| 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.44379677_44379686dup | CA983997693 | ITGA2B | c.1878+13_1878+22dup (n.1878+13_1878+22dup) c.1309+13_1309+22dup n.673+13_673+22dup | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44379677_44379686del | CA8602920 | ITGA2B | c.1878+13_1878+22del (n.1878+13_1878+22del) c.1309+13_1309+22del n.673+13_673+22del | dbSNP ExAC gnomAD v2 |
| 17 | g.44379681G>C | CA626121684 | ITGA2B | c.1878+8C>G (n.1878+8C>G) c.1309+8C>G n.673+8C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44379681G= | CA2261367761 | ITGA2B | c.1878+8C= (n.1878+8C=) c.1309+8C= n.673+8C= | |
| 17 | g.44379683C>T | CA2638217467 | ITGA2B | c.1878+6G>A (n.1878+6G>A) c.1309+6G>A n.673+6G>A | gnomAD v4 |
| 17 | g.44379684C= | CA2261367762 | ITGA2B | c.1878+5G= (n.1878+5G=) c.1309+5G= n.673+5G= | |
| 17 | g.44379684C>G | CA290949546 | ITGA2B | c.1878+5G>C (n.1878+5G>C) c.1309+5G>C n.673+5G>C | dbSNP |
| 17 | g.44379684C>T | CA290949547 | ITGA2B | c.1878+5G>A (n.1878+5G>A) c.1309+5G>A n.673+5G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44379686T>C | CA2638217468 | ITGA2B | c.1878+3A>G (n.1878+3A>G) c.1309+3A>G n.673+3A>G | gnomAD v4 |
| 17 | g.44379687A>C | CA399801456 | ITGA2B | c.1878+2T>G (n.1878+2T>G) c.1309+2T>G n.673+2T>G | |
| 17 | g.44379687A>G | CA399801459 | ITGA2B | c.1878+2T>C (n.1878+2T>C) c.1309+2T>C n.673+2T>C | |
| 17 | g.44379687A>T | CA399801461 | ITGA2B | c.1878+2T>A (n.1878+2T>A) c.1309+2T>A n.673+2T>A | |
| 17 | g.44379688C>A | CA399801465 | ITGA2B | c.1878+1G>T (n.1878+1G>T) c.1309+1G>T n.673+1G>T | |
| 17 | g.44379688C>G | CA399801468 | ITGA2B | c.1878+1G>C (n.1878+1G>C) c.1309+1G>C n.673+1G>C | |
| 17 | g.44379688C>T | CA399801466 | ITGA2B | c.1878+1G>A (n.1878+1G>A) c.1309+1G>A n.673+1G>A | |
| 17 | g.44379689C>A | CA399801470 | ITGA2B | c.1878G>T (p.Gln626His) c.1309G>T n.673G>T | |
| 17 | g.44379689C= | CA2261367763 | ITGA2B | c.1878G= (p.Gln626=) c.1309G= n.673G= | |
| 17 | g.44379689C>G | CA115852 | ITGA2B | c.1878G>C (p.Gln626His) c.1309G>C n.673G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.44379689C>T | CA500271564 | ITGA2B | c.1878G>A (p.Gln626=) c.1309G>A n.673G>A | |
| 17 | g.44379690T>A | CA399801475 | ITGA2B | c.1877A>T (p.Gln626Leu) c.1308A>T n.672A>T | |
| 17 | g.44379690T>C | CA399801477 | ITGA2B | c.1877A>G (p.Gln626Arg) c.1308A>G n.672A>G | |
| 17 | g.44379690T>G | CA399801479 | ITGA2B | c.1877A>C (p.Gln626Pro) c.1308A>C n.672A>C | |
| 17 | g.44379691G>A | CA399801481 | ITGA2B | c.1876C>T (p.Gln626Ter) c.1307C>T n.671C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.44379691G>C | CA399801484 | ITGA2B | c.1876C>G (p.Gln626Glu) c.1307C>G n.671C>G | |
| 17 | g.44379691G= | CA2261367764 | ITGA2B | c.1876C= (p.Gln626=) c.1307C= n.671C= | |
| 17 | g.44379691G>T | CA399801486 | ITGA2B | c.1876C>A (p.Gln626Lys) c.1307C>A n.671C>A | dbSNP gnomAD v4 |
| 17 | g.44379692C>A | CA399801487 | ITGA2B | c.1875G>T (p.Glu625Asp) c.1306G>T n.670G>T | |
| 17 | g.44379692C= | CA2261367765 | ITGA2B | c.1875G= (p.Glu625=) c.1306G= n.670G= | |
| 17 | g.44379692C>G | CA399801489 | ITGA2B | c.1875G>C (p.Glu625Asp) c.1306G>C n.670G>C | |
| 17 | g.44379692C>T | CA500271582 | ITGA2B | c.1875G>A (p.Glu625=) c.1306G>A n.670G>A | dbSNP gnomAD v4 |
| 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 |