Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.112438547A>G | CA3047125 | ALPK1 | c.3252A>G (p.Arg1084=) c.3018A>G (p.Arg1006=) n.3740A>G c.*203A>G (n.*203A>G) c.*2695A>G (n.*2695A>G) c.3192A>G (p.Arg1064=) c.3270A>G (p.Arg1090=) c.3210A>G (p.Arg1070=) c.3201A>G (p.Arg1067=) c.3147A>G (p.Arg1049=) c.3036A>G (p.Arg1012=) c.2646A>G (p.Arg882=) c.2628A>G (p.Arg876=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.112438547A>T | CA440827795 | ALPK1 | c.3252A>T (p.Arg1084=) c.3018A>T (p.Arg1006=) n.3740A>T c.*203A>T (n.*203A>T) c.*2695A>T (n.*2695A>T) c.3192A>T (p.Arg1064=) c.3270A>T (p.Arg1090=) c.3210A>T (p.Arg1070=) c.3201A>T (p.Arg1067=) c.3147A>T (p.Arg1049=) c.3036A>T (p.Arg1012=) c.2646A>T (p.Arg882=) c.2628A>T (p.Arg876=) | dbSNP |