Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.173914743G>A | CA210756 | SERPINC1 | c.218C>T (p.Pro73Leu) n.444C>T c.74C>T (p.Pro25Leu) c.299C>T (p.Pro100Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.173914743G>C | CA343777922 | SERPINC1 | c.218C>G (p.Pro73Arg) n.444C>G c.74C>G (p.Pro25Arg) c.299C>G (p.Pro100Arg) | dbSNP gnomAD v4 |
1 | g.173914743G= | CA1141581235 | SERPINC1 | c.218C= (p.Pro73=) n.444C= c.74C= (p.Pro25=) c.299C= (p.Pro100=) | dbSNP |