| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128400828G>A | CA124376 | IMPDH1 | c.460C>T (p.Arg154Trp) n.424C>T c.568C>T (p.Arg190Trp) c.211+4C>T c.538C>T (p.Arg180Trp) c.469C>T (p.Arg157Trp) c.314C>T c.313C>T (p.Arg105Trp) c.309+4C>T (n.309+4C>T) c.424C>T (p.Arg142Trp) c.297+187C>T (n.297+187C>T) n.737C>T c.249+187C>T (n.249+187C>T) n.388C>T c.361C>T (p.Arg121Trp) c.337C>T (p.Arg113Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128400828G= | CA1742334245 | IMPDH1 | c.460C= (p.Arg154=) n.424C= c.568C= (p.Arg190=) c.211+4C= c.538C= (p.Arg180=) c.469C= (p.Arg157=) c.314C= c.313C= (p.Arg105=) c.309+4C= (n.309+4C=) c.424C= (p.Arg142=) c.297+187C= (n.297+187C=) n.737C= c.249+187C= (n.249+187C=) n.388C= c.361C= (p.Arg121=) c.337C= (p.Arg113=) | dbSNP |
| 7 | g.128400828G>C | CA369174088 | IMPDH1 | c.460C>G (p.Arg154Gly) n.424C>G c.568C>G (p.Arg190Gly) c.211+4C>G c.538C>G (p.Arg180Gly) c.469C>G (p.Arg157Gly) c.314C>G c.313C>G (p.Arg105Gly) c.309+4C>G (n.309+4C>G) c.424C>G (p.Arg142Gly) c.297+187C>G (n.297+187C>G) n.737C>G c.249+187C>G (n.249+187C>G) n.388C>G c.361C>G (p.Arg121Gly) c.337C>G (p.Arg113Gly) | dbSNP gnomAD v4 |