| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.145655165C>G | CA358344811 | MMAA | c.988C>G (p.Arg330Gly) c.*772C>G (n.*772C>G) c.922C>G (p.Arg308Gly) c.*507C>G (n.*507C>G) n.398C>G c.*119C>G (n.*119C>G) c.493C>G (p.Arg165Gly) | dbSNP |
| 4 | g.145655165C>T | CA312708 | MMAA | c.988C>T (p.Arg330Ter) c.*772C>T (n.*772C>T) c.922C>T (p.Arg308Ter) c.*507C>T (n.*507C>T) n.398C>T c.*119C>T (n.*119C>T) c.493C>T (p.Arg165Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.145655165C= | CA1501207244 | MMAA | c.988C= (p.Arg330=) c.*772C= (n.*772C=) c.922C= (p.Arg308=) c.*507C= (n.*507C=) n.398C= c.*119C= (n.*119C=) c.493C= (p.Arg165=) | dbSNP |