Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.113879741C>T | CA4445281 | PPP1R3A | c.1351G>A (p.Val451Met) c.388G>A (p.Val130Met) c.748G>A (p.Val250Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.113879741C>G | CA369102413 | PPP1R3A | c.1351G>C (p.Val451Leu) c.388G>C (p.Val130Leu) c.748G>C (p.Val250Leu) | dbSNP |
7 | g.113879741C>A | CA369102412 | PPP1R3A | c.1351G>T (p.Val451Leu) c.388G>T (p.Val130Leu) c.748G>T (p.Val250Leu) | dbSNP |