Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.142915100G>A | CA038796 | CYP11B2,GML | c.541C>T (p.Arg181Trp) c.264+1055G>A (n.264+1055G>A) c.619C>T (p.Arg207Trp) c.297+1055G>A (n.297+1055G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.142915100G>T | CA463335692 | CYP11B2,GML | c.541C>A (p.Arg181=) c.264+1055G>T (n.264+1055G>T) c.619C>A (p.Arg207=) c.297+1055G>T (n.297+1055G>T) | dbSNP |