| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43071231_43071232del | CA002977 | BRCA1 | c.4681_4682del (p.Pro1561LeufsTer11) c.4684_4685del (p.Pro1562LeufsTer11) c.4558_4559del (p.Pro1520LeufsTer11) c.4678_4679del (p.Pro1560LeufsTer11) c.4606_4607del (p.Pro1536LeufsTer11) c.1372_1373del (p.Pro458LeufsTer11) c.1234_1235del (p.Pro412LeufsTer11) c.3796_3797del (p.Pro1266LeufsTer11) c.4561_4562del (p.Pro1521LeufsTer11) c.4750_4751del (p.Pro1584LeufsTer11) c.4543_4544del (p.Pro1515LeufsTer11) c.1246_1247del (p.Pro416LeufsTer11) c.1291_1292del (p.Pro431LeufsTer11) c.4747_4748del (p.Pro1583LeufsTer11) c.1071_1072del c.1258_1259del (p.Pro420LeufsTer11) c.*4467_*4468del (n.*4467_*4468del) c.997_998del (p.Pro333LeufsTer11) c.5-7279_5-7278del (n.5-7279_5-7278del) c.157_158del (p.Pro53LeufsTer11) c.-98-21040_-98-21039del (n.-98-21040_-98-21039del) n.4820_4821del n.4861_4862del | ClinVar dbSNP |
| 17 | g.43071232del | CA3060570737 | BRCA1 | c.4682del (p.Pro1561LeufsTer?) c.4685del (p.Pro1562LeufsTer?) c.4559del (p.Pro1520LeufsTer?) c.4679del (p.Pro1560LeufsTer?) c.4607del (p.Pro1536LeufsTer?) c.1373del (p.Pro458LeufsTer?) c.1235del (p.Pro412LeufsTer?) c.3797del (p.Pro1266LeufsTer?) c.4562del (p.Pro1521LeufsTer?) c.4751del (p.Pro1584LeufsTer?) c.4544del (p.Pro1515LeufsTer?) c.1247del (p.Pro416LeufsTer?) c.1292del (p.Pro431LeufsTer?) c.4748del (p.Pro1583LeufsTer?) c.1072del c.1259del (p.Pro420LeufsTer?) c.*4468del (n.*4468del) c.998del (p.Pro333LeufsTer?) c.5-7278del (n.5-7278del) c.158del (p.Pro53LeufsTer?) c.-98-21039del (n.-98-21039del) n.4821del n.4862del | ClinVar dbSNP |