Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.31317679G>C | CA387819181 | B3GLCT | c.1178G>C (p.Gly393Ala) c.1121G>C (p.Gly374Ala) c.1065-6072G>C (n.1065-6072G>C) c.1058G>C (p.Gly353Ala) c.1031G>C (p.Gly344Ala) | dbSNP |
13 | g.31317679G>A | CA251732 | B3GLCT | c.1178G>A (p.Gly393Glu) c.1121G>A (p.Gly374Glu) c.1065-6072G>A (n.1065-6072G>A) c.1058G>A (p.Gly353Glu) c.1031G>A (p.Gly344Glu) | ClinVar dbSNP |