| 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) |