Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31150734T>C | CA449788898 | CCHCR1 | c.1092A>G (p.Glu364=) c.825A>G (p.Glu275=) c.984A>G (p.Glu328=) n.93-1066A>G n.966A>G c.*278A>G (n.*278A>G) c.1011A>G (p.Glu337=) c.717A>G (p.Glu239=) c.1119A>G (p.Glu373=) c.-4A>G (n.-4A>G) c.903A>G (p.Glu301=) c.747A>G (p.Glu249=) c.468A>G (p.Glu156=) | dbSNP |
6 | g.31150734T>A | CA363307146 | CCHCR1 | c.1092A>T (p.Glu364Asp) c.825A>T (p.Glu275Asp) c.984A>T (p.Glu328Asp) n.93-1066A>T n.966A>T c.*278A>T (n.*278A>T) c.1011A>T (p.Glu337Asp) c.717A>T (p.Glu239Asp) c.1119A>T (p.Glu373Asp) c.-4A>T (n.-4A>T) c.903A>T (p.Glu301Asp) c.747A>T (p.Glu249Asp) c.468A>T (p.Glu156Asp) | dbSNP |
6 | g.31150734T>G | CA3709342 | CCHCR1 | c.1092A>C (p.Glu364Asp) c.825A>C (p.Glu275Asp) c.984A>C (p.Glu328Asp) n.93-1066A>C n.966A>C c.*278A>C (n.*278A>C) c.1011A>C (p.Glu337Asp) c.717A>C (p.Glu239Asp) c.1119A>C (p.Glu373Asp) c.-4A>C (n.-4A>C) c.903A>C (p.Glu301Asp) c.747A>C (p.Glu249Asp) c.468A>C (p.Glu156Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |