| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36223478G>A | CA274118 | CLTA,GNE | c.1399C>T (p.Gln467Ter) c.1129C>T (p.Gln377Ter) c.1306C>T (p.Gln436Ter) c.485+19299G>A (n.485+19299G>A) c.976C>T (p.Gln326Ter) c.1291C>T (p.Gln431Ter) c.1246C>T (p.Gln416Ter) c.1153C>T (p.Gln385Ter) | ClinVar dbSNP gnomAD v2 |
| 9 | g.36223478G= | CA1846334564 | CLTA,GNE | c.1399C= (p.Gln467=) c.1129C= (p.Gln377=) c.1306C= (p.Gln436=) c.485+19299G= (n.485+19299G=) c.976C= (p.Gln326=) c.1291C= (p.Gln431=) c.1246C= (p.Gln416=) c.1153C= (p.Gln385=) | dbSNP |