| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69956454G>A | CA16044012 | MITF | c.890-1G>A (n.890-1G>A) c.887-1G>A (n.887-1G>A) n.1112-1G>A c.863-1G>A (n.863-1G>A) c.956-1G>A (n.956-1G>A) c.635-1G>A (n.635-1G>A) c.935-1G>A (n.935-1G>A) c.938-1G>A (n.938-1G>A) c.617-1G>A (n.617-1G>A) c.908-1G>A (n.908-1G>A) c.782-1G>A (n.782-1G>A) c.*282-1G>A (n.*282-1G>A) c.449-1G>A (n.449-1G>A) c.800-1G>A (n.800-1G>A) c.953-1G>A (n.953-1G>A) c.905-1G>A (n.905-1G>A) c.788-1G>A (n.788-1G>A) c.770-1G>A (n.770-1G>A) | ClinVar dbSNP |
| 3 | g.69956454G>C | CA353561686 | MITF | c.890-1G>C (n.890-1G>C) c.887-1G>C (n.887-1G>C) n.1112-1G>C c.863-1G>C (n.863-1G>C) c.956-1G>C (n.956-1G>C) c.635-1G>C (n.635-1G>C) c.935-1G>C (n.935-1G>C) c.938-1G>C (n.938-1G>C) c.617-1G>C (n.617-1G>C) c.908-1G>C (n.908-1G>C) c.782-1G>C (n.782-1G>C) c.*282-1G>C (n.*282-1G>C) c.449-1G>C (n.449-1G>C) c.800-1G>C (n.800-1G>C) c.953-1G>C (n.953-1G>C) c.905-1G>C (n.905-1G>C) c.788-1G>C (n.788-1G>C) c.770-1G>C (n.770-1G>C) | |
| 3 | g.69956454G= | CA1373447484 | MITF | c.890-1G= (n.890-1G=) c.887-1G= (n.887-1G=) n.1112-1G= c.863-1G= (n.863-1G=) c.956-1G= (n.956-1G=) c.635-1G= (n.635-1G=) c.935-1G= (n.935-1G=) c.938-1G= (n.938-1G=) c.617-1G= (n.617-1G=) c.908-1G= (n.908-1G=) c.782-1G= (n.782-1G=) c.*282-1G= (n.*282-1G=) c.449-1G= (n.449-1G=) c.800-1G= (n.800-1G=) c.953-1G= (n.953-1G=) c.905-1G= (n.905-1G=) c.788-1G= (n.788-1G=) c.770-1G= (n.770-1G=) | |
| 3 | g.69956454G>T | CA353561687 | MITF | c.890-1G>T (n.890-1G>T) c.887-1G>T (n.887-1G>T) n.1112-1G>T c.863-1G>T (n.863-1G>T) c.956-1G>T (n.956-1G>T) c.635-1G>T (n.635-1G>T) c.935-1G>T (n.935-1G>T) c.938-1G>T (n.938-1G>T) c.617-1G>T (n.617-1G>T) c.908-1G>T (n.908-1G>T) c.782-1G>T (n.782-1G>T) c.*282-1G>T (n.*282-1G>T) c.449-1G>T (n.449-1G>T) c.800-1G>T (n.800-1G>T) c.953-1G>T (n.953-1G>T) c.905-1G>T (n.905-1G>T) c.788-1G>T (n.788-1G>T) c.770-1G>T (n.770-1G>T) | |
| 3 | g.69956455T>A | CA353561688 | MITF | c.890T>A (p.Ile297Asn) c.887T>A (p.Ile296Asn) n.1112T>A c.863T>A (p.Ile288Asn) c.956T>A (p.Ile319Asn) c.635T>A (p.Ile212Asn) c.935T>A (p.Ile312Asn) c.938T>A (p.Ile313Asn) c.617T>A (p.Ile206Asn) c.908T>A (p.Ile303Asn) c.782T>A (p.Ile261Asn) c.*282T>A (n.*282T>A) c.449T>A (p.Ile150Asn) c.800T>A (p.Ile267Asn) c.953T>A (p.Ile318Asn) c.905T>A (p.Ile302Asn) c.788T>A (p.Ile263Asn) c.770T>A (p.Ile257Asn) | |
| 3 | g.69956455T>C | CA353561689 | MITF | c.890T>C (p.Ile297Thr) c.887T>C (p.Ile296Thr) n.1112T>C c.863T>C (p.Ile288Thr) c.956T>C (p.Ile319Thr) c.635T>C (p.Ile212Thr) c.935T>C (p.Ile312Thr) c.938T>C (p.Ile313Thr) c.617T>C (p.Ile206Thr) c.908T>C (p.Ile303Thr) c.782T>C (p.Ile261Thr) c.*282T>C (n.*282T>C) c.449T>C (p.Ile150Thr) c.800T>C (p.Ile267Thr) c.953T>C (p.Ile318Thr) c.905T>C (p.Ile302Thr) c.788T>C (p.Ile263Thr) c.770T>C (p.Ile257Thr) | |
| 3 | g.69956455T>G | CA353561690 | MITF | c.890T>G (p.Ile297Ser) c.887T>G (p.Ile296Ser) n.1112T>G c.863T>G (p.Ile288Ser) c.956T>G (p.Ile319Ser) c.635T>G (p.Ile212Ser) c.935T>G (p.Ile312Ser) c.938T>G (p.Ile313Ser) c.617T>G (p.Ile206Ser) c.908T>G (p.Ile303Ser) c.782T>G (p.Ile261Ser) c.*282T>G (n.*282T>G) c.449T>G (p.Ile150Ser) c.800T>G (p.Ile267Ser) c.953T>G (p.Ile318Ser) c.905T>G (p.Ile302Ser) c.788T>G (p.Ile263Ser) c.770T>G (p.Ile257Ser) | ClinVar |
| 3 | g.69956456T>A | CA434306320 | MITF | c.891T>A (p.Ile297=) c.888T>A (p.Ile296=) n.1113T>A c.864T>A (p.Ile288=) c.957T>A (p.Ile319=) c.636T>A (p.Ile212=) c.936T>A (p.Ile312=) c.939T>A (p.Ile313=) c.618T>A (p.Ile206=) c.909T>A (p.Ile303=) c.783T>A (p.Ile261=) c.*283T>A (n.*283T>A) c.450T>A (p.Ile150=) c.801T>A (p.Ile267=) c.954T>A (p.Ile318=) c.906T>A (p.Ile302=) c.789T>A (p.Ile263=) c.771T>A (p.Ile257=) | |
| 3 | g.69956456T>C | CA434306321 | MITF | c.891T>C (p.Ile297=) c.888T>C (p.Ile296=) n.1113T>C c.864T>C (p.Ile288=) c.957T>C (p.Ile319=) c.636T>C (p.Ile212=) c.936T>C (p.Ile312=) c.939T>C (p.Ile313=) c.618T>C (p.Ile206=) c.909T>C (p.Ile303=) c.783T>C (p.Ile261=) c.*283T>C (n.*283T>C) c.450T>C (p.Ile150=) c.801T>C (p.Ile267=) c.954T>C (p.Ile318=) c.906T>C (p.Ile302=) c.789T>C (p.Ile263=) c.771T>C (p.Ile257=) | ClinVar |
| 3 | g.69956456T>G | CA353561691 | MITF | c.891T>G (p.Ile297Met) c.888T>G (p.Ile296Met) n.1113T>G c.864T>G (p.Ile288Met) c.957T>G (p.Ile319Met) c.636T>G (p.Ile212Met) c.936T>G (p.Ile312Met) c.939T>G (p.Ile313Met) c.618T>G (p.Ile206Met) c.909T>G (p.Ile303Met) c.783T>G (p.Ile261Met) c.*283T>G (n.*283T>G) c.450T>G (p.Ile150Met) c.801T>G (p.Ile267Met) c.954T>G (p.Ile318Met) c.906T>G (p.Ile302Met) c.789T>G (p.Ile263Met) c.771T>G (p.Ile257Met) | |
| 3 | g.69956457G>A | CA353561692 | MITF | c.892G>A (p.Glu298Lys) c.889G>A (p.Glu297Lys) n.1114G>A c.865G>A (p.Glu289Lys) c.958G>A (p.Glu320Lys) c.637G>A (p.Glu213Lys) c.937G>A (p.Glu313Lys) c.940G>A (p.Glu314Lys) c.619G>A (p.Glu207Lys) c.910G>A (p.Glu304Lys) c.784G>A (p.Glu262Lys) c.*284G>A (n.*284G>A) c.451G>A (p.Glu151Lys) c.802G>A (p.Glu268Lys) c.955G>A (p.Glu319Lys) c.907G>A (p.Glu303Lys) c.790G>A (p.Glu264Lys) c.772G>A (p.Glu258Lys) | |
| 3 | g.69956457G>C | CA16605010 | MITF | c.892G>C (p.Glu298Gln) c.889G>C (p.Glu297Gln) n.1114G>C c.865G>C (p.Glu289Gln) c.958G>C (p.Glu320Gln) c.637G>C (p.Glu213Gln) c.937G>C (p.Glu313Gln) c.940G>C (p.Glu314Gln) c.619G>C (p.Glu207Gln) c.910G>C (p.Glu304Gln) c.784G>C (p.Glu262Gln) c.*284G>C (n.*284G>C) c.451G>C (p.Glu151Gln) c.802G>C (p.Glu268Gln) c.955G>C (p.Glu319Gln) c.907G>C (p.Glu303Gln) c.790G>C (p.Glu264Gln) c.772G>C (p.Glu258Gln) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 3 | g.69956457G= | CA1373447495 | MITF | c.892G= (p.Glu298=) c.889G= (p.Glu297=) n.1114G= c.865G= (p.Glu289=) c.958G= (p.Glu320=) c.637G= (p.Glu213=) c.937G= (p.Glu313=) c.940G= (p.Glu314=) c.619G= (p.Glu207=) c.910G= (p.Glu304=) c.784G= (p.Glu262=) c.*284G= (n.*284G=) c.451G= (p.Glu151=) c.802G= (p.Glu268=) c.955G= (p.Glu319=) c.907G= (p.Glu303=) c.790G= (p.Glu264=) c.772G= (p.Glu258=) | |
| 3 | g.69956457G>T | CA353561693 | MITF | c.892G>T (p.Glu298Ter) c.889G>T (p.Glu297Ter) n.1114G>T c.865G>T (p.Glu289Ter) c.958G>T (p.Glu320Ter) c.637G>T (p.Glu213Ter) c.937G>T (p.Glu313Ter) c.940G>T (p.Glu314Ter) c.619G>T (p.Glu207Ter) c.910G>T (p.Glu304Ter) c.784G>T (p.Glu262Ter) c.*284G>T (n.*284G>T) c.451G>T (p.Glu151Ter) c.802G>T (p.Glu268Ter) c.955G>T (p.Glu319Ter) c.907G>T (p.Glu303Ter) c.790G>T (p.Glu264Ter) c.772G>T (p.Glu258Ter) | |
| 3 | g.69956458A>C | CA353561694 | MITF | c.893A>C (p.Glu298Ala) c.890A>C (p.Glu297Ala) n.1115A>C c.866A>C (p.Glu289Ala) c.959A>C (p.Glu320Ala) c.638A>C (p.Glu213Ala) c.938A>C (p.Glu313Ala) c.941A>C (p.Glu314Ala) c.620A>C (p.Glu207Ala) c.911A>C (p.Glu304Ala) c.785A>C (p.Glu262Ala) c.*285A>C (n.*285A>C) c.452A>C (p.Glu151Ala) c.803A>C (p.Glu268Ala) c.956A>C (p.Glu319Ala) c.908A>C (p.Glu303Ala) c.791A>C (p.Glu264Ala) c.773A>C (p.Glu258Ala) | |
| 3 | g.69956458A>G | CA353561695 | MITF | c.893A>G (p.Glu298Gly) c.890A>G (p.Glu297Gly) n.1115A>G c.866A>G (p.Glu289Gly) c.959A>G (p.Glu320Gly) c.638A>G (p.Glu213Gly) c.938A>G (p.Glu313Gly) c.941A>G (p.Glu314Gly) c.620A>G (p.Glu207Gly) c.911A>G (p.Glu304Gly) c.785A>G (p.Glu262Gly) c.*285A>G (n.*285A>G) c.452A>G (p.Glu151Gly) c.803A>G (p.Glu268Gly) c.956A>G (p.Glu319Gly) c.908A>G (p.Glu303Gly) c.791A>G (p.Glu264Gly) c.773A>G (p.Glu258Gly) | |
| 3 | g.69956458A>T | CA353561696 | MITF | c.893A>T (p.Glu298Val) c.890A>T (p.Glu297Val) n.1115A>T c.866A>T (p.Glu289Val) c.959A>T (p.Glu320Val) c.638A>T (p.Glu213Val) c.938A>T (p.Glu313Val) c.941A>T (p.Glu314Val) c.620A>T (p.Glu207Val) c.911A>T (p.Glu304Val) c.785A>T (p.Glu262Val) c.*285A>T (n.*285A>T) c.452A>T (p.Glu151Val) c.803A>T (p.Glu268Val) c.956A>T (p.Glu319Val) c.908A>T (p.Glu303Val) c.791A>T (p.Glu264Val) c.773A>T (p.Glu258Val) | |
| 3 | g.69956459del | CA2586972644 | MITF | c.894del (p.Glu298AspfsTer8) c.891del (p.Glu297AspfsTer8) n.1116del c.867del (p.Glu289AspfsTer8) c.960del (p.Glu320AspfsTer8) c.639del (p.Glu213AspfsTer8) c.939del (p.Glu313AspfsTer8) c.942del (p.Glu314AspfsTer8) c.621del (p.Glu207AspfsTer8) c.912del (p.Glu304AspfsTer8) c.786del (p.Glu262AspfsTer8) c.*286del (n.*286del) c.453del (p.Glu151AspfsTer8) c.804del (p.Glu268AspfsTer8) c.957del (p.Glu319AspfsTer8) c.909del (p.Glu303AspfsTer8) c.792del (p.Glu264AspfsTer8) c.774del (p.Glu258AspfsTer8) | |
| 3 | g.69956459A>C | CA353561697 | MITF | c.894A>C (p.Glu298Asp) c.891A>C (p.Glu297Asp) n.1116A>C c.867A>C (p.Glu289Asp) c.960A>C (p.Glu320Asp) c.639A>C (p.Glu213Asp) c.939A>C (p.Glu313Asp) c.942A>C (p.Glu314Asp) c.621A>C (p.Glu207Asp) c.912A>C (p.Glu304Asp) c.786A>C (p.Glu262Asp) c.*286A>C (n.*286A>C) c.453A>C (p.Glu151Asp) c.804A>C (p.Glu268Asp) c.957A>C (p.Glu319Asp) c.909A>C (p.Glu303Asp) c.792A>C (p.Glu264Asp) c.774A>C (p.Glu258Asp) | |
| 3 | g.69956459A>G | CA434306322 | MITF | c.894A>G (p.Glu298=) c.891A>G (p.Glu297=) n.1116A>G c.867A>G (p.Glu289=) c.960A>G (p.Glu320=) c.639A>G (p.Glu213=) c.939A>G (p.Glu313=) c.942A>G (p.Glu314=) c.621A>G (p.Glu207=) c.912A>G (p.Glu304=) c.786A>G (p.Glu262=) c.*286A>G (n.*286A>G) c.453A>G (p.Glu151=) c.804A>G (p.Glu268=) c.957A>G (p.Glu319=) c.909A>G (p.Glu303=) c.792A>G (p.Glu264=) c.774A>G (p.Glu258=) | |
| 3 | g.69956459A>T | CA353561698 | MITF | c.894A>T (p.Glu298Asp) c.891A>T (p.Glu297Asp) n.1116A>T c.867A>T (p.Glu289Asp) c.960A>T (p.Glu320Asp) c.639A>T (p.Glu213Asp) c.939A>T (p.Glu313Asp) c.942A>T (p.Glu314Asp) c.621A>T (p.Glu207Asp) c.912A>T (p.Glu304Asp) c.786A>T (p.Glu262Asp) c.*286A>T (n.*286A>T) c.453A>T (p.Glu151Asp) c.804A>T (p.Glu268Asp) c.957A>T (p.Glu319Asp) c.909A>T (p.Glu303Asp) c.792A>T (p.Glu264Asp) c.774A>T (p.Glu258Asp) | |
| 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) |