| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43067652_43067655del | CA003158 | BRCA1 | c.5027_5030del (p.Thr1676IlefsTer2) c.5030_5033del (p.Thr1677IlefsTer2) c.4904_4907del (p.Thr1635IlefsTer2) c.5024_5027del (p.Thr1675IlefsTer2) c.4952_4955del (p.Thr1651IlefsTer2) c.1718_1721del (p.Thr573IlefsTer2) c.1580_1583del (p.Thr527IlefsTer2) c.4142_4145del (p.Thr1381IlefsTer2) c.4907_4910del (p.Thr1636IlefsTer2) c.5096_5099del (p.Thr1699IlefsTer2) c.4889_4892del (p.Thr1630IlefsTer2) c.1592_1595del (p.Thr531IlefsTer2) c.5093_5096del (p.Thr1698IlefsTer2) c.1417_1420del c.1604_1607del (p.Thr535IlefsTer2) c.*4813_*4816del (n.*4813_*4816del) n.183_186del c.1343_1346del (p.Thr448IlefsTer2) c.5-3701_5-3698del (n.5-3701_5-3698del) c.503_506del (p.Thr168IlefsTer2) c.-98-17462_-98-17459del (n.-98-17462_-98-17459del) n.5166_5169del n.5207_5210del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43067652_43067655dup | CA10589628 | BRCA1 | c.5027_5030dup (p.Leu1678Ter) c.5030_5033dup (p.Leu1679Ter) c.4904_4907dup (p.Leu1637Ter) c.5024_5027dup (p.Leu1677Ter) c.4952_4955dup (p.Leu1653Ter) c.1718_1721dup (p.Leu575Ter) c.1580_1583dup (p.Leu529Ter) c.4142_4145dup (p.Leu1383Ter) c.4907_4910dup (p.Leu1638Ter) c.5096_5099dup (p.Leu1701Ter) c.4889_4892dup (p.Leu1632Ter) c.1592_1595dup (p.Leu533Ter) c.5093_5096dup (p.Leu1700Ter) c.1417_1420dup c.1604_1607dup (p.Leu537Ter) c.*4813_*4816dup (n.*4813_*4816dup) n.183_186dup c.1343_1346dup (p.Leu450Ter) c.5-3701_5-3698dup (n.5-3701_5-3698dup) c.503_506dup (p.Leu170Ter) c.-98-17462_-98-17459dup (n.-98-17462_-98-17459dup) n.5166_5169dup n.5207_5210dup | ClinVar dbSNP |