| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186284167C>A | CA121755 | F11 | c.1211C>A (p.Thr404Asn) c.1049C>A (p.Thr350Asn) c.1214C>A (p.Thr405Asn) c.944C>A (p.Thr315Asn) c.1166C>A (p.Thr389Asn) n.1619C>A c.*2183C>A (n.*2183C>A) n.1685C>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.186284167C= | CA1519937775 | F11 | c.1211C= (p.Thr404=) c.1049C= (p.Thr350=) c.1214C= (p.Thr405=) c.944C= (p.Thr315=) c.1166C= (p.Thr389=) n.1619C= c.*2183C= (n.*2183C=) n.1685C= | dbSNP |