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.12695535_12695554del | CA2689402666 | TYRP1 | c.406_425del (p.Leu136ProfsTer?) n.595_614del | gnomAD v4 |
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.12695540_12695544del | CA4985222 | TYRP1 | c.411_415del (p.Ser137ArgfsTer?) n.600_604del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.12695540T>A | CA372937008 | TYRP1 | c.411T>A (p.Ser137Arg) n.600T>A | |
9 | g.12695540T>C | CA464021262 | TYRP1 | c.411T>C (p.Ser137=) n.600T>C | gnomAD v4 |
9 | g.12695540T>G | CA372937009 | TYRP1 | c.411T>G (p.Ser137Arg) n.600T>G | |
9 | g.12695541A>C | CA372937010 | TYRP1 | c.412A>C (p.Lys138Gln) n.601A>C | |
9 | g.12695541A>G | CA372937011 | TYRP1 | c.412A>G (p.Lys138Glu) n.601A>G | |
9 | g.12695541A>T | CA372937012 | TYRP1 | c.412A>T (p.Lys138Ter) n.601A>T | |
9 | g.12695542A>C | CA372937013 | TYRP1 | c.413A>C (p.Lys138Thr) n.602A>C | |
9 | g.12695542A>G | CA372937015 | TYRP1 | c.413A>G (p.Lys138Arg) n.602A>G | |
9 | g.12695542A>T | CA372937014 | TYRP1 | c.413A>T (p.Lys138Ile) n.602A>T | |
9 | g.12695543A>C | CA372937016 | TYRP1 | c.414A>C (p.Lys138Asn) n.603A>C | |
9 | g.12695543A>G | CA464021265 | TYRP1 | c.414A>G (p.Lys138=) n.603A>G | ClinVar gnomAD v4 |
9 | g.12695543A>T | CA372937017 | TYRP1 | c.414A>T (p.Lys138Asn) n.603A>T | |
9 | g.12695544G>A | CA4985223 | TYRP1 | c.415G>A (p.Glu139Lys) n.604G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.12695544G>C | CA372937018 | TYRP1 | c.415G>C (p.Glu139Gln) n.604G>C | |
9 | g.12695544G= | CA1834018197 | TYRP1 | c.415G= (p.Glu139=) n.604G= | |
9 | g.12695544G>T | CA372937019 | TYRP1 | c.415G>T (p.Glu139Ter) n.604G>T | |
9 | g.12695544_12695549delinsGAAGAA | CA1834018198 | TYRP1 | c.415_420delinsGAAGAA (p.Glu139=) n.604_609delinsGAAGAA | |
9 | g.12695545A= | CA1834018199 | TYRP1 | c.416A= (p.Glu139=) n.605A= | |
9 | g.12695545A>C | CA372937020 | TYRP1 | c.416A>C (p.Glu139Ala) n.605A>C | |
9 | g.12695545A>G | CA372937021 | TYRP1 | c.416A>G (p.Glu139Gly) n.605A>G | |
9 | g.12695545A>T | CA372937022 | TYRP1 | c.416A>T (p.Glu139Val) n.605A>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.12695550_12695554del | CA4985224 | TYRP1 | c.421_425del (p.Lys141ProfsTer?) n.610_614del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.12695546A= | CA1834018200 | TYRP1 | c.417A= (p.Glu139=) n.606A= | |
9 | g.12695546A>C | CA372937023 | TYRP1 | c.417A>C (p.Glu139Asp) n.606A>C | |
9 | g.12695546A>G | CA464021272 | TYRP1 | c.417A>G (p.Glu139=) n.606A>G | |
9 | g.12695546A>T | CA372937024 | TYRP1 | c.417A>T (p.Glu139Asp) n.606A>T | |
9 | g.12695547G>A | CA372937026 | TYRP1 | c.418G>A (p.Glu140Lys) n.607G>A | |
9 | g.12695547G>C | CA372937025 | TYRP1 | c.418G>C (p.Glu140Gln) n.607G>C | |
9 | g.12695547G= | CA1834018201 | TYRP1 | c.418G= (p.Glu140=) n.607G= | |
9 | g.12695547G>T | CA189306171 | TYRP1 | c.418G>T (p.Glu140Ter) n.607G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.12695547dup | CA860106494 | TYRP1 | c.418dup (p.Glu140GlyfsTer?) n.607dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.12695548A>C | CA372937027 | TYRP1 | c.419A>C (p.Glu140Ala) n.608A>C | |
9 | g.12695548A>G | CA372937029 | TYRP1 | c.419A>G (p.Glu140Gly) n.608A>G | |
9 | g.12695548A>T | CA372937028 | TYRP1 | c.419A>T (p.Glu140Val) n.608A>T | |
9 | g.12695549A>C | CA372937030 | TYRP1 | c.420A>C (p.Glu140Asp) n.609A>C | gnomAD v4 COSMIC |
9 | g.12695549A>G | CA464021274 | TYRP1 | c.420A>G (p.Glu140=) n.609A>G | |
9 | g.12695549A>T | CA372937031 | TYRP1 | c.420A>T (p.Glu140Asp) n.609A>T | |
9 | g.12695549_12695550insT | CA2782943165 | TYRP1 | c.420_421insT (p.Lys141Ter) n.609_610insT | |
9 | g.12695550A>C | CA372937032 | TYRP1 | c.421A>C (p.Lys141Gln) n.610A>C | |
9 | g.12695550A>G | CA372937034 | TYRP1 | c.421A>G (p.Lys141Glu) n.610A>G | |
9 | g.12695550A>T | CA372937033 | TYRP1 | c.421A>T (p.Lys141Ter) n.610A>T | |
9 | g.12695551A= | CA1834018202 | TYRP1 | c.422A= (p.Lys141=) n.611A= | |
9 | g.12695551A>C | CA372937035 | TYRP1 | c.422A>C (p.Lys141Thr) n.611A>C | |
9 | g.12695551A>G | CA372937037 | TYRP1 | c.422A>G (p.Lys141Arg) n.611A>G | dbSNP |