| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.116627775G>A | CA16612098 | RSPH4A | c.1068G>A (p.Trp356Ter) c.922-1792G>A (n.922-1792G>A) n.3719G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.116627775G>T | CA3970890 | RSPH4A | c.1068G>T (p.Trp356Cys) c.922-1792G>T (n.922-1792G>T) n.3719G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.116627775G= | CA1657309791 | RSPH4A | c.1068G= (p.Trp356=) c.922-1792G= (n.922-1792G=) n.3719G= | dbSNP |