| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.151186916C>T | CA143901 | ASB10 | c.215G>A (p.Arg72His) c.272-257G>A (n.272-257G>A) c.*259G>A (n.*259G>A) c.350G>A (p.Arg117His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186916C>A | CA370037522 | ASB10 | c.215G>T (p.Arg72Leu) c.272-257G>T (n.272-257G>T) c.*259G>T (n.*259G>T) c.350G>T (p.Arg117Leu) | dbSNP gnomAD v4 |
| 7 | g.151186916C>G | CA370037523 | ASB10 | c.215G>C (p.Arg72Pro) c.272-257G>C (n.272-257G>C) c.*259G>C (n.*259G>C) c.350G>C (p.Arg117Pro) | dbSNP gnomAD v4 |
| 7 | g.151186916C= | CA1752545618 | ASB10 | c.215G= (p.Arg72=) c.272-257G= (n.272-257G=) c.*259G= (n.*259G=) c.350G= (p.Arg117=) | dbSNP |