| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.1014359G>A | CA337805402 | ISG15 | c.355G>A (p.Glu119Lys) c.379G>A (p.Glu127Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.1014359G>T | CA174067 | ISG15 | c.355G>T (p.Glu119Ter) c.379G>T (p.Glu127Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.1014359G= | CA1148224141 | ISG15 | c.355G= (p.Glu119=) c.379G= (p.Glu127=) | dbSNP |
| 1 | g.1014359G>C | CA337805405 | ISG15 | c.355G>C (p.Glu119Gln) c.379G>C (p.Glu127Gln) | dbSNP gnomAD v4 |