| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.84935179A>T | CA393374594 | SLC28A1 | c.1368A>T (p.Gln456His) c.1084-8266A>T (n.1084-8266A>T) c.1341A>T (p.Gln447His) c.1290A>T (p.Gln430His) c.1134A>T (p.Gln378His) n.1443A>T c.327A>T (p.Gln109His) | dbSNP gnomAD v4 |
| 15 | g.84935179A>G | CA7710787 | SLC28A1 | c.1368A>G (p.Gln456=) c.1084-8266A>G (n.1084-8266A>G) c.1341A>G (p.Gln447=) c.1290A>G (p.Gln430=) c.1134A>G (p.Gln378=) n.1443A>G c.327A>G (p.Gln109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |