UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69879258C>A | CA353559021 | MITF | c.181C>A (p.Gln61Lys) c.178C>A (p.Gln60Lys) n.403C>A c.229C>A (p.Gln77Lys) c.226C>A (p.Gln76Lys) c.73C>A (p.Gln25Lys) n.384C>A | |
| 3 | g.69879258C>G | CA353559022 | MITF | c.181C>G (p.Gln61Glu) c.178C>G (p.Gln60Glu) n.403C>G c.229C>G (p.Gln77Glu) c.226C>G (p.Gln76Glu) c.73C>G (p.Gln25Glu) n.384C>G | dbSNP |
| 3 | g.69879258C>T | CA353559023 | MITF | c.181C>T (p.Gln61Ter) c.178C>T (p.Gln60Ter) n.403C>T c.229C>T (p.Gln77Ter) c.226C>T (p.Gln76Ter) c.73C>T (p.Gln25Ter) n.384C>T | dbSNP |
| 3 | g.69879259A= | CA1373433850 | MITF | c.182A= (p.Gln61=) c.179A= (p.Gln60=) n.404A= c.230A= (p.Gln77=) c.227A= (p.Gln76=) c.74A= (p.Gln25=) n.385A= | |
| 3 | g.69879259A>C | CA353559024 | MITF | c.182A>C (p.Gln61Pro) c.179A>C (p.Gln60Pro) n.404A>C c.230A>C (p.Gln77Pro) c.227A>C (p.Gln76Pro) c.74A>C (p.Gln25Pro) n.385A>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69879259A>G | CA353559025 | MITF | c.182A>G (p.Gln61Arg) c.179A>G (p.Gln60Arg) n.404A>G c.230A>G (p.Gln77Arg) c.227A>G (p.Gln76Arg) c.74A>G (p.Gln25Arg) n.385A>G | dbSNP |
| 3 | g.69879259A>T | CA2490266 | MITF | c.182A>T (p.Gln61Leu) c.179A>T (p.Gln60Leu) n.404A>T c.230A>T (p.Gln77Leu) c.227A>T (p.Gln76Leu) c.74A>T (p.Gln25Leu) n.385A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69879260G>A | CA434305754 | MITF | c.183G>A (p.Gln61=) c.180G>A (p.Gln60=) n.405G>A c.231G>A (p.Gln77=) c.228G>A (p.Gln76=) c.75G>A (p.Gln25=) n.386G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879260G>C | CA353559026 | MITF | c.183G>C (p.Gln61His) c.180G>C (p.Gln60His) n.405G>C c.231G>C (p.Gln77His) c.228G>C (p.Gln76His) c.75G>C (p.Gln25His) n.386G>C | |
| 3 | g.69879260G= | CA1373433852 | MITF | c.183G= (p.Gln61=) c.180G= (p.Gln60=) n.405G= c.231G= (p.Gln77=) c.228G= (p.Gln76=) c.75G= (p.Gln25=) n.386G= | |
| 3 | g.69879260G>T | CA353559027 | MITF | c.183G>T (p.Gln61His) c.180G>T (p.Gln60His) n.405G>T c.231G>T (p.Gln77His) c.228G>T (p.Gln76His) c.75G>T (p.Gln25His) n.386G>T | |
| 3 | g.69879261C>A | CA2490267 | MITF | c.184C>A (p.Gln62Lys) c.181C>A (p.Gln61Lys) n.406C>A c.232C>A (p.Gln78Lys) c.229C>A (p.Gln77Lys) c.76C>A (p.Gln26Lys) n.387C>A | dbSNP ExAC gnomAD v2 |
| 3 | g.69879261C= | CA1373433854 | MITF | c.184C= (p.Gln62=) c.181C= (p.Gln61=) n.406C= c.232C= (p.Gln78=) c.229C= (p.Gln77=) c.76C= (p.Gln26=) n.387C= | |
| 3 | g.69879261C>G | CA353559028 | MITF | c.184C>G (p.Gln62Glu) c.181C>G (p.Gln61Glu) n.406C>G c.232C>G (p.Gln78Glu) c.229C>G (p.Gln77Glu) c.76C>G (p.Gln26Glu) n.387C>G | dbSNP |
| 3 | g.69879261C>T | CA353559029 | MITF | c.184C>T (p.Gln62Ter) c.181C>T (p.Gln61Ter) n.406C>T c.232C>T (p.Gln78Ter) c.229C>T (p.Gln77Ter) c.76C>T (p.Gln26Ter) n.387C>T | dbSNP |
| 3 | g.69879262A>C | CA353559032 | MITF | c.185A>C (p.Gln62Pro) c.182A>C (p.Gln61Pro) n.407A>C c.233A>C (p.Gln78Pro) c.230A>C (p.Gln77Pro) c.77A>C (p.Gln26Pro) n.388A>C | |
| 3 | g.69879262A>G | CA353559030 | MITF | c.185A>G (p.Gln62Arg) c.182A>G (p.Gln61Arg) n.407A>G c.233A>G (p.Gln78Arg) c.230A>G (p.Gln77Arg) c.77A>G (p.Gln26Arg) n.388A>G | |
| 3 | g.69879262A>T | CA353559031 | MITF | c.185A>T (p.Gln62Leu) c.182A>T (p.Gln61Leu) n.407A>T c.233A>T (p.Gln78Leu) c.230A>T (p.Gln77Leu) c.77A>T (p.Gln26Leu) n.388A>T | dbSNP |
| 3 | g.69879263G>A | CA434305755 | MITF | c.186G>A (p.Gln62=) c.183G>A (p.Gln61=) n.408G>A c.234G>A (p.Gln78=) c.231G>A (p.Gln77=) c.78G>A (p.Gln26=) n.389G>A | dbSNP |
| 3 | g.69879263G>C | CA353559033 | MITF | c.186G>C (p.Gln62His) c.183G>C (p.Gln61His) n.408G>C c.234G>C (p.Gln78His) c.231G>C (p.Gln77His) c.78G>C (p.Gln26His) n.389G>C | dbSNP |
| 3 | g.69879263G>T | CA353559034 | MITF | c.186G>T (p.Gln62His) c.183G>T (p.Gln61His) n.408G>T c.234G>T (p.Gln78His) c.231G>T (p.Gln77His) c.78G>T (p.Gln26His) n.389G>T | |
| 3 | g.69879264A= | CA1373433856 | MITF | c.187A= (p.Lys63=) c.184A= (p.Lys62=) n.409A= c.235A= (p.Lys79=) c.232A= (p.Lys78=) c.79A= (p.Lys27=) n.390A= | |
| 3 | g.69879264A>C | CA2490268 | MITF | c.187A>C (p.Lys63Gln) c.184A>C (p.Lys62Gln) n.409A>C c.235A>C (p.Lys79Gln) c.232A>C (p.Lys78Gln) c.79A>C (p.Lys27Gln) n.390A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879264A>G | CA353559035 | MITF | c.187A>G (p.Lys63Glu) c.184A>G (p.Lys62Glu) n.409A>G c.235A>G (p.Lys79Glu) c.232A>G (p.Lys78Glu) c.79A>G (p.Lys27Glu) n.390A>G | dbSNP |
| 3 | g.69879264A>T | CA353559036 | MITF | c.187A>T (p.Lys63Ter) c.184A>T (p.Lys62Ter) n.409A>T c.235A>T (p.Lys79Ter) c.232A>T (p.Lys78Ter) c.79A>T (p.Lys27Ter) n.390A>T | |
| 3 | g.69879265A>C | CA353559037 | MITF | c.188A>C (p.Lys63Thr) c.185A>C (p.Lys62Thr) n.410A>C c.236A>C (p.Lys79Thr) c.233A>C (p.Lys78Thr) c.80A>C (p.Lys27Thr) n.391A>C | |
| 3 | g.69879265A>G | CA353559038 | MITF | c.188A>G (p.Lys63Arg) c.185A>G (p.Lys62Arg) n.410A>G c.236A>G (p.Lys79Arg) c.233A>G (p.Lys78Arg) c.80A>G (p.Lys27Arg) n.391A>G | dbSNP |
| 3 | g.69879265A>T | CA353559039 | MITF | c.188A>T (p.Lys63Met) c.185A>T (p.Lys62Met) n.410A>T c.236A>T (p.Lys79Met) c.233A>T (p.Lys78Met) c.80A>T (p.Lys27Met) n.391A>T | dbSNP |
| 3 | g.69879266G>A | CA434305757 | MITF | c.189G>A (p.Lys63=) c.186G>A (p.Lys62=) n.411G>A c.237G>A (p.Lys79=) c.234G>A (p.Lys78=) c.81G>A (p.Lys27=) n.392G>A | dbSNP |
| 3 | g.69879266G>C | CA353559040 | MITF | c.189G>C (p.Lys63Asn) c.186G>C (p.Lys62Asn) n.411G>C c.237G>C (p.Lys79Asn) c.234G>C (p.Lys78Asn) c.81G>C (p.Lys27Asn) n.392G>C | dbSNP |
| 3 | g.69879266G>T | CA353559041 | MITF | c.189G>T (p.Lys63Asn) c.186G>T (p.Lys62Asn) n.411G>T c.237G>T (p.Lys79Asn) c.234G>T (p.Lys78Asn) c.81G>T (p.Lys27Asn) n.392G>T | |
| 3 | g.69879267C>A | CA353559042 | MITF | c.190C>A (p.Leu64Met) c.187C>A (p.Leu63Met) n.412C>A c.238C>A (p.Leu80Met) c.235C>A (p.Leu79Met) c.82C>A (p.Leu28Met) n.393C>A | dbSNP |
| 3 | g.69879267C= | CA1373433858 | MITF | c.190C= (p.Leu64=) c.187C= (p.Leu63=) n.412C= c.238C= (p.Leu80=) c.235C= (p.Leu79=) c.82C= (p.Leu28=) n.393C= | |
| 3 | g.69879267C>G | CA2490269 | MITF | c.190C>G (p.Leu64Val) c.187C>G (p.Leu63Val) n.412C>G c.238C>G (p.Leu80Val) c.235C>G (p.Leu79Val) c.82C>G (p.Leu28Val) n.393C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69879267C>T | CA434305758 | MITF | c.190C>T (p.Leu64=) c.187C>T (p.Leu63=) n.412C>T c.238C>T (p.Leu80=) c.235C>T (p.Leu79=) c.82C>T (p.Leu28=) n.393C>T | dbSNP |
| 3 | g.69879268T>A | CA353559044 | MITF | c.191T>A (p.Leu64Gln) c.188T>A (p.Leu63Gln) n.413T>A c.239T>A (p.Leu80Gln) c.236T>A (p.Leu79Gln) c.83T>A (p.Leu28Gln) n.394T>A | dbSNP |
| 3 | g.69879268T>C | CA353559045 | MITF | c.191T>C (p.Leu64Pro) c.188T>C (p.Leu63Pro) n.413T>C c.239T>C (p.Leu80Pro) c.236T>C (p.Leu79Pro) c.83T>C (p.Leu28Pro) n.394T>C | dbSNP |
| 3 | g.69879268T>G | CA353559043 | MITF | c.191T>G (p.Leu64Arg) c.188T>G (p.Leu63Arg) n.413T>G c.239T>G (p.Leu80Arg) c.236T>G (p.Leu79Arg) c.83T>G (p.Leu28Arg) n.394T>G | |
| 3 | g.69879269G>A | CA434305761 | MITF | c.192G>A (p.Leu64=) c.189G>A (p.Leu63=) n.414G>A c.240G>A (p.Leu80=) c.237G>A (p.Leu79=) c.84G>A (p.Leu28=) n.395G>A | dbSNP |
| 3 | g.69879269G>C | CA434305759 | MITF | c.192G>C (p.Leu64=) c.189G>C (p.Leu63=) n.414G>C c.240G>C (p.Leu80=) c.237G>C (p.Leu79=) c.84G>C (p.Leu28=) n.395G>C | dbSNP |
| 3 | g.69879269G>T | CA434305760 | MITF | c.192G>T (p.Leu64=) c.189G>T (p.Leu63=) n.414G>T c.240G>T (p.Leu80=) c.237G>T (p.Leu79=) c.84G>T (p.Leu28=) n.395G>T | |
| 3 | g.69879269_69879273del | CA2666478866 | MITF | c.192_196del (p.Gln65GlyfsTer?) c.189_193del (p.Gln64GlyfsTer?) n.414_418del c.240_244del (p.Gln81GlyfsTer?) c.237_241del (p.Gln80GlyfsTer?) c.84_88del (p.Gln29GlyfsTer?) n.395_399del | gnomAD v4 |
| 3 | g.69879270C>A | CA353559047 | MITF | c.193C>A (p.Gln65Lys) c.190C>A (p.Gln64Lys) n.415C>A c.241C>A (p.Gln81Lys) c.238C>A (p.Gln80Lys) c.85C>A (p.Gln29Lys) n.396C>A | |
| 3 | g.69879270C>G | CA353559046 | MITF | c.193C>G (p.Gln65Glu) c.190C>G (p.Gln64Glu) n.415C>G c.241C>G (p.Gln81Glu) c.238C>G (p.Gln80Glu) c.85C>G (p.Gln29Glu) n.396C>G | dbSNP |
| 3 | g.69879270C>T | CA353559048 | MITF | c.193C>T (p.Gln65Ter) c.190C>T (p.Gln64Ter) n.415C>T c.241C>T (p.Gln81Ter) c.238C>T (p.Gln80Ter) c.85C>T (p.Gln29Ter) n.396C>T | dbSNP |
| 3 | g.69879271A>C | CA353559049 | MITF | c.194A>C (p.Gln65Pro) c.191A>C (p.Gln64Pro) n.416A>C c.242A>C (p.Gln81Pro) c.239A>C (p.Gln80Pro) c.86A>C (p.Gln29Pro) n.397A>C | |
| 3 | g.69879271A>G | CA353559050 | MITF | c.194A>G (p.Gln65Arg) c.191A>G (p.Gln64Arg) n.416A>G c.242A>G (p.Gln81Arg) c.239A>G (p.Gln80Arg) c.86A>G (p.Gln29Arg) n.397A>G | |
| 3 | g.69879271A>T | CA353559051 | MITF | c.194A>T (p.Gln65Leu) c.191A>T (p.Gln64Leu) n.416A>T c.242A>T (p.Gln81Leu) c.239A>T (p.Gln80Leu) c.86A>T (p.Gln29Leu) n.397A>T | dbSNP |
| 3 | g.69879272G>A | CA434305762 | MITF | c.195G>A (p.Gln65=) c.192G>A (p.Gln64=) n.417G>A c.243G>A (p.Gln81=) c.240G>A (p.Gln80=) c.87G>A (p.Gln29=) n.398G>A | dbSNP |
| 3 | g.69879272G>C | CA353559052 | MITF | c.195G>C (p.Gln65His) c.192G>C (p.Gln64His) n.417G>C c.243G>C (p.Gln81His) c.240G>C (p.Gln80His) c.87G>C (p.Gln29His) n.398G>C | dbSNP |
| 3 | g.69879272G>T | CA353559053 | MITF | c.195G>T (p.Gln65His) c.192G>T (p.Gln64His) n.417G>T c.243G>T (p.Gln81His) c.240G>T (p.Gln80His) c.87G>T (p.Gln29His) n.398G>T | dbSNP |
| 3 | g.69879273G>A | CA353559054 | MITF | c.196G>A (p.Ala66Thr) c.193G>A (p.Ala65Thr) n.418G>A c.244G>A (p.Ala82Thr) c.241G>A (p.Ala81Thr) c.88G>A (p.Ala30Thr) n.399G>A | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.69879273G>C | CA353559055 | MITF | c.196G>C (p.Ala66Pro) c.193G>C (p.Ala65Pro) n.418G>C c.244G>C (p.Ala82Pro) c.241G>C (p.Ala81Pro) c.88G>C (p.Ala30Pro) n.399G>C | dbSNP gnomAD v4 |
| 3 | g.69879273G>T | CA353559056 | MITF | c.196G>T (p.Ala66Ser) c.193G>T (p.Ala65Ser) n.418G>T c.244G>T (p.Ala82Ser) c.241G>T (p.Ala81Ser) c.88G>T (p.Ala30Ser) n.399G>T | |
| 3 | g.69879274C>A | CA2490270 | MITF | c.197C>A (p.Ala66Glu) c.194C>A (p.Ala65Glu) n.419C>A c.245C>A (p.Ala82Glu) c.242C>A (p.Ala81Glu) c.89C>A (p.Ala30Glu) n.400C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69879274C= | CA1373433860 | MITF | c.197C= (p.Ala66=) c.194C= (p.Ala65=) n.419C= c.245C= (p.Ala82=) c.242C= (p.Ala81=) c.89C= (p.Ala30=) n.400C= | |
| 3 | g.69879274C>G | CA353559057 | MITF | c.197C>G (p.Ala66Gly) c.194C>G (p.Ala65Gly) n.419C>G c.245C>G (p.Ala82Gly) c.242C>G (p.Ala81Gly) c.89C>G (p.Ala30Gly) n.400C>G | dbSNP |
| 3 | g.69879274C>T | CA353559058 | MITF | c.197C>T (p.Ala66Val) c.194C>T (p.Ala65Val) n.419C>T c.245C>T (p.Ala82Val) c.242C>T (p.Ala81Val) c.89C>T (p.Ala30Val) n.400C>T | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.69879275G>A | CA2490271 | MITF | c.198G>A (p.Ala66=) c.195G>A (p.Ala65=) n.420G>A c.246G>A (p.Ala82=) c.243G>A (p.Ala81=) c.90G>A (p.Ala30=) n.401G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879275G>C | CA434305764 | MITF | c.198G>C (p.Ala66=) c.195G>C (p.Ala65=) n.420G>C c.246G>C (p.Ala82=) c.243G>C (p.Ala81=) c.90G>C (p.Ala30=) n.401G>C | dbSNP |
| 3 | g.69879275G= | CA1373433863 | MITF | c.198G= (p.Ala66=) c.195G= (p.Ala65=) n.420G= c.246G= (p.Ala82=) c.243G= (p.Ala81=) c.90G= (p.Ala30=) n.401G= | |
| 3 | g.69879275G>T | CA434305765 | MITF | c.198G>T (p.Ala66=) c.195G>T (p.Ala65=) n.420G>T c.246G>T (p.Ala82=) c.243G>T (p.Ala81=) c.90G>T (p.Ala30=) n.401G>T | |
| 3 | g.69879276G>A | CA353559061 | MITF | c.199G>A (p.Ala67Thr) c.196G>A (p.Ala66Thr) n.421G>A c.247G>A (p.Ala83Thr) c.244G>A (p.Ala82Thr) c.91G>A (p.Ala31Thr) n.402G>A | |
| 3 | g.69879276G>C | CA353559059 | MITF | c.199G>C (p.Ala67Pro) c.196G>C (p.Ala66Pro) n.421G>C c.247G>C (p.Ala83Pro) c.244G>C (p.Ala82Pro) c.91G>C (p.Ala31Pro) n.402G>C | gnomAD v4 |
| 3 | g.69879276G= | CA1373433865 | MITF | c.199G= (p.Ala67=) c.196G= (p.Ala66=) n.421G= c.247G= (p.Ala83=) c.244G= (p.Ala82=) c.91G= (p.Ala31=) n.402G= | |
| 3 | g.69879276G>T | CA353559060 | MITF | c.199G>T (p.Ala67Ser) c.196G>T (p.Ala66Ser) n.421G>T c.247G>T (p.Ala83Ser) c.244G>T (p.Ala82Ser) c.91G>T (p.Ala31Ser) n.402G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879276_69879285del | CA2666478867 | MITF | c.199_208del (p.Ala67CysfsTer7) c.196_205del (p.Ala66CysfsTer7) n.421_430del c.247_256del (p.Ala83CysfsTer7) c.244_253del (p.Ala82CysfsTer7) c.91_100del (p.Ala31CysfsTer7) n.402_411del | gnomAD v4 |
| 3 | g.69879276_69879277insAA | CA2703197109 | MITF | c.199_200insAA (p.Ala67GlufsTer11) c.196_197insAA (p.Ala66GlufsTer11) n.421_422insAA c.247_248insAA (p.Ala83GlufsTer11) c.244_245insAA (p.Ala82GlufsTer11) c.91_92insAA (p.Ala31GlufsTer11) n.402_403insAA | dbSNP |
| 3 | g.69879277C>A | CA353559062 | MITF | c.200C>A (p.Ala67Asp) c.197C>A (p.Ala66Asp) n.422C>A c.248C>A (p.Ala83Asp) c.245C>A (p.Ala82Asp) c.92C>A (p.Ala31Asp) n.403C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879277C= | CA1373433866 | MITF | c.200C= (p.Ala67=) c.197C= (p.Ala66=) n.422C= c.248C= (p.Ala83=) c.245C= (p.Ala82=) c.92C= (p.Ala31=) n.403C= | |
| 3 | g.69879277C>G | CA353559063 | MITF | c.200C>G (p.Ala67Gly) c.197C>G (p.Ala66Gly) n.422C>G c.248C>G (p.Ala83Gly) c.245C>G (p.Ala82Gly) c.92C>G (p.Ala31Gly) n.403C>G | |
| 3 | g.69879277C>T | CA353559064 | MITF | c.200C>T (p.Ala67Val) c.197C>T (p.Ala66Val) n.422C>T c.248C>T (p.Ala83Val) c.245C>T (p.Ala82Val) c.92C>T (p.Ala31Val) n.403C>T | dbSNP |
| 3 | g.69879278C>A | CA434305767 | MITF | c.201C>A (p.Ala67=) c.198C>A (p.Ala66=) n.423C>A c.249C>A (p.Ala83=) c.246C>A (p.Ala82=) c.93C>A (p.Ala31=) n.404C>A | dbSNP gnomAD v4 |
| 3 | g.69879278C>G | CA434305768 | MITF | c.201C>G (p.Ala67=) c.198C>G (p.Ala66=) n.423C>G c.249C>G (p.Ala83=) c.246C>G (p.Ala82=) c.93C>G (p.Ala31=) n.404C>G | dbSNP |
| 3 | g.69879278C>T | CA434305766 | MITF | c.201C>T (p.Ala67=) c.198C>T (p.Ala66=) n.423C>T c.249C>T (p.Ala83=) c.246C>T (p.Ala82=) c.93C>T (p.Ala31=) n.404C>T | dbSNP gnomAD v4 |
| 3 | g.69879278_69879279insGACTCGGCGGGG | CA2740425276 | MITF | c.201_202insGACTCGGCGGGG (p.Ala67_Gln68insAspSerAlaGly) c.198_199insGACTCGGCGGGG (p.Ala66_Gln67insAspSerAlaGly) n.423_424insGACTCGGCGGGG c.249_250insGACTCGGCGGGG (p.Ala83_Gln84insAspSerAlaGly) c.246_247insGACTCGGCGGGG (p.Ala82_Gln83insAspSerAlaGly) c.93_94insGACTCGGCGGGG (p.Ala31_Gln32insAspSerAlaGly) n.404_405insGACTCGGCGGGG | |
| 3 | g.69879279C>A | CA353559065 | MITF | c.202C>A (p.Gln68Lys) c.199C>A (p.Gln67Lys) n.424C>A c.250C>A (p.Gln84Lys) c.247C>A (p.Gln83Lys) c.94C>A (p.Gln32Lys) n.405C>A | |
| 3 | g.69879279C>G | CA353559066 | MITF | c.202C>G (p.Gln68Glu) c.199C>G (p.Gln67Glu) n.424C>G c.250C>G (p.Gln84Glu) c.247C>G (p.Gln83Glu) c.94C>G (p.Gln32Glu) n.405C>G | |
| 3 | g.69879279C>T | CA353559067 | MITF | c.202C>T (p.Gln68Ter) c.199C>T (p.Gln67Ter) n.424C>T c.250C>T (p.Gln84Ter) c.247C>T (p.Gln83Ter) c.94C>T (p.Gln32Ter) n.405C>T | |
| 3 | g.69879280A= | CA1373433868 | MITF | c.203A= (p.Gln68=) c.200A= (p.Gln67=) n.425A= c.251A= (p.Gln84=) c.248A= (p.Gln83=) c.95A= (p.Gln32=) n.406A= | |
| 3 | g.69879280A>C | CA353559068 | MITF | c.203A>C (p.Gln68Pro) c.200A>C (p.Gln67Pro) n.425A>C c.251A>C (p.Gln84Pro) c.248A>C (p.Gln83Pro) c.95A>C (p.Gln32Pro) n.406A>C | dbSNP |
| 3 | g.69879280A>G | CA353559069 | MITF | c.203A>G (p.Gln68Arg) c.200A>G (p.Gln67Arg) n.425A>G c.251A>G (p.Gln84Arg) c.248A>G (p.Gln83Arg) c.95A>G (p.Gln32Arg) n.406A>G | |
| 3 | g.69879280A>T | CA353559070 | MITF | c.203A>T (p.Gln68Leu) c.200A>T (p.Gln67Leu) n.425A>T c.251A>T (p.Gln84Leu) c.248A>T (p.Gln83Leu) c.95A>T (p.Gln32Leu) n.406A>T | |
| 3 | g.69879280_69879281insACTGGCCGCGATCACCAAGTCGCAGGCGGTGATC | CA2740425277 | MITF | c.203_204insACTGGCCGCGATCACCAAGTCGCAGGCGGTGATC (p.Phe69LeufsTer?) c.200_201insACTGGCCGCGATCACCAAGTCGCAGGCGGTGATC (p.Phe68LeufsTer?) n.425_426insACTGGCCGCGATCACCAAGTCGCAGGCGGTGATC c.251_252insACTGGCCGCGATCACCAAGTCGCAGGCGGTGATC (p.Phe85LeufsTer?) c.248_249insACTGGCCGCGATCACCAAGTCGCAGGCGGTGATC (p.Phe84LeufsTer?) c.95_96insACTGGCCGCGATCACCAAGTCGCAGGCGGTGATC (p.Phe33LeufsTer?) n.406_407insACTGGCCGCGATCACCAAGTCGCAGGCGGTGATC | |
| 3 | g.69879281G>A | CA434305769 | MITF | c.204G>A (p.Gln68=) c.201G>A (p.Gln67=) n.426G>A c.252G>A (p.Gln84=) c.249G>A (p.Gln83=) c.96G>A (p.Gln32=) n.407G>A | |
| 3 | g.69879281G>C | CA353559071 | MITF | c.204G>C (p.Gln68His) c.201G>C (p.Gln67His) n.426G>C c.252G>C (p.Gln84His) c.249G>C (p.Gln83His) c.96G>C (p.Gln32His) n.407G>C | |
| 3 | g.69879281G>T | CA353559072 | MITF | c.204G>T (p.Gln68His) c.201G>T (p.Gln67His) n.426G>T c.252G>T (p.Gln84His) c.249G>T (p.Gln83His) c.96G>T (p.Gln32His) n.407G>T | |
| 3 | g.69879282T>A | CA353559074 | MITF | c.205T>A (p.Phe69Ile) c.202T>A (p.Phe68Ile) n.427T>A c.253T>A (p.Phe85Ile) c.250T>A (p.Phe84Ile) c.97T>A (p.Phe33Ile) n.408T>A | dbSNP |
| 3 | g.69879282T>C | CA353559075 | MITF | c.205T>C (p.Phe69Leu) c.202T>C (p.Phe68Leu) n.427T>C c.253T>C (p.Phe85Leu) c.250T>C (p.Phe84Leu) c.97T>C (p.Phe33Leu) n.408T>C | dbSNP |
| 3 | g.69879282T>G | CA353559073 | MITF | c.205T>G (p.Phe69Val) c.202T>G (p.Phe68Val) n.427T>G c.253T>G (p.Phe85Val) c.250T>G (p.Phe84Val) c.97T>G (p.Phe33Val) n.408T>G | dbSNP |
| 3 | g.69879282T= | CA1373433870 | MITF | c.205T= (p.Phe69=) c.202T= (p.Phe68=) n.427T= c.253T= (p.Phe85=) c.250T= (p.Phe84=) c.97T= (p.Phe33=) n.408T= | |
| 3 | g.69879283T>A | CA353559076 | MITF | c.206T>A (p.Phe69Tyr) c.203T>A (p.Phe68Tyr) n.428T>A c.254T>A (p.Phe85Tyr) c.251T>A (p.Phe84Tyr) c.98T>A (p.Phe33Tyr) n.409T>A | dbSNP |
| 3 | g.69879283T>C | CA353559077 | MITF | c.206T>C (p.Phe69Ser) c.203T>C (p.Phe68Ser) n.428T>C c.254T>C (p.Phe85Ser) c.251T>C (p.Phe84Ser) c.98T>C (p.Phe33Ser) n.409T>C | |
| 3 | g.69879283T>G | CA353559078 | MITF | c.206T>G (p.Phe69Cys) c.203T>G (p.Phe68Cys) n.428T>G c.254T>G (p.Phe85Cys) c.251T>G (p.Phe84Cys) c.98T>G (p.Phe33Cys) n.409T>G | dbSNP |
| 3 | g.69879284C>A | CA353559079 | MITF | c.207C>A (p.Phe69Leu) c.204C>A (p.Phe68Leu) n.429C>A c.255C>A (p.Phe85Leu) c.252C>A (p.Phe84Leu) c.99C>A (p.Phe33Leu) n.410C>A | dbSNP |
| 3 | g.69879284C>G | CA353559080 | MITF | c.207C>G (p.Phe69Leu) c.204C>G (p.Phe68Leu) n.429C>G c.255C>G (p.Phe85Leu) c.252C>G (p.Phe84Leu) c.99C>G (p.Phe33Leu) n.410C>G | dbSNP |
| 3 | g.69879284C>T | CA434305770 | MITF | c.207C>T (p.Phe69=) c.204C>T (p.Phe68=) n.429C>T c.255C>T (p.Phe85=) c.252C>T (p.Phe84=) c.99C>T (p.Phe33=) n.410C>T | dbSNP |
| 3 | g.69879285A= | CA1373433872 | MITF | c.208A= (p.Met70=) c.205A= (p.Met69=) n.430A= c.256A= (p.Met86=) c.253A= (p.Met85=) c.100A= (p.Met34=) n.411A= | |
| 3 | g.69879285A>C | CA353559083 | MITF | c.208A>C (p.Met70Leu) c.205A>C (p.Met69Leu) n.430A>C c.256A>C (p.Met86Leu) c.253A>C (p.Met85Leu) c.100A>C (p.Met34Leu) n.411A>C | |
| 3 | g.69879285A>G | CA353559082 | MITF | c.208A>G (p.Met70Val) c.205A>G (p.Met69Val) n.430A>G c.256A>G (p.Met86Val) c.253A>G (p.Met85Val) c.100A>G (p.Met34Val) n.411A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879285A>T | CA353559081 | MITF | c.208A>T (p.Met70Leu) c.205A>T (p.Met69Leu) n.430A>T c.256A>T (p.Met86Leu) c.253A>T (p.Met85Leu) c.100A>T (p.Met34Leu) n.411A>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69879286T>A | CA353559084 | MITF | c.209T>A (p.Met70Lys) c.206T>A (p.Met69Lys) n.431T>A c.257T>A (p.Met86Lys) c.254T>A (p.Met85Lys) c.101T>A (p.Met34Lys) n.412T>A | dbSNP |
| 3 | g.69879286T>C | CA2490272 | MITF | c.209T>C (p.Met70Thr) c.206T>C (p.Met69Thr) n.431T>C c.257T>C (p.Met86Thr) c.254T>C (p.Met85Thr) c.101T>C (p.Met34Thr) n.412T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69879286T>G | CA353559085 | MITF | c.209T>G (p.Met70Arg) c.206T>G (p.Met69Arg) n.431T>G c.257T>G (p.Met86Arg) c.254T>G (p.Met85Arg) c.101T>G (p.Met34Arg) n.412T>G | |
| 3 | g.69879286T= | CA1373433874 | MITF | c.209T= (p.Met70=) c.206T= (p.Met69=) n.431T= c.257T= (p.Met86=) c.254T= (p.Met85=) c.101T= (p.Met34=) n.412T= | |
| 3 | g.69879287G>A | CA353559086 | MITF | c.210G>A (p.Met70Ile) c.207G>A (p.Met69Ile) n.432G>A c.258G>A (p.Met86Ile) c.255G>A (p.Met85Ile) c.102G>A (p.Met34Ile) n.413G>A | dbSNP |
| 3 | g.69879287G>C | CA353559087 | MITF | c.210G>C (p.Met70Ile) c.207G>C (p.Met69Ile) n.432G>C c.258G>C (p.Met86Ile) c.255G>C (p.Met85Ile) c.102G>C (p.Met34Ile) n.413G>C | dbSNP |
| 3 | g.69879287G>T | CA353559088 | MITF | c.210G>T (p.Met70Ile) c.207G>T (p.Met69Ile) n.432G>T c.258G>T (p.Met86Ile) c.255G>T (p.Met85Ile) c.102G>T (p.Met34Ile) n.413G>T | dbSNP |
| 3 | g.69879288C>A | CA353559089 | MITF | c.211C>A (p.Gln71Lys) c.208C>A (p.Gln70Lys) n.433C>A c.259C>A (p.Gln87Lys) c.256C>A (p.Gln86Lys) c.103C>A (p.Gln35Lys) n.414C>A | dbSNP |
| 3 | g.69879288C>G | CA353559091 | MITF | c.211C>G (p.Gln71Glu) c.208C>G (p.Gln70Glu) n.433C>G c.259C>G (p.Gln87Glu) c.256C>G (p.Gln86Glu) c.103C>G (p.Gln35Glu) n.414C>G | dbSNP |
| 3 | g.69879288C>T | CA353559090 | MITF | c.211C>T (p.Gln71Ter) c.208C>T (p.Gln70Ter) n.433C>T c.259C>T (p.Gln87Ter) c.256C>T (p.Gln86Ter) c.103C>T (p.Gln35Ter) n.414C>T | dbSNP |
| 3 | g.69879289A>C | CA353559092 | MITF | c.212A>C (p.Gln71Pro) c.209A>C (p.Gln70Pro) n.434A>C c.260A>C (p.Gln87Pro) c.257A>C (p.Gln86Pro) c.104A>C (p.Gln35Pro) n.415A>C | dbSNP |
| 3 | g.69879289A>G | CA353559093 | MITF | c.212A>G (p.Gln71Arg) c.209A>G (p.Gln70Arg) n.434A>G c.260A>G (p.Gln87Arg) c.257A>G (p.Gln86Arg) c.104A>G (p.Gln35Arg) n.415A>G | |
| 3 | g.69879289A>T | CA353559094 | MITF | c.212A>T (p.Gln71Leu) c.209A>T (p.Gln70Leu) n.434A>T c.260A>T (p.Gln87Leu) c.257A>T (p.Gln86Leu) c.104A>T (p.Gln35Leu) n.415A>T | dbSNP |
| 3 | g.69879290A= | CA1373433876 | MITF | c.213A= (p.Gln71=) c.210A= (p.Gln70=) n.435A= c.261A= (p.Gln87=) c.258A= (p.Gln86=) c.105A= (p.Gln35=) n.416A= | |
| 3 | g.69879290A>C | CA353559095 | MITF | c.213A>C (p.Gln71His) c.210A>C (p.Gln70His) n.435A>C c.261A>C (p.Gln87His) c.258A>C (p.Gln86His) c.105A>C (p.Gln35His) n.416A>C | dbSNP |
| 3 | g.69879290A>G | CA434305771 | MITF | c.213A>G (p.Gln71=) c.210A>G (p.Gln70=) n.435A>G c.261A>G (p.Gln87=) c.258A>G (p.Gln86=) c.105A>G (p.Gln35=) n.416A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69879290A>T | CA353559096 | MITF | c.213A>T (p.Gln71His) c.210A>T (p.Gln70His) n.435A>T c.261A>T (p.Gln87His) c.258A>T (p.Gln86His) c.105A>T (p.Gln35His) n.416A>T | dbSNP |
| 3 | g.69879290_69879291delinsAC | CA1373433878 | MITF | c.213_214delinsAC (p.Gln71=) c.210_211delinsAC (p.Gln70=) n.435_436delinsAC c.261_262delinsAC (p.Gln87=) c.258_259delinsAC (p.Gln86=) c.105_106delinsAC (p.Gln35=) n.416_417delinsAC | |
| 3 | g.69879291del | CA544006092 | MITF | c.214del (p.Gln72ArgfsTer5) c.211del (p.Gln71ArgfsTer5) n.436del c.262del (p.Gln88ArgfsTer5) c.259del (p.Gln87ArgfsTer5) c.106del (p.Gln36ArgfsTer5) n.417del | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69879291C>A | CA353559097 | MITF | c.214C>A (p.Gln72Lys) c.211C>A (p.Gln71Lys) n.436C>A c.262C>A (p.Gln88Lys) c.259C>A (p.Gln87Lys) c.106C>A (p.Gln36Lys) n.417C>A | dbSNP |
| 3 | g.69879291C>G | CA353559098 | MITF | c.214C>G (p.Gln72Glu) c.211C>G (p.Gln71Glu) n.436C>G c.262C>G (p.Gln88Glu) c.259C>G (p.Gln87Glu) c.106C>G (p.Gln36Glu) n.417C>G | dbSNP |
| 3 | g.69879291C>T | CA353559099 | MITF | c.214C>T (p.Gln72Ter) c.211C>T (p.Gln71Ter) n.436C>T c.262C>T (p.Gln88Ter) c.259C>T (p.Gln87Ter) c.106C>T (p.Gln36Ter) n.417C>T | dbSNP |
| 3 | g.69879292A>C | CA353559100 | MITF | c.215A>C (p.Gln72Pro) c.212A>C (p.Gln71Pro) n.437A>C c.263A>C (p.Gln88Pro) c.260A>C (p.Gln87Pro) c.107A>C (p.Gln36Pro) n.418A>C | |
| 3 | g.69879292A>G | CA353559101 | MITF | c.215A>G (p.Gln72Arg) c.212A>G (p.Gln71Arg) n.437A>G c.263A>G (p.Gln88Arg) c.260A>G (p.Gln87Arg) c.107A>G (p.Gln36Arg) n.418A>G | dbSNP |
| 3 | g.69879292A>T | CA353559102 | MITF | c.215A>T (p.Gln72Leu) c.212A>T (p.Gln71Leu) n.437A>T c.263A>T (p.Gln88Leu) c.260A>T (p.Gln87Leu) c.107A>T (p.Gln36Leu) n.418A>T | dbSNP |
| 3 | g.69879293G>A | CA434305772 | MITF | c.216G>A (p.Gln72=) c.213G>A (p.Gln71=) n.438G>A c.264G>A (p.Gln88=) c.261G>A (p.Gln87=) c.108G>A (p.Gln36=) n.419G>A | dbSNP |
| 3 | g.69879293G>C | CA353559103 | MITF | c.216G>C (p.Gln72His) c.213G>C (p.Gln71His) n.438G>C c.264G>C (p.Gln88His) c.261G>C (p.Gln87His) c.108G>C (p.Gln36His) n.419G>C | dbSNP |
| 3 | g.69879293G>T | CA353559104 | MITF | c.216G>T (p.Gln72His) c.213G>T (p.Gln71His) n.438G>T c.264G>T (p.Gln88His) c.261G>T (p.Gln87His) c.108G>T (p.Gln36His) n.419G>T | dbSNP |
| 3 | g.69879294A>C | CA434305773 | MITF | c.217A>C (p.Arg73=) c.214A>C (p.Arg72=) n.439A>C c.265A>C (p.Arg89=) c.262A>C (p.Arg88=) c.109A>C (p.Arg37=) n.420A>C | |
| 3 | g.69879294A>G | CA353559105 | MITF | c.217A>G (p.Arg73Gly) c.214A>G (p.Arg72Gly) n.439A>G c.265A>G (p.Arg89Gly) c.262A>G (p.Arg88Gly) c.109A>G (p.Arg37Gly) n.420A>G | dbSNP gnomAD v4 |
| 3 | g.69879294A>T | CA353559106 | MITF | c.217A>T (p.Arg73Ter) c.214A>T (p.Arg72Ter) n.439A>T c.265A>T (p.Arg89Ter) c.262A>T (p.Arg88Ter) c.109A>T (p.Arg37Ter) n.420A>T | dbSNP |
| 3 | g.69879295G>A | CA353559107 | MITF | c.218G>A (p.Arg73Lys) c.215G>A (p.Arg72Lys) n.440G>A c.266G>A (p.Arg89Lys) c.263G>A (p.Arg88Lys) c.110G>A (p.Arg37Lys) n.421G>A | dbSNP |
| 3 | g.69879295G>C | CA353559109 | MITF | c.218G>C (p.Arg73Thr) c.215G>C (p.Arg72Thr) n.440G>C c.266G>C (p.Arg89Thr) c.263G>C (p.Arg88Thr) c.110G>C (p.Arg37Thr) n.421G>C | dbSNP |
| 3 | g.69879295G>T | CA353559108 | MITF | c.218G>T (p.Arg73Ile) c.215G>T (p.Arg72Ile) n.440G>T c.266G>T (p.Arg89Ile) c.263G>T (p.Arg88Ile) c.110G>T (p.Arg37Ile) n.421G>T | dbSNP gnomAD v4 |
| 3 | g.69879296A>C | CA353559110 | MITF | c.219A>C (p.Arg73Ser) c.216A>C (p.Arg72Ser) n.441A>C c.267A>C (p.Arg89Ser) c.264A>C (p.Arg88Ser) c.111A>C (p.Arg37Ser) n.422A>C | |
| 3 | g.69879296A>G | CA434305775 | MITF | c.219A>G (p.Arg73=) c.216A>G (p.Arg72=) n.441A>G c.267A>G (p.Arg89=) c.264A>G (p.Arg88=) c.111A>G (p.Arg37=) n.422A>G | |
| 3 | g.69879296A>T | CA353559111 | MITF | c.219A>T (p.Arg73Ser) c.216A>T (p.Arg72Ser) n.441A>T c.267A>T (p.Arg89Ser) c.264A>T (p.Arg88Ser) c.111A>T (p.Arg37Ser) n.422A>T | dbSNP |
| 3 | g.69879297G>A | CA353559112 | MITF | c.220G>A (p.Val74Met) c.217G>A (p.Val73Met) n.442G>A c.268G>A (p.Val90Met) c.265G>A (p.Val89Met) c.112G>A (p.Val38Met) n.423G>A | dbSNP |
| 3 | g.69879297G>C | CA353559113 | MITF | c.220G>C (p.Val74Leu) c.217G>C (p.Val73Leu) n.442G>C c.268G>C (p.Val90Leu) c.265G>C (p.Val89Leu) c.112G>C (p.Val38Leu) n.423G>C | dbSNP |
| 3 | g.69879297G= | CA1373433881 | MITF | c.220G= (p.Val74=) c.217G= (p.Val73=) n.442G= c.268G= (p.Val90=) c.265G= (p.Val89=) c.112G= (p.Val38=) n.423G= | |
| 3 | g.69879297G>T | CA353559114 | MITF | c.220G>T (p.Val74Leu) c.217G>T (p.Val73Leu) n.442G>T c.268G>T (p.Val90Leu) c.265G>T (p.Val89Leu) c.112G>T (p.Val38Leu) n.423G>T | |
| 3 | g.69879298T>A | CA353559115 | MITF | c.221T>A (p.Val74Glu) c.218T>A (p.Val73Glu) n.443T>A c.269T>A (p.Val90Glu) c.266T>A (p.Val89Glu) c.113T>A (p.Val38Glu) n.424T>A | dbSNP |
| 3 | g.69879298T>C | CA353559116 | MITF | c.221T>C (p.Val74Ala) c.218T>C (p.Val73Ala) n.443T>C c.269T>C (p.Val90Ala) c.266T>C (p.Val89Ala) c.113T>C (p.Val38Ala) n.424T>C | |
| 3 | g.69879298T>G | CA353559117 | MITF | c.221T>G (p.Val74Gly) c.218T>G (p.Val73Gly) n.443T>G c.269T>G (p.Val90Gly) c.266T>G (p.Val89Gly) c.113T>G (p.Val38Gly) n.424T>G | dbSNP |
| 3 | g.69879298T= | CA1373433882 | MITF | c.221T= (p.Val74=) c.218T= (p.Val73=) n.443T= c.269T= (p.Val90=) c.266T= (p.Val89=) c.113T= (p.Val38=) n.424T= | |
| 3 | g.69879299G>A | CA434305776 | MITF | c.222G>A (p.Val74=) c.219G>A (p.Val73=) n.444G>A c.270G>A (p.Val90=) c.267G>A (p.Val89=) c.114G>A (p.Val38=) n.425G>A | gnomAD v4 |
| 3 | g.69879299G>C | CA434305777 | MITF | c.222G>C (p.Val74=) c.219G>C (p.Val73=) n.444G>C c.270G>C (p.Val90=) c.267G>C (p.Val89=) c.114G>C (p.Val38=) n.425G>C | |
| 3 | g.69879299G>T | CA434305778 | MITF | c.222G>T (p.Val74=) c.219G>T (p.Val73=) n.444G>T c.270G>T (p.Val90=) c.267G>T (p.Val89=) c.114G>T (p.Val38=) n.425G>T | dbSNP |
| 3 | g.69879300C>A | CA2490273 | MITF | c.223C>A (p.Pro75Thr) c.220C>A (p.Pro74Thr) n.445C>A c.271C>A (p.Pro91Thr) c.268C>A (p.Pro90Thr) c.115C>A (p.Pro39Thr) n.426C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69879300C= | CA1373433884 | MITF | c.223C= (p.Pro75=) c.220C= (p.Pro74=) n.445C= c.271C= (p.Pro91=) c.268C= (p.Pro90=) c.115C= (p.Pro39=) n.426C= | |
| 3 | g.69879300C>G | CA353559118 | MITF | c.223C>G (p.Pro75Ala) c.220C>G (p.Pro74Ala) n.445C>G c.271C>G (p.Pro91Ala) c.268C>G (p.Pro90Ala) c.115C>G (p.Pro39Ala) n.426C>G | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.69879300C>T | CA353559119 | MITF | c.223C>T (p.Pro75Ser) c.220C>T (p.Pro74Ser) n.445C>T c.271C>T (p.Pro91Ser) c.268C>T (p.Pro90Ser) c.115C>T (p.Pro39Ser) n.426C>T | dbSNP |
| 3 | g.69879301C>A | CA353559121 | MITF | c.224C>A (p.Pro75His) c.221C>A (p.Pro74His) n.446C>A c.272C>A (p.Pro91His) c.269C>A (p.Pro90His) c.116C>A (p.Pro39His) n.427C>A | dbSNP |
| 3 | g.69879301C= | CA1373433885 | MITF | c.224C= (p.Pro75=) c.221C= (p.Pro74=) n.446C= c.272C= (p.Pro91=) c.269C= (p.Pro90=) c.116C= (p.Pro39=) n.427C= | |
| 3 | g.69879301C>G | CA353559120 | MITF | c.224C>G (p.Pro75Arg) c.221C>G (p.Pro74Arg) n.446C>G c.272C>G (p.Pro91Arg) c.269C>G (p.Pro90Arg) c.116C>G (p.Pro39Arg) n.427C>G | dbSNP |
| 3 | g.69879301C>T | CA76994006 | MITF | c.224C>T (p.Pro75Leu) c.221C>T (p.Pro74Leu) n.446C>T c.272C>T (p.Pro91Leu) c.269C>T (p.Pro90Leu) c.116C>T (p.Pro39Leu) n.427C>T | dbSNP gnomAD v4 |
| 3 | g.69879302C>A | CA434305779 | MITF | c.225C>A (p.Pro75=) c.222C>A (p.Pro74=) n.447C>A c.273C>A (p.Pro91=) c.270C>A (p.Pro90=) c.117C>A (p.Pro39=) n.428C>A | |
| 3 | g.69879302C= | CA1373433888 | MITF | c.225C= (p.Pro75=) c.222C= (p.Pro74=) n.447C= c.273C= (p.Pro91=) c.270C= (p.Pro90=) c.117C= (p.Pro39=) n.428C= | |
| 3 | g.69879302C>G | CA434305780 | MITF | c.225C>G (p.Pro75=) c.222C>G (p.Pro74=) n.447C>G c.273C>G (p.Pro91=) c.270C>G (p.Pro90=) c.117C>G (p.Pro39=) n.428C>G | |
| 3 | g.69879302C>T | CA2490274 | MITF | c.225C>T (p.Pro75=) c.222C>T (p.Pro74=) n.447C>T c.273C>T (p.Pro91=) c.270C>T (p.Pro90=) c.117C>T (p.Pro39=) n.428C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879303G>A | CA2490275 | MITF | c.226G>A (p.Val76Met) c.223G>A (p.Val75Met) n.448G>A c.274G>A (p.Val92Met) c.271G>A (p.Val91Met) c.118G>A (p.Val40Met) n.429G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879303G>C | CA353559122 | MITF | c.226G>C (p.Val76Leu) c.223G>C (p.Val75Leu) n.448G>C c.274G>C (p.Val92Leu) c.271G>C (p.Val91Leu) c.118G>C (p.Val40Leu) n.429G>C | dbSNP |
| 3 | g.69879303G= | CA1373433891 | MITF | c.226G= (p.Val76=) c.223G= (p.Val75=) n.448G= c.274G= (p.Val92=) c.271G= (p.Val91=) c.118G= (p.Val40=) n.429G= | |
| 3 | g.69879303G>T | CA2490276 | MITF | c.226G>T (p.Val76Leu) c.223G>T (p.Val75Leu) n.448G>T c.274G>T (p.Val92Leu) c.271G>T (p.Val91Leu) c.118G>T (p.Val40Leu) n.429G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879303_69879314dup | CA1373433890 | MITF | c.226_237dup (p.Thr79_Pro80insValSerGlnThr) c.223_234dup (p.Thr78_Pro79insValSerGlnThr) n.448_459dup c.274_285dup (p.Thr95_Pro96insValSerGlnThr) c.271_282dup (p.Thr94_Pro95insValSerGlnThr) c.118_129dup (p.Thr43_Pro44insValSerGlnThr) n.429_440dup | dbSNP |
| 3 | g.69879304T>A | CA353559123 | MITF | c.227T>A (p.Val76Glu) c.224T>A (p.Val75Glu) n.449T>A c.275T>A (p.Val92Glu) c.272T>A (p.Val91Glu) c.119T>A (p.Val40Glu) n.430T>A | dbSNP |
| 3 | g.69879304T>C | CA353559124 | MITF | c.227T>C (p.Val76Ala) c.224T>C (p.Val75Ala) n.449T>C c.275T>C (p.Val92Ala) c.272T>C (p.Val91Ala) c.119T>C (p.Val40Ala) n.430T>C | gnomAD v4 |
| 3 | g.69879304T>G | CA2490277 | MITF | c.227T>G (p.Val76Gly) c.224T>G (p.Val75Gly) n.449T>G c.275T>G (p.Val92Gly) c.272T>G (p.Val91Gly) c.119T>G (p.Val40Gly) n.430T>G | dbSNP ExAC |
| 3 | g.69879304T= | CA1373433892 | MITF | c.227T= (p.Val76=) c.224T= (p.Val75=) n.449T= c.275T= (p.Val92=) c.272T= (p.Val91=) c.119T= (p.Val40=) n.430T= | |
| 3 | g.69879305G>A | CA2490278 | MITF | c.228G>A (p.Val76=) c.225G>A (p.Val75=) n.450G>A c.276G>A (p.Val92=) c.273G>A (p.Val91=) c.120G>A (p.Val40=) n.431G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69879305G>C | CA434305781 | MITF | c.228G>C (p.Val76=) c.225G>C (p.Val75=) n.450G>C c.276G>C (p.Val92=) c.273G>C (p.Val91=) c.120G>C (p.Val40=) n.431G>C | dbSNP gnomAD v4 |
| 3 | g.69879305G= | CA1373433894 | MITF | c.228G= (p.Val76=) c.225G= (p.Val75=) n.450G= c.276G= (p.Val92=) c.273G= (p.Val91=) c.120G= (p.Val40=) n.431G= | |
| 3 | g.69879305G>T | CA434305782 | MITF | c.228G>T (p.Val76=) c.225G>T (p.Val75=) n.450G>T c.276G>T (p.Val92=) c.273G>T (p.Val91=) c.120G>T (p.Val40=) n.431G>T | |
| 3 | g.69879306A= | CA1373433896 | MITF | c.229A= (p.Ser77=) c.226A= (p.Ser76=) n.451A= c.277A= (p.Ser93=) c.274A= (p.Ser92=) c.121A= (p.Ser41=) n.432A= | |
| 3 | g.69879306A>C | CA353559125 | MITF | c.229A>C (p.Ser77Arg) c.226A>C (p.Ser76Arg) n.451A>C c.277A>C (p.Ser93Arg) c.274A>C (p.Ser92Arg) c.121A>C (p.Ser41Arg) n.432A>C | |
| 3 | g.69879306A>G | CA2490279 | MITF | c.229A>G (p.Ser77Gly) c.226A>G (p.Ser76Gly) n.451A>G c.277A>G (p.Ser93Gly) c.274A>G (p.Ser92Gly) c.121A>G (p.Ser41Gly) n.432A>G | dbSNP ExAC |
| 3 | g.69879306A>T | CA353559126 | MITF | c.229A>T (p.Ser77Cys) c.226A>T (p.Ser76Cys) n.451A>T c.277A>T (p.Ser93Cys) c.274A>T (p.Ser92Cys) c.121A>T (p.Ser41Cys) n.432A>T | dbSNP |
| 3 | g.69879307G>A | CA353559128 | MITF | c.230G>A (p.Ser77Asn) c.227G>A (p.Ser76Asn) n.452G>A c.278G>A (p.Ser93Asn) c.275G>A (p.Ser92Asn) c.122G>A (p.Ser41Asn) n.433G>A | dbSNP gnomAD v4 |
| 3 | g.69879307G>C | CA353559129 | MITF | c.230G>C (p.Ser77Thr) c.227G>C (p.Ser76Thr) n.452G>C c.278G>C (p.Ser93Thr) c.275G>C (p.Ser92Thr) c.122G>C (p.Ser41Thr) n.433G>C | dbSNP |
| 3 | g.69879307G>T | CA353559127 | MITF | c.230G>T (p.Ser77Ile) c.227G>T (p.Ser76Ile) n.452G>T c.278G>T (p.Ser93Ile) c.275G>T (p.Ser92Ile) c.122G>T (p.Ser41Ile) n.433G>T | |
| 3 | g.69879308T>A | CA353559130 | MITF | c.231T>A (p.Ser77Arg) c.228T>A (p.Ser76Arg) n.453T>A c.279T>A (p.Ser93Arg) c.276T>A (p.Ser92Arg) c.123T>A (p.Ser41Arg) n.434T>A | dbSNP |
| 3 | g.69879308T>C | CA2490280 | MITF | c.231T>C (p.Ser77=) c.228T>C (p.Ser76=) n.453T>C c.279T>C (p.Ser93=) c.276T>C (p.Ser92=) c.123T>C (p.Ser41=) n.434T>C | dbSNP ExAC |
| 3 | g.69879308T>G | CA353559131 | MITF | c.231T>G (p.Ser77Arg) c.228T>G (p.Ser76Arg) n.453T>G c.279T>G (p.Ser93Arg) c.276T>G (p.Ser92Arg) c.123T>G (p.Ser41Arg) n.434T>G | dbSNP |
| 3 | g.69879308T= | CA1373433898 | MITF | c.231T= (p.Ser77=) c.228T= (p.Ser76=) n.453T= c.279T= (p.Ser93=) c.276T= (p.Ser92=) c.123T= (p.Ser41=) n.434T= | |
| 3 | g.69879309C>A | CA2490281 | MITF | c.232C>A (p.Gln78Lys) c.229C>A (p.Gln77Lys) n.454C>A c.280C>A (p.Gln94Lys) c.277C>A (p.Gln93Lys) c.124C>A (p.Gln42Lys) n.435C>A | dbSNP ExAC gnomAD v4 |
| 3 | g.69879309C= | CA1373433900 | MITF | c.232C= (p.Gln78=) c.229C= (p.Gln77=) n.454C= c.280C= (p.Gln94=) c.277C= (p.Gln93=) c.124C= (p.Gln42=) n.435C= | |
| 3 | g.69879309C>G | CA353559132 | MITF | c.232C>G (p.Gln78Glu) c.229C>G (p.Gln77Glu) n.454C>G c.280C>G (p.Gln94Glu) c.277C>G (p.Gln93Glu) c.124C>G (p.Gln42Glu) n.435C>G | dbSNP gnomAD v4 |
| 3 | g.69879309C>T | CA353559133 | MITF | c.232C>T (p.Gln78Ter) c.229C>T (p.Gln77Ter) n.454C>T c.280C>T (p.Gln94Ter) c.277C>T (p.Gln93Ter) c.124C>T (p.Gln42Ter) n.435C>T | dbSNP |
| 3 | g.69879310A>C | CA353559134 | MITF | c.233A>C (p.Gln78Pro) c.230A>C (p.Gln77Pro) n.455A>C c.281A>C (p.Gln94Pro) c.278A>C (p.Gln93Pro) c.125A>C (p.Gln42Pro) n.436A>C | |
| 3 | g.69879310A>G | CA353559135 | MITF | c.233A>G (p.Gln78Arg) c.230A>G (p.Gln77Arg) n.455A>G c.281A>G (p.Gln94Arg) c.278A>G (p.Gln93Arg) c.125A>G (p.Gln42Arg) n.436A>G | dbSNP |
| 3 | g.69879310A>T | CA353559136 | MITF | c.233A>T (p.Gln78Leu) c.230A>T (p.Gln77Leu) n.455A>T c.281A>T (p.Gln94Leu) c.278A>T (p.Gln93Leu) c.125A>T (p.Gln42Leu) n.436A>T | dbSNP |
| 3 | g.69879311G>A | CA2490283 | MITF | c.234G>A (p.Gln78=) c.231G>A (p.Gln77=) n.456G>A c.282G>A (p.Gln94=) c.279G>A (p.Gln93=) c.126G>A (p.Gln42=) n.437G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69879311G>C | CA2490282 | MITF | c.234G>C (p.Gln78His) c.231G>C (p.Gln77His) n.456G>C c.282G>C (p.Gln94His) c.279G>C (p.Gln93His) c.126G>C (p.Gln42His) n.437G>C | dbSNP ExAC gnomAD v2 |
| 3 | g.69879311G= | CA1373433902 | MITF | c.234G= (p.Gln78=) c.231G= (p.Gln77=) n.456G= c.282G= (p.Gln94=) c.279G= (p.Gln93=) c.126G= (p.Gln42=) n.437G= | |
| 3 | g.69879311G>T | CA353559137 | MITF | c.234G>T (p.Gln78His) c.231G>T (p.Gln77His) n.456G>T c.282G>T (p.Gln94His) c.279G>T (p.Gln93His) c.126G>T (p.Gln42His) n.437G>T | |
| 3 | g.69879312A= | CA1373433905 | MITF | c.235A= (p.Thr79=) c.232A= (p.Thr78=) n.457A= c.283A= (p.Thr95=) c.280A= (p.Thr94=) c.127A= (p.Thr43=) n.438A= | |
| 3 | g.69879312A>C | CA2490284 | MITF | c.235A>C (p.Thr79Pro) c.232A>C (p.Thr78Pro) n.457A>C c.283A>C (p.Thr95Pro) c.280A>C (p.Thr94Pro) c.127A>C (p.Thr43Pro) n.438A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69879312A>G | CA353559139 | MITF | c.235A>G (p.Thr79Ala) c.232A>G (p.Thr78Ala) n.457A>G c.283A>G (p.Thr95Ala) c.280A>G (p.Thr94Ala) c.127A>G (p.Thr43Ala) n.438A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69879312A>T | CA353559138 | MITF | c.235A>T (p.Thr79Ser) c.232A>T (p.Thr78Ser) n.457A>T c.283A>T (p.Thr95Ser) c.280A>T (p.Thr94Ser) c.127A>T (p.Thr43Ser) n.438A>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69879313C>A | CA353559140 | MITF | c.236C>A (p.Thr79Lys) c.233C>A (p.Thr78Lys) n.458C>A c.284C>A (p.Thr95Lys) c.281C>A (p.Thr94Lys) c.128C>A (p.Thr43Lys) n.439C>A | |
| 3 | g.69879313C>G | CA353559141 | MITF | c.236C>G (p.Thr79Arg) c.233C>G (p.Thr78Arg) n.458C>G c.284C>G (p.Thr95Arg) c.281C>G (p.Thr94Arg) c.128C>G (p.Thr43Arg) n.439C>G | dbSNP |
| 3 | g.69879313C>T | CA353559142 | MITF | c.236C>T (p.Thr79Ile) c.233C>T (p.Thr78Ile) n.458C>T c.284C>T (p.Thr95Ile) c.281C>T (p.Thr94Ile) c.128C>T (p.Thr43Ile) n.439C>T | dbSNP |
| 3 | g.69879313_69879314delinsCA | CA1373433908 | MITF | c.236_237delinsCA (p.Thr79=) c.233_234delinsCA (p.Thr78=) n.458_459delinsCA c.284_285delinsCA (p.Thr95=) c.281_282delinsCA (p.Thr94=) c.128_129delinsCA (p.Thr43=) n.439_440delinsCA | |
| 3 | g.69879315_69879317del | CA2666478868 | MITF | c.238_240del (p.Pro80del) c.235_237del (p.Pro79del) n.460_462del c.286_288del (p.Pro96del) c.283_285del (p.Pro95del) c.130_132del (p.Pro44del) n.441_443del | gnomAD v4 |
| 3 | g.69879314del | CA2490285 | MITF | c.237del (p.Pro80GlnfsTer3) c.234del (p.Pro79GlnfsTer3) n.459del c.285del (p.Pro96GlnfsTer3) c.282del (p.Pro95GlnfsTer3) c.129del (p.Pro44GlnfsTer3) n.440del | dbSNP ExAC |
| 3 | g.69879314A= | CA1373433911 | MITF | c.237A= (p.Thr79=) c.234A= (p.Thr78=) n.459A= c.285A= (p.Thr95=) c.282A= (p.Thr94=) c.129A= (p.Thr43=) n.440A= | |
| 3 | g.69879314A>C | CA2490286 | MITF | c.237A>C (p.Thr79=) c.234A>C (p.Thr78=) n.459A>C c.285A>C (p.Thr95=) c.282A>C (p.Thr94=) c.129A>C (p.Thr43=) n.440A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879314A>G | CA434305783 | MITF | c.237A>G (p.Thr79=) c.234A>G (p.Thr78=) n.459A>G c.285A>G (p.Thr95=) c.282A>G (p.Thr94=) c.129A>G (p.Thr43=) n.440A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69879314A>T | CA434305784 | MITF | c.237A>T (p.Thr79=) c.234A>T (p.Thr78=) n.459A>T c.285A>T (p.Thr95=) c.282A>T (p.Thr94=) c.129A>T (p.Thr43=) n.440A>T | dbSNP |
| 3 | g.69879315C>A | CA353559145 | MITF | c.238C>A (p.Pro80Thr) c.235C>A (p.Pro79Thr) n.460C>A c.286C>A (p.Pro96Thr) c.283C>A (p.Pro95Thr) c.130C>A (p.Pro44Thr) n.441C>A | dbSNP |
| 3 | g.69879315C= | CA1373433915 | MITF | c.238C= (p.Pro80=) c.235C= (p.Pro79=) n.460C= c.286C= (p.Pro96=) c.283C= (p.Pro95=) c.130C= (p.Pro44=) n.441C= | |
| 3 | g.69879315C>G | CA353559144 | MITF | c.238C>G (p.Pro80Ala) c.235C>G (p.Pro79Ala) n.460C>G c.286C>G (p.Pro96Ala) c.283C>G (p.Pro95Ala) c.130C>G (p.Pro44Ala) n.441C>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69879315C>T | CA353559143 | MITF | c.238C>T (p.Pro80Ser) c.235C>T (p.Pro79Ser) n.460C>T c.286C>T (p.Pro96Ser) c.283C>T (p.Pro95Ser) c.130C>T (p.Pro44Ser) n.441C>T | dbSNP gnomAD v4 |
| 3 | g.69879316C>A | CA353559146 | MITF | c.239C>A (p.Pro80Gln) c.236C>A (p.Pro79Gln) n.461C>A c.287C>A (p.Pro96Gln) c.284C>A (p.Pro95Gln) c.131C>A (p.Pro44Gln) n.442C>A | |
| 3 | g.69879316C>G | CA353559147 | MITF | c.239C>G (p.Pro80Arg) c.236C>G (p.Pro79Arg) n.461C>G c.287C>G (p.Pro96Arg) c.284C>G (p.Pro95Arg) c.131C>G (p.Pro44Arg) n.442C>G | dbSNP |
| 3 | g.69879316C>T | CA353559148 | MITF | c.239C>T (p.Pro80Leu) c.236C>T (p.Pro79Leu) n.461C>T c.287C>T (p.Pro96Leu) c.284C>T (p.Pro95Leu) c.131C>T (p.Pro44Leu) n.442C>T | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.69879317A>C | CA434305785 | MITF | c.240A>C (p.Pro80=) c.237A>C (p.Pro79=) n.462A>C c.288A>C (p.Pro96=) c.285A>C (p.Pro95=) c.132A>C (p.Pro44=) n.443A>C | |
| 3 | g.69879317A>G | CA434305786 | MITF | c.240A>G (p.Pro80=) c.237A>G (p.Pro79=) n.462A>G c.288A>G (p.Pro96=) c.285A>G (p.Pro95=) c.132A>G (p.Pro44=) n.443A>G | |
| 3 | g.69879317A>T | CA434305787 | MITF | c.240A>T (p.Pro80=) c.237A>T (p.Pro79=) n.462A>T c.288A>T (p.Pro96=) c.285A>T (p.Pro95=) c.132A>T (p.Pro44=) n.443A>T | dbSNP |
| 3 | g.69879318G>A | CA353559149 | MITF | c.241G>A (p.Ala81Thr) c.238G>A (p.Ala80Thr) n.463G>A c.289G>A (p.Ala97Thr) c.286G>A (p.Ala96Thr) c.133G>A (p.Ala45Thr) n.444G>A | dbSNP |
| 3 | g.69879318G>C | CA353559150 | MITF | c.241G>C (p.Ala81Pro) c.238G>C (p.Ala80Pro) n.463G>C c.289G>C (p.Ala97Pro) c.286G>C (p.Ala96Pro) c.133G>C (p.Ala45Pro) n.444G>C | dbSNP gnomAD v4 |
| 3 | g.69879318G= | CA1373433918 | MITF | c.241G= (p.Ala81=) c.238G= (p.Ala80=) n.463G= c.289G= (p.Ala97=) c.286G= (p.Ala96=) c.133G= (p.Ala45=) n.444G= | |
| 3 | g.69879318G>T | CA353559151 | MITF | c.241G>T (p.Ala81Ser) c.238G>T (p.Ala80Ser) n.463G>T c.289G>T (p.Ala97Ser) c.286G>T (p.Ala96Ser) c.133G>T (p.Ala45Ser) n.444G>T | |
