| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063361G>C | CA10591214 | BRCA1 | c.5162C>G (p.Ser1721Cys) c.5165C>G (p.Ser1722Cys) c.5039C>G (p.Ser1680Cys) c.5159C>G (p.Ser1720Cys) c.5087C>G (p.Ser1696Cys) c.1853C>G (p.Ser618Cys) c.1715C>G (p.Ser572Cys) c.4277C>G (p.Ser1426Cys) c.5042C>G (p.Ser1681Cys) c.5231C>G (p.Ser1744Cys) c.5024C>G (p.Ser1675Cys) c.1727C>G (p.Ser576Cys) c.5228C>G (p.Ser1743Cys) c.1552C>G c.1739C>G (p.Ser580Cys) c.*4948C>G (n.*4948C>G) c.1478C>G (p.Ser493Cys) c.95C>G (p.Ser32Cys) c.638C>G (p.Ser213Cys) c.-98-13171C>G (n.-98-13171C>G) n.5301C>G n.5342C>G | ClinVar dbSNP |
| 17 | g.43063361G>A | CA003318 | BRCA1 | c.5162C>T (p.Ser1721Phe) c.5165C>T (p.Ser1722Phe) c.5039C>T (p.Ser1680Phe) c.5159C>T (p.Ser1720Phe) c.5087C>T (p.Ser1696Phe) c.1853C>T (p.Ser618Phe) c.1715C>T (p.Ser572Phe) c.4277C>T (p.Ser1426Phe) c.5042C>T (p.Ser1681Phe) c.5231C>T (p.Ser1744Phe) c.5024C>T (p.Ser1675Phe) c.1727C>T (p.Ser576Phe) c.5228C>T (p.Ser1743Phe) c.1552C>T c.1739C>T (p.Ser580Phe) c.*4948C>T (n.*4948C>T) c.1478C>T (p.Ser493Phe) c.95C>T (p.Ser32Phe) c.638C>T (p.Ser213Phe) c.-98-13171C>T (n.-98-13171C>T) n.5301C>T n.5342C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.43063361G>T | CA10591215 | BRCA1 | c.5162C>A (p.Ser1721Tyr) c.5165C>A (p.Ser1722Tyr) c.5039C>A (p.Ser1680Tyr) c.5159C>A (p.Ser1720Tyr) c.5087C>A (p.Ser1696Tyr) c.1853C>A (p.Ser618Tyr) c.1715C>A (p.Ser572Tyr) c.4277C>A (p.Ser1426Tyr) c.5042C>A (p.Ser1681Tyr) c.5231C>A (p.Ser1744Tyr) c.5024C>A (p.Ser1675Tyr) c.1727C>A (p.Ser576Tyr) c.5228C>A (p.Ser1743Tyr) c.1552C>A c.1739C>A (p.Ser580Tyr) c.*4948C>A (n.*4948C>A) c.1478C>A (p.Ser493Tyr) c.95C>A (p.Ser32Tyr) c.638C>A (p.Ser213Tyr) c.-98-13171C>A (n.-98-13171C>A) n.5301C>A n.5342C>A | ClinVar dbSNP |