Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169582444T>C | CA1234696 | F5 | c.237A>G (p.Gln79=) c.-162+3785A>G (n.-162+3785A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169582444T= | CA1139773082 | F5 | c.237A= (p.Gln79=) c.-162+3785A= (n.-162+3785A=) | dbSNP |
1 | g.169582444T>G | CA343144645 | F5 | c.237A>C (p.Gln79His) c.-162+3785A>C (n.-162+3785A>C) | dbSNP gnomAD v4 |