| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43067622_43067624dup | CA2580612634 | BRCA1 | c.5059_5061dup (p.Val1687_Met1688insVal) c.5062_5064dup (p.Val1688_Met1689insVal) c.4936_4938dup (p.Val1646_Met1647insVal) c.5056_5058dup (p.Val1686_Met1687insVal) c.4984_4986dup (p.Val1662_Met1663insVal) c.1750_1752dup (p.Val584_Met585insVal) c.1612_1614dup (p.Val538_Met539insVal) c.4174_4176dup (p.Val1392_Met1393insVal) c.4939_4941dup (p.Val1647_Met1648insVal) c.5128_5130dup (p.Val1710_Met1711insVal) c.4921_4923dup (p.Val1641_Met1642insVal) c.1624_1626dup (p.Val542_Met543insVal) c.5125_5127dup (p.Val1709_Met1710insVal) c.1449_1451dup c.1636_1638dup (p.Val546_Met547insVal) c.*4845_*4847dup (n.*4845_*4847dup) n.215_217dup c.1375_1377dup (p.Val459_Met460insVal) c.5-3669_5-3667dup (n.5-3669_5-3667dup) c.535_537dup (p.Val179_Met180insVal) c.-98-17430_-98-17428dup (n.-98-17430_-98-17428dup) n.5198_5200dup n.5239_5241dup | ClinVar dbSNP |
| 17 | g.43067622_43067624del | CA003180 | BRCA1 | c.5059_5061del (p.Val1687del) c.5062_5064del (p.Val1688del) c.4936_4938del (p.Val1646del) c.5056_5058del (p.Val1686del) c.4984_4986del (p.Val1662del) c.1750_1752del (p.Val584del) c.1612_1614del (p.Val538del) c.4174_4176del (p.Val1392del) c.4939_4941del (p.Val1647del) c.5128_5130del (p.Val1710del) c.4921_4923del (p.Val1641del) c.1624_1626del (p.Val542del) c.5125_5127del (p.Val1709del) c.1449_1451del c.1636_1638del (p.Val546del) c.*4845_*4847del (n.*4845_*4847del) n.215_217del c.1375_1377del (p.Val459del) c.5-3669_5-3667del (n.5-3669_5-3667del) c.535_537del (p.Val179del) c.-98-17430_-98-17428del (n.-98-17430_-98-17428del) n.5198_5200del n.5239_5241del | ClinVar dbSNP gnomAD v3 gnomAD v4 |