Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.34834426C>G | CA4215945 | NPSR1 | c.723C>G (p.Ser241Arg) c.525C>G (p.Ser175Arg) c.*142C>G (n.*142C>G) c.*218C>G (n.*218C>G) c.690C>G (p.Ser230Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.34834426C>T | CA4215946 | NPSR1 | c.723C>T (p.Ser241=) c.525C>T (p.Ser175=) c.*142C>T (n.*142C>T) c.*218C>T (n.*218C>T) c.690C>T (p.Ser230=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |