| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101761613G>T | CA242454304 | GNPTAB | c.2866C>A (p.His956Asn) c.2785C>A (p.His929Asn) c.2650C>A (p.His884Asn) c.1639C>A (p.His547Asn) | dbSNP gnomAD v4 |
| 12 | g.101761613G>A | CA343383 | GNPTAB | c.2866C>T (p.His956Tyr) c.2785C>T (p.His929Tyr) c.2650C>T (p.His884Tyr) c.1639C>T (p.His547Tyr) | ClinVar dbSNP |
| 12 | g.101761613G= | CA2058953052 | GNPTAB | c.2866C= (p.His956=) c.2785C= (p.His929=) c.2650C= (p.His884=) c.1639C= (p.His547=) | dbSNP |