| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.113118770T>G | CA256461792 | F7 | c.1097T>G (p.Phe366Cys) c.1163T>G (p.Phe388Cys) c.911T>G (p.Phe304Cys) n.1184T>G c.956T>G (p.Phe319Cys) c.1205T>G (p.Phe402Cys) c.1019T>G (p.Phe340Cys) c.857T>G (p.Phe286Cys) c.1166T>G (p.Phe389Cys) c.1001T>G (p.Phe334Cys) c.1250T>G (p.Phe417Cys) c.1064T>G (p.Phe355Cys) n.1181T>G | dbSNP |
| 13 | g.113118770T>C | CA7060233 | F7 | c.1097T>C (p.Phe366Ser) c.1163T>C (p.Phe388Ser) c.911T>C (p.Phe304Ser) n.1184T>C c.956T>C (p.Phe319Ser) c.1205T>C (p.Phe402Ser) c.1019T>C (p.Phe340Ser) c.857T>C (p.Phe286Ser) c.1166T>C (p.Phe389Ser) c.1001T>C (p.Phe334Ser) c.1250T>C (p.Phe417Ser) c.1064T>C (p.Phe355Ser) n.1181T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |