| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128398504C>G | CA10586358 | IMPDH1 | c.876G>C (p.Gln292His) n.859G>C c.984G>C (p.Gln328His) c.616G>C c.954G>C (p.Gln318His) c.885G>C (p.Gln295His) n.573G>C c.749G>C c.726G>C (p.Gln242His) c.714G>C (p.Gln238His) c.859G>C (n.859G>C) c.654G>C (p.Gln218His) c.777G>C (p.Gln259His) c.729G>C (p.Gln243His) c.753G>C (p.Gln251His) c.366G>C (p.Gln122His) | ClinVar dbSNP |
| 7 | g.128398504C>A | CA369168756 | IMPDH1 | c.876G>T (p.Gln292His) n.859G>T c.984G>T (p.Gln328His) c.616G>T c.954G>T (p.Gln318His) c.885G>T (p.Gln295His) n.573G>T c.749G>T c.726G>T (p.Gln242His) c.714G>T (p.Gln238His) c.859G>T (n.859G>T) c.654G>T (p.Gln218His) c.777G>T (p.Gln259His) c.729G>T (p.Gln243His) c.753G>T (p.Gln251His) c.366G>T (p.Gln122His) | ClinVar dbSNP |