| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61780934_61780935del | CA16044127 | BRIP1 | c.1284_1285del (n.1284_1285del) c.1702_1703del (p.Asn568TrpfsTer9) c.1195_1196del (p.Asn399TrpfsTer9) n.442_443del c.*1128_*1129del (n.*1128_*1129del) n.3443_3444del c.1480_1481del (p.Asn494TrpfsTer9) c.395_396del c.1219_1220del (p.Asn407TrpfsTer9) c.1159_1160del (p.Asn387TrpfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61780935del | CA2582342280 | BRIP1 | c.1285del (n.1285del) c.1703del (p.Asn568MetfsTer22) c.1196del (p.Asn399MetfsTer22) n.443del c.*1129del (n.*1129del) n.3444del c.1481del (p.Asn494MetfsTer22) c.396del c.1220del (p.Asn407MetfsTer22) c.1160del (p.Asn387MetfsTer22) | ClinVar dbSNP |