| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.4585316C>T | CA170708 | SLC1A1,SPATA6L | c.1333C>T (p.Arg445Trp) c.485C>T c.*781+15337G>A (n.*781+15337G>A) c.1402C>T (p.Arg468Trp) c.1342C>T (p.Arg448Trp) c.1273C>T (p.Arg425Trp) c.1192C>T (p.Arg398Trp) c.*1+18863G>A (n.*1+18863G>A) c.1294C>T (p.Arg432Trp) c.1225C>T (p.Arg409Trp) n.1478+15337G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 9 | g.4585316C= | CA1829397288 | SLC1A1,SPATA6L | c.1333C= (p.Arg445=) c.485C= c.*781+15337G= (n.*781+15337G=) c.1402C= (p.Arg468=) c.1342C= (p.Arg448=) c.1273C= (p.Arg425=) c.1192C= (p.Arg398=) c.*1+18863G= (n.*1+18863G=) c.1294C= (p.Arg432=) c.1225C= (p.Arg409=) n.1478+15337G= | dbSNP |