| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.31933876C>T | CA136929237 | C2 | c.440C>T (p.Ser147Phe) c.257C>T (p.Ser86Phe) c.626C>T (p.Ser209Phe) c.121C>T (p.Leu41Phe) c.221C>T (p.Ser74Phe) n.429C>T n.564C>T c.230C>T (p.Ser77Phe) c.220C>T c.111+93C>T (n.111+93C>T) c.443-3443C>T (n.443-3443C>T) c.*339C>T (n.*339C>T) c.203C>T (p.Ser68Phe) c.539C>T (p.Ser180Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.31933876C>G | CA3727457 | C2 | c.440C>G (p.Ser147Cys) c.257C>G (p.Ser86Cys) c.626C>G (p.Ser209Cys) c.121C>G (p.Leu41Val) c.221C>G (p.Ser74Cys) n.429C>G n.564C>G c.230C>G (p.Ser77Cys) c.220C>G c.111+93C>G (n.111+93C>G) c.443-3443C>G (n.443-3443C>G) c.*339C>G (n.*339C>G) c.203C>G (p.Ser68Cys) c.539C>G (p.Ser180Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.31933876C= | CA1619369902 | C2 | c.440C= (p.Ser147=) c.257C= (p.Ser86=) c.626C= (p.Ser209=) c.121C= (p.Leu41=) c.221C= (p.Ser74=) n.429C= n.564C= c.230C= (p.Ser77=) c.220C= c.111+93C= (n.111+93C=) c.443-3443C= (n.443-3443C=) c.*339C= (n.*339C=) c.203C= (p.Ser68=) c.539C= (p.Ser180=) | dbSNP |