| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43070958C>T | CA003103 | BRCA1 | c.4953G>A (p.Met1651Ile) c.4956G>A (p.Met1652Ile) c.4830G>A (p.Met1610Ile) c.4950G>A (p.Met1650Ile) c.4878G>A (p.Met1626Ile) c.1644G>A (p.Met548Ile) c.1506G>A (p.Met502Ile) c.4068G>A (p.Met1356Ile) c.4833G>A (p.Met1611Ile) c.5022G>A (p.Met1674Ile) c.4815G>A (p.Met1605Ile) c.1518G>A (p.Met506Ile) c.1563G>A (p.Met521Ile) c.5019G>A (p.Met1673Ile) c.1343G>A c.1530G>A (p.Met510Ile) c.*4739G>A (n.*4739G>A) n.109G>A c.1269G>A (p.Met423Ile) c.5-7007G>A (n.5-7007G>A) c.429G>A (p.Met143Ile) c.-98-20768G>A (n.-98-20768G>A) n.5092G>A n.5133G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43070958C>G | CA10591612 | BRCA1 | c.4953G>C (p.Met1651Ile) c.4956G>C (p.Met1652Ile) c.4830G>C (p.Met1610Ile) c.4950G>C (p.Met1650Ile) c.4878G>C (p.Met1626Ile) c.1644G>C (p.Met548Ile) c.1506G>C (p.Met502Ile) c.4068G>C (p.Met1356Ile) c.4833G>C (p.Met1611Ile) c.5022G>C (p.Met1674Ile) c.4815G>C (p.Met1605Ile) c.1518G>C (p.Met506Ile) c.1563G>C (p.Met521Ile) c.5019G>C (p.Met1673Ile) c.1343G>C c.1530G>C (p.Met510Ile) c.*4739G>C (n.*4739G>C) n.109G>C c.1269G>C (p.Met423Ile) c.5-7007G>C (n.5-7007G>C) c.429G>C (p.Met143Ile) c.-98-20768G>C (n.-98-20768G>C) n.5092G>C n.5133G>C | ClinVar dbSNP |
| 17 | g.43070958C>A | CA10591611 | BRCA1 | c.4953G>T (p.Met1651Ile) c.4956G>T (p.Met1652Ile) c.4830G>T (p.Met1610Ile) c.4950G>T (p.Met1650Ile) c.4878G>T (p.Met1626Ile) c.1644G>T (p.Met548Ile) c.1506G>T (p.Met502Ile) c.4068G>T (p.Met1356Ile) c.4833G>T (p.Met1611Ile) c.5022G>T (p.Met1674Ile) c.4815G>T (p.Met1605Ile) c.1518G>T (p.Met506Ile) c.1563G>T (p.Met521Ile) c.5019G>T (p.Met1673Ile) c.1343G>T c.1530G>T (p.Met510Ile) c.*4739G>T (n.*4739G>T) n.109G>T c.1269G>T (p.Met423Ile) c.5-7007G>T (n.5-7007G>T) c.429G>T (p.Met143Ile) c.-98-20768G>T (n.-98-20768G>T) n.5092G>T n.5133G>T | ClinVar dbSNP |