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 |
17 | g.44379720A>C | CA399801631 | ITGA2B | c.1847T>G (p.Val616Gly) c.1278T>G n.642T>G | |
17 | g.44379720A>G | CA399801632 | ITGA2B | c.1847T>C (p.Val616Ala) c.1278T>C n.642T>C | |
17 | g.44379720A>T | CA399801634 | ITGA2B | c.1847T>A (p.Val616Glu) c.1278T>A n.642T>A | |
17 | g.44379721C>A | CA399801637 | ITGA2B | c.1846G>T (p.Val616Leu) c.1277G>T n.641G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44379721C= | CA2261367777 | ITGA2B | c.1846G= (p.Val616=) c.1277G= n.641G= | |
17 | g.44379721C>G | CA399801639 | ITGA2B | c.1846G>C (p.Val616Leu) c.1277G>C n.641G>C | |
17 | g.44379721C>T | CA8602929 | ITGA2B | c.1846G>A (p.Val616Met) c.1277G>A n.641G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379722G>A | CA8602931 | ITGA2B | c.1845C>T (p.Val615=) c.1276C>T n.640C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.44379722G>C | CA500271758 | ITGA2B | c.1845C>G (p.Val615=) c.1276C>G n.640C>G | gnomAD v4 |
17 | g.44379722G= | CA2261367778 | ITGA2B | c.1845C= (p.Val615=) c.1276C= n.640C= | |
17 | g.44379722G>T | CA8602930 | ITGA2B | c.1845C>A (p.Val615=) c.1276C>A n.640C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44379723A>C | CA399801645 | ITGA2B | c.1844T>G (p.Val615Gly) c.1275T>G n.639T>G | |
17 | g.44379723A>G | CA399801647 | ITGA2B | c.1844T>C (p.Val615Ala) c.1275T>C n.639T>C | |
17 | g.44379723A>T | CA399801649 | ITGA2B | c.1844T>A (p.Val615Asp) c.1275T>A n.639T>A | |
17 | g.44379724C>A | CA399801656 | ITGA2B | c.1843G>T (p.Val615Phe) c.1274G>T n.638G>T | |
17 | g.44379724C>G | CA399801654 | ITGA2B | c.1843G>C (p.Val615Leu) c.1274G>C n.638G>C | |
17 | g.44379724C>T | CA399801651 | ITGA2B | c.1843G>A (p.Val615Ile) c.1274G>A n.638G>A | gnomAD v4 |
17 | g.44379725A>C | CA500271772 | ITGA2B | c.1842T>G (p.Ala614=) c.1273T>G n.637T>G | |
17 | g.44379725A>G | CA500271778 | ITGA2B | c.1842T>C (p.Ala614=) c.1273T>C n.637T>C | |
17 | g.44379725A>T | CA500271783 | ITGA2B | c.1842T>A (p.Ala614=) c.1273T>A n.637T>A | |
17 | g.44379726G>A | CA399801659 | ITGA2B | c.1841C>T (p.Ala614Val) c.1272C>T n.636C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44379726G>C | CA399801660 | ITGA2B | c.1841C>G (p.Ala614Gly) c.1272C>G n.636C>G | |
17 | g.44379726G= | CA2261367779 | ITGA2B | c.1841C= (p.Ala614=) c.1272C= n.636C= | |
17 | g.44379726G>T | CA399801662 | ITGA2B | c.1841C>A (p.Ala614Asp) c.1272C>A n.636C>A | |
17 | g.44379727C>A | CA399801664 | ITGA2B | c.1840G>T (p.Ala614Ser) c.1271G>T n.635G>T | |
17 | g.44379727C>G | CA399801665 | ITGA2B | c.1840G>C (p.Ala614Pro) c.1271G>C n.635G>C | |
17 | g.44379727C>T | CA399801667 | ITGA2B | c.1840G>A (p.Ala614Thr) c.1271G>A n.635G>A | |
17 | g.44379728A>C | CA500271800 | ITGA2B | c.1839T>G (p.Pro613=) c.1270T>G n.634T>G | |
17 | g.44379728A>G | CA500271802 | ITGA2B | c.1839T>C (p.Pro613=) c.1270T>C n.634T>C | |
17 | g.44379728A>T | CA500271804 | ITGA2B | c.1839T>A (p.Pro613=) c.1270T>A n.634T>A | |
17 | g.44379729G>A | CA290949585 | ITGA2B | c.1838C>T (p.Pro613Leu) c.1269C>T n.633C>T | dbSNP |
17 | g.44379729G>C | CA399801669 | ITGA2B | c.1838C>G (p.Pro613Arg) c.1269C>G n.633C>G | |
17 | g.44379729G= | CA2261367780 | ITGA2B | c.1838C= (p.Pro613=) c.1269C= n.633C= | |
17 | g.44379729G>T | CA399801671 | ITGA2B | c.1838C>A (p.Pro613His) c.1269C>A n.633C>A | gnomAD v4 |
17 | g.44379730G>A | CA399801674 | ITGA2B | c.1837C>T (p.Pro613Ser) c.1268C>T n.632C>T | gnomAD v4 |
17 | g.44379730G>C | CA399801676 | ITGA2B | c.1837C>G (p.Pro613Ala) c.1268C>G n.632C>G | |
17 | g.44379730G>T | CA399801678 | ITGA2B | c.1837C>A (p.Pro613Thr) c.1268C>A n.632C>A | |
17 | g.44379731G>A | CA500271823 | ITGA2B | c.1836C>T (p.Ala612=) c.1267C>T n.631C>T | |
17 | g.44379731G>C | CA500271826 | ITGA2B | c.1836C>G (p.Ala612=) c.1267C>G n.631C>G | |
17 | g.44379731G>T | CA500271827 | ITGA2B | c.1836C>A (p.Ala612=) c.1267C>A n.631C>A | |
17 | g.44379732G>A | CA399801685 | ITGA2B | c.1835C>T (p.Ala612Val) c.1266C>T n.630C>T | |
17 | g.44379732G>C | CA399801683 | ITGA2B | c.1835C>G (p.Ala612Gly) c.1266C>G n.630C>G | |
17 | g.44379732G= | CA2261367781 | ITGA2B | c.1835C= (p.Ala612=) c.1266C= n.630C= | |
17 | g.44379732G>T | CA399801681 | ITGA2B | c.1835C>A (p.Ala612Asp) c.1266C>A n.630C>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44379733C>A | CA399801688 | ITGA2B | c.1834G>T (p.Ala612Ser) c.1265G>T n.629G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44379733C= | CA2261367782 | ITGA2B | c.1834G= (p.Ala612=) c.1265G= n.629G= | |
17 | g.44379733C>G | CA399801692 | ITGA2B | c.1834G>C (p.Ala612Pro) c.1265G>C n.629G>C | |
17 | g.44379733C>T | CA399801690 | ITGA2B | c.1834G>A (p.Ala612Thr) c.1265G>A n.629G>A | |
17 | g.44379734C>A | CA399801694 | ITGA2B | c.1833G>T (p.Met611Ile) c.1264G>T n.628G>T | |
17 | g.44379734C= | CA2261367783 | ITGA2B | c.1833G= (p.Met611=) c.1264G= n.628G= | |
17 | g.44379734C>G | CA399801698 | ITGA2B | c.1833G>C (p.Met611Ile) c.1264G>C n.628G>C | |
17 | g.44379734C>T | CA8602932 | ITGA2B | c.1833G>A (p.Met611Ile) c.1264G>A n.628G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.44379735A= | CA2261367784 | ITGA2B | c.1832T= (p.Met611=) c.1263T= n.627T= | |
17 | g.44379735A>C | CA399801701 | ITGA2B | c.1832T>G (p.Met611Arg) c.1263T>G n.627T>G | |
17 | g.44379735A>G | CA399801705 | ITGA2B | c.1832T>C (p.Met611Thr) c.1263T>C n.627T>C | dbSNP |
17 | g.44379735A>T | CA399801703 | ITGA2B | c.1832T>A (p.Met611Lys) c.1263T>A n.627T>A | |
17 | g.44379736T>A | CA399801708 | ITGA2B | c.1831A>T (p.Met611Leu) c.1262A>T n.626A>T | |
17 | g.44379736T>C | CA8602933 | ITGA2B | c.1831A>G (p.Met611Val) c.1262A>G n.626A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379736T>G | CA399801710 | ITGA2B | c.1831A>C (p.Met611Leu) c.1262A>C n.626A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44379736T= | CA2261367785 | ITGA2B | c.1831A= (p.Met611=) c.1262A= n.626A= | |
17 | g.44379737T>A | CA500271855 | ITGA2B | c.1830A>T (p.Gly610=) c.1261A>T n.625A>T | |
17 | g.44379737T>C | CA500271857 | ITGA2B | c.1830A>G (p.Gly610=) c.1261A>G n.625A>G | |
17 | g.44379737T>G | CA500271860 | ITGA2B | c.1830A>C (p.Gly610=) c.1261A>C n.625A>C | |
17 | g.44379738C>A | CA399801712 | ITGA2B | c.1829G>T (p.Gly610Val) c.1260G>T n.624G>T | gnomAD v4 |
17 | g.44379738C>G | CA399801714 | ITGA2B | c.1829G>C (p.Gly610Ala) c.1260G>C n.624G>C | |
17 | g.44379738C>T | CA399801716 | ITGA2B | c.1829G>A (p.Gly610Glu) c.1260G>A n.624G>A | gnomAD v4 |
17 | g.44379739C>A | CA399801720 | ITGA2B | c.1828G>T (p.Gly610Ter) c.1259G>T n.623G>T | |
17 | g.44379739C= | CA2261367786 | ITGA2B | c.1828G= (p.Gly610=) c.1259G= n.623G= | |
17 | g.44379739C>G | CA399801722 | ITGA2B | c.1828G>C (p.Gly610Arg) c.1259G>C n.623G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44379739C>T | CA8602934 | ITGA2B | c.1828G>A (p.Gly610Arg) c.1259G>A n.623G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44379740A= | CA2261367787 | ITGA2B | c.1827T= (p.Ala609=) c.1258T= n.622T= | |
17 | g.44379740A>C | CA500271876 | ITGA2B | c.1827T>G (p.Ala609=) c.1258T>G n.622T>G | |
17 | g.44379740A>G | CA500271879 | ITGA2B | c.1827T>C (p.Ala609=) c.1258T>C n.622T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44379740A>T | CA500271873 | ITGA2B | c.1827T>A (p.Ala609=) c.1258T>A n.622T>A | |
17 | g.44379741G>A | CA399801726 | ITGA2B | c.1826C>T (p.Ala609Val) c.1257C>T n.621C>T | |
17 | g.44379741G>C | CA399801729 | ITGA2B | c.1826C>G (p.Ala609Gly) c.1257C>G n.621C>G | |
17 | g.44379741G>T | CA399801731 | ITGA2B | c.1826C>A (p.Ala609Asp) c.1257C>A n.621C>A | |
17 | g.44379742C>A | CA399801734 | ITGA2B | c.1825G>T (p.Ala609Ser) c.1256G>T n.620G>T | |
17 | g.44379742C>G | CA399801738 | ITGA2B | c.1825G>C (p.Ala609Pro) c.1256G>C n.620G>C | |
17 | g.44379742C>T | CA399801736 | ITGA2B | c.1825G>A (p.Ala609Thr) c.1256G>A n.620G>A | |
17 | g.44379743C>A | CA399801741 | ITGA2B | c.1824G>T (p.Glu608Asp) c.1255G>T n.619G>T | |
17 | g.44379743C>G | CA399801743 | ITGA2B | c.1824G>C (p.Glu608Asp) c.1255G>C n.619G>C | |
17 | g.44379743C>T | CA500271896 | ITGA2B | c.1824G>A (p.Glu608=) c.1255G>A n.619G>A | gnomAD v4 |
17 | g.44379744T>A | CA399801746 | ITGA2B | c.1823A>T (p.Glu608Val) c.1254A>T n.618A>T | |
17 | g.44379744T>C | CA399801748 | ITGA2B | c.1823A>G (p.Glu608Gly) c.1254A>G n.618A>G | |
17 | g.44379744T>G | CA399801750 | ITGA2B | c.1823A>C (p.Glu608Ala) c.1254A>C n.618A>C | |
17 | g.44379745C>A | CA399801753 | ITGA2B | c.1822G>T (p.Glu608Ter) c.1253G>T n.617G>T | |
17 | g.44379745C>G | CA399801755 | ITGA2B | c.1822G>C (p.Glu608Gln) c.1253G>C n.617G>C | |
17 | g.44379745C>T | CA399801757 | ITGA2B | c.1822G>A (p.Glu608Lys) c.1253G>A n.617G>A | |
17 | g.44379746C>A | CA500271904 | ITGA2B | c.1821G>T (p.Thr607=) c.1252G>T n.616G>T | |
17 | g.44379746C= | CA2261367788 | ITGA2B | c.1821G= (p.Thr607=) c.1252G= n.616G= | |
17 | g.44379746C>G | CA500271907 | ITGA2B | c.1821G>C (p.Thr607=) c.1252G>C n.616G>C | |
17 | g.44379746C>T | CA8602935 | ITGA2B | c.1821G>A (p.Thr607=) c.1252G>A n.616G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379747G>A | CA8602936 | ITGA2B | c.1820C>T (p.Thr607Met) c.1251C>T n.615C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.44379747G>C | CA399801763 | ITGA2B | c.1820C>G (p.Thr607Arg) c.1251C>G n.615C>G | |
17 | g.44379747G= | CA2261367789 | ITGA2B | c.1820C= (p.Thr607=) c.1251C= n.615C= | |
17 | g.44379747G>T | CA399801761 | ITGA2B | c.1820C>A (p.Thr607Lys) c.1251C>A n.615C>A | |
17 | g.44379748T>A | CA399801766 | ITGA2B | c.1819A>T (p.Thr607Ser) c.1250A>T n.614A>T | |
17 | g.44379748T>C | CA399801767 | ITGA2B | c.1819A>G (p.Thr607Ala) c.1250A>G n.614A>G | |
17 | g.44379748T>G | CA399801769 | ITGA2B | c.1819A>C (p.Thr607Pro) c.1250A>C n.614A>C | |
17 | g.44379749G>A | CA8602937 | ITGA2B | c.1818C>T (p.Pro606=) c.1249C>T n.613C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44379749G>C | CA500271921 | ITGA2B | c.1818C>G (p.Pro606=) c.1249C>G n.613C>G | |
17 | g.44379749G= | CA2261367790 | ITGA2B | c.1818C= (p.Pro606=) c.1249C= n.613C= | |
17 | g.44379749G>T | CA500271923 | ITGA2B | c.1818C>A (p.Pro606=) c.1249C>A n.613C>A | |
17 | g.44379750G>A | CA399801773 | ITGA2B | c.1817C>T (p.Pro606Leu) c.1248C>T n.612C>T | dbSNP gnomAD v2 |
17 | g.44379750G>C | CA399801775 | ITGA2B | c.1817C>G (p.Pro606Arg) c.1248C>G n.612C>G | |
17 | g.44379750G= | CA2261367791 | ITGA2B | c.1817C= (p.Pro606=) c.1248C= n.612C= | |
17 | g.44379750G>T | CA399801777 | ITGA2B | c.1817C>A (p.Pro606His) c.1248C>A n.612C>A | |
17 | g.44379751G>A | CA399801780 | ITGA2B | c.1816C>T (p.Pro606Ser) c.1247C>T n.611C>T | |
17 | g.44379751G>C | CA399801782 | ITGA2B | c.1816C>G (p.Pro606Ala) c.1247C>G n.611C>G | |
17 | g.44379751G>T | CA399801784 | ITGA2B | c.1816C>A (p.Pro606Thr) c.1247C>A n.611C>A | |
17 | g.44379752C>A | CA500271934 | ITGA2B | c.1815G>T (p.Pro605=) c.1246G>T n.610G>T | |
17 | g.44379752C= | CA2261367792 | ITGA2B | c.1815G= (p.Pro605=) c.1246G= n.610G= | |
17 | g.44379752C>G | CA8602939 | ITGA2B | c.1815G>C (p.Pro605=) c.1246G>C n.610G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379752C>T | CA8602938 | ITGA2B | c.1815G>A (p.Pro605=) c.1246G>A n.610G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379753G>A | CA8602940 | ITGA2B | c.1814C>T (p.Pro605Leu) c.1245C>T n.609C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.44379753G>C | CA399801789 | ITGA2B | c.1814C>G (p.Pro605Arg) c.1245C>G n.609C>G | |
17 | g.44379753G= | CA2261367793 | ITGA2B | c.1814C= (p.Pro605=) c.1245C= n.609C= | |
17 | g.44379753G>T | CA399801791 | ITGA2B | c.1814C>A (p.Pro605Gln) c.1245C>A n.609C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44379754G>A | CA399801795 | ITGA2B | c.1813C>T (p.Pro605Ser) c.1244C>T n.608C>T | |
17 | g.44379754G>C | CA399801797 | ITGA2B | c.1813C>G (p.Pro605Ala) c.1244C>G n.608C>G | |
17 | g.44379754G>T | CA399801800 | ITGA2B | c.1813C>A (p.Pro605Thr) c.1244C>A n.608C>A | |
17 | g.44379755T>A | CA500271954 | ITGA2B | c.1812A>T (p.Leu604=) c.1243A>T n.607A>T | |
17 | g.44379755T>C | CA500271958 | ITGA2B | c.1812A>G (p.Leu604=) c.1243A>G n.607A>G | gnomAD v4 |
17 | g.44379755T>G | CA500271960 | ITGA2B | c.1812A>C (p.Leu604=) c.1243A>C n.607A>C | |
17 | g.44379756A>C | CA399801803 | ITGA2B | c.1811T>G (p.Leu604Arg) c.1242T>G n.606T>G | |
17 | g.44379756A>G | CA399801805 | ITGA2B | c.1811T>C (p.Leu604Pro) c.1242T>C n.606T>C | gnomAD v4 |
17 | g.44379756A>T | CA399801807 | ITGA2B | c.1811T>A (p.Leu604Gln) c.1242T>A n.606T>A | |
17 | g.44379756_44379757delinsAG | CA2261367794 | ITGA2B | c.1810_1811delinsCT (p.Leu604=) c.1241_1242delinsCT n.605_606delinsCT | |
17 | g.44379757G>A | CA500271971 | ITGA2B | c.1810C>T (p.Leu604=) c.1241C>T n.605C>T | |
17 | g.44379757G>C | CA399801809 | ITGA2B | c.1810C>G (p.Leu604Val) c.1241C>G n.605C>G | |
17 | g.44379757G>T | CA399801811 | ITGA2B | c.1810C>A (p.Leu604Ile) c.1241C>A n.605C>A | |
17 | g.44379759del | CA2261367795 | ITGA2B | c.1810del (p.Leu604TyrfsTer?) c.1241del n.605del | dbSNP |
17 | g.44379758G>A | CA500271975 | ITGA2B | c.1809C>T (p.Ser603=) c.1240C>T n.604C>T | COSMIC |
17 | g.44379758G>C | CA500271979 | ITGA2B | c.1809C>G (p.Ser603=) c.1240C>G n.604C>G | |
17 | g.44379758G>T | CA500271981 | ITGA2B | c.1809C>A (p.Ser603=) c.1240C>A n.604C>A | |
17 | g.44379759G>A | CA399801814 | ITGA2B | c.1808C>T (p.Ser603Phe) c.1239C>T n.603C>T | COSMIC |
17 | g.44379759G>C | CA399801817 | ITGA2B | c.1808C>G (p.Ser603Cys) c.1239C>G n.603C>G | |
17 | g.44379759G>T | CA399801818 | ITGA2B | c.1808C>A (p.Ser603Tyr) c.1239C>A n.603C>A | |
17 | g.44379760A>C | CA399801823 | ITGA2B | c.1807T>G (p.Ser603Ala) c.1238T>G n.602T>G | |
17 | g.44379760A>G | CA399801822 | ITGA2B | c.1807T>C (p.Ser603Pro) c.1238T>C n.602T>C | |
17 | g.44379760A>T | CA399801820 | ITGA2B | c.1807T>A (p.Ser603Thr) c.1238T>A n.602T>A | |
17 | g.44379761C>A | CA500271992 | ITGA2B | c.1806G>T (p.Val602=) c.1237G>T n.601G>T | |
17 | g.44379761C>G | CA500271996 | ITGA2B | c.1806G>C (p.Val602=) c.1237G>C n.601G>C | |
17 | g.44379761C>T | CA500271994 | ITGA2B | c.1806G>A (p.Val602=) c.1237G>A n.601G>A | |
17 | g.44379762A>C | CA399801827 | ITGA2B | c.1805T>G (p.Val602Gly) c.1236T>G n.600T>G | |
17 | g.44379762A>G | CA399801829 | ITGA2B | c.1805T>C (p.Val602Ala) c.1236T>C n.600T>C | gnomAD v4 |
