Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87544882G>T | CA368058866 | ABCB1 | c.2005C>A (p.Arg669Ser) c.1813C>A (p.Arg605Ser) c.2215C>A (p.Arg739Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.87544882G>A | CA4328153 | ABCB1 | c.2005C>T (p.Arg669Cys) c.1813C>T (p.Arg605Cys) c.2215C>T (p.Arg739Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |