| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.50496039G>C | CA120070 | NRXN1 | c.2936C>G (p.Ser979Ter) n.912C>G n.1835C>G n.103C>G c.2090C>G (p.Ser697Ter) c.2081C>G (p.Ser694Ter) c.3056C>G (p.Ser1019Ter) c.2900C>G (p.Ser967Ter) c.2126C>G (p.Ser709Ter) c.38C>G (p.Ser13Ter) c.2912C>G (p.Ser971Ter) c.2957C>G (p.Ser986Ter) c.2954C>G (p.Ser985Ter) c.2945C>G (p.Ser982Ter) c.2939C>G (p.Ser980Ter) c.2930C>G (p.Ser977Ter) c.2927C>G (p.Ser976Ter) c.2897C>G (p.Ser966Ter) c.2867C>G (p.Ser956Ter) c.2162C>G (p.Ser721Ter) c.2117C>G (p.Ser706Ter) c.1997C>G (p.Ser666Ter) c.2870C>G (p.Ser957Ter) c.2909C>G (p.Ser970Ter) c.2825C>G (p.Ser942Ter) c.2855C>G (p.Ser952Ter) c.2933C>G (p.Ser978Ter) c.2924C>G (p.Ser975Ter) c.2885C>G (p.Ser962Ter) c.2894C>G (p.Ser965Ter) c.2918C>G (p.Ser973Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.50496039G= | CA1249594063 | NRXN1 | c.2936C= (p.Ser979=) n.912C= n.1835C= n.103C= c.2090C= (p.Ser697=) c.2081C= (p.Ser694=) c.3056C= (p.Ser1019=) c.2900C= (p.Ser967=) c.2126C= (p.Ser709=) c.38C= (p.Ser13=) c.2912C= (p.Ser971=) c.2957C= (p.Ser986=) c.2954C= (p.Ser985=) c.2945C= (p.Ser982=) c.2939C= (p.Ser980=) c.2930C= (p.Ser977=) c.2927C= (p.Ser976=) c.2897C= (p.Ser966=) c.2867C= (p.Ser956=) c.2162C= (p.Ser721=) c.2117C= (p.Ser706=) c.1997C= (p.Ser666=) c.2870C= (p.Ser957=) c.2909C= (p.Ser970=) c.2825C= (p.Ser942=) c.2855C= (p.Ser952=) c.2933C= (p.Ser978=) c.2924C= (p.Ser975=) c.2885C= (p.Ser962=) c.2894C= (p.Ser965=) c.2918C= (p.Ser973=) | dbSNP |