| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.84935465C>T | CA7710843 | SLC28A1 | c.1528C>T (p.Arg510Cys) c.1084-7980C>T (n.1084-7980C>T) c.1501C>T (p.Arg501Cys) c.1450C>T (p.Arg484Cys) c.1294C>T (p.Arg432Cys) n.1603C>T c.487C>T (p.Arg163Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84935465C>G | CA393375983 | SLC28A1 | c.1528C>G (p.Arg510Gly) c.1084-7980C>G (n.1084-7980C>G) c.1501C>G (p.Arg501Gly) c.1450C>G (p.Arg484Gly) c.1294C>G (p.Arg432Gly) n.1603C>G c.487C>G (p.Arg163Gly) | dbSNP |
| 15 | g.84935465C>A | CA393375982 | SLC28A1 | c.1528C>A (p.Arg510Ser) c.1084-7980C>A (n.1084-7980C>A) c.1501C>A (p.Arg501Ser) c.1450C>A (p.Arg484Ser) c.1294C>A (p.Arg432Ser) n.1603C>A c.487C>A (p.Arg163Ser) | dbSNP |
| 15 | g.84935465C= | CA2192431347 | SLC28A1 | c.1528C= (p.Arg510=) c.1084-7980C= (n.1084-7980C=) c.1501C= (p.Arg501=) c.1450C= (p.Arg484=) c.1294C= (p.Arg432=) n.1603C= c.487C= (p.Arg163=) | dbSNP |