| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.234231518C>A | CA424048159 | SLC35F3 | c.385C>A (p.Arg129=) c.178C>A (p.Arg60=) | dbSNP gnomAD v2 |
| 1 | g.234231518C>T | CA39480186 | SLC35F3 | c.385C>T (p.Arg129Trp) c.178C>T (p.Arg60Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.234231518C>G | CA1459621 | SLC35F3 | c.385C>G (p.Arg129Gly) c.178C>G (p.Arg60Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.234231518C= | CA1140498465 | SLC35F3 | c.385C= (p.Arg129=) c.178C= (p.Arg60=) | dbSNP |