| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73610433C>T | CA263921 | SLC17A5 | c.1226G>A (p.Gly409Glu) c.1175G>A (p.Gly392Glu) c.1028G>A (p.Gly343Glu) c.1111+4882G>A (n.1111+4882G>A) c.995G>A (p.Gly332Glu) c.1247G>A (p.Gly416Glu) c.1139G>A (p.Gly380Glu) c.1067G>A (p.Gly356Glu) c.1223G>A (p.Gly408Glu) c.908G>A (p.Gly303Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73610433C= | CA1638229749 | SLC17A5 | c.1226G= (p.Gly409=) c.1175G= (p.Gly392=) c.1028G= (p.Gly343=) c.1111+4882G= (n.1111+4882G=) c.995G= (p.Gly332=) c.1247G= (p.Gly416=) c.1139G= (p.Gly380=) c.1067G= (p.Gly356=) c.1223G= (p.Gly408=) c.908G= (p.Gly303=) | dbSNP |