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.69951870G>A | CA434306289 | MITF | c.873G>A (p.Lys291=) c.870G>A (p.Lys290=) n.1095G>A c.846G>A (p.Lys282=) c.939G>A (p.Lys313=) c.618G>A (p.Lys206=) c.918G>A (p.Lys306=) c.921G>A (p.Lys307=) c.600G>A (p.Lys200=) c.891G>A (p.Lys297=) c.765G>A (p.Lys255=) c.*265G>A (n.*265G>A) c.432G>A (p.Lys144=) c.783G>A (p.Lys261=) c.936G>A (p.Lys312=) c.888G>A (p.Lys296=) c.771G>A (p.Lys257=) c.753G>A (p.Lys251=) | |
| 3 | g.69951870G>C | CA16044010 | MITF | c.873G>C (p.Lys291Asn) c.870G>C (p.Lys290Asn) n.1095G>C c.846G>C (p.Lys282Asn) c.939G>C (p.Lys313Asn) c.618G>C (p.Lys206Asn) c.918G>C (p.Lys306Asn) c.921G>C (p.Lys307Asn) c.600G>C (p.Lys200Asn) c.891G>C (p.Lys297Asn) c.765G>C (p.Lys255Asn) c.*265G>C (n.*265G>C) c.432G>C (p.Lys144Asn) c.783G>C (p.Lys261Asn) c.936G>C (p.Lys312Asn) c.888G>C (p.Lys296Asn) c.771G>C (p.Lys257Asn) c.753G>C (p.Lys251Asn) | ClinVar dbSNP |
| 3 | g.69951870G= | CA1373443565 | MITF | c.873G= (p.Lys291=) c.870G= (p.Lys290=) n.1095G= c.846G= (p.Lys282=) c.939G= (p.Lys313=) c.618G= (p.Lys206=) c.918G= (p.Lys306=) c.921G= (p.Lys307=) c.600G= (p.Lys200=) c.891G= (p.Lys297=) c.765G= (p.Lys255=) c.*265G= (n.*265G=) c.432G= (p.Lys144=) c.783G= (p.Lys261=) c.936G= (p.Lys312=) c.888G= (p.Lys296=) c.771G= (p.Lys257=) c.753G= (p.Lys251=) | |
| 3 | g.69951870G>T | CA353561637 | MITF | c.873G>T (p.Lys291Asn) c.870G>T (p.Lys290Asn) n.1095G>T c.846G>T (p.Lys282Asn) c.939G>T (p.Lys313Asn) c.618G>T (p.Lys206Asn) c.918G>T (p.Lys306Asn) c.921G>T (p.Lys307Asn) c.600G>T (p.Lys200Asn) c.891G>T (p.Lys297Asn) c.765G>T (p.Lys255Asn) c.*265G>T (n.*265G>T) c.432G>T (p.Lys144Asn) c.783G>T (p.Lys261Asn) c.936G>T (p.Lys312Asn) c.888G>T (p.Lys296Asn) c.771G>T (p.Lys257Asn) c.753G>T (p.Lys251Asn) | |
| 3 | g.69951871G>A | CA353561638 | MITF | c.874G>A (p.Asp292Asn) c.871G>A (p.Asp291Asn) n.1096G>A c.847G>A (p.Asp283Asn) c.940G>A (p.Asp314Asn) c.619G>A (p.Asp207Asn) c.919G>A (p.Asp307Asn) c.922G>A (p.Asp308Asn) c.601G>A (p.Asp201Asn) c.892G>A (p.Asp298Asn) c.766G>A (p.Asp256Asn) c.*266G>A (n.*266G>A) c.433G>A (p.Asp145Asn) c.784G>A (p.Asp262Asn) c.937G>A (p.Asp313Asn) c.889G>A (p.Asp297Asn) c.772G>A (p.Asp258Asn) c.754G>A (p.Asp252Asn) | gnomAD v4 |
| 3 | g.69951871G>C | CA353561640 | MITF | c.874G>C (p.Asp292His) c.871G>C (p.Asp291His) n.1096G>C c.847G>C (p.Asp283His) c.940G>C (p.Asp314His) c.619G>C (p.Asp207His) c.919G>C (p.Asp307His) c.922G>C (p.Asp308His) c.601G>C (p.Asp201His) c.892G>C (p.Asp298His) c.766G>C (p.Asp256His) c.*266G>C (n.*266G>C) c.433G>C (p.Asp145His) c.784G>C (p.Asp262His) c.937G>C (p.Asp313His) c.889G>C (p.Asp297His) c.772G>C (p.Asp258His) c.754G>C (p.Asp252His) | |
| 3 | g.69951871G>T | CA353561639 | MITF | c.874G>T (p.Asp292Tyr) c.871G>T (p.Asp291Tyr) n.1096G>T c.847G>T (p.Asp283Tyr) c.940G>T (p.Asp314Tyr) c.619G>T (p.Asp207Tyr) c.919G>T (p.Asp307Tyr) c.922G>T (p.Asp308Tyr) c.601G>T (p.Asp201Tyr) c.892G>T (p.Asp298Tyr) c.766G>T (p.Asp256Tyr) c.*266G>T (n.*266G>T) c.433G>T (p.Asp145Tyr) c.784G>T (p.Asp262Tyr) c.937G>T (p.Asp313Tyr) c.889G>T (p.Asp297Tyr) c.772G>T (p.Asp258Tyr) c.754G>T (p.Asp252Tyr) | |
| 3 | g.69951872A>C | CA353561641 | MITF | c.875A>C (p.Asp292Ala) c.872A>C (p.Asp291Ala) n.1097A>C c.848A>C (p.Asp283Ala) c.941A>C (p.Asp314Ala) c.620A>C (p.Asp207Ala) c.920A>C (p.Asp307Ala) c.923A>C (p.Asp308Ala) c.602A>C (p.Asp201Ala) c.893A>C (p.Asp298Ala) c.767A>C (p.Asp256Ala) c.*267A>C (n.*267A>C) c.434A>C (p.Asp145Ala) c.785A>C (p.Asp262Ala) c.938A>C (p.Asp313Ala) c.890A>C (p.Asp297Ala) c.773A>C (p.Asp258Ala) c.755A>C (p.Asp252Ala) | |
| 3 | g.69951872A>G | CA353561642 | MITF | c.875A>G (p.Asp292Gly) c.872A>G (p.Asp291Gly) n.1097A>G c.848A>G (p.Asp283Gly) c.941A>G (p.Asp314Gly) c.620A>G (p.Asp207Gly) c.920A>G (p.Asp307Gly) c.923A>G (p.Asp308Gly) c.602A>G (p.Asp201Gly) c.893A>G (p.Asp298Gly) c.767A>G (p.Asp256Gly) c.*267A>G (n.*267A>G) c.434A>G (p.Asp145Gly) c.785A>G (p.Asp262Gly) c.938A>G (p.Asp313Gly) c.890A>G (p.Asp297Gly) c.773A>G (p.Asp258Gly) c.755A>G (p.Asp252Gly) | |
| 3 | g.69951872A>T | CA353561643 | MITF | c.875A>T (p.Asp292Val) c.872A>T (p.Asp291Val) n.1097A>T c.848A>T (p.Asp283Val) c.941A>T (p.Asp314Val) c.620A>T (p.Asp207Val) c.920A>T (p.Asp307Val) c.923A>T (p.Asp308Val) c.602A>T (p.Asp201Val) c.893A>T (p.Asp298Val) c.767A>T (p.Asp256Val) c.*267A>T (n.*267A>T) c.434A>T (p.Asp145Val) c.785A>T (p.Asp262Val) c.938A>T (p.Asp313Val) c.890A>T (p.Asp297Val) c.773A>T (p.Asp258Val) c.755A>T (p.Asp252Val) | |
| 3 | g.69951873C>A | CA353561644 | MITF | c.876C>A (p.Asp292Glu) c.873C>A (p.Asp291Glu) n.1098C>A c.849C>A (p.Asp283Glu) c.942C>A (p.Asp314Glu) c.621C>A (p.Asp207Glu) c.921C>A (p.Asp307Glu) c.924C>A (p.Asp308Glu) c.603C>A (p.Asp201Glu) c.894C>A (p.Asp298Glu) c.768C>A (p.Asp256Glu) c.*268C>A (n.*268C>A) c.435C>A (p.Asp145Glu) c.786C>A (p.Asp262Glu) c.939C>A (p.Asp313Glu) c.891C>A (p.Asp297Glu) c.774C>A (p.Asp258Glu) c.756C>A (p.Asp252Glu) | |
| 3 | g.69951873C>G | CA353561645 | MITF | c.876C>G (p.Asp292Glu) c.873C>G (p.Asp291Glu) n.1098C>G c.849C>G (p.Asp283Glu) c.942C>G (p.Asp314Glu) c.621C>G (p.Asp207Glu) c.921C>G (p.Asp307Glu) c.924C>G (p.Asp308Glu) c.603C>G (p.Asp201Glu) c.894C>G (p.Asp298Glu) c.768C>G (p.Asp256Glu) c.*268C>G (n.*268C>G) c.435C>G (p.Asp145Glu) c.786C>G (p.Asp262Glu) c.939C>G (p.Asp313Glu) c.891C>G (p.Asp297Glu) c.774C>G (p.Asp258Glu) c.756C>G (p.Asp252Glu) | |
| 3 | g.69951873C>T | CA434306290 | MITF | c.876C>T (p.Asp292=) c.873C>T (p.Asp291=) n.1098C>T c.849C>T (p.Asp283=) c.942C>T (p.Asp314=) c.621C>T (p.Asp207=) c.921C>T (p.Asp307=) c.924C>T (p.Asp308=) c.603C>T (p.Asp201=) c.894C>T (p.Asp298=) c.768C>T (p.Asp256=) c.*268C>T (n.*268C>T) c.435C>T (p.Asp145=) c.786C>T (p.Asp262=) c.939C>T (p.Asp313=) c.891C>T (p.Asp297=) c.774C>T (p.Asp258=) c.756C>T (p.Asp252=) | |
| 3 | g.69951874A>C | CA353561646 | MITF | c.877A>C (p.Asn293His) c.874A>C (p.Asn292His) n.1099A>C c.850A>C (p.Asn284His) c.943A>C (p.Asn315His) c.622A>C (p.Asn208His) c.922A>C (p.Asn308His) c.925A>C (p.Asn309His) c.604A>C (p.Asn202His) c.895A>C (p.Asn299His) c.769A>C (p.Asn257His) c.*269A>C (n.*269A>C) c.436A>C (p.Asn146His) c.787A>C (p.Asn263His) c.940A>C (p.Asn314His) c.892A>C (p.Asn298His) c.775A>C (p.Asn259His) c.757A>C (p.Asn253His) | |
| 3 | g.69951874A>G | CA353561647 | MITF | c.877A>G (p.Asn293Asp) c.874A>G (p.Asn292Asp) n.1099A>G c.850A>G (p.Asn284Asp) c.943A>G (p.Asn315Asp) c.622A>G (p.Asn208Asp) c.922A>G (p.Asn308Asp) c.925A>G (p.Asn309Asp) c.604A>G (p.Asn202Asp) c.895A>G (p.Asn299Asp) c.769A>G (p.Asn257Asp) c.*269A>G (n.*269A>G) c.436A>G (p.Asn146Asp) c.787A>G (p.Asn263Asp) c.940A>G (p.Asn314Asp) c.892A>G (p.Asn298Asp) c.775A>G (p.Asn259Asp) c.757A>G (p.Asn253Asp) | |
| 3 | g.69951874A>T | CA353561648 | MITF | c.877A>T (p.Asn293Tyr) c.874A>T (p.Asn292Tyr) n.1099A>T c.850A>T (p.Asn284Tyr) c.943A>T (p.Asn315Tyr) c.622A>T (p.Asn208Tyr) c.922A>T (p.Asn308Tyr) c.925A>T (p.Asn309Tyr) c.604A>T (p.Asn202Tyr) c.895A>T (p.Asn299Tyr) c.769A>T (p.Asn257Tyr) c.*269A>T (n.*269A>T) c.436A>T (p.Asn146Tyr) c.787A>T (p.Asn263Tyr) c.940A>T (p.Asn314Tyr) c.892A>T (p.Asn298Tyr) c.775A>T (p.Asn259Tyr) c.757A>T (p.Asn253Tyr) | |
| 3 | g.69951875A= | CA1373443568 | MITF | c.878A= (p.Asn293=) c.875A= (p.Asn292=) n.1100A= c.851A= (p.Asn284=) c.944A= (p.Asn315=) c.623A= (p.Asn208=) c.923A= (p.Asn308=) c.926A= (p.Asn309=) c.605A= (p.Asn202=) c.896A= (p.Asn299=) c.770A= (p.Asn257=) c.*270A= (n.*270A=) c.437A= (p.Asn146=) c.788A= (p.Asn263=) c.941A= (p.Asn314=) c.893A= (p.Asn298=) c.776A= (p.Asn259=) c.758A= (p.Asn253=) | |
| 3 | g.69951875A>C | CA353561649 | MITF | c.878A>C (p.Asn293Thr) c.875A>C (p.Asn292Thr) n.1100A>C c.851A>C (p.Asn284Thr) c.944A>C (p.Asn315Thr) c.623A>C (p.Asn208Thr) c.923A>C (p.Asn308Thr) c.926A>C (p.Asn309Thr) c.605A>C (p.Asn202Thr) c.896A>C (p.Asn299Thr) c.770A>C (p.Asn257Thr) c.*270A>C (n.*270A>C) c.437A>C (p.Asn146Thr) c.788A>C (p.Asn263Thr) c.941A>C (p.Asn314Thr) c.893A>C (p.Asn298Thr) c.776A>C (p.Asn259Thr) c.758A>C (p.Asn253Thr) | |
| 3 | g.69951875A>G | CA353561650 | MITF | c.878A>G (p.Asn293Ser) c.875A>G (p.Asn292Ser) n.1100A>G c.851A>G (p.Asn284Ser) c.944A>G (p.Asn315Ser) c.623A>G (p.Asn208Ser) c.923A>G (p.Asn308Ser) c.926A>G (p.Asn309Ser) c.605A>G (p.Asn202Ser) c.896A>G (p.Asn299Ser) c.770A>G (p.Asn257Ser) c.*270A>G (n.*270A>G) c.437A>G (p.Asn146Ser) c.788A>G (p.Asn263Ser) c.941A>G (p.Asn314Ser) c.893A>G (p.Asn298Ser) c.776A>G (p.Asn259Ser) c.758A>G (p.Asn253Ser) | dbSNP gnomAD v4 |
