| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.113118772T>G | CA121860 | F7 | c.1099T>G (p.Cys367Gly) c.1165T>G (p.Cys389Gly) c.913T>G (p.Cys305Gly) n.1186T>G c.958T>G (p.Cys320Gly) c.1207T>G (p.Cys403Gly) c.1021T>G (p.Cys341Gly) c.859T>G (p.Cys287Gly) c.1168T>G (p.Cys390Gly) c.1003T>G (p.Cys335Gly) c.1252T>G (p.Cys418Gly) c.1066T>G (p.Cys356Gly) n.1183T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113118772T>C | CA7060234 | F7 | c.1099T>C (p.Cys367Arg) c.1165T>C (p.Cys389Arg) c.913T>C (p.Cys305Arg) n.1186T>C c.958T>C (p.Cys320Arg) c.1207T>C (p.Cys403Arg) c.1021T>C (p.Cys341Arg) c.859T>C (p.Cys287Arg) c.1168T>C (p.Cys390Arg) c.1003T>C (p.Cys335Arg) c.1252T>C (p.Cys418Arg) c.1066T>C (p.Cys356Arg) n.1183T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |