| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11789390A>C | CA416119360 | C1orf167,MTHFR | c.3793A>C (p.Arg1265=) c.4294A>C (p.Arg1432=) c.*1290T>G (n.*1290T>G) c.2429A>C c.3384T>G (n.3384T>G) c.4351A>C (p.Arg1451=) c.1793A>C c.1529A>C n.588A>C c.4429A>C (p.Arg1477=) c.4335A>C (p.Pro1445=) c.4240A>C (p.Arg1414=) c.*347A>C (n.*347A>C) | dbSNP gnomAD v4 |
| 1 | g.11789390A>G | CA595117 | C1orf167,MTHFR | c.3793A>G (p.Arg1265Gly) c.4294A>G (p.Arg1432Gly) c.*1290T>C (n.*1290T>C) c.2429A>G c.3384T>C (n.3384T>C) c.4351A>G (p.Arg1451Gly) c.1793A>G c.1529A>G n.588A>G c.4429A>G (p.Arg1477Gly) c.4335A>G (p.Pro1445=) c.4240A>G (p.Arg1414Gly) c.*347A>G (n.*347A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |