| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 2 | g.50054994G>C | CA346820108 | NRXN1 | c.3769C>G (p.Arg1257Gly) n.936C>G c.606-1404C>G (n.606-1404C>G) c.614-1404C>G (n.614-1404C>G) c.664C>G (p.Arg222Gly) c.3889C>G (p.Arg1297Gly) c.3733C>G (p.Arg1245Gly) c.3719-1404C>G (n.3719-1404C>G) c.-119-1404C>G (n.-119-1404C>G) c.3745C>G (p.Arg1249Gly) n.578C>G c.3790C>G (p.Arg1264Gly) c.3740-1404C>G (n.3740-1404C>G) c.3787C>G (p.Arg1263Gly) c.3778C>G (p.Arg1260Gly) c.3772C>G (p.Arg1258Gly) c.3763C>G (p.Arg1255Gly) c.3760C>G (p.Arg1254Gly) c.3730C>G (p.Arg1244Gly) c.3700C>G (p.Arg1234Gly) c.3695-1404C>G (n.3695-1404C>G) c.2995C>G (p.Arg999Gly) c.2950C>G (p.Arg984Gly) c.2923C>G (p.Arg975Gly) c.2830C>G (p.Arg944Gly) c.3653-1404C>G (n.3653-1404C>G) c.3703C>G (p.Arg1235Gly) c.3742C>G (p.Arg1248Gly) c.3608-1404C>G (n.3608-1404C>G) c.3638-1404C>G (n.3638-1404C>G) c.3766C>G (p.Arg1256Gly) c.3757C>G (p.Arg1253Gly) c.3668-1404C>G (n.3668-1404C>G) c.3817C>G (p.Arg1273Gly) c.3814C>G (p.Arg1272Gly) c.3805C>G (p.Arg1269Gly) c.3799C>G (p.Arg1267Gly) c.3796C>G (p.Arg1266Gly) c.3754C>G (p.Arg1252Gly) c.3767-1404C>G (n.3767-1404C>G) c.3713-1404C>G (n.3713-1404C>G) c.3701-1404C>G (n.3701-1404C>G) c.2857C>G (p.Arg953Gly) | |
| 2 | g.50054994G= | CA1249354462 | NRXN1 | c.3769C= (p.Arg1257=) n.936C= c.606-1404C= (n.606-1404C=) c.614-1404C= (n.614-1404C=) c.664C= (p.Arg222=) c.3889C= (p.Arg1297=) c.3733C= (p.Arg1245=) c.3719-1404C= (n.3719-1404C=) c.-119-1404C= (n.-119-1404C=) c.3745C= (p.Arg1249=) n.578C= c.3790C= (p.Arg1264=) c.3740-1404C= (n.3740-1404C=) c.3787C= (p.Arg1263=) c.3778C= (p.Arg1260=) c.3772C= (p.Arg1258=) c.3763C= (p.Arg1255=) c.3760C= (p.Arg1254=) c.3730C= (p.Arg1244=) c.3700C= (p.Arg1234=) c.3695-1404C= (n.3695-1404C=) c.2995C= (p.Arg999=) c.2950C= (p.Arg984=) c.2923C= (p.Arg975=) c.2830C= (p.Arg944=) c.3653-1404C= (n.3653-1404C=) c.3703C= (p.Arg1235=) c.3742C= (p.Arg1248=) c.3608-1404C= (n.3608-1404C=) c.3638-1404C= (n.3638-1404C=) c.3766C= (p.Arg1256=) c.3757C= (p.Arg1253=) c.3668-1404C= (n.3668-1404C=) c.3817C= (p.Arg1273=) c.3814C= (p.Arg1272=) c.3805C= (p.Arg1269=) c.3799C= (p.Arg1267=) c.3796C= (p.Arg1266=) c.3754C= (p.Arg1252=) c.3767-1404C= (n.3767-1404C=) c.3713-1404C= (n.3713-1404C=) c.3701-1404C= (n.3701-1404C=) c.2857C= (p.Arg953=) | |
