| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.78481962C>T | CA115769 | FRAS1 | c.8602C>T (p.Gln2868Ter) c.8596C>T (p.Gln2866Ter) c.8374C>T (p.Gln2792Ter) c.6301C>T (p.Gln2101Ter) c.3490C>T (p.Gln1164Ter) | ClinVar dbSNP gnomAD v4 |
| 4 | g.78481962C= | CA1470514510 | FRAS1 | c.8602C= (p.Gln2868=) c.8596C= (p.Gln2866=) c.8374C= (p.Gln2792=) c.6301C= (p.Gln2101=) c.3490C= (p.Gln1164=) | dbSNP |