| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.134608443C>T | CA115876 | SAR1B | c.409G>A (p.Asp137Asn) c.205G>A (p.Asp69Asn) c.*132G>A (n.*132G>A) n.2378G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.134608443C>G | CA361000166 | SAR1B | c.409G>C (p.Asp137His) c.205G>C (p.Asp69His) c.*132G>C (n.*132G>C) n.2378G>C | dbSNP gnomAD v4 |
| 5 | g.134608443C= | CA1584150482 | SAR1B | c.409G= (p.Asp137=) c.205G= (p.Asp69=) c.*132G= (n.*132G=) n.2378G= | dbSNP |