Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102852922C>G | CA481331560 | PAH | c.735G>C (p.Val245=) c.720G>C (p.Val240=) n.494G>C | dbSNP |
12 | g.102852922C>T | CA145982 | PAH | c.735G>A (p.Val245=) c.720G>A (p.Val240=) n.494G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.102852922C>A | CA481331559 | PAH | c.735G>T (p.Val245=) c.720G>T (p.Val240=) n.494G>T | dbSNP |