| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87965586G>C | CA16041700 | GALC | c.952C>G (p.Pro318Ala) c.883C>G (p.Pro295Ala) c.874C>G (p.Pro292Ala) n.942C>G c.784C>G (p.Pro262Ala) c.319C>G (p.Pro107Ala) c.*350C>G (n.*350C>G) n.38C>G c.942C>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.87965586G>A | CA390747574 | GALC | c.952C>T (p.Pro318Ser) c.883C>T (p.Pro295Ser) c.874C>T (p.Pro292Ser) n.942C>T c.784C>T (p.Pro262Ser) c.319C>T (p.Pro107Ser) c.*350C>T (n.*350C>T) n.38C>T c.942C>T | dbSNP gnomAD v4 |
| 14 | g.87965586G= | CA2153345225 | GALC | c.952C= (p.Pro318=) c.883C= (p.Pro295=) c.874C= (p.Pro292=) n.942C= c.784C= (p.Pro262=) c.319C= (p.Pro107=) c.*350C= (n.*350C=) n.38C= c.942C= | dbSNP |