| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.60145969T>C | CA5512746 | ANK3 | c.2576-6882A>G (n.2576-6882A>G) c.2616A>G (p.Lys872=) c.2615-6882A>G (n.2615-6882A>G) c.2597-6882A>G (n.2597-6882A>G) c.105A>G (p.Lys35=) c.189A>G (p.Lys63=) c.*1184-6882A>G (n.*1184-6882A>G) c.2667A>G (p.Lys889=) c.2655A>G (p.Lys885=) c.2649A>G (p.Lys883=) c.2610A>G (p.Lys870=) c.2589A>G (p.Lys863=) c.2568A>G (p.Lys856=) c.2556A>G (p.Lys852=) c.2552-6882A>G (n.2552-6882A>G) c.2604A>G (p.Lys868=) c.2564-6882A>G (n.2564-6882A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.60145969T= | CA1913778373 | ANK3 | c.2576-6882A= (n.2576-6882A=) c.2616A= (p.Lys872=) c.2615-6882A= (n.2615-6882A=) c.2597-6882A= (n.2597-6882A=) c.105A= (p.Lys35=) c.189A= (p.Lys63=) c.*1184-6882A= (n.*1184-6882A=) c.2667A= (p.Lys889=) c.2655A= (p.Lys885=) c.2649A= (p.Lys883=) c.2610A= (p.Lys870=) c.2589A= (p.Lys863=) c.2568A= (p.Lys856=) c.2556A= (p.Lys852=) c.2552-6882A= (n.2552-6882A=) c.2604A= (p.Lys868=) c.2564-6882A= (n.2564-6882A=) | dbSNP |