| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.69087895G>A | CA114459 | TPCN2 | c.1058G>A (p.Gly353Glu) c.2201G>A (p.Gly734Glu) c.*396G>A (n.*396G>A) c.2003+1965G>A (n.2003+1965G>A) c.*33+2609G>A (n.*33+2609G>A) n.1667G>A c.1655G>A (p.Gly552Glu) c.2198G>A (p.Gly733Glu) c.1946G>A (p.Gly649Glu) c.1508G>A (p.Gly503Glu) c.1478G>A (p.Gly493Glu) c.1639+6396G>A (n.1639+6396G>A) c.1689+6396G>A (n.1689+6396G>A) c.1961G>A (p.Gly654Glu) c.1505G>A (p.Gly502Glu) c.1370G>A (p.Gly457Glu) n.2252G>A c.1982G>A (p.Gly661Glu) c.1979G>A (p.Gly660Glu) c.1292G>A (p.Gly431Glu) c.1259G>A (p.Gly420Glu) c.1151G>A (p.Gly384Glu) c.1991G>A (p.Gly664Glu) n.2133G>A n.2255G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.69087895G= | CA2497029811 | TPCN2 | c.1058G= (p.Gly353=) c.2201G= (p.Gly734=) c.*396G= (n.*396G=) c.2003+1965G= (n.2003+1965G=) c.*33+2609G= (n.*33+2609G=) n.1667G= c.1655G= (p.Gly552=) c.2198G= (p.Gly733=) c.1946G= (p.Gly649=) c.1508G= (p.Gly503=) c.1478G= (p.Gly493=) c.1639+6396G= (n.1639+6396G=) c.1689+6396G= (n.1689+6396G=) c.1961G= (p.Gly654=) c.1505G= (p.Gly502=) c.1370G= (p.Gly457=) n.2252G= c.1982G= (p.Gly661=) c.1979G= (p.Gly660=) c.1292G= (p.Gly431=) c.1259G= (p.Gly420=) c.1151G= (p.Gly384=) c.1991G= (p.Gly664=) n.2133G= n.2255G= | dbSNP |