| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.97611582C>T | CA203968 | HOGA1 | c.907C>T (p.Arg303Cys) c.418C>T (p.Arg140Cys) c.345+9592C>T (n.345+9592C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.97611582C= | CA1930507050 | HOGA1 | c.907C= (p.Arg303=) c.418C= (p.Arg140=) c.345+9592C= (n.345+9592C=) | dbSNP |
| 10 | g.97611582C>G | CA377983546 | HOGA1 | c.907C>G (p.Arg303Gly) c.418C>G (p.Arg140Gly) c.345+9592C>G (n.345+9592C>G) | ClinVar dbSNP |