| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87934869T>A | CA7296847 | GALC | c.1921A>T (p.Thr641Ser) c.1852A>T (p.Thr618Ser) c.1843A>T (p.Thr615Ser) c.1744-870A>T (n.1744-870A>T) c.1279-870A>T (n.1279-870A>T) c.457A>T c.1753A>T (p.Thr585Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.87934869T>C | CA145810 | GALC | c.1921A>G (p.Thr641Ala) c.1852A>G (p.Thr618Ala) c.1843A>G (p.Thr615Ala) c.1744-870A>G (n.1744-870A>G) c.1279-870A>G (n.1279-870A>G) c.457A>G c.1753A>G (p.Thr585Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |