| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063931G>A | CA003234 | BRCA1 | c.5092C>T (p.Arg1698Trp) c.5095C>T (p.Arg1699Trp) c.4969C>T (p.Arg1657Trp) c.5089C>T (p.Arg1697Trp) c.5017C>T (p.Arg1673Trp) c.1783C>T (p.Arg595Trp) c.1645C>T (p.Arg549Trp) c.4207C>T (p.Arg1403Trp) c.4972C>T (p.Arg1658Trp) c.5161C>T (p.Arg1721Trp) c.4954C>T (p.Arg1652Trp) c.1657C>T (p.Arg553Trp) c.5158C>T (p.Arg1720Trp) c.1482C>T c.1669C>T (p.Arg557Trp) c.*4878C>T (n.*4878C>T) c.1408C>T (p.Arg470Trp) c.25C>T (p.Arg9Trp) c.568C>T (p.Arg190Trp) c.-98-13741C>T (n.-98-13741C>T) n.5231C>T n.5272C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43063931G>T | CA003233 | BRCA1 | c.5092C>A (p.Arg1698=) c.5095C>A (p.Arg1699=) c.4969C>A (p.Arg1657=) c.5089C>A (p.Arg1697=) c.5017C>A (p.Arg1673=) c.1783C>A (p.Arg595=) c.1645C>A (p.Arg549=) c.4207C>A (p.Arg1403=) c.4972C>A (p.Arg1658=) c.5161C>A (p.Arg1721=) c.4954C>A (p.Arg1652=) c.1657C>A (p.Arg553=) c.5158C>A (p.Arg1720=) c.1482C>A c.1669C>A (p.Arg557=) c.*4878C>A (n.*4878C>A) c.1408C>A (p.Arg470=) c.25C>A (p.Arg9=) c.568C>A (p.Arg190=) c.-98-13741C>A (n.-98-13741C>A) n.5231C>A n.5272C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43063931G>C | CA10591334 | BRCA1 | c.5092C>G (p.Arg1698Gly) c.5095C>G (p.Arg1699Gly) c.4969C>G (p.Arg1657Gly) c.5089C>G (p.Arg1697Gly) c.5017C>G (p.Arg1673Gly) c.1783C>G (p.Arg595Gly) c.1645C>G (p.Arg549Gly) c.4207C>G (p.Arg1403Gly) c.4972C>G (p.Arg1658Gly) c.5161C>G (p.Arg1721Gly) c.4954C>G (p.Arg1652Gly) c.1657C>G (p.Arg553Gly) c.5158C>G (p.Arg1720Gly) c.1482C>G c.1669C>G (p.Arg557Gly) c.*4878C>G (n.*4878C>G) c.1408C>G (p.Arg470Gly) c.25C>G (p.Arg9Gly) c.568C>G (p.Arg190Gly) c.-98-13741C>G (n.-98-13741C>G) n.5231C>G n.5272C>G | ClinVar dbSNP |