| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43071225G>A | CA500231900 | BRCA1 | c.4686C>T (p.Tyr1562=) c.4689C>T (p.Tyr1563=) c.4563C>T (p.Tyr1521=) c.4683C>T (p.Tyr1561=) c.4611C>T (p.Tyr1537=) c.1377C>T (p.Tyr459=) c.1239C>T (p.Tyr413=) c.3801C>T (p.Tyr1267=) c.4566C>T (p.Tyr1522=) c.4755C>T (p.Tyr1585=) c.4548C>T (p.Tyr1516=) c.1251C>T (p.Tyr417=) c.1296C>T (p.Tyr432=) c.4752C>T (p.Tyr1584=) c.1076C>T c.1263C>T (p.Tyr421=) c.*4472C>T (n.*4472C>T) c.1002C>T (p.Tyr334=) c.5-7274C>T (n.5-7274C>T) c.162C>T (p.Tyr54=) c.-98-21035C>T (n.-98-21035C>T) n.4825C>T n.4866C>T | ClinVar dbSNP |
| 17 | g.43071225G>C | CA002979 | BRCA1 | c.4686C>G (p.Tyr1562Ter) c.4689C>G (p.Tyr1563Ter) c.4563C>G (p.Tyr1521Ter) c.4683C>G (p.Tyr1561Ter) c.4611C>G (p.Tyr1537Ter) c.1377C>G (p.Tyr459Ter) c.1239C>G (p.Tyr413Ter) c.3801C>G (p.Tyr1267Ter) c.4566C>G (p.Tyr1522Ter) c.4755C>G (p.Tyr1585Ter) c.4548C>G (p.Tyr1516Ter) c.1251C>G (p.Tyr417Ter) c.1296C>G (p.Tyr432Ter) c.4752C>G (p.Tyr1584Ter) c.1076C>G c.1263C>G (p.Tyr421Ter) c.*4472C>G (n.*4472C>G) c.1002C>G (p.Tyr334Ter) c.5-7274C>G (n.5-7274C>G) c.162C>G (p.Tyr54Ter) c.-98-21035C>G (n.-98-21035C>G) n.4825C>G n.4866C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |