| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.75752221C>T | CA257309 | GALK1,ITGB4 | c.3841C>T (p.Arg1281Trp) c.*23-484G>A (n.*23-484G>A) c.266-5405C>T (n.266-5405C>T) n.84C>T n.255-484G>A c.3946C>T (p.Arg1316Trp) c.1786C>T (p.Arg596Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.75752221C>A | CA294081669 | GALK1,ITGB4 | c.3841C>A (p.Arg1281=) c.*23-484G>T (n.*23-484G>T) c.266-5405C>A (n.266-5405C>A) n.84C>A n.255-484G>T c.3946C>A (p.Arg1316=) c.1786C>A (p.Arg596=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |