| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.50497380A>C | CA16604353 | NRXN1 | c.2832T>G (p.Tyr944Ter) n.808T>G n.1731T>G c.1986T>G (p.Tyr662Ter) c.1977T>G (p.Tyr659Ter) c.2952T>G (p.Tyr984Ter) c.2796T>G (p.Tyr932Ter) c.2022T>G (p.Tyr674Ter) c.2808T>G (p.Tyr936Ter) c.2853T>G (p.Tyr951Ter) c.2850T>G (p.Tyr950Ter) c.2841T>G (p.Tyr947Ter) c.2835T>G (p.Tyr945Ter) c.2826T>G (p.Tyr942Ter) c.2823T>G (p.Tyr941Ter) c.2793T>G (p.Tyr931Ter) c.2763T>G (p.Tyr921Ter) c.2058T>G (p.Tyr686Ter) c.2013T>G (p.Tyr671Ter) c.1893T>G (p.Tyr631Ter) c.2766T>G (p.Tyr922Ter) c.2805T>G (p.Tyr935Ter) c.2721T>G (p.Tyr907Ter) c.2751T>G (p.Tyr917Ter) c.2829T>G (p.Tyr943Ter) c.2820T>G (p.Tyr940Ter) c.2781T>G (p.Tyr927Ter) c.2790T>G (p.Tyr930Ter) c.2814T>G (p.Tyr938Ter) | ClinVar dbSNP |
| 2 | g.50497380A= | CA1249594733 | NRXN1 | c.2832T= (p.Tyr944=) n.808T= n.1731T= c.1986T= (p.Tyr662=) c.1977T= (p.Tyr659=) c.2952T= (p.Tyr984=) c.2796T= (p.Tyr932=) c.2022T= (p.Tyr674=) c.2808T= (p.Tyr936=) c.2853T= (p.Tyr951=) c.2850T= (p.Tyr950=) c.2841T= (p.Tyr947=) c.2835T= (p.Tyr945=) c.2826T= (p.Tyr942=) c.2823T= (p.Tyr941=) c.2793T= (p.Tyr931=) c.2763T= (p.Tyr921=) c.2058T= (p.Tyr686=) c.2013T= (p.Tyr671=) c.1893T= (p.Tyr631=) c.2766T= (p.Tyr922=) c.2805T= (p.Tyr935=) c.2721T= (p.Tyr907=) c.2751T= (p.Tyr917=) c.2829T= (p.Tyr943=) c.2820T= (p.Tyr940=) c.2781T= (p.Tyr927=) c.2790T= (p.Tyr930=) c.2814T= (p.Tyr938=) | dbSNP |
| 2 | g.50497380A>G | CA426023348 | NRXN1 | c.2832T>C (p.Tyr944=) n.808T>C n.1731T>C c.1986T>C (p.Tyr662=) c.1977T>C (p.Tyr659=) c.2952T>C (p.Tyr984=) c.2796T>C (p.Tyr932=) c.2022T>C (p.Tyr674=) c.2808T>C (p.Tyr936=) c.2853T>C (p.Tyr951=) c.2850T>C (p.Tyr950=) c.2841T>C (p.Tyr947=) c.2835T>C (p.Tyr945=) c.2826T>C (p.Tyr942=) c.2823T>C (p.Tyr941=) c.2793T>C (p.Tyr931=) c.2763T>C (p.Tyr921=) c.2058T>C (p.Tyr686=) c.2013T>C (p.Tyr671=) c.1893T>C (p.Tyr631=) c.2766T>C (p.Tyr922=) c.2805T>C (p.Tyr935=) c.2721T>C (p.Tyr907=) c.2751T>C (p.Tyr917=) c.2829T>C (p.Tyr943=) c.2820T>C (p.Tyr940=) c.2781T>C (p.Tyr927=) c.2790T>C (p.Tyr930=) c.2814T>C (p.Tyr938=) | dbSNP gnomAD v4 |