| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.12695515_12695551delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA | CA1834018187 | TYRP1 | c.386_422delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA (p.Val129=) n.575_611delinsTCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAAAA | |
| 9 | g.12695516_12695551del | CA1121430877 | TYRP1 | c.387_422del (p.Arg130_Lys141del) n.576_611del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.12695526C>A | CA372936979 | TYRP1 | c.397C>A (p.Leu133Ile) n.586C>A | gnomAD v4 COSMIC |
| 9 | g.12695526C>G | CA372936980 | TYRP1 | c.397C>G (p.Leu133Val) n.586C>G | |
| 9 | g.12695526C>T | CA372936981 | TYRP1 | c.397C>T (p.Leu133Phe) n.586C>T | |
| 9 | g.12695527T>A | CA372936982 | TYRP1 | c.398T>A (p.Leu133His) n.587T>A | |
| 9 | g.12695527T>C | CA372936983 | TYRP1 | c.398T>C (p.Leu133Pro) n.587T>C | dbSNP |
| 9 | g.12695527T>G | CA372936984 | TYRP1 | c.398T>G (p.Leu133Arg) n.587T>G | |
| 9 | g.12695527T= | CA1834018191 | TYRP1 | c.398T= (p.Leu133=) n.587T= | |
| 9 | g.12695528T>A | CA463857981 | TYRP1 | c.399T>A (p.Leu133=) n.588T>A | |
| 9 | g.12695528T>C | CA463857982 | TYRP1 | c.399T>C (p.Leu133=) n.588T>C | |
| 9 | g.12695528T>G | CA463857983 | TYRP1 | c.399T>G (p.Leu133=) n.588T>G | |
| 9 | g.12695529C>A | CA372936985 | TYRP1 | c.400C>A (p.Leu134Met) n.589C>A | |
| 9 | g.12695529C>G | CA372936986 | TYRP1 | c.400C>G (p.Leu134Val) n.589C>G | |
| 9 | g.12695529C>T | CA463857984 | TYRP1 | c.400C>T (p.Leu134=) n.589C>T | |
| 9 | g.12695530T>A | CA372936988 | TYRP1 | c.401T>A (p.Leu134Gln) n.590T>A | |
| 9 | g.12695530T>C | CA4985219 | TYRP1 | c.401T>C (p.Leu134Pro) n.590T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.12695530T>G | CA372936987 | TYRP1 | c.401T>G (p.Leu134Arg) n.590T>G | |
| 9 | g.12695530T= | CA1834018192 | TYRP1 | c.401T= (p.Leu134=) n.590T= | |
| 9 | g.12695531G>A | CA463857985 | TYRP1 | c.402G>A (p.Leu134=) n.591G>A | |
| 9 | g.12695531G>C | CA463857986 | TYRP1 | c.402G>C (p.Leu134=) n.591G>C | |
| 9 | g.12695531G>T | CA463857987 | TYRP1 | c.402G>T (p.Leu134=) n.591G>T | gnomAD v4 |
| 9 | g.12695532G>A | CA189306151 | TYRP1 | c.403G>A (p.Asp135Asn) n.592G>A | dbSNP |
| 9 | g.12695532G>C | CA372936989 | TYRP1 | c.403G>C (p.Asp135His) n.592G>C | dbSNP gnomAD v4 |
| 9 | g.12695532G= | CA1834018193 | TYRP1 | c.403G= (p.Asp135=) n.592G= | |
| 9 | g.12695532G>T | CA372936990 | TYRP1 | c.403G>T (p.Asp135Tyr) n.592G>T | |
| 9 | g.12695533A>C | CA372936991 | TYRP1 | c.404A>C (p.Asp135Ala) n.593A>C | |
| 9 | g.12695533A>G | CA372936992 | TYRP1 | c.404A>G (p.Asp135Gly) n.593A>G | |
| 9 | g.12695533A>T | CA372936993 | TYRP1 | c.404A>T (p.Asp135Val) n.593A>T | |
| 9 | g.12695534C>A | CA372936994 | TYRP1 | c.405C>A (p.Asp135Glu) n.594C>A | |
| 9 | g.12695534C= | CA1834018194 | TYRP1 | c.405C= (p.Asp135=) n.594C= | |
| 9 | g.12695534C>G | CA189306156 | TYRP1 | c.405C>G (p.Asp135Glu) n.594C>G | dbSNP |
| 9 | g.12695534C>T | CA463857988 | TYRP1 | c.405C>T (p.Asp135=) n.594C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.12695535T>A | CA372936995 | TYRP1 | c.406T>A (p.Leu136Ile) n.595T>A | |
| 9 | g.12695535T>C | CA463857989 | TYRP1 | c.406T>C (p.Leu136=) n.595T>C | |
| 9 | g.12695535T>G | CA372936996 | TYRP1 | c.406T>G (p.Leu136Val) n.595T>G | |
| 9 | g.12695535T= | CA1834018195 | TYRP1 | c.406T= (p.Leu136=) n.595T= | |
| 9 | g.12695535_12695536dup | CA4985220 | TYRP1 | c.406_407dup (p.Leu136PhefsTer2) n.595_596dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.12695535_12695554del | CA2689402666 | TYRP1 | c.406_425del (p.Leu136ProfsTer?) n.595_614del | gnomAD v4 |
| 9 | g.12695536T>A | CA372936999 | TYRP1 | c.407T>A (p.Leu136Ter) n.596T>A | |
| 9 | g.12695536T>C | CA372936998 | TYRP1 | c.407T>C (p.Leu136Ser) n.596T>C | |
| 9 | g.12695536T>G | CA372936997 | TYRP1 | c.407T>G (p.Leu136Ter) n.596T>G | |
| 9 | g.12695536_12695541delinsTAAGTA | CA1834018196 | TYRP1 | c.407_412delinsTAAGTA (p.Leu136=) n.596_601delinsTAAGTA | |
| 9 | g.12695539_12695542dup | CA4985221 | TYRP1 | c.410_413dup (p.Glu139Ter) n.599_602dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.12695537A>C | CA372937000 | TYRP1 | c.408A>C (p.Leu136Phe) n.597A>C | |
| 9 | g.12695537A>G | CA464021259 | TYRP1 | c.408A>G (p.Leu136=) n.597A>G | COSMIC |
| 9 | g.12695537A>T | CA372937001 | TYRP1 | c.408A>T (p.Leu136Phe) n.597A>T | |
| 9 | g.12695540_12695544del | CA4985222 | TYRP1 | c.411_415del (p.Ser137ArgfsTer?) n.600_604del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.12695538A>C | CA372937002 | TYRP1 | c.409A>C (p.Ser137Arg) n.598A>C | |
| 9 | g.12695538A>G | CA372937003 | TYRP1 | c.409A>G (p.Ser137Gly) n.598A>G | gnomAD v4 |