| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.198754304T>C | CA235772 | PTPRC | n.2598T>C c.3260T>C (p.Leu1087Ser) c.2507T>C (p.Leu836Ser) c.2152T>C n.498T>C c.3062T>C (p.Leu1021Ser) c.3545T>C (p.Leu1182Ser) n.454T>C c.3401T>C (p.Leu1134Ser) c.3347T>C (p.Leu1116Ser) c.3203T>C (p.Leu1068Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.198754304T= | CA1141436199 | PTPRC | n.2598T= c.3260T= (p.Leu1087=) c.2507T= (p.Leu836=) c.2152T= n.498T= c.3062T= (p.Leu1021=) c.3545T= (p.Leu1182=) n.454T= c.3401T= (p.Leu1134=) c.3347T= (p.Leu1116=) c.3203T= (p.Leu1068=) | dbSNP |