| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113282867A>G | CA301021 | ANK2 | c.2125A>G (p.Thr709Ala) c.2119A>G (p.Thr707Ala) n.5400A>G n.2281A>G n.2210A>G n.2086A>G n.1150A>G n.1071A>G c.2074A>G (p.Thr692Ala) c.2011A>G (p.Thr671Ala) c.1987A>G (p.Thr663Ala) c.1912A>G (p.Thr638Ala) c.1990A>G (p.Thr664Ala) c.1789A>G (p.Thr597Ala) c.1888A>G (p.Thr630Ala) c.1975A>G (p.Thr659Ala) c.1591A>G (p.Thr531Ala) c.1645A>G (p.Thr549Ala) c.1741A>G (p.Thr581Ala) c.2170A>G (p.Thr724Ala) c.2146A>G (p.Thr716Ala) c.2056A>G (p.Thr686Ala) c.2032A>G (p.Thr678Ala) c.1864A>G (p.Thr622Ala) c.1876A>G (p.Thr626Ala) c.2101A>G (p.Thr701Ala) c.2062A>G (p.Thr688Ala) c.1690A>G (p.Thr564Ala) c.2038A>G (p.Thr680Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113282867A= | CA3111780734 | ANK2 | c.2125A= (p.Thr709=) c.2119A= (p.Thr707=) n.5400A= n.2281A= n.2210A= n.2086A= n.1150A= n.1071A= c.2074A= (p.Thr692=) c.2011A= (p.Thr671=) c.1987A= (p.Thr663=) c.1912A= (p.Thr638=) c.1990A= (p.Thr664=) c.1789A= (p.Thr597=) c.1888A= (p.Thr630=) c.1975A= (p.Thr659=) c.1591A= (p.Thr531=) c.1645A= (p.Thr549=) c.1741A= (p.Thr581=) c.2170A= (p.Thr724=) c.2146A= (p.Thr716=) c.2056A= (p.Thr686=) c.2032A= (p.Thr678=) c.1864A= (p.Thr622=) c.1876A= (p.Thr626=) c.2101A= (p.Thr701=) c.2062A= (p.Thr688=) c.1690A= (p.Thr564=) c.2038A= (p.Thr680=) | dbSNP |