (n.962+27A>G) n.1187+27A>G c.938+27A>G (n.938+27A>G) c.1031+27A>G (n.1031+27A>G) c.710+27A>G (n.710+27A>G) c.1010+27A>G (n.1010+27A>G) c.1013+27A>G (n.1013+27A>G) c.692+27A>G (n.692+27A>G) c.983+27A>G (n.983+27A>G) c.857+27A>G (n.857+27A>G) c.*357+27A>G (n.*357+27A>G) c.524+27A>G (n.524+27A>G) c.875+27A>G (n.875+27A>G) c.1028+27A>G (n.1028+27A>G) c.980+27A>G (n.980+27A>G) c.863+27A>G (n.863+27A>G) c.845+27A>G (n.845+27A>G) | dbSNP gnomAD v4 |
| 3 | g.69956557A>T | CA2490536 | MITF | c.965+27A>T (n.965+27A>T) c.962+27A>T (n.962+27A>T) n.1187+27A>T c.938+27A>T (n.938+27A>T) c.1031+27A>T (n.1031+27A>T) c.710+27A>T (n.710+27A>T) c.1010+27A>T (n.1010+27A>T) c.1013+27A>T (n.1013+27A>T) c.692+27A>T (n.692+27A>T) c.983+27A>T (n.983+27A>T) c.857+27A>T (n.857+27A>T) c.*357+27A>T (n.*357+27A>T) c.524+27A>T (n.524+27A>T) c.875+27A>T (n.875+27A>T) c.1028+27A>T (n.1028+27A>T) c.980+27A>T (n.980+27A>T) c.863+27A>T (n.863+27A>T) c.845+27A>T (n.845+27A>T) | dbSNP ExAC gnomAD v2 |
| 3 | g.69956558T>C | CA1373447948 | MITF | c.965+28T>C (n.965+28T>C) c.962+28T>C (n.962+28T>C) n.1187+28T>C c.938+28T>C (n.938+28T>C) c.1031+28T>C (n.1031+28T>C) c.710+28T>C (n.710+28T>C) c.1010+28T>C (n.1010+28T>C) c.1013+28T>C (n.1013+28T>C) c.692+28T>C (n.692+28T>C) c.983+28T>C (n.983+28T>C) c.857+28T>C (n.857+28T>C) c.*357+28T>C (n.*357+28T>C) c.524+28T>C (n.524+28T>C) c.875+28T>C (n.875+28T>C) c.1028+28T>C (n.1028+28T>C) c.980+28T>C (n.980+28T>C) c.863+28T>C (n.863+28T>C) c.845+28T>C (n.845+28T>C) | dbSNP |
| 3 | g.69956558T= | CA1373447947 | MITF | c.965+28T= (n.965+28T=) c.962+28T= (n.962+28T=) n.1187+28T= c.938+28T= (n.938+28T=) c.1031+28T= (n.1031+28T=) c.710+28T= (n.710+28T=) c.1010+28T= (n.1010+28T=) c.1013+28T= (n.1013+28T=) c.692+28T= (n.692+28T=) c.983+28T= (n.983+28T=) c.857+28T= (n.857+28T=) c.*357+28T= (n.*357+28T=) c.524+28T= (n.524+28T=) c.875+28T= (n.875+28T=) c.1028+28T= (n.1028+28T=) c.980+28T= (n.980+28T=) c.863+28T= (n.863+28T=) c.845+28T= (n.845+28T=) | |
| 3 | g.69956559C>A | CA2666480454 | MITF | c.965+29C>A (n.965+29C>A) c.962+29C>A (n.962+29C>A) n.1187+29C>A c.938+29C>A (n.938+29C>A) c.1031+29C>A (n.1031+29C>A) c.710+29C>A (n.710+29C>A) c.1010+29C>A (n.1010+29C>A) c.1013+29C>A (n.1013+29C>A) c.692+29C>A (n.692+29C>A) c.983+29C>A (n.983+29C>A) c.857+29C>A (n.857+29C>A) c.*357+29C>A (n.*357+29C>A) c.524+29C>A (n.524+29C>A) c.875+29C>A (n.875+29C>A) c.1028+29C>A (n.1028+29C>A) c.980+29C>A (n.980+29C>A) c.863+29C>A (n.863+29C>A) c.845+29C>A (n.845+29C>A) | gnomAD v4 |
| 3 | g.69956560A= | CA1373447951 | MITF | c.965+30A= (n.965+30A=) c.962+30A= (n.962+30A=) n.1187+30A= c.938+30A= (n.938+30A=) c.1031+30A= (n.1031+30A=) c.710+30A= (n.710+30A=) c.1010+30A= (n.1010+30A=) c.1013+30A= (n.1013+30A=) c.692+30A= (n.692+30A=) c.983+30A= (n.983+30A=) c.857+30A= (n.857+30A=) c.*357+30A= (n.*357+30A=) c.524+30A= (n.524+30A=) c.875+30A= (n.875+30A=) c.1028+30A= (n.1028+30A=) c.980+30A= (n.980+30A=) c.863+30A= (n.863+30A=) c.845+30A= (n.845+30A=) | |
| 3 | g.69956560A>G | CA909844422 | MITF | c.965+30A>G (n.965+30A>G) c.962+30A>G (n.962+30A>G) n.1187+30A>G c.938+30A>G (n.938+30A>G) c.1031+30A>G (n.1031+30A>G) c.710+30A>G (n.710+30A>G) c.1010+30A>G (n.1010+30A>G) c.1013+30A>G (n.1013+30A>G) c.692+30A>G (n.692+30A>G) c.983+30A>G (n.983+30A>G) c.857+30A>G (n.857+30A>G) c.*357+30A>G (n.*357+30A>G) c.524+30A>G (n.524+30A>G) c.875+30A>G (n.875+30A>G) c.1028+30A>G (n.1028+30A>G) c.980+30A>G (n.980+30A>G) c.863+30A>G (n.863+30A>G) c.845+30A>G (n.845+30A>G) | dbSNP gnomAD v3 gnomAD v4 |