| 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.44379693T>A | CA399801496 | ITGA2B | c.1874A>T (p.Glu625Val) c.1305A>T n.669A>T | |
| 17 | g.44379693T>C | CA399801494 | ITGA2B | c.1874A>G (p.Glu625Gly) c.1305A>G n.669A>G | |
| 17 | g.44379693T>G | CA399801492 | ITGA2B | c.1874A>C (p.Glu625Ala) c.1305A>C n.669A>C | |
| 17 | g.44379694C>A | CA399801499 | ITGA2B | c.1873G>T (p.Glu625Ter) c.1304G>T n.668G>T | |
| 17 | g.44379694C= | CA2261367766 | ITGA2B | c.1873G= (p.Glu625=) c.1304G= n.668G= | |
| 17 | g.44379694C>G | CA399801501 | ITGA2B | c.1873G>C (p.Glu625Gln) c.1304G>C n.668G>C | dbSNP gnomAD v4 |
| 17 | g.44379694C>T | CA399801503 | ITGA2B | c.1873G>A (p.Glu625Lys) c.1304G>A n.668G>A | dbSNP gnomAD v4 |
| 17 | g.44379695C>A | CA399801505 | ITGA2B | c.1872G>T (p.Gln624His) c.1303G>T n.667G>T | |
| 17 | g.44379695C>G | CA399801508 | ITGA2B | c.1872G>C (p.Gln624His) c.1303G>C n.667G>C | |
| 17 | g.44379695C>T | CA500271602 | ITGA2B | c.1872G>A (p.Gln624=) c.1303G>A n.667G>A | |
| 17 | g.44379696T>A | CA399801511 | ITGA2B | c.1871A>T (p.Gln624Leu) c.1302A>T n.666A>T | |
| 17 | g.44379696T>C | CA399801513 | ITGA2B | c.1871A>G (p.Gln624Arg) c.1302A>G n.666A>G | |
| 17 | g.44379696T>G | CA399801516 | ITGA2B | c.1871A>C (p.Gln624Pro) c.1302A>C n.666A>C | |
| 17 | g.44379697G>A | CA399801519 | ITGA2B | c.1870C>T (p.Gln624Ter) c.1301C>T n.665C>T | |
| 17 | g.44379697G>C | CA399801521 | ITGA2B | c.1870C>G (p.Gln624Glu) c.1301C>G n.665C>G | |
| 17 | g.44379697G>T | CA399801523 | ITGA2B | c.1870C>A (p.Gln624Lys) c.1301C>A n.665C>A | |
| 17 | g.44379698C>A | CA290949560 | ITGA2B | c.1869G>T (p.Val623=) c.1300G>T n.664G>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44379698C= | CA2261367767 | ITGA2B | c.1869G= (p.Val623=) c.1300G= n.664G= | |
| 17 | g.44379698C>G | CA500271620 | ITGA2B | c.1869G>C (p.Val623=) c.1300G>C n.664G>C | |
| 17 | g.44379698C>T | CA500271619 | ITGA2B | c.1869G>A (p.Val623=) c.1300G>A n.664G>A | |
| 17 | g.44379699A>C | CA399801533 | ITGA2B | c.1868T>G (p.Val623Gly) c.1299T>G n.663T>G | |
| 17 | g.44379699A>G | CA399801530 | ITGA2B | c.1868T>C (p.Val623Ala) c.1299T>C n.663T>C | |
| 17 | g.44379699A>T | CA399801528 | ITGA2B | c.1868T>A (p.Val623Glu) c.1299T>A n.663T>A | |
| 17 | g.44379700C>A | CA399801535 | ITGA2B | c.1867G>T (p.Val623Leu) c.1298G>T n.662G>T | |
| 17 | g.44379700C= | CA2261367768 | ITGA2B | c.1867G= (p.Val623=) c.1298G= n.662G= | |
| 17 | g.44379700C>G | CA399801536 | ITGA2B | c.1867G>C (p.Val623Leu) c.1298G>C n.662G>C | dbSNP gnomAD v4 |
| 17 | g.44379700C>T | CA399801538 | ITGA2B | c.1867G>A (p.Val623Met) c.1298G>A n.662G>A | dbSNP |
| 17 | g.44379701A= | CA2261367769 | ITGA2B | c.1866T= (p.His622=) c.1297T= n.661T= | |
| 17 | g.44379701A>C | CA399801541 | ITGA2B | c.1866T>G (p.His622Gln) c.1297T>G n.661T>G | |
| 17 | g.44379701A>G | CA8602925 | ITGA2B | c.1866T>C (p.His622=) c.1297T>C n.661T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44379701A>T | CA399801545 | ITGA2B | c.1866T>A (p.His622Gln) c.1297T>A n.661T>A | |
| 17 | g.44379702T>A | CA399801548 | ITGA2B | c.1865A>T (p.His622Leu) c.1296A>T n.660A>T | |
| 17 | g.44379702T>C | CA399801549 | ITGA2B | c.1865A>G (p.His622Arg) c.1296A>G n.660A>G | |
| 17 | g.44379702T>G | CA399801550 | ITGA2B | c.1865A>C (p.His622Pro) c.1296A>C n.660A>C | |
| 17 | g.44379703G>A | CA399801553 | ITGA2B | c.1864C>T (p.His622Tyr) c.1295C>T n.659C>T | gnomAD v4 COSMIC |
| 17 | g.44379703G>C | CA399801555 | ITGA2B | c.1864C>G (p.His622Asp) c.1295C>G n.659C>G | |
| 17 | g.44379703G>T | CA399801557 | ITGA2B | c.1864C>A (p.His622Asn) c.1295C>A n.659C>A | |
| 17 | g.44379704G>A | CA500271646 | ITGA2B | c.1863C>T (p.Thr621=) c.1294C>T n.658C>T | |
| 17 | g.44379704G>C | CA500271651 | ITGA2B | c.1863C>G (p.Thr621=) c.1294C>G n.658C>G | |
| 17 | g.44379704G>T | CA500271649 | ITGA2B | c.1863C>A (p.Thr621=) c.1294C>A n.658C>A | |
| 17 | g.44379705G>A | CA290949567 | ITGA2B | c.1862C>T (p.Thr621Ile) c.1293C>T n.657C>T | dbSNP gnomAD v4 |
| 17 | g.44379705G>C | CA399801563 | ITGA2B | c.1862C>G (p.Thr621Ser) c.1293C>G n.657C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44379705G= | CA2261367770 | ITGA2B | c.1862C= (p.Thr621=) c.1293C= n.657C= | |
| 17 | g.44379705G>T | CA399801561 | ITGA2B | c.1862C>A (p.Thr621Asn) c.1293C>A n.657C>A | |
| 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 |