| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128394575C>A | CA457844226 | IMPDH1 | c.1467G>T (p.Ala489=) n.1450G>T c.1575G>T (p.Ala525=) c.1207G>T c.1545G>T (p.Ala515=) c.1476G>T (p.Ala492=) n.465G>T c.1340G>T c.1317G>T (p.Ala439=) c.1305G>T (p.Ala435=) c.1450G>T (n.1450G>T) c.1245G>T (p.Ala415=) c.1320G>T (p.Ala440=) c.1368G>T (p.Ala456=) c.1344G>T (p.Ala448=) c.957G>T (p.Ala319=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.128394575C>G | CA166121744 | IMPDH1 | c.1467G>C (p.Ala489=) n.1450G>C c.1575G>C (p.Ala525=) c.1207G>C c.1545G>C (p.Ala515=) c.1476G>C (p.Ala492=) n.465G>C c.1340G>C c.1317G>C (p.Ala439=) c.1305G>C (p.Ala435=) c.1450G>C (n.1450G>C) c.1245G>C (p.Ala415=) c.1320G>C (p.Ala440=) c.1368G>C (p.Ala456=) c.1344G>C (p.Ala448=) c.957G>C (p.Ala319=) | dbSNP |
| 7 | g.128394575C>T | CA4470782 | IMPDH1 | c.1467G>A (p.Ala489=) n.1450G>A c.1575G>A (p.Ala525=) c.1207G>A c.1545G>A (p.Ala515=) c.1476G>A (p.Ala492=) n.465G>A c.1340G>A c.1317G>A (p.Ala439=) c.1305G>A (p.Ala435=) c.1450G>A (n.1450G>A) c.1245G>A (p.Ala415=) c.1320G>A (p.Ala440=) c.1368G>A (p.Ala456=) c.1344G>A (p.Ala448=) c.957G>A (p.Ala319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |