| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.60108958C>A | CA151784 | ANK3 | c.3003G>T (p.Thr1001=) c.3048G>T (p.Thr1016=) c.3045G>T (p.Thr1015=) c.447G>T (p.Thr149=) c.420G>T (p.Thr140=) c.3027G>T (p.Thr1009=) c.119G>T c.97G>T c.476G>T c.*1644G>T (n.*1644G>T) c.3099G>T (p.Thr1033=) c.3111G>T (p.Thr1037=) c.3093G>T (p.Thr1031=) c.3054G>T (p.Thr1018=) c.3033G>T (p.Thr1011=) c.3012G>T (p.Thr1004=) c.3000G>T (p.Thr1000=) c.459G>T (p.Thr153=) c.2982G>T (p.Thr994=) c.3096G>T (p.Thr1032=) c.3060G>T (p.Thr1020=) c.3084G>T (p.Thr1028=) c.2979G>T (p.Thr993=) c.3030G>T (p.Thr1010=) c.3057G>T (p.Thr1019=) c.2994G>T (p.Thr998=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.60108958C>T | CA5512582 | ANK3 | c.3003G>A (p.Thr1001=) c.3048G>A (p.Thr1016=) c.3045G>A (p.Thr1015=) c.447G>A (p.Thr149=) c.420G>A (p.Thr140=) c.3027G>A (p.Thr1009=) c.119G>A c.97G>A c.476G>A c.*1644G>A (n.*1644G>A) c.3099G>A (p.Thr1033=) c.3111G>A (p.Thr1037=) c.3093G>A (p.Thr1031=) c.3054G>A (p.Thr1018=) c.3033G>A (p.Thr1011=) c.3012G>A (p.Thr1004=) c.3000G>A (p.Thr1000=) c.459G>A (p.Thr153=) c.2982G>A (p.Thr994=) c.3096G>A (p.Thr1032=) c.3060G>A (p.Thr1020=) c.3084G>A (p.Thr1028=) c.2979G>A (p.Thr993=) c.3030G>A (p.Thr1010=) c.3057G>A (p.Thr1019=) c.2994G>A (p.Thr998=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |