Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.32121077G>T | CA449824738 | ATF6B | c.612C>A (p.Ser204=) c.603C>A (p.Ser201=) n.538C>A n.627C>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.32121077G>A | CA449824737 | ATF6B | c.612C>T (p.Ser204=) c.603C>T (p.Ser201=) n.538C>T n.627C>T | dbSNP gnomAD v4 |
6 | g.32121077G>C | CA3736338 | ATF6B | c.612C>G (p.Ser204=) c.603C>G (p.Ser201=) n.538C>G n.627C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |