| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87945593C>T | CA259863 | GALC | c.1630G>A (p.Asp544Asn) c.1561G>A (p.Asp521Asn) c.1552G>A (p.Asp518Asn) c.1462G>A (p.Asp488Asn) c.997G>A (p.Asp333Asn) c.206+2135G>A c.*1028G>A (n.*1028G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.87945593C= | CA2153356541 | GALC | c.1630G= (p.Asp544=) c.1561G= (p.Asp521=) c.1552G= (p.Asp518=) c.1462G= (p.Asp488=) c.997G= (p.Asp333=) c.206+2135G= c.*1028G= (n.*1028G=) | dbSNP |