Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.39521510A>T | CA411623010 | ATF4 | c.65A>T (p.Gln22Leu) c.30+35A>T (n.30+35A>T) c.162A>T (p.Pro54=) c.-26-263A>T (n.-26-263A>T) | dbSNP gnomAD v4 |
22 | g.39521510A>C | CA10242900 | ATF4 | c.65A>C (p.Gln22Pro) c.30+35A>C (n.30+35A>C) c.162A>C (p.Pro54=) c.-26-263A>C (n.-26-263A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |