| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.60114271C>G | CA186036 | ANK3 | c.2860G>C (p.Asp954His) c.2905G>C (p.Asp969His) c.2902G>C (p.Asp968His) c.304G>C (p.Asp102His) c.277G>C (p.Asp93His) c.2884G>C (p.Asp962His) c.300G>C c.*1468G>C (n.*1468G>C) c.2956G>C (p.Asp986His) c.2968G>C (p.Asp990His) c.2950G>C (p.Asp984His) c.2911G>C (p.Asp971His) c.2890G>C (p.Asp964His) c.2869G>C (p.Asp957His) c.2857G>C (p.Asp953His) c.316G>C (p.Asp106His) c.2839G>C (p.Asp947His) c.2953G>C (p.Asp985His) c.2917G>C (p.Asp973His) c.2941G>C (p.Asp981His) c.2836G>C (p.Asp946His) c.2887G>C (p.Asp963His) c.2914G>C (p.Asp972His) c.2851G>C (p.Asp951His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.60114271C= | CA1913782900 | ANK3 | c.2860G= (p.Asp954=) c.2905G= (p.Asp969=) c.2902G= (p.Asp968=) c.304G= (p.Asp102=) c.277G= (p.Asp93=) c.2884G= (p.Asp962=) c.300G= c.*1468G= (n.*1468G=) c.2956G= (p.Asp986=) c.2968G= (p.Asp990=) c.2950G= (p.Asp984=) c.2911G= (p.Asp971=) c.2890G= (p.Asp964=) c.2869G= (p.Asp957=) c.2857G= (p.Asp953=) c.316G= (p.Asp106=) c.2839G= (p.Asp947=) c.2953G= (p.Asp985=) c.2917G= (p.Asp973=) c.2941G= (p.Asp981=) c.2836G= (p.Asp946=) c.2887G= (p.Asp963=) c.2914G= (p.Asp972=) c.2851G= (p.Asp951=) | dbSNP |