| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.50054994G>T | CA47835842 | NRXN1 | c.3769C>A (p.Arg1257=) n.936C>A c.606-1404C>A (n.606-1404C>A) c.614-1404C>A (n.614-1404C>A) c.664C>A (p.Arg222=) c.3889C>A (p.Arg1297=) c.3733C>A (p.Arg1245=) c.3719-1404C>A (n.3719-1404C>A) c.-119-1404C>A (n.-119-1404C>A) c.3745C>A (p.Arg1249=) n.578C>A c.3790C>A (p.Arg1264=) c.3740-1404C>A (n.3740-1404C>A) c.3787C>A (p.Arg1263=) c.3778C>A (p.Arg1260=) c.3772C>A (p.Arg1258=) c.3763C>A (p.Arg1255=) c.3760C>A (p.Arg1254=) c.3730C>A (p.Arg1244=) c.3700C>A (p.Arg1234=) c.3695-1404C>A (n.3695-1404C>A) c.2995C>A (p.Arg999=) c.2950C>A (p.Arg984=) c.2923C>A (p.Arg975=) c.2830C>A (p.Arg944=) c.3653-1404C>A (n.3653-1404C>A) c.3703C>A (p.Arg1235=) c.3742C>A (p.Arg1248=) c.3608-1404C>A (n.3608-1404C>A) c.3638-1404C>A (n.3638-1404C>A) c.3766C>A (p.Arg1256=) c.3757C>A (p.Arg1253=) c.3668-1404C>A (n.3668-1404C>A) c.3817C>A (p.Arg1273=) c.3814C>A (p.Arg1272=) c.3805C>A (p.Arg1269=) c.3799C>A (p.Arg1267=) c.3796C>A (p.Arg1266=) c.3754C>A (p.Arg1252=) c.3767-1404C>A (n.3767-1404C>A) c.3713-1404C>A (n.3713-1404C>A) c.3701-1404C>A (n.3701-1404C>A) c.2857C>A (p.Arg953=) | dbSNP gnomAD v4 |
| 2 | g.50054994G>A | CA16617736 | NRXN1 | c.3769C>T (p.Arg1257Ter) n.936C>T c.606-1404C>T (n.606-1404C>T) c.614-1404C>T (n.614-1404C>T) c.664C>T (p.Arg222Ter) c.3889C>T (p.Arg1297Ter) c.3733C>T (p.Arg1245Ter) c.3719-1404C>T (n.3719-1404C>T) c.-119-1404C>T (n.-119-1404C>T) c.3745C>T (p.Arg1249Ter) n.578C>T c.3790C>T (p.Arg1264Ter) c.3740-1404C>T (n.3740-1404C>T) c.3787C>T (p.Arg1263Ter) c.3778C>T (p.Arg1260Ter) c.3772C>T (p.Arg1258Ter) c.3763C>T (p.Arg1255Ter) c.3760C>T (p.Arg1254Ter) c.3730C>T (p.Arg1244Ter) c.3700C>T (p.Arg1234Ter) c.3695-1404C>T (n.3695-1404C>T) c.2995C>T (p.Arg999Ter) c.2950C>T (p.Arg984Ter) c.2923C>T (p.Arg975Ter) c.2830C>T (p.Arg944Ter) c.3653-1404C>T (n.3653-1404C>T) c.3703C>T (p.Arg1235Ter) c.3742C>T (p.Arg1248Ter) c.3608-1404C>T (n.3608-1404C>T) c.3638-1404C>T (n.3638-1404C>T) c.3766C>T (p.Arg1256Ter) c.3757C>T (p.Arg1253Ter) c.3668-1404C>T (n.3668-1404C>T) c.3817C>T (p.Arg1273Ter) c.3814C>T (p.Arg1272Ter) c.3805C>T (p.Arg1269Ter) c.3799C>T (p.Arg1267Ter) c.3796C>T (p.Arg1266Ter) c.3754C>T (p.Arg1252Ter) c.3767-1404C>T (n.3767-1404C>T) c.3713-1404C>T (n.3713-1404C>T) c.3701-1404C>T (n.3701-1404C>T) c.2857C>T (p.Arg953Ter) | ClinVar dbSNP gnomAD v4 |