| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88836222G>C | CA251563 | GALNS | c.612C>G (p.Asn204Lys) n.4021C>G c.396C>G (p.Asn132Lys) n.200C>G n.314C>G c.293C>G (n.293C>G) c.731C>G (n.731C>G) c.630C>G (p.Asn210Lys) c.57C>G (p.Asn19Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88836222G>A | CA497076335 | GALNS | c.612C>T (p.Asn204=) n.4021C>T c.396C>T (p.Asn132=) n.200C>T n.314C>T c.293C>T (n.293C>T) c.731C>T (n.731C>T) c.630C>T (p.Asn210=) c.57C>T (p.Asn19=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.88836222G= | CA2241325177 | GALNS | c.612C= (p.Asn204=) n.4021C= c.396C= (p.Asn132=) n.200C= n.314C= c.293C= (n.293C=) c.731C= (n.731C=) c.630C= (p.Asn210=) c.57C= (p.Asn19=) | dbSNP |