| 3 | g.69879318_69879319delinsGC | CA1373433917 | MITF | c.241_242delinsGC (p.Ala81=) c.238_239delinsGC (p.Ala80=) n.463_464delinsGC c.289_290delinsGC (p.Ala97=) c.286_287delinsGC (p.Ala96=) c.133_134delinsGC (p.Ala45=) n.444_445delinsGC | |
| 3 | g.69879319C>A | CA353559153 | MITF | c.242C>A (p.Ala81Asp) c.239C>A (p.Ala80Asp) n.464C>A c.290C>A (p.Ala97Asp) c.287C>A (p.Ala96Asp) c.134C>A (p.Ala45Asp) n.445C>A | dbSNP |
| 3 | g.69879319C= | CA1373433919 | MITF | c.242C= (p.Ala81=) c.239C= (p.Ala80=) n.464C= c.290C= (p.Ala97=) c.287C= (p.Ala96=) c.134C= (p.Ala45=) n.445C= | |
| 3 | g.69879319C>G | CA353559152 | MITF | c.242C>G (p.Ala81Gly) c.239C>G (p.Ala80Gly) n.464C>G c.290C>G (p.Ala97Gly) c.287C>G (p.Ala96Gly) c.134C>G (p.Ala45Gly) n.445C>G | dbSNP |
| 3 | g.69879319C>T | CA2490287 | MITF | c.242C>T (p.Ala81Val) c.239C>T (p.Ala80Val) n.464C>T c.290C>T (p.Ala97Val) c.287C>T (p.Ala96Val) c.134C>T (p.Ala45Val) n.445C>T | dbSNP ExAC gnomAD v2 |
| 3 | g.69879320del | CA76994007 | MITF | c.243del (p.Ile82Ter) c.240del (p.Ile81Ter) n.465del c.291del (p.Ile98Ter) c.288del (p.Ile97Ter) c.135del (p.Ile46Ter) n.446del | dbSNP |
| 3 | g.69879320C>A | CA434305790 | MITF | c.243C>A (p.Ala81=) c.240C>A (p.Ala80=) n.465C>A c.291C>A (p.Ala97=) c.288C>A (p.Ala96=) c.135C>A (p.Ala45=) n.446C>A | dbSNP |
| 3 | g.69879320C>G | CA434305789 | MITF | c.243C>G (p.Ala81=) c.240C>G (p.Ala80=) n.465C>G c.291C>G (p.Ala97=) c.288C>G (p.Ala96=) c.135C>G (p.Ala45=) n.446C>G | dbSNP |
| 3 | g.69879320C>T | CA434305788 | MITF | c.243C>T (p.Ala81=) c.240C>T (p.Ala80=) n.465C>T c.291C>T (p.Ala97=) c.288C>T (p.Ala96=) c.135C>T (p.Ala45=) n.446C>T | dbSNP |
| 3 | g.69879321A>C | CA353559155 | MITF | c.244A>C (p.Ile82Leu) c.241A>C (p.Ile81Leu) n.466A>C c.292A>C (p.Ile98Leu) c.289A>C (p.Ile97Leu) c.136A>C (p.Ile46Leu) n.447A>C | dbSNP |
| 3 | g.69879321A>G | CA353559154 | MITF | c.244A>G (p.Ile82Val) c.241A>G (p.Ile81Val) n.466A>G c.292A>G (p.Ile98Val) c.289A>G (p.Ile97Val) c.136A>G (p.Ile46Val) n.447A>G | dbSNP gnomAD v4 |
| 3 | g.69879321A>T | CA353559156 | MITF | c.244A>T (p.Ile82Leu) c.241A>T (p.Ile81Leu) n.466A>T c.292A>T (p.Ile98Leu) c.289A>T (p.Ile97Leu) c.136A>T (p.Ile46Leu) n.447A>T | dbSNP |
| 3 | g.69879322T>A | CA353559157 | MITF | c.245T>A (p.Ile82Lys) c.242T>A (p.Ile81Lys) n.467T>A c.293T>A (p.Ile98Lys) c.290T>A (p.Ile97Lys) c.137T>A (p.Ile46Lys) n.448T>A | |
| 3 | g.69879322T>C | CA353559158 | MITF | c.245T>C (p.Ile82Thr) c.242T>C (p.Ile81Thr) n.467T>C c.293T>C (p.Ile98Thr) c.290T>C (p.Ile97Thr) c.137T>C (p.Ile46Thr) n.448T>C | |
| 3 | g.69879322T>G | CA353559159 | MITF | c.245T>G (p.Ile82Arg) c.242T>G (p.Ile81Arg) n.467T>G c.293T>G (p.Ile98Arg) c.290T>G (p.Ile97Arg) c.137T>G (p.Ile46Arg) n.448T>G | |
| 3 | g.69879323A>C | CA434305792 | MITF | c.246A>C (p.Ile82=) c.243A>C (p.Ile81=) n.468A>C c.294A>C (p.Ile98=) c.291A>C (p.Ile97=) c.138A>C (p.Ile46=) n.449A>C | |
| 3 | g.69879323A>G | CA353559160 | MITF | c.246A>G (p.Ile82Met) c.243A>G (p.Ile81Met) n.468A>G c.294A>G (p.Ile98Met) c.291A>G (p.Ile97Met) c.138A>G (p.Ile46Met) n.449A>G | |
| 3 | g.69879323A>T | CA434305791 | MITF | c.246A>T (p.Ile82=) c.243A>T (p.Ile81=) n.468A>T c.294A>T (p.Ile98=) c.291A>T (p.Ile97=) c.138A>T (p.Ile46=) n.449A>T | |
| 3 | g.69879324A>C | CA353559161 | MITF | c.247A>C (p.Asn83His) c.244A>C (p.Asn82His) n.469A>C c.295A>C (p.Asn99His) c.292A>C (p.Asn98His) c.139A>C (p.Asn47His) n.450A>C | dbSNP |
| 3 | g.69879324A>G | CA353559162 | MITF | c.247A>G (p.Asn83Asp) c.244A>G (p.Asn82Asp) n.469A>G c.295A>G (p.Asn99Asp) c.292A>G (p.Asn98Asp) c.139A>G (p.Asn47Asp) n.450A>G | |
| 3 | g.69879324A>T | CA353559163 | MITF | c.247A>T (p.Asn83Tyr) c.244A>T (p.Asn82Tyr) n.469A>T c.295A>T (p.Asn99Tyr) c.292A>T (p.Asn98Tyr) c.139A>T (p.Asn47Tyr) n.450A>T | dbSNP |
| 3 | g.69879325A>C | CA353559164 | MITF | c.248A>C (p.Asn83Thr) c.245A>C (p.Asn82Thr) n.470A>C c.296A>C (p.Asn99Thr) c.293A>C (p.Asn98Thr) c.140A>C (p.Asn47Thr) n.451A>C | dbSNP |
| 3 | g.69879325A>G | CA353559165 | MITF | c.248A>G (p.Asn83Ser) c.245A>G (p.Asn82Ser) n.470A>G c.296A>G (p.Asn99Ser) c.293A>G (p.Asn98Ser) c.140A>G (p.Asn47Ser) n.451A>G | dbSNP |
| 3 | g.69879325A>T | CA353559166 | MITF | c.248A>T (p.Asn83Ile) c.245A>T (p.Asn82Ile) n.470A>T c.296A>T (p.Asn99Ile) c.293A>T (p.Asn98Ile) c.140A>T (p.Asn47Ile) n.451A>T | dbSNP gnomAD v4 |
| 3 | g.69879326C>A | CA353559167 | MITF | c.249C>A (p.Asn83Lys) c.246C>A (p.Asn82Lys) n.471C>A c.297C>A (p.Asn99Lys) c.294C>A (p.Asn98Lys) c.141C>A (p.Asn47Lys) n.452C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69879326C= | CA1373433923 | MITF | c.249C= (p.Asn83=) c.246C= (p.Asn82=) n.471C= c.297C= (p.Asn99=) c.294C= (p.Asn98=) c.141C= (p.Asn47=) n.452C= | |
| 3 | g.69879326C>G | CA353559168 | MITF | c.249C>G (p.Asn83Lys) c.246C>G (p.Asn82Lys) n.471C>G c.297C>G (p.Asn99Lys) c.294C>G (p.Asn98Lys) c.141C>G (p.Asn47Lys) n.452C>G | dbSNP |
| 3 | g.69879326C>T | CA2490288 | MITF | c.249C>T (p.Asn83=) c.246C>T (p.Asn82=) n.471C>T c.297C>T (p.Asn99=) c.294C>T (p.Asn98=) c.141C>T (p.Asn47=) n.452C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69879327G>A | CA353559169 | MITF | c.250G>A (p.Val84Ile) c.247G>A (p.Val83Ile) n.472G>A c.298G>A (p.Val100Ile) c.295G>A (p.Val99Ile) c.142G>A (p.Val48Ile) n.453G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.69879327G>C | CA353559171 | MITF | c.250G>C (p.Val84Leu) c.247G>C (p.Val83Leu) n.472G>C c.298G>C (p.Val100Leu) c.295G>C (p.Val99Leu) c.142G>C (p.Val48Leu) n.453G>C | dbSNP |
| 3 | g.69879327G= | CA1373433927 | MITF | c.250G= (p.Val84=) c.247G= (p.Val83=) n.472G= c.298G= (p.Val100=) c.295G= (p.Val99=) c.142G= (p.Val48=) n.453G= | |
| 3 | g.69879327G>T | CA353559170 | MITF | c.250G>T (p.Val84Phe) c.247G>T (p.Val83Phe) n.472G>T c.298G>T (p.Val100Phe) c.295G>T (p.Val99Phe) c.142G>T (p.Val48Phe) n.453G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69879328T>A | CA353559172 | MITF | c.251T>A (p.Val84Asp) c.248T>A (p.Val83Asp) n.473T>A c.299T>A (p.Val100Asp) c.296T>A (p.Val99Asp) c.143T>A (p.Val48Asp) n.454T>A | dbSNP |
| 3 | g.69879328T>C | CA353559173 | MITF | c.251T>C (p.Val84Ala) c.248T>C (p.Val83Ala) n.473T>C c.299T>C (p.Val100Ala) c.296T>C (p.Val99Ala) c.143T>C (p.Val48Ala) n.454T>C | |
| 3 | g.69879328T>G | CA353559174 | MITF | c.251T>G (p.Val84Gly) c.248T>G (p.Val83Gly) n.473T>G c.299T>G (p.Val100Gly) c.296T>G (p.Val99Gly) c.143T>G (p.Val48Gly) n.454T>G | |
| 3 | g.69879328_69879329del | CA2666478869 | MITF | c.251_252del (p.Val84GlufsTer18) c.248_249del (p.Val83GlufsTer18) n.473_474del c.299_300del (p.Val100GlufsTer18) c.296_297del (p.Val99GlufsTer18) c.143_144del (p.Val48GlufsTer18) n.454_455del | gnomAD v4 |
| 3 | g.69879329C>A | CA434305793 | MITF | c.252C>A (p.Val84=) c.249C>A (p.Val83=) n.474C>A c.300C>A (p.Val100=) c.297C>A (p.Val99=) c.144C>A (p.Val48=) n.455C>A | |
| 3 | g.69879329C>G | CA434305794 | MITF | c.252C>G (p.Val84=) c.249C>G (p.Val83=) n.474C>G c.300C>G (p.Val100=) c.297C>G (p.Val99=) c.144C>G (p.Val48=) n.455C>G | dbSNP |
| 3 | g.69879329C>T | CA434305795 | MITF | c.252C>T (p.Val84=) c.249C>T (p.Val83=) n.474C>T c.300C>T (p.Val100=) c.297C>T (p.Val99=) c.144C>T (p.Val48=) n.455C>T | dbSNP gnomAD v4 |
| 3 | g.69879330A>C | CA353559175 | MITF | c.253A>C (p.Ser85Arg) c.250A>C (p.Ser84Arg) n.475A>C c.301A>C (p.Ser101Arg) c.298A>C (p.Ser100Arg) c.145A>C (p.Ser49Arg) n.456A>C | |
| 3 | g.69879330A>G | CA353559176 | MITF | c.253A>G (p.Ser85Gly) c.250A>G (p.Ser84Gly) n.475A>G c.301A>G (p.Ser101Gly) c.298A>G (p.Ser100Gly) c.145A>G (p.Ser49Gly) n.456A>G | dbSNP |
| 3 | g.69879330A>T | CA353559177 | MITF | c.253A>T (p.Ser85Cys) c.250A>T (p.Ser84Cys) n.475A>T c.301A>T (p.Ser101Cys) c.298A>T (p.Ser100Cys) c.145A>T (p.Ser49Cys) n.456A>T | |
| 3 | g.69879330_69879331insAG | CA2666478870 | MITF | c.253_254insAG (p.Ser85LysfsTer?) c.250_251insAG (p.Ser84LysfsTer?) n.475_476insAG c.301_302insAG (p.Ser101LysfsTer?) c.298_299insAG (p.Ser100LysfsTer?) c.145_146insAG (p.Ser49LysfsTer?) n.456_457insAG | gnomAD v4 |
| 3 | g.69879331G>A | CA353559178 | MITF | c.254G>A (p.Ser85Asn) c.251G>A (p.Ser84Asn) n.476G>A c.302G>A (p.Ser101Asn) c.299G>A (p.Ser100Asn) c.146G>A (p.Ser49Asn) n.457G>A | dbSNP |
| 3 | g.69879331G>C | CA353559179 | MITF | c.254G>C (p.Ser85Thr) c.251G>C (p.Ser84Thr) n.476G>C c.302G>C (p.Ser101Thr) c.299G>C (p.Ser100Thr) c.146G>C (p.Ser49Thr) n.457G>C | dbSNP |
| 3 | g.69879331G>T | CA353559180 | MITF | c.254G>T (p.Ser85Ile) c.251G>T (p.Ser84Ile) n.476G>T c.302G>T (p.Ser101Ile) c.299G>T (p.Ser100Ile) c.146G>T (p.Ser49Ile) n.457G>T | |
| 3 | g.69879332T>A | CA353559181 | MITF | c.255T>A (p.Ser85Arg) c.252T>A (p.Ser84Arg) n.477T>A c.303T>A (p.Ser101Arg) c.300T>A (p.Ser100Arg) c.147T>A (p.Ser49Arg) n.458T>A | |
| 3 | g.69879332T>C | CA434305796 | MITF | c.255T>C (p.Ser85=) c.252T>C (p.Ser84=) n.477T>C c.303T>C (p.Ser101=) c.300T>C (p.Ser100=) c.147T>C (p.Ser49=) n.458T>C | |
| 3 | g.69879332T>G | CA353559182 | MITF | c.255T>G (p.Ser85Arg) c.252T>G (p.Ser84Arg) n.477T>G c.303T>G (p.Ser101Arg) c.300T>G (p.Ser100Arg) c.147T>G (p.Ser49Arg) n.458T>G | |
| 3 | g.69879333G>A | CA353559185 | MITF | c.256G>A (p.Val86Met) c.253G>A (p.Val85Met) n.478G>A c.304G>A (p.Val102Met) c.301G>A (p.Val101Met) c.148G>A (p.Val50Met) n.459G>A | dbSNP |
| 3 | g.69879333G>C | CA353559184 | MITF | c.256G>C (p.Val86Leu) c.253G>C (p.Val85Leu) n.478G>C c.304G>C (p.Val102Leu) c.301G>C (p.Val101Leu) c.148G>C (p.Val50Leu) n.459G>C | dbSNP |
| 3 | g.69879333G>T | CA353559183 | MITF | c.256G>T (p.Val86Leu) c.253G>T (p.Val85Leu) n.478G>T c.304G>T (p.Val102Leu) c.301G>T (p.Val101Leu) c.148G>T (p.Val50Leu) n.459G>T | |
| 3 | g.69879334T>A | CA353559188 | MITF | c.257T>A (p.Val86Glu) c.254T>A (p.Val85Glu) n.479T>A c.305T>A (p.Val102Glu) c.302T>A (p.Val101Glu) c.149T>A (p.Val50Glu) n.460T>A | dbSNP |
| 3 | g.69879334T>C | CA353559186 | MITF | c.257T>C (p.Val86Ala) c.254T>C (p.Val85Ala) n.479T>C c.305T>C (p.Val102Ala) c.302T>C (p.Val101Ala) c.149T>C (p.Val50Ala) n.460T>C | dbSNP |
| 3 | g.69879334T>G | CA353559187 | MITF | c.257T>G (p.Val86Gly) c.254T>G (p.Val85Gly) n.479T>G c.305T>G (p.Val102Gly) c.302T>G (p.Val101Gly) c.149T>G (p.Val50Gly) n.460T>G | |
| 3 | g.69879335G>A | CA2490289 | MITF | c.258G>A (p.Val86=) c.255G>A (p.Val85=) n.480G>A c.306G>A (p.Val102=) c.303G>A (p.Val101=) c.150G>A (p.Val50=) n.461G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879335G>C | CA434305798 | MITF | c.258G>C (p.Val86=) c.255G>C (p.Val85=) n.480G>C c.306G>C (p.Val102=) c.303G>C (p.Val101=) c.150G>C (p.Val50=) n.461G>C | |
| 3 | g.69879335G= | CA1373433929 | MITF | c.258G= (p.Val86=) c.255G= (p.Val85=) n.480G= c.306G= (p.Val102=) c.303G= (p.Val101=) c.150G= (p.Val50=) n.461G= | |
| 3 | g.69879335G>T | CA434305797 | MITF | c.258G>T (p.Val86=) c.255G>T (p.Val85=) n.480G>T c.306G>T (p.Val102=) c.303G>T (p.Val101=) c.150G>T (p.Val50=) n.461G>T | |
| 3 | g.69879336C>A | CA353559189 | MITF | c.259C>A (p.Pro87Thr) c.256C>A (p.Pro86Thr) n.481C>A c.307C>A (p.Pro103Thr) c.304C>A (p.Pro102Thr) c.151C>A (p.Pro51Thr) n.462C>A | dbSNP |
| 3 | g.69879336C>G | CA353559190 | MITF | c.259C>G (p.Pro87Ala) c.256C>G (p.Pro86Ala) n.481C>G c.307C>G (p.Pro103Ala) c.304C>G (p.Pro102Ala) c.151C>G (p.Pro51Ala) n.462C>G | dbSNP |
| 3 | g.69879336C>T | CA353559191 | MITF | c.259C>T (p.Pro87Ser) c.256C>T (p.Pro86Ser) n.481C>T c.307C>T (p.Pro103Ser) c.304C>T (p.Pro102Ser) c.151C>T (p.Pro51Ser) n.462C>T | dbSNP |
| 3 | g.69879337C>A | CA353559192 | MITF | c.260C>A (p.Pro87His) c.257C>A (p.Pro86His) n.482C>A c.308C>A (p.Pro103His) c.305C>A (p.Pro102His) c.152C>A (p.Pro51His) n.463C>A | |
| 3 | g.69879337C>G | CA353559193 | MITF | c.260C>G (p.Pro87Arg) c.257C>G (p.Pro86Arg) n.482C>G c.308C>G (p.Pro103Arg) c.305C>G (p.Pro102Arg) c.152C>G (p.Pro51Arg) n.463C>G | |
| 3 | g.69879337C>T | CA353559194 | MITF | c.260C>T (p.Pro87Leu) c.257C>T (p.Pro86Leu) n.482C>T c.308C>T (p.Pro103Leu) c.305C>T (p.Pro102Leu) c.152C>T (p.Pro51Leu) n.463C>T | |
| 3 | g.69879338C>A | CA434305799 | MITF | c.261C>A (p.Pro87=) c.258C>A (p.Pro86=) n.483C>A c.309C>A (p.Pro103=) c.306C>A (p.Pro102=) c.153C>A (p.Pro51=) n.464C>A | dbSNP |
| 3 | g.69879338C= | CA1373433932 | MITF | c.261C= (p.Pro87=) c.258C= (p.Pro86=) n.483C= c.309C= (p.Pro103=) c.306C= (p.Pro102=) c.153C= (p.Pro51=) n.464C= | |
| 3 | g.69879338C>G | CA434305800 | MITF | c.261C>G (p.Pro87=) c.258C>G (p.Pro86=) n.483C>G c.309C>G (p.Pro103=) c.306C>G (p.Pro102=) c.153C>G (p.Pro51=) n.464C>G | dbSNP |
| 3 | g.69879338C>T | CA2490290 | MITF | c.261C>T (p.Pro87=) c.258C>T (p.Pro86=) n.483C>T c.309C>T (p.Pro103=) c.306C>T (p.Pro102=) c.153C>T (p.Pro51=) n.464C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69879339A>C | CA353559195 | MITF | c.262A>C (p.Thr88Pro) c.259A>C (p.Thr87Pro) n.484A>C c.310A>C (p.Thr104Pro) c.307A>C (p.Thr103Pro) c.154A>C (p.Thr52Pro) n.465A>C | |
| 3 | g.69879339A>G | CA353559196 | MITF | c.262A>G (p.Thr88Ala) c.259A>G (p.Thr87Ala) n.484A>G c.310A>G (p.Thr104Ala) c.307A>G (p.Thr103Ala) c.154A>G (p.Thr52Ala) n.465A>G | |
| 3 | g.69879339A>T | CA353559197 | MITF | c.262A>T (p.Thr88Ser) c.259A>T (p.Thr87Ser) n.484A>T c.310A>T (p.Thr104Ser) c.307A>T (p.Thr103Ser) c.154A>T (p.Thr52Ser) n.465A>T | |
| 3 | g.69879340C>A | CA353559200 | MITF | c.263C>A (p.Thr88Asn) c.260C>A (p.Thr87Asn) n.485C>A c.311C>A (p.Thr104Asn) c.308C>A (p.Thr103Asn) c.155C>A (p.Thr52Asn) n.466C>A | dbSNP |
| 3 | g.69879340C= | CA1373433935 | MITF | c.263C= (p.Thr88=) c.260C= (p.Thr87=) n.485C= c.311C= (p.Thr104=) c.308C= (p.Thr103=) c.155C= (p.Thr52=) n.466C= | |
| 3 | g.69879340C>G | CA353559198 | MITF | c.263C>G (p.Thr88Ser) c.260C>G (p.Thr87Ser) n.485C>G c.311C>G (p.Thr104Ser) c.308C>G (p.Thr103Ser) c.155C>G (p.Thr52Ser) n.466C>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69879340C>T | CA353559199 | MITF | c.263C>T (p.Thr88Ile) c.260C>T (p.Thr87Ile) n.485C>T c.311C>T (p.Thr104Ile) c.308C>T (p.Thr103Ile) c.155C>T (p.Thr52Ile) n.466C>T | dbSNP |
| 3 | g.69879341C>A | CA434305801 | MITF | c.264C>A (p.Thr88=) c.261C>A (p.Thr87=) n.486C>A c.312C>A (p.Thr104=) c.309C>A (p.Thr103=) c.156C>A (p.Thr52=) n.467C>A | dbSNP |
| 3 | g.69879341C= | CA1373433937 | MITF | c.264C= (p.Thr88=) c.261C= (p.Thr87=) n.486C= c.312C= (p.Thr104=) c.309C= (p.Thr103=) c.156C= (p.Thr52=) n.467C= | |
| 3 | g.69879341C>G | CA434305803 | MITF | c.264C>G (p.Thr88=) c.261C>G (p.Thr87=) n.486C>G c.312C>G (p.Thr104=) c.309C>G (p.Thr103=) c.156C>G (p.Thr52=) n.467C>G | dbSNP |
| 3 | g.69879341C>T | CA434305802 | MITF | c.264C>T (p.Thr88=) c.261C>T (p.Thr87=) n.486C>T c.312C>T (p.Thr104=) c.309C>T (p.Thr103=) c.156C>T (p.Thr52=) n.467C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.69879342A= | CA1373433940 | MITF | c.265A= (p.Thr89=) c.262A= (p.Thr88=) n.487A= c.313A= (p.Thr105=) c.310A= (p.Thr104=) c.157A= (p.Thr53=) n.468A= | |
| 3 | g.69879342A>C | CA353559201 | MITF | c.265A>C (p.Thr89Pro) c.262A>C (p.Thr88Pro) n.487A>C c.313A>C (p.Thr105Pro) c.310A>C (p.Thr104Pro) c.157A>C (p.Thr53Pro) n.468A>C | dbSNP |
| 3 | g.69879342A>G | CA353559202 | MITF | c.265A>G (p.Thr89Ala) c.262A>G (p.Thr88Ala) n.487A>G c.313A>G (p.Thr105Ala) c.310A>G (p.Thr104Ala) c.157A>G (p.Thr53Ala) n.468A>G | |
| 3 | g.69879342A>T | CA353559203 | MITF | c.265A>T (p.Thr89Ser) c.262A>T (p.Thr88Ser) n.487A>T c.313A>T (p.Thr105Ser) c.310A>T (p.Thr104Ser) c.157A>T (p.Thr53Ser) n.468A>T | dbSNP gnomAD v4 |
| 3 | g.69879343C>A | CA353559204 | MITF | c.266C>A (p.Thr89Asn) c.263C>A (p.Thr88Asn) n.488C>A c.314C>A (p.Thr105Asn) c.311C>A (p.Thr104Asn) c.158C>A (p.Thr53Asn) n.469C>A | dbSNP gnomAD v4 |
| 3 | g.69879343C>G | CA353559205 | MITF | c.266C>G (p.Thr89Ser) c.263C>G (p.Thr88Ser) n.488C>G c.314C>G (p.Thr105Ser) c.311C>G (p.Thr104Ser) c.158C>G (p.Thr53Ser) n.469C>G | dbSNP |
| 3 | g.69879343C>T | CA353559206 | MITF | c.266C>T (p.Thr89Ile) c.263C>T (p.Thr88Ile) n.488C>T c.314C>T (p.Thr105Ile) c.311C>T (p.Thr104Ile) c.158C>T (p.Thr53Ile) n.469C>T | dbSNP gnomAD v4 |
| 3 | g.69879344C>A | CA434305804 | MITF | c.267C>A (p.Thr89=) c.264C>A (p.Thr88=) n.489C>A c.315C>A (p.Thr105=) c.312C>A (p.Thr104=) c.159C>A (p.Thr53=) n.470C>A | dbSNP |
| 3 | g.69879344C= | CA1373433945 | MITF | c.267C= (p.Thr89=) c.264C= (p.Thr88=) n.489C= c.315C= (p.Thr105=) c.312C= (p.Thr104=) c.159C= (p.Thr53=) n.470C= | |
| 3 | g.69879344C>G | CA434305805 | MITF | c.267C>G (p.Thr89=) c.264C>G (p.Thr88=) n.489C>G c.315C>G (p.Thr105=) c.312C>G (p.Thr104=) c.159C>G (p.Thr53=) n.470C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.69879344C>T | CA2490291 | MITF | c.267C>T (p.Thr89=) c.264C>T (p.Thr88=) n.489C>T c.315C>T (p.Thr105=) c.312C>T (p.Thr104=) c.159C>T (p.Thr53=) n.470C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879345C>A | CA353559207 | MITF | c.268C>A (p.Leu90Ile) c.265C>A (p.Leu89Ile) n.490C>A c.316C>A (p.Leu106Ile) c.313C>A (p.Leu105Ile) c.160C>A (p.Leu54Ile) n.471C>A | |
| 3 | g.69879345C= | CA1373433947 | MITF | c.268C= (p.Leu90=) c.265C= (p.Leu89=) n.490C= c.316C= (p.Leu106=) c.313C= (p.Leu105=) c.160C= (p.Leu54=) n.471C= | |
| 3 | g.69879345C>G | CA353559208 | MITF | c.268C>G (p.Leu90Val) c.265C>G (p.Leu89Val) n.490C>G c.316C>G (p.Leu106Val) c.313C>G (p.Leu105Val) c.160C>G (p.Leu54Val) n.471C>G | |
| 3 | g.69879345C>T | CA2490292 | MITF | c.268C>T (p.Leu90Phe) c.265C>T (p.Leu89Phe) n.490C>T c.316C>T (p.Leu106Phe) c.313C>T (p.Leu105Phe) c.160C>T (p.Leu54Phe) n.471C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879346T>A | CA353559209 | MITF | c.269T>A (p.Leu90His) c.266T>A (p.Leu89His) n.491T>A c.317T>A (p.Leu106His) c.314T>A (p.Leu105His) c.161T>A (p.Leu54His) n.472T>A | dbSNP |
| 3 | g.69879346T>C | CA353559210 | MITF | c.269T>C (p.Leu90Pro) c.266T>C (p.Leu89Pro) n.491T>C c.317T>C (p.Leu106Pro) c.314T>C (p.Leu105Pro) c.161T>C (p.Leu54Pro) n.472T>C | |
| 3 | g.69879346T>G | CA353559211 | MITF | c.269T>G (p.Leu90Arg) c.266T>G (p.Leu89Arg) n.491T>G c.317T>G (p.Leu106Arg) c.314T>G (p.Leu105Arg) c.161T>G (p.Leu54Arg) n.472T>G | COSMIC COSMIC COSMIC |
| 3 | g.69879347T>A | CA434305806 | MITF | c.270T>A (p.Leu90=) c.267T>A (p.Leu89=) n.492T>A c.318T>A (p.Leu106=) c.315T>A (p.Leu105=) c.162T>A (p.Leu54=) n.473T>A | dbSNP |
| 3 | g.69879347T>C | CA434305807 | MITF | c.270T>C (p.Leu90=) c.267T>C (p.Leu89=) n.492T>C c.318T>C (p.Leu106=) c.315T>C (p.Leu105=) c.162T>C (p.Leu54=) n.473T>C | dbSNP |
| 3 | g.69879347T>G | CA434305808 | MITF | c.270T>G (p.Leu90=) c.267T>G (p.Leu89=) n.492T>G c.318T>G (p.Leu106=) c.315T>G (p.Leu105=) c.162T>G (p.Leu54=) n.473T>G | |
| 3 | g.69879348C>A | CA353559213 | MITF | c.271C>A (p.Pro91Thr) c.268C>A (p.Pro90Thr) n.493C>A c.319C>A (p.Pro107Thr) c.316C>A (p.Pro106Thr) c.163C>A (p.Pro55Thr) | dbSNP |
| 3 | g.69879348C>G | CA353559214 | MITF | c.271C>G (p.Pro91Ala) c.268C>G (p.Pro90Ala) n.493C>G c.319C>G (p.Pro107Ala) c.316C>G (p.Pro106Ala) c.163C>G (p.Pro55Ala) | dbSNP |
| 3 | g.69879348C>T | CA353559212 | MITF | c.271C>T (p.Pro91Ser) c.268C>T (p.Pro90Ser) n.493C>T c.319C>T (p.Pro107Ser) c.316C>T (p.Pro106Ser) c.163C>T (p.Pro55Ser) | dbSNP |
| 3 | g.69879349C>A | CA353559215 | MITF | c.272C>A (p.Pro91His) c.269C>A (p.Pro90His) n.494C>A c.320C>A (p.Pro107His) c.317C>A (p.Pro106His) c.164C>A (p.Pro55His) | dbSNP |
| 3 | g.69879349C>G | CA353559217 | MITF | c.272C>G (p.Pro91Arg) c.269C>G (p.Pro90Arg) n.494C>G c.320C>G (p.Pro107Arg) c.317C>G (p.Pro106Arg) c.164C>G (p.Pro55Arg) | dbSNP |
| 3 | g.69879349C>T | CA353559216 | MITF | c.272C>T (p.Pro91Leu) c.269C>T (p.Pro90Leu) n.494C>T c.320C>T (p.Pro107Leu) c.317C>T (p.Pro106Leu) c.164C>T (p.Pro55Leu) | dbSNP |
| 3 | g.69879350C>A | CA434305811 | MITF | c.273C>A (p.Pro91=) c.270C>A (p.Pro90=) n.495C>A c.321C>A (p.Pro107=) c.318C>A (p.Pro106=) c.165C>A (p.Pro55=) | dbSNP |
| 3 | g.69879350C= | CA1373433951 | MITF | c.273C= (p.Pro91=) c.270C= (p.Pro90=) n.495C= c.321C= (p.Pro107=) c.318C= (p.Pro106=) c.165C= (p.Pro55=) | |
| 3 | g.69879350C>G | CA434305809 | MITF | c.273C>G (p.Pro91=) c.270C>G (p.Pro90=) n.495C>G c.321C>G (p.Pro107=) c.318C>G (p.Pro106=) c.165C>G (p.Pro55=) | dbSNP |
| 3 | g.69879350C>T | CA434305810 | MITF | c.273C>T (p.Pro91=) c.270C>T (p.Pro90=) n.495C>T c.321C>T (p.Pro107=) c.318C>T (p.Pro106=) c.165C>T (p.Pro55=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.69879351T>A | CA353559218 | MITF | c.274T>A (p.Ser92Thr) c.271T>A (p.Ser91Thr) n.496T>A c.322T>A (p.Ser108Thr) c.319T>A (p.Ser107Thr) c.166T>A (p.Ser56Thr) | dbSNP |
| 3 | g.69879351T>C | CA353559219 | MITF | c.274T>C (p.Ser92Pro) c.271T>C (p.Ser91Pro) n.496T>C c.322T>C (p.Ser108Pro) c.319T>C (p.Ser107Pro) c.166T>C (p.Ser56Pro) | dbSNP |
| 3 | g.69879351T>G | CA353559220 | MITF | c.274T>G (p.Ser92Ala) c.271T>G (p.Ser91Ala) n.496T>G c.322T>G (p.Ser108Ala) c.319T>G (p.Ser107Ala) c.166T>G (p.Ser56Ala) | |
| 3 | g.69879352C>A | CA353559221 | MITF | c.275C>A (p.Ser92Tyr) c.272C>A (p.Ser91Tyr) n.497C>A c.323C>A (p.Ser108Tyr) c.320C>A (p.Ser107Tyr) c.167C>A (p.Ser56Tyr) | dbSNP |
| 3 | g.69879352C>G | CA353559222 | MITF | c.275C>G (p.Ser92Cys) c.272C>G (p.Ser91Cys) n.497C>G c.323C>G (p.Ser108Cys) c.320C>G (p.Ser107Cys) c.167C>G (p.Ser56Cys) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.69879352C>T | CA353559223 | MITF | c.275C>T (p.Ser92Phe) c.272C>T (p.Ser91Phe) n.497C>T c.323C>T (p.Ser108Phe) c.320C>T (p.Ser107Phe) c.167C>T (p.Ser56Phe) | dbSNP |
| 3 | g.69879353T>A | CA434305812 | MITF | c.276T>A (p.Ser92=) c.273T>A (p.Ser91=) n.498T>A c.324T>A (p.Ser108=) c.321T>A (p.Ser107=) c.168T>A (p.Ser56=) | dbSNP |
| 3 | g.69879353T>C | CA434305813 | MITF | c.276T>C (p.Ser92=) c.273T>C (p.Ser91=) n.498T>C c.324T>C (p.Ser108=) c.321T>C (p.Ser107=) c.168T>C (p.Ser56=) | dbSNP gnomAD v4 |
| 3 | g.69879353T>G | CA434305814 | MITF | c.276T>G (p.Ser92=) c.273T>G (p.Ser91=) n.498T>G c.324T>G (p.Ser108=) c.321T>G (p.Ser107=) c.168T>G (p.Ser56=) | |
| 3 | g.69879354G>A | CA353559224 | MITF | c.277G>A (p.Ala93Thr) c.274G>A (p.Ala92Thr) n.499G>A c.325G>A (p.Ala109Thr) c.322G>A (p.Ala108Thr) c.169G>A (p.Ala57Thr) | dbSNP |
| 3 | g.69879354G>C | CA353559225 | MITF | c.277G>C (p.Ala93Pro) c.274G>C (p.Ala92Pro) n.499G>C c.325G>C (p.Ala109Pro) c.322G>C (p.Ala108Pro) c.169G>C (p.Ala57Pro) | |
| 3 | g.69879354G>T | CA353559226 | MITF | c.277G>T (p.Ala93Ser) c.274G>T (p.Ala92Ser) n.499G>T c.325G>T (p.Ala109Ser) c.322G>T (p.Ala108Ser) c.169G>T (p.Ala57Ser) | |
| 3 | g.69879355C>A | CA353559227 | MITF | c.278C>A (p.Ala93Asp) c.275C>A (p.Ala92Asp) n.500C>A c.326C>A (p.Ala109Asp) c.323C>A (p.Ala108Asp) c.170C>A (p.Ala57Asp) | dbSNP |
| 3 | g.69879355C>G | CA353559228 | MITF | c.278C>G (p.Ala93Gly) c.275C>G (p.Ala92Gly) n.500C>G c.326C>G (p.Ala109Gly) c.323C>G (p.Ala108Gly) c.170C>G (p.Ala57Gly) | dbSNP |
| 3 | g.69879355C>T | CA353559229 | MITF | c.278C>T (p.Ala93Val) c.275C>T (p.Ala92Val) n.500C>T c.326C>T (p.Ala109Val) c.323C>T (p.Ala108Val) c.170C>T (p.Ala57Val) | dbSNP |
| 3 | g.69879356C>A | CA434305817 | MITF | c.279C>A (p.Ala93=) c.276C>A (p.Ala92=) n.501C>A c.327C>A (p.Ala109=) c.324C>A (p.Ala108=) c.171C>A (p.Ala57=) | dbSNP |
| 3 | g.69879356C= | CA1373433954 | MITF | c.279C= (p.Ala93=) c.276C= (p.Ala92=) n.501C= c.327C= (p.Ala109=) c.324C= (p.Ala108=) c.171C= (p.Ala57=) | |
| 3 | g.69879356C>G | CA434305815 | MITF | c.279C>G (p.Ala93=) c.276C>G (p.Ala92=) n.501C>G c.327C>G (p.Ala109=) c.324C>G (p.Ala108=) c.171C>G (p.Ala57=) | dbSNP |
| 3 | g.69879356C>T | CA434305816 | MITF | c.279C>T (p.Ala93=) c.276C>T (p.Ala92=) n.501C>T c.327C>T (p.Ala109=) c.324C>T (p.Ala108=) c.171C>T (p.Ala57=) | dbSNP |
| 3 | g.69879357A= | CA1373433962 | MITF | c.280A= (p.Thr94=) c.277A= (p.Thr93=) n.502A= c.328A= (p.Thr110=) c.325A= (p.Thr109=) c.172A= (p.Thr58=) | |
| 3 | g.69879357A>C | CA353559230 | MITF | c.280A>C (p.Thr94Pro) c.277A>C (p.Thr93Pro) n.502A>C c.328A>C (p.Thr110Pro) c.325A>C (p.Thr109Pro) c.172A>C (p.Thr58Pro) | dbSNP |
| 3 | g.69879357A>G | CA2490293 | MITF | c.280A>G (p.Thr94Ala) c.277A>G (p.Thr93Ala) n.502A>G c.328A>G (p.Thr110Ala) c.325A>G (p.Thr109Ala) c.172A>G (p.Thr58Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.69879357A>T | CA353559231 | MITF | c.280A>T (p.Thr94Ser) c.277A>T (p.Thr93Ser) n.502A>T c.328A>T (p.Thr110Ser) c.325A>T (p.Thr109Ser) c.172A>T (p.Thr58Ser) | dbSNP |
| 3 | g.69879358C>A | CA353559232 | MITF | c.281C>A (p.Thr94Lys) c.278C>A (p.Thr93Lys) n.503C>A c.329C>A (p.Thr110Lys) c.326C>A (p.Thr109Lys) c.173C>A (p.Thr58Lys) | dbSNP |
| 3 | g.69879358C= | CA1373433967 | MITF | c.281C= (p.Thr94=) c.278C= (p.Thr93=) n.503C= c.329C= (p.Thr110=) c.326C= (p.Thr109=) c.173C= (p.Thr58=) | |
| 3 | g.69879358C>G | CA353559233 | MITF | c.281C>G (p.Thr94Arg) c.278C>G (p.Thr93Arg) n.503C>G c.329C>G (p.Thr110Arg) c.326C>G (p.Thr109Arg) c.173C>G (p.Thr58Arg) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.69879358C>T | CA2490294 | MITF | c.281C>T (p.Thr94Met) c.278C>T (p.Thr93Met) n.503C>T c.329C>T (p.Thr110Met) c.326C>T (p.Thr109Met) c.173C>T (p.Thr58Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |