| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.4583108G>A | CA357896 | SLC1A1,SPATA6L | c.1264G>A (p.Val422Met) c.481-2204G>A c.*781+17545C>T (n.*781+17545C>T) c.1333G>A (p.Val445Met) c.1273G>A (p.Val425Met) c.1204G>A (p.Val402Met) c.1123G>A (p.Val375Met) c.*1+21071C>T (n.*1+21071C>T) c.1225G>A (p.Val409Met) c.1156G>A (p.Val386Met) n.1478+17545C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.4583108G= | CA1829393811 | SLC1A1,SPATA6L | c.1264G= (p.Val422=) c.481-2204G= c.*781+17545C= (n.*781+17545C=) c.1333G= (p.Val445=) c.1273G= (p.Val425=) c.1204G= (p.Val402=) c.1123G= (p.Val375=) c.*1+21071C= (n.*1+21071C=) c.1225G= (p.Val409=) c.1156G= (p.Val386=) n.1478+17545C= | dbSNP |