Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.97611535G>T | CA113813 | HOGA1 | c.860G>T (p.Gly287Val) c.371G>T (p.Gly124Val) c.345+9545G>T (n.345+9545G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.97611535G>A | CA5634299 | HOGA1 | c.860G>A (p.Gly287Glu) c.371G>A (p.Gly124Glu) c.345+9545G>A (n.345+9545G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |