Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2165727G>T | CA278129 | TH | c.1141C>A (p.Gln381Lys) c.*830C>A (n.*830C>A) c.859C>A (p.Gln287Lys) c.1222C>A (p.Gln408Lys) c.1234C>A (p.Gln412Lys) c.299C>A c.435C>A n.690C>A c.1153C>A (p.Gln385Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2165727G>A | CA379125696 | TH | c.1141C>T (p.Gln381Ter) c.*830C>T (n.*830C>T) c.859C>T (p.Gln287Ter) c.1222C>T (p.Gln408Ter) c.1234C>T (p.Gln412Ter) c.299C>T c.435C>T n.690C>T c.1153C>T (p.Gln385Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |