Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44379658_44379752del | CA626121680 | ITGA2B | c.1817_1878+33del c.1248_1309+33del n.612_673+33del | gnomAD v2 |
17 | g.44379706T>A | CA399801567 | ITGA2B | c.1861A>T (p.Thr621Ser) c.1292A>T n.656A>T | |
17 | g.44379706T>C | CA399801571 | ITGA2B | c.1861A>G (p.Thr621Ala) c.1292A>G n.656A>G | dbSNP |
17 | g.44379706T>G | CA399801569 | ITGA2B | c.1861A>C (p.Thr621Pro) c.1292A>C n.656A>C | |
17 | g.44379706T= | CA2261367771 | ITGA2B | c.1861A= (p.Thr621=) c.1292A= n.656A= | |
17 | g.44379707G>A | CA500271666 | ITGA2B | c.1860C>T (p.Asp620=) c.1291C>T n.655C>T | dbSNP gnomAD v4 |
17 | g.44379707G>C | CA399801574 | ITGA2B | c.1860C>G (p.Asp620Glu) c.1291C>G n.655C>G | |
17 | g.44379707G= | CA2261367772 | ITGA2B | c.1860C= (p.Asp620=) c.1291C= n.655C= | |
17 | g.44379707G>T | CA399801576 | ITGA2B | c.1860C>A (p.Asp620Glu) c.1291C>A n.655C>A | |
17 | g.44379708T>A | CA399801578 | ITGA2B | c.1859A>T (p.Asp620Val) c.1290A>T n.654A>T | |
17 | g.44379708T>C | CA399801580 | ITGA2B | c.1859A>G (p.Asp620Gly) c.1290A>G n.654A>G | |
17 | g.44379708T>G | CA399801582 | ITGA2B | c.1859A>C (p.Asp620Ala) c.1290A>C n.654A>C | |
17 | g.44379709C>A | CA399801585 | ITGA2B | c.1858G>T (p.Asp620Tyr) c.1289G>T n.653G>T | |
17 | g.44379709C>G | CA399801586 | ITGA2B | c.1858G>C (p.Asp620His) c.1289G>C n.653G>C | |
17 | g.44379709C>T | CA399801587 | ITGA2B | c.1858G>A (p.Asp620Asn) c.1289G>A n.653G>A | |
17 | g.44379710T>A | CA500271677 | ITGA2B | c.1857A>T (p.Gly619=) c.1288A>T n.652A>T | |
17 | g.44379710T>C | CA500271680 | ITGA2B | c.1857A>G (p.Gly619=) c.1288A>G n.652A>G | |
17 | g.44379710T>G | CA500271681 | ITGA2B | c.1857A>C (p.Gly619=) c.1288A>C n.652A>C | |
17 | g.44379711C>A | CA399801589 | ITGA2B | c.1856G>T (p.Gly619Val) c.1287G>T n.651G>T | |
17 | g.44379711C>G | CA399801591 | ITGA2B | c.1856G>C (p.Gly619Ala) c.1287G>C n.651G>C | |
17 | g.44379711C>T | CA399801593 | ITGA2B | c.1856G>A (p.Gly619Glu) c.1287G>A n.651G>A | |
17 | g.44379712del | CA2638217469 | ITGA2B | c.1856del (p.Gly619GlufsTer?) c.1287del n.651del | gnomAD v4 |
17 | g.44379712C>A | CA399801597 | ITGA2B | c.1855G>T (p.Gly619Ter) c.1286G>T n.650G>T | |
17 | g.44379712C>G | CA399801596 | ITGA2B | c.1855G>C (p.Gly619Arg) c.1286G>C n.650G>C | gnomAD v4 |
17 | g.44379712C>T | CA399801595 | ITGA2B | c.1855G>A (p.Gly619Arg) c.1286G>A n.650G>A | |
17 | g.44379713A= | CA2261367773 | ITGA2B | c.1854T= (p.His618=) c.1285T= n.649T= | |
17 | g.44379713A>C | CA399801598 | ITGA2B | c.1854T>G (p.His618Gln) c.1285T>G n.649T>G | |
17 | g.44379713A>G | CA8602926 | ITGA2B | c.1854T>C (p.His618=) c.1285T>C n.649T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379713A>T | CA399801602 | ITGA2B | c.1854T>A (p.His618Gln) c.1285T>A n.649T>A | |
17 | g.44379714T>A | CA399801605 | ITGA2B | c.1853A>T (p.His618Leu) c.1284A>T n.648A>T | |
17 | g.44379714T>C | CA399801607 | ITGA2B | c.1853A>G (p.His618Arg) c.1284A>G n.648A>G | COSMIC |
17 | g.44379714T>G | CA399801609 | ITGA2B | c.1853A>C (p.His618Pro) c.1284A>C n.648A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379714T= | CA2261367774 | ITGA2B | c.1853A= (p.His618=) c.1284A= n.648A= | |
17 | g.44379715G>A | CA399801612 | ITGA2B | c.1852C>T (p.His618Tyr) c.1283C>T n.647C>T | |
17 | g.44379715G>C | CA399801614 | ITGA2B | c.1852C>G (p.His618Asp) c.1283C>G n.647C>G | |
17 | g.44379715G>T | CA399801616 | ITGA2B | c.1852C>A (p.His618Asn) c.1283C>A n.647C>A | |
17 | g.44379716C>A | CA500271716 | ITGA2B | c.1851G>T (p.Leu617=) c.1282G>T n.646G>T | gnomAD v4 |
17 | g.44379716C= | CA2261367775 | ITGA2B | c.1851G= (p.Leu617=) c.1282G= n.646G= | |
17 | g.44379716C>G | CA500271719 | ITGA2B | c.1851G>C (p.Leu617=) c.1282G>C n.646G>C | |
17 | g.44379716C>T | CA8602927 | ITGA2B | c.1851G>A (p.Leu617=) c.1282G>A n.646G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44379717A>C | CA399801620 | ITGA2B | c.1850T>G (p.Leu617Arg) c.1281T>G n.645T>G | |
17 | g.44379717A>G | CA399801622 | ITGA2B | c.1850T>C (p.Leu617Pro) c.1281T>C n.645T>C | |
17 | g.44379717A>T | CA399801625 | ITGA2B | c.1850T>A (p.Leu617Gln) c.1281T>A n.645T>A | |
17 | g.44379718G>A | CA500271727 | ITGA2B | c.1849C>T (p.Leu617=) c.1280C>T n.644C>T | |
17 | g.44379718G>C | CA399801627 | ITGA2B | c.1849C>G (p.Leu617Val) c.1280C>G n.644C>G | |
17 | g.44379718G>T | CA399801629 | ITGA2B | c.1849C>A (p.Leu617Met) c.1280C>A n.644C>A | |
17 | g.44379719C>A | CA500271732 | ITGA2B | c.1848G>T (p.Val616=) c.1279G>T n.643G>T | |
17 | g.44379719C= | CA2261367776 | ITGA2B | c.1848G= (p.Val616=) c.1279G= n.643G= | |
17 | g.44379719C>G | CA500271740 | ITGA2B | c.1848G>C (p.Val616=) c.1279G>C n.643G>C | |
17 | g.44379719C>T | CA8602928 | ITGA2B | c.1848G>A (p.Val616=) c.1279G>A n.643G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |