| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.101229574G>A | CA236192 | IMPG2 | c.3439C>T (p.Pro1147Ser) c.3145C>T (p.Pro1049Ser) c.3028C>T (p.Pro1010Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.101229574G>T | CA353848041 | IMPG2 | c.3439C>A (p.Pro1147Thr) c.3145C>A (p.Pro1049Thr) c.3028C>A (p.Pro1010Thr) | dbSNP gnomAD v4 |
| 3 | g.101229574G= | CA1388642376 | IMPG2 | c.3439C= (p.Pro1147=) c.3145C= (p.Pro1049=) c.3028C= (p.Pro1010=) | dbSNP |