| 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 |
| 7 | g.128398504C= | CA1742328073 | IMPDH1 | c.876G= (p.Gln292=) n.859G= c.984G= (p.Gln328=) c.616G= c.954G= (p.Gln318=) c.885G= (p.Gln295=) n.573G= c.749G= c.726G= (p.Gln242=) c.714G= (p.Gln238=) c.859G= (n.859G=) c.654G= (p.Gln218=) c.777G= (p.Gln259=) c.729G= (p.Gln243=) c.753G= (p.Gln251=) c.366G= (p.Gln122=) | dbSNP |