| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.149378603C>A | CA117340 | TAB2 | n.1103C>A c.688C>A (p.Gln230Lys) c.-96-69C>A (n.-96-69C>A) c.592C>A (p.Gln198Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.149378603C= | CA1671915369 | TAB2 | n.1103C= c.688C= (p.Gln230=) c.-96-69C= (n.-96-69C=) c.592C= (p.Gln198=) | dbSNP |