Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108598705G>A | CA258546 | COL4A5 | c.1783G>A (p.Gly595Arg) n.1239G>A c.1459G>A (p.Gly487Arg) c.1798G>A (p.Gly600Arg) c.118G>A (p.Gly40Arg) | dbSNP |
X | g.108598705G= | CA2450688803 | COL4A5 | c.1783G= (p.Gly595=) n.1239G= c.1459G= (p.Gly487=) c.1798G= (p.Gly600=) c.118G= (p.Gly40=) | dbSNP |