Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31892560T>A | CA449810077 | EHMT2 | c.711A>T (p.Ser237=) c.882A>T (p.Ser294=) n.405A>T n.672A>T c.84A>T (p.Ser28=) c.708+134A>T (n.708+134A>T) | dbSNP gnomAD v4 |
6 | g.31892560T>G | CA449810078 | EHMT2 | c.711A>C (p.Ser237=) c.882A>C (p.Ser294=) n.405A>C n.672A>C c.84A>C (p.Ser28=) c.708+134A>C (n.708+134A>C) | dbSNP |
6 | g.31892560T>C | CA3726758 | EHMT2 | c.711A>G (p.Ser237=) c.882A>G (p.Ser294=) n.405A>G n.672A>G c.84A>G (p.Ser28=) c.708+134A>G (n.708+134A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |