| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.39357302A>G | CA3793798 | KIF6 | c.2155T>C (p.Trp719Arg) c.508T>C (p.Trp170Arg) c.1830T>C c.2104T>C (p.Trp702Arg) c.1987T>C (p.Trp663Arg) c.1528T>C (p.Trp510Arg) c.1846T>C (p.Trp616Arg) c.1510T>C (p.Trp504Arg) n.75+5354A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.39357302A>T | CA364350067 | KIF6 | c.2155T>A (p.Trp719Arg) c.508T>A (p.Trp170Arg) c.1830T>A c.2104T>A (p.Trp702Arg) c.1987T>A (p.Trp663Arg) c.1528T>A (p.Trp510Arg) c.1846T>A (p.Trp616Arg) c.1510T>A (p.Trp504Arg) n.75+5354A>T | dbSNP gnomAD v4 |
| 6 | g.39357302A= | CA1622646798 | KIF6 | c.2155T= (p.Trp719=) c.508T= (p.Trp170=) c.1830T= c.2104T= (p.Trp702=) c.1987T= (p.Trp663=) c.1528T= (p.Trp510=) c.1846T= (p.Trp616=) c.1510T= (p.Trp504=) n.75+5354A= | dbSNP |
| 6 | g.39357302A>C | CA364350065 | KIF6 | c.2155T>G (p.Trp719Gly) c.508T>G (p.Trp170Gly) c.1830T>G c.2104T>G (p.Trp702Gly) c.1987T>G (p.Trp663Gly) c.1528T>G (p.Trp510Gly) c.1846T>G (p.Trp616Gly) c.1510T>G (p.Trp504Gly) n.75+5354A>C | dbSNP |