Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.87550493C>A | CA162123283 | ABCB1 | c.1199G>T (p.Ser400Ile) c.1007G>T (p.Ser336Ile) c.1409G>T (p.Ser470Ile) | dbSNP |
7 | g.87550493C>T | CA200911 | ABCB1 | c.1199G>A (p.Ser400Asn) c.1007G>A (p.Ser336Asn) c.1409G>A (p.Ser470Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |