| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.44301076G>A | CA127836 | SLC3A1 | c.1085G>A (p.Arg362His) c.*1096G>A (n.*1096G>A) c.-5+986G>A (n.-5+986G>A) c.251G>A (p.Arg84His) c.419G>A (p.Arg140His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.44301076G= | CA2494208443 | SLC3A1 | c.1085G= (p.Arg362=) c.*1096G= (n.*1096G=) c.-5+986G= (n.-5+986G=) c.251G= (p.Arg84=) c.419G= (p.Arg140=) | dbSNP |