17 | g.44379762A>T | CA399801832 | ITGA2B | c.1805T>A (p.Val602Glu) c.1236T>A n.600T>A | |
17 | g.44379763C>A | CA399801834 | ITGA2B | c.1804G>T (p.Val602Leu) c.1235G>T n.599G>T | |
17 | g.44379763C>G | CA399801836 | ITGA2B | c.1804G>C (p.Val602Leu) c.1235G>C n.599G>C | |
17 | g.44379763C>T | CA399801838 | ITGA2B | c.1804G>A (p.Val602Met) c.1235G>A n.599G>A | |
17 | g.44379764A>C | CA399801840 | ITGA2B | c.1803T>G (p.Asn601Lys) c.1234T>G n.598T>G | gnomAD v4 |
17 | g.44379764A>G | CA500272012 | ITGA2B | c.1803T>C (p.Asn601=) c.1234T>C n.598T>C | |
17 | g.44379764A>T | CA399801842 | ITGA2B | c.1803T>A (p.Asn601Lys) c.1234T>A n.598T>A | |
17 | g.44379765T>A | CA399801844 | ITGA2B | c.1802A>T (p.Asn601Ile) c.1233A>T n.597A>T | |
17 | g.44379765T>C | CA399801848 | ITGA2B | c.1802A>G (p.Asn601Ser) c.1233A>G n.597A>G | gnomAD v4 |
17 | g.44379765T>G | CA399801846 | ITGA2B | c.1802A>C (p.Asn601Thr) c.1233A>C n.597A>C | |
17 | g.44379766T>A | CA399801851 | ITGA2B | c.1801A>T (p.Asn601Tyr) c.1232A>T n.596A>T | |
17 | g.44379766T>C | CA399801853 | ITGA2B | c.1801A>G (p.Asn601Asp) c.1232A>G n.596A>G | |
17 | g.44379766T>G | CA399801855 | ITGA2B | c.1801A>C (p.Asn601His) c.1232A>C n.596A>C | |
17 | g.44379767G>A | CA290949638 | ITGA2B | c.1800C>T (p.Leu600=) c.1231C>T n.595C>T | dbSNP gnomAD v4 |
17 | g.44379767G>C | CA500272027 | ITGA2B | c.1800C>G (p.Leu600=) c.1231C>G n.595C>G | dbSNP gnomAD v4 |
17 | g.44379767G= | CA2261367796 | ITGA2B | c.1800C= (p.Leu600=) c.1231C= n.595C= | |
17 | g.44379767G>T | CA500272028 | ITGA2B | c.1800C>A (p.Leu600=) c.1231C>A n.595C>A | |
17 | g.44379768A>C | CA399801859 | ITGA2B | c.1799T>G (p.Leu600Arg) c.1230T>G n.594T>G | |
17 | g.44379768A>G | CA399801863 | ITGA2B | c.1799T>C (p.Leu600Pro) c.1230T>C n.594T>C | |
17 | g.44379768A>T | CA399801861 | ITGA2B | c.1799T>A (p.Leu600His) c.1230T>A n.594T>A | |
17 | g.44379769G>A | CA290949639 | ITGA2B | c.1798C>T (p.Leu600Phe) c.1229C>T n.593C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44379769G>C | CA399801866 | ITGA2B | c.1798C>G (p.Leu600Val) c.1229C>G n.593C>G | |
17 | g.44379769G= | CA2261367797 | ITGA2B | c.1798C= (p.Leu600=) c.1229C= n.593C= | |
17 | g.44379769G>T | CA399801868 | ITGA2B | c.1798C>A (p.Leu600Ile) c.1229C>A n.593C>A | |
17 | g.44379770G>A | CA500272034 | ITGA2B | c.1797C>T (p.Ser599=) c.1228C>T n.592C>T | |
17 | g.44379770G>C | CA399801872 | ITGA2B | c.1797C>G (p.Ser599Arg) c.1228C>G n.592C>G | |
17 | g.44379770G>T | CA399801873 | ITGA2B | c.1797C>A (p.Ser599Arg) c.1228C>A n.592C>A | |
17 | g.44379771C>A | CA399801874 | ITGA2B | c.1796G>T (p.Ser599Ile) c.1227G>T n.591G>T | |
17 | g.44379771C>G | CA399801875 | ITGA2B | c.1796G>C (p.Ser599Thr) c.1227G>C n.591G>C | |
17 | g.44379771C>T | CA399801876 | ITGA2B | c.1796G>A (p.Ser599Asn) c.1227G>A n.591G>A | |
17 | g.44379772T>A | CA399801877 | ITGA2B | c.1795A>T (p.Ser599Cys) c.1226A>T n.590A>T | |
17 | g.44379772T>C | CA399801878 | ITGA2B | c.1795A>G (p.Ser599Gly) c.1226A>G n.590A>G | gnomAD v4 |
17 | g.44379772T>G | CA399801879 | ITGA2B | c.1795A>C (p.Ser599Arg) c.1226A>C n.590A>C | |
17 | g.44379773G>A | CA500272056 | ITGA2B | c.1794C>T (p.Leu598=) c.1225C>T n.589C>T | dbSNP |
17 | g.44379773G>C | CA500272052 | ITGA2B | c.1794C>G (p.Leu598=) c.1225C>G n.589C>G | |
17 | g.44379773G= | CA2261367798 | ITGA2B | c.1794C= (p.Leu598=) c.1225C= n.589C= | |
17 | g.44379773G>T | CA500272055 | ITGA2B | c.1794C>A (p.Leu598=) c.1225C>A n.589C>A | gnomAD v4 |
17 | g.44379774A>C | CA399801880 | ITGA2B | c.1793T>G (p.Leu598Arg) c.1224T>G n.588T>G | |
17 | g.44379774A>G | CA399801882 | ITGA2B | c.1793T>C (p.Leu598Pro) c.1224T>C n.588T>C | ClinVar |
17 | g.44379774A>T | CA399801881 | ITGA2B | c.1793T>A (p.Leu598His) c.1224T>A n.588T>A | |
17 | g.44379775G>A | CA399801883 | ITGA2B | c.1792C>T (p.Leu598Phe) c.1223C>T n.587C>T | |
17 | g.44379775G>C | CA399801884 | ITGA2B | c.1792C>G (p.Leu598Val) c.1223C>G n.587C>G | |
17 | g.44379775G= | CA2261367799 | ITGA2B | c.1792C= (p.Leu598=) c.1223C= n.587C= | |
17 | g.44379775G>T | CA399801885 | ITGA2B | c.1792C>A (p.Leu598Ile) c.1223C>A n.587C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44379776C>A | CA500272067 | ITGA2B | c.1791G>T (p.Val597=) c.1222G>T n.586G>T | |
17 | g.44379776C>G | CA500272069 | ITGA2B | c.1791G>C (p.Val597=) c.1222G>C n.586G>C | |
17 | g.44379776C>T | CA500272071 | ITGA2B | c.1791G>A (p.Val597=) c.1222G>A n.586G>A | |
17 | g.44379777A>C | CA399801886 | ITGA2B | c.1790T>G (p.Val597Gly) c.1221T>G n.585T>G | |
17 | g.44379777A>G | CA399801887 | ITGA2B | c.1790T>C (p.Val597Ala) c.1221T>C n.585T>C | |
17 | g.44379777A>T | CA399801888 | ITGA2B | c.1790T>A (p.Val597Glu) c.1221T>A n.585T>A | COSMIC |
17 | g.44379778C>A | CA399801889 | ITGA2B | c.1789G>T (p.Val597Leu) c.1220G>T n.584G>T | |
17 | g.44379778C= | CA2261367800 | ITGA2B | c.1789G= (p.Val597=) c.1220G= n.584G= | |
17 | g.44379778C>G | CA399801890 | ITGA2B | c.1789G>C (p.Val597Leu) c.1220G>C n.584G>C | |
17 | g.44379778C>T | CA399801891 | ITGA2B | c.1789G>A (p.Val597Met) c.1220G>A n.584G>A | dbSNP |
17 | g.44379779A>C | CA399801892 | ITGA2B | c.1788T>G (p.Ile596Met) c.1219T>G n.583T>G | |
17 | g.44379779A>G | CA500272083 | ITGA2B | c.1788T>C (p.Ile596=) c.1219T>C n.583T>C | gnomAD v4 |
17 | g.44379779A>T | CA500272086 | ITGA2B | c.1788T>A (p.Ile596=) c.1219T>A n.583T>A | |
17 | g.44379780del | CA2638217484 | ITGA2B | c.1788del (p.Ile596MetfsTer?) c.1219del n.583del | ClinVar gnomAD v4 |
17 | g.44379780A= | CA2261367801 | ITGA2B | c.1787T= (p.Ile596=) c.1218T= n.582T= | |
17 | g.44379780A>C | CA399801893 | ITGA2B | c.1787T>G (p.Ile596Ser) c.1218T>G n.582T>G | |
17 | g.44379780A>G | CA115846 | ITGA2B | c.1787T>C (p.Ile596Thr) c.1218T>C n.582T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379780A>T | CA399801894 | ITGA2B | c.1787T>A (p.Ile596Asn) c.1218T>A n.582T>A | dbSNP |
17 | g.44379781T>A | CA399801895 | ITGA2B | c.1786A>T (p.Ile596Phe) c.1217A>T n.581A>T | |
17 | g.44379781T>C | CA399801897 | ITGA2B | c.1786A>G (p.Ile596Val) c.1217A>G n.581A>G | dbSNP gnomAD v4 |
17 | g.44379781T>G | CA399801896 | ITGA2B | c.1786A>C (p.Ile596Leu) c.1217A>C n.581A>C | |
17 | g.44379781T= | CA2261367802 | ITGA2B | c.1786A= (p.Ile596=) c.1217A= n.581A= | |
17 | g.44379782G>A | CA500272104 | ITGA2B | c.1785C>T (p.Pro595=) c.1216C>T n.580C>T | gnomAD v4 |
17 | g.44379782G>C | CA500272107 | ITGA2B | c.1785C>G (p.Pro595=) c.1216C>G n.580C>G | |
17 | g.44379782G>T | CA500272111 | ITGA2B | c.1785C>A (p.Pro595=) c.1216C>A n.580C>A | |
17 | g.44379783G>A | CA399801898 | ITGA2B | c.1784C>T (p.Pro595Leu) c.1215C>T n.579C>T | |
17 | g.44379783G>C | CA399801899 | ITGA2B | c.1784C>G (p.Pro595Arg) c.1215C>G n.579C>G | |
17 | g.44379783G>T | CA399801900 | ITGA2B | c.1784C>A (p.Pro595His) c.1215C>A n.579C>A | |
17 | g.44379784G>A | CA399801901 | ITGA2B | c.1783C>T (p.Pro595Ser) c.1214C>T n.578C>T | |
17 | g.44379784G>C | CA399801902 | ITGA2B | c.1783C>G (p.Pro595Ala) c.1214C>G n.578C>G | gnomAD v4 |
17 | g.44379784G>T | CA399801903 | ITGA2B | c.1783C>A (p.Pro595Thr) c.1214C>A n.578C>A | |
17 | g.44379785G>A | CA500272125 | ITGA2B | c.1782C>T (p.Ser594=) c.1213C>T n.577C>T | gnomAD v4 COSMIC |
17 | g.44379785G>C | CA399801904 | ITGA2B | c.1782C>G (p.Ser594Arg) c.1213C>G n.577C>G | |
17 | g.44379785G>T | CA399801905 | ITGA2B | c.1782C>A (p.Ser594Arg) c.1213C>A n.577C>A | |
17 | g.44379786C>A | CA399801906 | ITGA2B | c.1781G>T (p.Ser594Ile) c.1212G>T n.576G>T | |
17 | g.44379786C>G | CA399801907 | ITGA2B | c.1781G>C (p.Ser594Thr) c.1212G>C n.576G>C | |
17 | g.44379786C>T | CA399801908 | ITGA2B | c.1781G>A (p.Ser594Asn) c.1212G>A n.576G>A | gnomAD v4 |
17 | g.44379787T>A | CA399801910 | ITGA2B | c.1780A>T (p.Ser594Cys) c.1211A>T n.575A>T | |
17 | g.44379787T>C | CA399801911 | ITGA2B | c.1780A>G (p.Ser594Gly) c.1211A>G n.575A>G | |
17 | g.44379787T>G | CA399801909 | ITGA2B | c.1780A>C (p.Ser594Arg) c.1211A>C n.575A>C | |
17 | g.44379788C>A | CA500272137 | ITGA2B | c.1779G>T (p.Leu593=) c.1210G>T n.574G>T | |
17 | g.44379788C= | CA2261367803 | ITGA2B | c.1779G= (p.Leu593=) c.1210G= n.574G= | |
17 | g.44379788C>G | CA8602941 | ITGA2B | c.1779G>C (p.Leu593=) c.1210G>C n.574G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44379788C>T | CA500272139 | ITGA2B | c.1779G>A (p.Leu593=) c.1210G>A n.574G>A | |
17 | g.44379789A>C | CA399801912 | ITGA2B | c.1778T>G (p.Leu593Arg) c.1209T>G n.573T>G | |
17 | g.44379789A>G | CA399801913 | ITGA2B | c.1778T>C (p.Leu593Pro) c.1209T>C n.573T>C | |
17 | g.44379789A>T | CA399801914 | ITGA2B | c.1778T>A (p.Leu593Gln) c.1209T>A n.573T>A | |
17 | g.44379790G>A | CA500272147 | ITGA2B | c.1777C>T (p.Leu593=) c.1208C>T n.572C>T | gnomAD v4 |
17 | g.44379790G>C | CA290949643 | ITGA2B | c.1777C>G (p.Leu593Val) c.1208C>G n.572C>G | dbSNP gnomAD v2 |
17 | g.44379790G= | CA2261367804 | ITGA2B | c.1777C= (p.Leu593=) c.1208C= n.572C= | |
17 | g.44379790G>T | CA399801915 | ITGA2B | c.1777C>A (p.Leu593Met) c.1208C>A n.572C>A | |
17 | g.44379791C>A | CA290949646 | ITGA2B | c.1776G>T (p.Lys592Asn) c.1207G>T n.571G>T | dbSNP |
17 | g.44379791C= | CA2261367805 | ITGA2B | c.1776G= (p.Lys592=) c.1207G= n.571G= | |
17 | g.44379791C>G | CA399801916 | ITGA2B | c.1776G>C (p.Lys592Asn) c.1207G>C n.571G>C | |
17 | g.44379791C>T | CA500272167 | ITGA2B | c.1776G>A (p.Lys592=) c.1207G>A n.571G>A | |
17 | g.44379792T>A | CA399801917 | ITGA2B | c.1775A>T (p.Lys592Met) c.1206A>T n.570A>T | |
17 | g.44379792T>C | CA399801918 | ITGA2B | c.1775A>G (p.Lys592Arg) c.1206A>G n.570A>G | |
17 | g.44379792T>G | CA399801919 | ITGA2B | c.1775A>C (p.Lys592Thr) c.1206A>C n.570A>C | |
17 | g.44379793T>A | CA399801920 | ITGA2B | c.1774A>T (p.Lys592Ter) c.1205A>T n.569A>T | |
17 | g.44379793T>C | CA399801921 | ITGA2B | c.1774A>G (p.Lys592Glu) c.1205A>G n.569A>G | gnomAD v4 |
17 | g.44379793T>G | CA399801922 | ITGA2B | c.1774A>C (p.Lys592Gln) c.1205A>C n.569A>C | |
17 | g.44379794G>A | CA500272195 | ITGA2B | c.1773C>T (p.Asp591=) c.1204C>T n.568C>T | |
17 | g.44379794G>C | CA399801924 | ITGA2B | c.1773C>G (p.Asp591Glu) c.1204C>G n.568C>G | dbSNP gnomAD v4 |
17 | g.44379794G= | CA2261367806 | ITGA2B | c.1773C= (p.Asp591=) c.1204C= n.568C= | |
17 | g.44379794G>T | CA399801923 | ITGA2B | c.1773C>A (p.Asp591Glu) c.1204C>A n.568C>A | |
17 | g.44379795T>A | CA399801925 | ITGA2B | c.1772A>T (p.Asp591Val) c.1203A>T n.567A>T | |
17 | g.44379795T>C | CA399801926 | ITGA2B | c.1772A>G (p.Asp591Gly) c.1203A>G n.567A>G | |
17 | g.44379795T>G | CA8602942 | ITGA2B | c.1772A>C (p.Asp591Ala) c.1203A>C n.567A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379795T= | CA2261367807 | ITGA2B | c.1772A= (p.Asp591=) c.1203A= n.567A= | |
17 | g.44379796C>A | CA399801927 | ITGA2B | c.1771G>T (p.Asp591Tyr) c.1202G>T n.566G>T | |
17 | g.44379796C>G | CA399801928 | ITGA2B | c.1771G>C (p.Asp591His) c.1202G>C n.566G>C | gnomAD v4 |
17 | g.44379796C>T | CA399801929 | ITGA2B | c.1771G>A (p.Asp591Asn) c.1202G>A n.566G>A | gnomAD v4 |
17 | g.44379798dup | CA915940334 | ITGA2B | c.1771dup (p.Asp591GlyfsTer?) c.1202dup n.566dup | ClinVar |
17 | g.44379797C>A | CA500272214 | ITGA2B | c.1770G>T (p.Arg590=) c.1201G>T n.565G>T | |
17 | g.44379797C= | CA2261367808 | ITGA2B | c.1770G= (p.Arg590=) c.1201G= n.565G= | |
17 | g.44379797C>G | CA500272218 | ITGA2B | c.1770G>C (p.Arg590=) c.1201G>C n.565G>C | |
17 | g.44379797C>T | CA500272219 | ITGA2B | c.1770G>A (p.Arg590=) c.1201G>A n.565G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44379798C>A | CA399801930 | ITGA2B | c.1769G>T (p.Arg590Leu) c.1200G>T n.564G>T | |
17 | g.44379798C= | CA2261367809 | ITGA2B | c.1769G= (p.Arg590=) c.1200G= n.564G= | |
17 | g.44379798C>G | CA399801931 | ITGA2B | c.1769G>C (p.Arg590Pro) c.1200G>C n.564G>C | |
17 | g.44379798C>T | CA8602943 | ITGA2B | c.1769G>A (p.Arg590Gln) c.1200G>A n.564G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.44379799G>A | CA8602944 | ITGA2B | c.1768C>T (p.Arg590Trp) c.1199C>T n.563C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.44379799G>C | CA399801932 | ITGA2B | c.1768C>G (p.Arg590Gly) c.1199C>G n.563C>G | |
17 | g.44379799G= | CA2261367810 | ITGA2B | c.1768C= (p.Arg590=) c.1199C= n.563C= | |
17 | g.44379799G>T | CA500272231 | ITGA2B | c.1768C>A (p.Arg590=) c.1199C>A n.563C>A | |
17 | g.44379800G>A | CA500272238 | ITGA2B | c.1767C>T (p.Phe589=) c.1198C>T n.562C>T | COSMIC |
17 | g.44379800G>C | CA399801933 | ITGA2B | c.1767C>G (p.Phe589Leu) c.1198C>G n.562C>G | |
17 | g.44379800G>T | CA399801935 | ITGA2B | c.1767C>A (p.Phe589Leu) c.1198C>A n.562C>A | |
17 | g.44379801A>C | CA399801939 | ITGA2B | c.1766T>G (p.Phe589Cys) c.1197T>G n.561T>G | |
17 | g.44379801A>G | CA399801938 | ITGA2B | c.1766T>C (p.Phe589Ser) c.1197T>C n.561T>C | |
17 | g.44379801A>T | CA399801937 | ITGA2B | c.1766T>A (p.Phe589Tyr) c.1197T>A n.561T>A | |
17 | g.44379802A>C | CA399801942 | ITGA2B | c.1765T>G (p.Phe589Val) c.1196T>G n.560T>G | |
17 | g.44379802A>G | CA399801940 | ITGA2B | c.1765T>C (p.Phe589Leu) c.1196T>C n.560T>C | |
17 | g.44379802A>T | CA399801941 | ITGA2B | c.1765T>A (p.Phe589Ile) c.1196T>A n.560T>A | |
17 | g.44379803G>A | CA500272255 | ITGA2B | c.1764C>T (p.Asp588=) c.1195C>T n.559C>T | |
17 | g.44379803G>C | CA399801944 | ITGA2B | c.1764C>G (p.Asp588Glu) c.1195C>G n.559C>G | |
17 | g.44379803G>T | CA399801947 | ITGA2B | c.1764C>A (p.Asp588Glu) c.1195C>A n.559C>A | gnomAD v4 |
17 | g.44379804T>A | CA399801948 | ITGA2B | c.1763A>T (p.Asp588Val) c.1194A>T n.558A>T | |
17 | g.44379804T>C | CA399801951 | ITGA2B | c.1763A>G (p.Asp588Gly) c.1194A>G n.558A>G | |
17 | g.44379804T>G | CA399801953 | ITGA2B | c.1763A>C (p.Asp588Ala) c.1194A>C n.558A>C | |
17 | g.44379805C>A | CA399801955 | ITGA2B | c.1762G>T (p.Asp588Tyr) c.1193G>T n.557G>T | |
17 | g.44379805C= | CA2261367811 | ITGA2B | c.1762G= (p.Asp588=) c.1193G= n.557G= | |
17 | g.44379805C>G | CA8602945 | ITGA2B | c.1762G>C (p.Asp588His) c.1193G>C n.557G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44379805C>T | CA399801959 | ITGA2B | c.1762G>A (p.Asp588Asn) c.1193G>A n.557G>A | |
17 | g.44379806T>A | CA500272268 | ITGA2B | c.1761A>T (p.Ala587=) c.1192A>T n.556A>T | |
17 | g.44379806T>C | CA500272271 | ITGA2B | c.1761A>G (p.Ala587=) c.1192A>G n.556A>G | |
17 | g.44379806T>G | CA500272269 | ITGA2B | c.1761A>C (p.Ala587=) c.1192A>C n.556A>C |