| 3 | g.69951875A>T | CA353561651 | MITF | c.878A>T (p.Asn293Ile) c.875A>T (p.Asn292Ile) n.1100A>T c.851A>T (p.Asn284Ile) c.944A>T (p.Asn315Ile) c.623A>T (p.Asn208Ile) c.923A>T (p.Asn308Ile) c.926A>T (p.Asn309Ile) c.605A>T (p.Asn202Ile) c.896A>T (p.Asn299Ile) c.770A>T (p.Asn257Ile) c.*270A>T (n.*270A>T) c.437A>T (p.Asn146Ile) c.788A>T (p.Asn263Ile) c.941A>T (p.Asn314Ile) c.893A>T (p.Asn298Ile) c.776A>T (p.Asn259Ile) c.758A>T (p.Asn253Ile) | |
| 3 | g.69951876T>A | CA353561653 | MITF | c.879T>A (p.Asn293Lys) c.876T>A (p.Asn292Lys) n.1101T>A c.852T>A (p.Asn284Lys) c.945T>A (p.Asn315Lys) c.624T>A (p.Asn208Lys) c.924T>A (p.Asn308Lys) c.927T>A (p.Asn309Lys) c.606T>A (p.Asn202Lys) c.897T>A (p.Asn299Lys) c.771T>A (p.Asn257Lys) c.*271T>A (n.*271T>A) c.438T>A (p.Asn146Lys) c.789T>A (p.Asn263Lys) c.942T>A (p.Asn314Lys) c.894T>A (p.Asn298Lys) c.777T>A (p.Asn259Lys) c.759T>A (p.Asn253Lys) | gnomAD v4 |
| 3 | g.69951876T>C | CA434306298 | MITF | c.879T>C (p.Asn293=) c.876T>C (p.Asn292=) n.1101T>C c.852T>C (p.Asn284=) c.945T>C (p.Asn315=) c.624T>C (p.Asn208=) c.924T>C (p.Asn308=) c.927T>C (p.Asn309=) c.606T>C (p.Asn202=) c.897T>C (p.Asn299=) c.771T>C (p.Asn257=) c.*271T>C (n.*271T>C) c.438T>C (p.Asn146=) c.789T>C (p.Asn263=) c.942T>C (p.Asn314=) c.894T>C (p.Asn298=) c.777T>C (p.Asn259=) c.759T>C (p.Asn253=) | gnomAD v4 |
| 3 | g.69951876T>G | CA353561652 | MITF | c.879T>G (p.Asn293Lys) c.876T>G (p.Asn292Lys) n.1101T>G c.852T>G (p.Asn284Lys) c.945T>G (p.Asn315Lys) c.624T>G (p.Asn208Lys) c.924T>G (p.Asn308Lys) c.927T>G (p.Asn309Lys) c.606T>G (p.Asn202Lys) c.897T>G (p.Asn299Lys) c.771T>G (p.Asn257Lys) c.*271T>G (n.*271T>G) c.438T>G (p.Asn146Lys) c.789T>G (p.Asn263Lys) c.942T>G (p.Asn314Lys) c.894T>G (p.Asn298Lys) c.777T>G (p.Asn259Lys) c.759T>G (p.Asn253Lys) | |
| 3 | g.69951877C>A | CA353561654 | MITF | c.880C>A (p.His294Asn) c.877C>A (p.His293Asn) n.1102C>A c.853C>A (p.His285Asn) c.946C>A (p.His316Asn) c.625C>A (p.His209Asn) c.925C>A (p.His309Asn) c.928C>A (p.His310Asn) c.607C>A (p.His203Asn) c.898C>A (p.His300Asn) c.772C>A (p.His258Asn) c.*272C>A (n.*272C>A) c.439C>A (p.His147Asn) c.790C>A (p.His264Asn) c.943C>A (p.His315Asn) c.895C>A (p.His299Asn) c.778C>A (p.His260Asn) c.760C>A (p.His254Asn) | gnomAD v4 |
| 3 | g.69951877C>G | CA353561656 | MITF | c.880C>G (p.His294Asp) c.877C>G (p.His293Asp) n.1102C>G c.853C>G (p.His285Asp) c.946C>G (p.His316Asp) c.625C>G (p.His209Asp) c.925C>G (p.His309Asp) c.928C>G (p.His310Asp) c.607C>G (p.His203Asp) c.898C>G (p.His300Asp) c.772C>G (p.His258Asp) c.*272C>G (n.*272C>G) c.439C>G (p.His147Asp) c.790C>G (p.His264Asp) c.943C>G (p.His315Asp) c.895C>G (p.His299Asp) c.778C>G (p.His260Asp) c.760C>G (p.His254Asp) | |
| 3 | g.69951877C>T | CA353561655 | MITF | c.880C>T (p.His294Tyr) c.877C>T (p.His293Tyr) n.1102C>T c.853C>T (p.His285Tyr) c.946C>T (p.His316Tyr) c.625C>T (p.His209Tyr) c.925C>T (p.His309Tyr) c.928C>T (p.His310Tyr) c.607C>T (p.His203Tyr) c.898C>T (p.His300Tyr) c.772C>T (p.His258Tyr) c.*272C>T (n.*272C>T) c.439C>T (p.His147Tyr) c.790C>T (p.His264Tyr) c.943C>T (p.His315Tyr) c.895C>T (p.His299Tyr) c.778C>T (p.His260Tyr) c.760C>T (p.His254Tyr) | |
| 3 | g.69951878A= | CA1373443575 | MITF | c.881A= (p.His294=) c.878A= (p.His293=) n.1103A= c.854A= (p.His285=) c.947A= (p.His316=) c.626A= (p.His209=) c.926A= (p.His309=) c.929A= (p.His310=) c.608A= (p.His203=) c.899A= (p.His300=) c.773A= (p.His258=) c.*273A= (n.*273A=) c.440A= (p.His147=) c.791A= (p.His264=) c.944A= (p.His315=) c.896A= (p.His299=) c.779A= (p.His260=) c.761A= (p.His254=) | |
| 3 | g.69951878A>C | CA353561657 | MITF | c.881A>C (p.His294Pro) c.878A>C (p.His293Pro) n.1103A>C c.854A>C (p.His285Pro) c.947A>C (p.His316Pro) c.626A>C (p.His209Pro) c.926A>C (p.His309Pro) c.929A>C (p.His310Pro) c.608A>C (p.His203Pro) c.899A>C (p.His300Pro) c.773A>C (p.His258Pro) c.*273A>C (n.*273A>C) c.440A>C (p.His147Pro) c.791A>C (p.His264Pro) c.944A>C (p.His315Pro) c.896A>C (p.His299Pro) c.779A>C (p.His260Pro) c.761A>C (p.His254Pro) | |
| 3 | g.69951878A>G | CA353561659 | MITF | c.881A>G (p.His294Arg) c.878A>G (p.His293Arg) n.1103A>G c.854A>G (p.His285Arg) c.947A>G (p.His316Arg) c.626A>G (p.His209Arg) c.926A>G (p.His309Arg) c.929A>G (p.His310Arg) c.608A>G (p.His203Arg) c.899A>G (p.His300Arg) c.773A>G (p.His258Arg) c.*273A>G (n.*273A>G) c.440A>G (p.His147Arg) c.791A>G (p.His264Arg) c.944A>G (p.His315Arg) c.896A>G (p.His299Arg) c.779A>G (p.His260Arg) c.761A>G (p.His254Arg) | ClinVar dbSNP |
| 3 | g.69951878A>T | CA353561658 | MITF | c.881A>T (p.His294Leu) c.878A>T (p.His293Leu) n.1103A>T c.854A>T (p.His285Leu) c.947A>T (p.His316Leu) c.626A>T (p.His209Leu) c.926A>T (p.His309Leu) c.929A>T (p.His310Leu) c.608A>T (p.His203Leu) c.899A>T (p.His300Leu) c.773A>T (p.His258Leu) c.*273A>T (n.*273A>T) c.440A>T (p.His147Leu) c.791A>T (p.His264Leu) c.944A>T (p.His315Leu) c.896A>T (p.His299Leu) c.779A>T (p.His260Leu) c.761A>T (p.His254Leu) | |
| 3 | g.69951879C>A | CA353561660 | MITF | c.882C>A (p.His294Gln) c.879C>A (p.His293Gln) n.1104C>A c.855C>A (p.His285Gln) c.948C>A (p.His316Gln) c.627C>A (p.His209Gln) c.927C>A (p.His309Gln) c.930C>A (p.His310Gln) c.609C>A (p.His203Gln) c.900C>A (p.His300Gln) c.774C>A (p.His258Gln) c.*274C>A (n.*274C>A) c.441C>A (p.His147Gln) c.792C>A (p.His264Gln) c.945C>A (p.His315Gln) c.897C>A (p.His299Gln) c.780C>A (p.His260Gln) c.762C>A (p.His254Gln) | |
| 3 | g.69951879C>G | CA353561661 | MITF | c.882C>G (p.His294Gln) c.879C>G (p.His293Gln) n.1104C>G c.855C>G (p.His285Gln) c.948C>G (p.His316Gln) c.627C>G (p.His209Gln) c.927C>G (p.His309Gln) c.930C>G (p.His310Gln) c.609C>G (p.His203Gln) c.900C>G (p.His300Gln) c.774C>G (p.His258Gln) c.*274C>G (n.*274C>G) c.441C>G (p.His147Gln) c.792C>G (p.His264Gln) c.945C>G (p.His315Gln) c.897C>G (p.His299Gln) c.780C>G (p.His260Gln) c.762C>G (p.His254Gln) | ClinVar |
| 3 | g.69951879C>T | CA434306299 | MITF | c.882C>T (p.His294=) c.879C>T (p.His293=) n.1104C>T c.855C>T (p.His285=) c.948C>T (p.His316=) c.627C>T (p.His209=) c.927C>T (p.His309=) c.930C>T (p.His310=) c.609C>T (p.His203=) c.900C>T (p.His300=) c.774C>T (p.His258=) c.*274C>T (n.*274C>T) c.441C>T (p.His147=) c.792C>T (p.His264=) c.945C>T (p.His315=) c.897C>T (p.His299=) c.780C>T (p.His260=) c.762C>T (p.His254=) | |
| 3 | g.69951880A>C | CA353561662 | MITF | c.883A>C (p.Asn295His) c.880A>C (p.Asn294His) n.1105A>C c.856A>C (p.Asn286His) c.949A>C (p.Asn317His) c.628A>C (p.Asn210His) c.928A>C (p.Asn310His) c.931A>C (p.Asn311His) c.610A>C (p.Asn204His) c.901A>C (p.Asn301His) c.775A>C (p.Asn259His) c.*275A>C (n.*275A>C) c.442A>C (p.Asn148His) c.793A>C (p.Asn265His) c.946A>C (p.Asn316His) c.898A>C (p.Asn300His) c.781A>C (p.Asn261His) c.763A>C (p.Asn255His) | |
| 3 | g.69951880A>G | CA353561663 | MITF | c.883A>G (p.Asn295Asp) c.880A>G (p.Asn294Asp) n.1105A>G c.856A>G (p.Asn286Asp) c.949A>G (p.Asn317Asp) c.628A>G (p.Asn210Asp) c.928A>G (p.Asn310Asp) c.931A>G (p.Asn311Asp) c.610A>G (p.Asn204Asp) c.901A>G (p.Asn301Asp) c.775A>G (p.Asn259Asp) c.*275A>G (n.*275A>G) c.442A>G (p.Asn148Asp) c.793A>G (p.Asn265Asp) c.946A>G (p.Asn316Asp) c.898A>G (p.Asn300Asp) c.781A>G (p.Asn261Asp) c.763A>G (p.Asn255Asp) | |
| 3 | g.69951880A>T | CA353561664 | MITF | c.883A>T (p.Asn295Tyr) c.880A>T (p.Asn294Tyr) n.1105A>T c.856A>T (p.Asn286Tyr) c.949A>T (p.Asn317Tyr) c.628A>T (p.Asn210Tyr) c.928A>T (p.Asn310Tyr) c.931A>T (p.Asn311Tyr) c.610A>T (p.Asn204Tyr) c.901A>T (p.Asn301Tyr) c.775A>T (p.Asn259Tyr) c.*275A>T (n.*275A>T) c.442A>T (p.Asn148Tyr) c.793A>T (p.Asn265Tyr) c.946A>T (p.Asn316Tyr) c.898A>T (p.Asn300Tyr) c.781A>T (p.Asn261Tyr) c.763A>T (p.Asn255Tyr) | |
| 3 | g.69951881A= | CA1373443578 | MITF | c.884A= (p.Asn295=) c.881A= (p.Asn294=) n.1106A= c.857A= (p.Asn286=) c.950A= (p.Asn317=) c.629A= (p.Asn210=) c.929A= (p.Asn310=) c.932A= (p.Asn311=) c.611A= (p.Asn204=) c.902A= (p.Asn301=) c.776A= (p.Asn259=) c.*276A= (n.*276A=) c.443A= (p.Asn148=) c.794A= (p.Asn265=) c.947A= (p.Asn316=) c.899A= (p.Asn300=) c.782A= (p.Asn261=) c.764A= (p.Asn255=) | |
| 3 | g.69951881A>C | CA353561665 | MITF | c.884A>C (p.Asn295Thr) c.881A>C (p.Asn294Thr) n.1106A>C c.857A>C (p.Asn286Thr) c.950A>C (p.Asn317Thr) c.629A>C (p.Asn210Thr) c.929A>C (p.Asn310Thr) c.932A>C (p.Asn311Thr) c.611A>C (p.Asn204Thr) c.902A>C (p.Asn301Thr) c.776A>C (p.Asn259Thr) c.*276A>C (n.*276A>C) c.443A>C (p.Asn148Thr) c.794A>C (p.Asn265Thr) c.947A>C (p.Asn316Thr) c.899A>C (p.Asn300Thr) c.782A>C (p.Asn261Thr) c.764A>C (p.Asn255Thr) | |
| 3 | g.69951881A>G | CA353561666 | MITF | c.884A>G (p.Asn295Ser) c.881A>G (p.Asn294Ser) n.1106A>G c.857A>G (p.Asn286Ser) c.950A>G (p.Asn317Ser) c.629A>G (p.Asn210Ser) c.929A>G (p.Asn310Ser) c.932A>G (p.Asn311Ser) c.611A>G (p.Asn204Ser) c.902A>G (p.Asn301Ser) c.776A>G (p.Asn259Ser) c.*276A>G (n.*276A>G) c.443A>G (p.Asn148Ser) c.794A>G (p.Asn265Ser) c.947A>G (p.Asn316Ser) c.899A>G (p.Asn300Ser) c.782A>G (p.Asn261Ser) c.764A>G (p.Asn255Ser) | ClinVar dbSNP |
| 3 | g.69951881A>T | CA353561667 | MITF | c.884A>T (p.Asn295Ile) c.881A>T (p.Asn294Ile) n.1106A>T c.857A>T (p.Asn286Ile) c.950A>T (p.Asn317Ile) c.629A>T (p.Asn210Ile) c.929A>T (p.Asn310Ile) c.932A>T (p.Asn311Ile) c.611A>T (p.Asn204Ile) c.902A>T (p.Asn301Ile) c.776A>T (p.Asn259Ile) c.*276A>T (n.*276A>T) c.443A>T (p.Asn148Ile) c.794A>T (p.Asn265Ile) c.947A>T (p.Asn316Ile) c.899A>T (p.Asn300Ile) c.782A>T (p.Asn261Ile) c.764A>T (p.Asn255Ile) | |
| 3 | g.69951882C>A | CA353561668 | MITF | c.885C>A (p.Asn295Lys) c.882C>A (p.Asn294Lys) n.1107C>A c.858C>A (p.Asn286Lys) c.951C>A (p.Asn317Lys) c.630C>A (p.Asn210Lys) c.930C>A (p.Asn310Lys) c.933C>A (p.Asn311Lys) c.612C>A (p.Asn204Lys) c.903C>A (p.Asn301Lys) c.777C>A (p.Asn259Lys) c.*277C>A (n.*277C>A) c.444C>A (p.Asn148Lys) c.795C>A (p.Asn265Lys) c.948C>A (p.Asn316Lys) c.900C>A (p.Asn300Lys) c.783C>A (p.Asn261Lys) c.765C>A (p.Asn255Lys) | gnomAD v4 |
| 3 | g.69951882C= | CA1373443584 | MITF | c.885C= (p.Asn295=) c.882C= (p.Asn294=) n.1107C= c.858C= (p.Asn286=) c.951C= (p.Asn317=) c.630C= (p.Asn210=) c.930C= (p.Asn310=) c.933C= (p.Asn311=) c.612C= (p.Asn204=) c.903C= (p.Asn301=) c.777C= (p.Asn259=) c.*277C= (n.*277C=) c.444C= (p.Asn148=) c.795C= (p.Asn265=) c.948C= (p.Asn316=) c.900C= (p.Asn300=) c.783C= (p.Asn261=) c.765C= (p.Asn255=) | |
| 3 | g.69951882C>G | CA213179 | MITF | c.885C>G (p.Asn295Lys) c.882C>G (p.Asn294Lys) n.1107C>G c.858C>G (p.Asn286Lys) c.951C>G (p.Asn317Lys) c.630C>G (p.Asn210Lys) c.930C>G (p.Asn310Lys) c.933C>G (p.Asn311Lys) c.612C>G (p.Asn204Lys) c.903C>G (p.Asn301Lys) c.777C>G (p.Asn259Lys) c.*277C>G (n.*277C>G) c.444C>G (p.Asn148Lys) c.795C>G (p.Asn265Lys) c.948C>G (p.Asn316Lys) c.900C>G (p.Asn300Lys) c.783C>G (p.Asn261Lys) c.765C>G (p.Asn255Lys) | ClinVar dbSNP |
| 3 | g.69951882C>T | CA434306300 | MITF | c.885C>T (p.Asn295=) c.882C>T (p.Asn294=) n.1107C>T c.858C>T (p.Asn286=) c.951C>T (p.Asn317=) c.630C>T (p.Asn210=) c.930C>T (p.Asn310=) c.933C>T (p.Asn311=) c.612C>T (p.Asn204=) c.903C>T (p.Asn301=) c.777C>T (p.Asn259=) c.*277C>T (n.*277C>T) c.444C>T (p.Asn148=) c.795C>T (p.Asn265=) c.948C>T (p.Asn316=) c.900C>T (p.Asn300=) c.783C>T (p.Asn261=) c.765C>T (p.Asn255=) | dbSNP |
| 3 | g.69951883C>A | CA353561669 | MITF | c.886C>A (p.Leu296Met) c.883C>A (p.Leu295Met) n.1108C>A c.859C>A (p.Leu287Met) c.952C>A (p.Leu318Met) c.631C>A (p.Leu211Met) c.931C>A (p.Leu311Met) c.934C>A (p.Leu312Met) c.613C>A (p.Leu205Met) c.904C>A (p.Leu302Met) c.778C>A (p.Leu260Met) c.*278C>A (n.*278C>A) c.445C>A (p.Leu149Met) c.796C>A (p.Leu266Met) c.949C>A (p.Leu317Met) c.901C>A (p.Leu301Met) c.784C>A (p.Leu262Met) c.766C>A (p.Leu256Met) | |
| 3 | g.69951883C>G | CA353561670 | MITF | c.886C>G (p.Leu296Val) c.883C>G (p.Leu295Val) n.1108C>G c.859C>G (p.Leu287Val) c.952C>G (p.Leu318Val) c.631C>G (p.Leu211Val) c.931C>G (p.Leu311Val) c.934C>G (p.Leu312Val) c.613C>G (p.Leu205Val) c.904C>G (p.Leu302Val) c.778C>G (p.Leu260Val) c.*278C>G (n.*278C>G) c.445C>G (p.Leu149Val) c.796C>G (p.Leu266Val) c.949C>G (p.Leu317Val) c.901C>G (p.Leu301Val) c.784C>G (p.Leu262Val) c.766C>G (p.Leu256Val) | |
| 3 | g.69951883C>T | CA434306301 | MITF | c.886C>T (p.Leu296=) c.883C>T (p.Leu295=) n.1108C>T c.859C>T (p.Leu287=) c.952C>T (p.Leu318=) c.631C>T (p.Leu211=) c.931C>T (p.Leu311=) c.934C>T (p.Leu312=) c.613C>T (p.Leu205=) c.904C>T (p.Leu302=) c.778C>T (p.Leu260=) c.*278C>T (n.*278C>T) c.445C>T (p.Leu149=) c.796C>T (p.Leu266=) c.949C>T (p.Leu317=) c.901C>T (p.Leu301=) c.784C>T (p.Leu262=) c.766C>T (p.Leu256=) | |
| 3 | g.69951884T>A | CA353561673 | MITF | c.887T>A (p.Leu296Gln) c.884T>A (p.Leu295Gln) n.1109T>A c.860T>A (p.Leu287Gln) c.953T>A (p.Leu318Gln) c.632T>A (p.Leu211Gln) c.932T>A (p.Leu311Gln) c.935T>A (p.Leu312Gln) c.614T>A (p.Leu205Gln) c.905T>A (p.Leu302Gln) c.779T>A (p.Leu260Gln) c.*279T>A (n.*279T>A) c.446T>A (p.Leu149Gln) c.797T>A (p.Leu266Gln) c.950T>A (p.Leu317Gln) c.902T>A (p.Leu301Gln) c.785T>A (p.Leu262Gln) c.767T>A (p.Leu256Gln) | |
| 3 | g.69951884T>C | CA353561671 | MITF | c.887T>C (p.Leu296Pro) c.884T>C (p.Leu295Pro) n.1109T>C c.860T>C (p.Leu287Pro) c.953T>C (p.Leu318Pro) c.632T>C (p.Leu211Pro) c.932T>C (p.Leu311Pro) c.935T>C (p.Leu312Pro) c.614T>C (p.Leu205Pro) c.905T>C (p.Leu302Pro) c.779T>C (p.Leu260Pro) c.*279T>C (n.*279T>C) c.446T>C (p.Leu149Pro) c.797T>C (p.Leu266Pro) c.950T>C (p.Leu317Pro) c.902T>C (p.Leu301Pro) c.785T>C (p.Leu262Pro) c.767T>C (p.Leu256Pro) | ClinVar dbSNP |
| 3 | g.69951884T>G | CA353561672 | MITF | c.887T>G (p.Leu296Arg) c.884T>G (p.Leu295Arg) n.1109T>G c.860T>G (p.Leu287Arg) c.953T>G (p.Leu318Arg) c.632T>G (p.Leu211Arg) c.932T>G (p.Leu311Arg) c.935T>G (p.Leu312Arg) c.614T>G (p.Leu205Arg) c.905T>G (p.Leu302Arg) c.779T>G (p.Leu260Arg) c.*279T>G (n.*279T>G) c.446T>G (p.Leu149Arg) c.797T>G (p.Leu266Arg) c.950T>G (p.Leu317Arg) c.902T>G (p.Leu301Arg) c.785T>G (p.Leu262Arg) c.767T>G (p.Leu256Arg) |