| 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 |
| 11 | g.2165727G>C | CA379125697 | TH | c.1141C>G (p.Gln381Glu) c.*830C>G (n.*830C>G) c.859C>G (p.Gln287Glu) c.1222C>G (p.Gln408Glu) c.1234C>G (p.Gln412Glu) c.299C>G c.435C>G n.690C>G c.1153C>G (p.Gln385Glu) | dbSNP |
| 11 | g.2165727G= | CA1948004244 | TH | c.1141C= (p.Gln381=) c.*830C= (n.*830C=) c.859C= (p.Gln287=) c.1222C= (p.Gln408=) c.1234C= (p.Gln412=) c.299C= c.435C= n.690C= c.1153C= (p.Gln385=) | dbSNP |