| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.198718267A>C | CA344039534 | PTPRC | n.677A>C n.5454A>C c.1339A>C (p.Lys447Gln) c.586A>C (p.Lys196Gln) c.99A>C c.1141A>C (p.Lys381Gln) c.1624A>C (p.Lys542Gln) c.1426A>C (p.Lys476Gln) n.616A>C c.1480A>C (p.Lys494Gln) c.1282A>C (p.Lys428Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.198718267A>G | CA1314839 | PTPRC | n.677A>G n.5454A>G c.1339A>G (p.Lys447Glu) c.586A>G (p.Lys196Glu) c.99A>G c.1141A>G (p.Lys381Glu) c.1624A>G (p.Lys542Glu) c.1426A>G (p.Lys476Glu) n.616A>G c.1480A>G (p.Lys494Glu) c.1282A>G (p.Lys428Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.198718267A>T | CA144640 | PTPRC | n.677A>T n.5454A>T c.1339A>T (p.Lys447Ter) c.586A>T (p.Lys196Ter) c.99A>T c.1141A>T (p.Lys381Ter) c.1624A>T (p.Lys542Ter) c.1426A>T (p.Lys476Ter) n.616A>T c.1480A>T (p.Lys494Ter) c.1282A>T (p.Lys428Ter) | ClinVar dbSNP |