Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169541110T>C | CA1233780 | F5 | c.3980A>G (p.His1327Arg) c.3995A>G (p.His1332Arg) c.3569A>G (p.His1190Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169541110T>G | CA343146213 | F5 | c.3980A>C (p.His1327Pro) c.3995A>C (p.His1332Pro) c.3569A>C (p.His1190Pro) | dbSNP gnomAD v4 |