| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101765143C>T | CA267599 | GNPTAB | c.1774G>A (p.Ala592Thr) c.1693G>A (p.Ala565Thr) c.1558G>A (p.Ala520Thr) c.547G>A (p.Ala183Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101765143C= | CA2058955702 | GNPTAB | c.1774G= (p.Ala592=) c.1693G= (p.Ala565=) c.1558G= (p.Ala520=) c.547G= (p.Ala183=) | dbSNP |
| 12 | g.101765143C>A | CA386299840 | GNPTAB | c.1774G>T (p.Ala592Ser) c.1693G>T (p.Ala565Ser) c.1558G>T (p.Ala520Ser) c.547G>T (p.Ala183Ser) | dbSNP gnomAD v4 |