Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.76018717C>A | CA174984 | IMPG1 | c.807+1G>T (n.807+1G>T) c.573+1G>T (n.573+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.76018717C>G | CA364778645 | IMPG1 | c.807+1G>C (n.807+1G>C) c.573+1G>C (n.573+1G>C) | ClinVar dbSNP |
6 | g.76018717C>T | CA364778644 | IMPG1 | c.807+1G>A (n.807+1G>A) c.573+1G>A (n.573+1G>A) | ClinVar dbSNP |