| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.5210751G>A | CA9108780 | PTPRS | n.599C>T n.424C>T c.5289C>T (p.Asp1763=) c.3948C>T (p.Asp1316=) c.5175C>T (p.Asp1725=) c.3960C>T (p.Asp1320=) n.4230C>T c.5250C>T (p.Asp1750=) c.5163C>T (p.Asp1721=) c.3936C>T (p.Asp1312=) c.5277C>T (p.Asp1759=) c.5265C>T (p.Asp1755=) c.5229C>T (p.Asp1743=) c.5217C>T (p.Asp1739=) c.5190C>T (p.Asp1730=) c.4023C>T (p.Asp1341=) c.4011C>T (p.Asp1337=) c.3975C>T (p.Asp1325=) c.3996C>T (p.Asp1332=) c.2916C>T (p.Asp972=) c.5262C>T (p.Asp1754=) c.5235C>T (p.Asp1745=) c.5214C>T (p.Asp1738=) c.5202C>T (p.Asp1734=) c.4536C>T (p.Asp1512=) c.4008C>T (p.Asp1336=) c.5223C>T (p.Asp1741=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5210751G= | CA2319812214 | PTPRS | n.599C= n.424C= c.5289C= (p.Asp1763=) c.3948C= (p.Asp1316=) c.5175C= (p.Asp1725=) c.3960C= (p.Asp1320=) n.4230C= c.5250C= (p.Asp1750=) c.5163C= (p.Asp1721=) c.3936C= (p.Asp1312=) c.5277C= (p.Asp1759=) c.5265C= (p.Asp1755=) c.5229C= (p.Asp1743=) c.5217C= (p.Asp1739=) c.5190C= (p.Asp1730=) c.4023C= (p.Asp1341=) c.4011C= (p.Asp1337=) c.3975C= (p.Asp1325=) c.3996C= (p.Asp1332=) c.2916C= (p.Asp972=) c.5262C= (p.Asp1754=) c.5235C= (p.Asp1745=) c.5214C= (p.Asp1738=) c.5202C= (p.Asp1734=) c.4536C= (p.Asp1512=) c.4008C= (p.Asp1336=) c.5223C= (p.Asp1741=) | dbSNP |