| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.100106278C>T | CA346965 | AP4M1 | c.1012C>T (p.Arg338Ter) n.1271C>T c.901C>T c.628C>T (p.Arg210Ter) c.1033C>T (p.Arg345Ter) c.808C>T (p.Arg270Ter) c.*621C>T (n.*621C>T) c.189C>T c.*234C>T (n.*234C>T) c.268C>T (p.Arg90Ter) n.302C>T c.337C>T (p.Arg113Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.100106278C>G | CA368474506 | AP4M1 | c.1012C>G (p.Arg338Gly) n.1271C>G c.901C>G c.628C>G (p.Arg210Gly) c.1033C>G (p.Arg345Gly) c.808C>G (p.Arg270Gly) c.*621C>G (n.*621C>G) c.189C>G c.*234C>G (n.*234C>G) c.268C>G (p.Arg90Gly) n.302C>G c.337C>G (p.Arg113Gly) | dbSNP gnomAD v2 gnomAD v4 |