| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.115030304C>G | CA5207479 | TNC | c.4111G>C (p.Glu1371Gln) c.4933G>C (p.Glu1645Gln) c.2965G>C (p.Glu989Gln) c.1621G>C (p.Glu541Gln) c.4980G>C c.6022G>C (p.Glu2008Gln) c.5476G>C (p.Glu1826Gln) c.5203G>C (p.Glu1735Gln) n.604G>C c.1709G>C c.5749G>C (p.Glu1917Gln) c.4930G>C (p.Glu1644Gln) c.4384G>C (p.Glu1462Gln) c.6298G>C (p.Glu2100Gln) c.6025G>C (p.Glu2009Gln) c.5479G>C (p.Glu1827Gln) c.5206G>C (p.Glu1736Gln) c.4657G>C (p.Glu1553Gln) c.6571G>C (p.Glu2191Gln) c.6295G>C (p.Glu2099Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.115030304C= | CA1874111530 | TNC | c.4111G= (p.Glu1371=) c.4933G= (p.Glu1645=) c.2965G= (p.Glu989=) c.1621G= (p.Glu541=) c.4980G= c.6022G= (p.Glu2008=) c.5476G= (p.Glu1826=) c.5203G= (p.Glu1735=) n.604G= c.1709G= c.5749G= (p.Glu1917=) c.4930G= (p.Glu1644=) c.4384G= (p.Glu1462=) c.6298G= (p.Glu2100=) c.6025G= (p.Glu2009=) c.5479G= (p.Glu1827=) c.5206G= (p.Glu1736=) c.4657G= (p.Glu1553=) c.6571G= (p.Glu2191=) c.6295G= (p.Glu2099=) | dbSNP |