| 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.50054995A>C | CA346820109 | NRXN1 | c.3768T>G (p.Tyr1256Ter) n.935T>G c.606-1405T>G (n.606-1405T>G) c.614-1405T>G (n.614-1405T>G) c.663T>G (p.Tyr221Ter) c.3888T>G (p.Tyr1296Ter) c.3732T>G (p.Tyr1244Ter) c.3719-1405T>G (n.3719-1405T>G) c.-119-1405T>G (n.-119-1405T>G) c.3744T>G (p.Tyr1248Ter) n.577T>G c.3789T>G (p.Tyr1263Ter) c.3740-1405T>G (n.3740-1405T>G) c.3786T>G (p.Tyr1262Ter) c.3777T>G (p.Tyr1259Ter) c.3771T>G (p.Tyr1257Ter) c.3762T>G (p.Tyr1254Ter) c.3759T>G (p.Tyr1253Ter) c.3729T>G (p.Tyr1243Ter) c.3699T>G (p.Tyr1233Ter) c.3695-1405T>G (n.3695-1405T>G) c.2994T>G (p.Tyr998Ter) c.2949T>G (p.Tyr983Ter) c.2922T>G (p.Tyr974Ter) c.2829T>G (p.Tyr943Ter) c.3653-1405T>G (n.3653-1405T>G) c.3702T>G (p.Tyr1234Ter) c.3741T>G (p.Tyr1247Ter) c.3608-1405T>G (n.3608-1405T>G) c.3638-1405T>G (n.3638-1405T>G) c.3765T>G (p.Tyr1255Ter) c.3756T>G (p.Tyr1252Ter) c.3668-1405T>G (n.3668-1405T>G) c.3816T>G (p.Tyr1272Ter) c.3813T>G (p.Tyr1271Ter) c.3804T>G (p.Tyr1268Ter) c.3798T>G (p.Tyr1266Ter) c.3795T>G (p.Tyr1265Ter) c.3753T>G (p.Tyr1251Ter) c.3767-1405T>G (n.3767-1405T>G) c.3713-1405T>G (n.3713-1405T>G) c.3701-1405T>G (n.3701-1405T>G) c.2856T>G (p.Tyr952Ter) | |
| 2 | g.50054995A>G | CA426101663 | NRXN1 | c.3768T>C (p.Tyr1256=) n.935T>C c.606-1405T>C (n.606-1405T>C) c.614-1405T>C (n.614-1405T>C) c.663T>C (p.Tyr221=) c.3888T>C (p.Tyr1296=) c.3732T>C (p.Tyr1244=) c.3719-1405T>C (n.3719-1405T>C) c.-119-1405T>C (n.-119-1405T>C) c.3744T>C (p.Tyr1248=) n.577T>C c.3789T>C (p.Tyr1263=) c.3740-1405T>C (n.3740-1405T>C) c.3786T>C (p.Tyr1262=) c.3777T>C (p.Tyr1259=) c.3771T>C (p.Tyr1257=) c.3762T>C (p.Tyr1254=) c.3759T>C (p.Tyr1253=) c.3729T>C (p.Tyr1243=) c.3699T>C (p.Tyr1233=) c.3695-1405T>C (n.3695-1405T>C) c.2994T>C (p.Tyr998=) c.2949T>C (p.Tyr983=) c.2922T>C (p.Tyr974=) c.2829T>C (p.Tyr943=) c.3653-1405T>C (n.3653-1405T>C) c.3702T>C (p.Tyr1234=) c.3741T>C (p.Tyr1247=) c.3608-1405T>C (n.3608-1405T>C) c.3638-1405T>C (n.3638-1405T>C) c.3765T>C (p.Tyr1255=) c.3756T>C (p.Tyr1252=) c.3668-1405T>C (n.3668-1405T>C) c.3816T>C (p.Tyr1272=) c.3813T>C (p.Tyr1271=) c.3804T>C (p.Tyr1268=) c.3798T>C (p.Tyr1266=) c.3795T>C (p.Tyr1265=) c.3753T>C (p.Tyr1251=) c.3767-1405T>C (n.3767-1405T>C) c.3713-1405T>C (n.3713-1405T>C) c.3701-1405T>C (n.3701-1405T>C) c.2856T>C (p.Tyr952=) | |
| 2 | g.50054995A>T | CA346820110 | NRXN1 | c.3768T>A (p.Tyr1256Ter) n.935T>A c.606-1405T>A (n.606-1405T>A) c.614-1405T>A (n.614-1405T>A) c.663T>A (p.Tyr221Ter) c.3888T>A (p.Tyr1296Ter) c.3732T>A (p.Tyr1244Ter) c.3719-1405T>A (n.3719-1405T>A) c.-119-1405T>A (n.-119-1405T>A) c.3744T>A (p.Tyr1248Ter) n.577T>A c.3789T>A (p.Tyr1263Ter) c.3740-1405T>A (n.3740-1405T>A) c.3786T>A (p.Tyr1262Ter) c.3777T>A (p.Tyr1259Ter) c.3771T>A (p.Tyr1257Ter) c.3762T>A (p.Tyr1254Ter) c.3759T>A (p.Tyr1253Ter) c.3729T>A (p.Tyr1243Ter) c.3699T>A (p.Tyr1233Ter) c.3695-1405T>A (n.3695-1405T>A) c.2994T>A (p.Tyr998Ter) c.2949T>A (p.Tyr983Ter) c.2922T>A (p.Tyr974Ter) c.2829T>A (p.Tyr943Ter) c.3653-1405T>A (n.3653-1405T>A) c.3702T>A (p.Tyr1234Ter) c.3741T>A (p.Tyr1247Ter) c.3608-1405T>A (n.3608-1405T>A) c.3638-1405T>A (n.3638-1405T>A) c.3765T>A (p.Tyr1255Ter) c.3756T>A (p.Tyr1252Ter) c.3668-1405T>A (n.3668-1405T>A) c.3816T>A (p.Tyr1272Ter) c.3813T>A (p.Tyr1271Ter) c.3804T>A (p.Tyr1268Ter) c.3798T>A (p.Tyr1266Ter) c.3795T>A (p.Tyr1265Ter) c.3753T>A (p.Tyr1251Ter) c.3767-1405T>A (n.3767-1405T>A) c.3713-1405T>A (n.3713-1405T>A) c.3701-1405T>A (n.3701-1405T>A) c.2856T>A (p.Tyr952Ter) | |
| 2 | g.50054996T>A | CA47835844 | NRXN1 | c.3767A>T (p.Tyr1256Phe) n.934A>T c.606-1406A>T (n.606-1406A>T) c.614-1406A>T (n.614-1406A>T) c.662A>T (p.Tyr221Phe) c.3887A>T (p.Tyr1296Phe) c.3731A>T (p.Tyr1244Phe) c.3719-1406A>T (n.3719-1406A>T) c.-119-1406A>T (n.-119-1406A>T) c.3743A>T (p.Tyr1248Phe) n.576A>T c.3788A>T (p.Tyr1263Phe) c.3740-1406A>T (n.3740-1406A>T) c.3785A>T (p.Tyr1262Phe) c.3776A>T (p.Tyr1259Phe) c.3770A>T (p.Tyr1257Phe) c.3761A>T (p.Tyr1254Phe) c.3758A>T (p.Tyr1253Phe) c.3728A>T (p.Tyr1243Phe) c.3698A>T (p.Tyr1233Phe) c.3695-1406A>T (n.3695-1406A>T) c.2993A>T (p.Tyr998Phe) c.2948A>T (p.Tyr983Phe) c.2921A>T (p.Tyr974Phe) c.2828A>T (p.Tyr943Phe) c.3653-1406A>T (n.3653-1406A>T) c.3701A>T (p.Tyr1234Phe) c.3740A>T (p.Tyr1247Phe) c.3608-1406A>T (n.3608-1406A>T) c.3638-1406A>T (n.3638-1406A>T) c.3764A>T (p.Tyr1255Phe) c.3755A>T (p.Tyr1252Phe) c.3668-1406A>T (n.3668-1406A>T) c.3815A>T (p.Tyr1272Phe) c.3812A>T (p.Tyr1271Phe) c.3803A>T (p.Tyr1268Phe) c.3797A>T (p.Tyr1266Phe) c.3794A>T (p.Tyr1265Phe) c.3752A>T (p.Tyr1251Phe) c.3767-1406A>T (n.3767-1406A>T) c.3713-1406A>T (n.3713-1406A>T) c.3701-1406A>T (n.3701-1406A>T) c.2855A>T (p.Tyr952Phe) | dbSNP |
| 2 | g.50054996T>C | CA346820111 | NRXN1 | c.3767A>G (p.Tyr1256Cys) n.934A>G c.606-1406A>G (n.606-1406A>G) c.614-1406A>G (n.614-1406A>G) c.662A>G (p.Tyr221Cys) c.3887A>G (p.Tyr1296Cys) c.3731A>G (p.Tyr1244Cys) c.3719-1406A>G (n.3719-1406A>G) c.-119-1406A>G (n.-119-1406A>G) c.3743A>G (p.Tyr1248Cys) n.576A>G c.3788A>G (p.Tyr1263Cys) c.3740-1406A>G (n.3740-1406A>G) c.3785A>G (p.Tyr1262Cys) c.3776A>G (p.Tyr1259Cys) c.3770A>G (p.Tyr1257Cys) c.3761A>G (p.Tyr1254Cys) c.3758A>G (p.Tyr1253Cys) c.3728A>G (p.Tyr1243Cys) c.3698A>G (p.Tyr1233Cys) c.3695-1406A>G (n.3695-1406A>G) c.2993A>G (p.Tyr998Cys) c.2948A>G (p.Tyr983Cys) c.2921A>G (p.Tyr974Cys) c.2828A>G (p.Tyr943Cys) c.3653-1406A>G (n.3653-1406A>G) c.3701A>G (p.Tyr1234Cys) c.3740A>G (p.Tyr1247Cys) c.3608-1406A>G (n.3608-1406A>G) c.3638-1406A>G (n.3638-1406A>G) c.3764A>G (p.Tyr1255Cys) c.3755A>G (p.Tyr1252Cys) c.3668-1406A>G (n.3668-1406A>G) c.3815A>G (p.Tyr1272Cys) c.3812A>G (p.Tyr1271Cys) c.3803A>G (p.Tyr1268Cys) c.3797A>G (p.Tyr1266Cys) c.3794A>G (p.Tyr1265Cys) c.3752A>G (p.Tyr1251Cys) c.3767-1406A>G (n.3767-1406A>G) c.3713-1406A>G (n.3713-1406A>G) c.3701-1406A>G (n.3701-1406A>G) c.2855A>G (p.Tyr952Cys) | |
| 2 | g.50054996T>G | CA346820112 | NRXN1 | c.3767A>C (p.Tyr1256Ser) n.934A>C c.606-1406A>C (n.606-1406A>C) c.614-1406A>C (n.614-1406A>C) c.662A>C (p.Tyr221Ser) c.3887A>C (p.Tyr1296Ser) c.3731A>C (p.Tyr1244Ser) c.3719-1406A>C (n.3719-1406A>C) c.-119-1406A>C (n.-119-1406A>C) c.3743A>C (p.Tyr1248Ser) n.576A>C c.3788A>C (p.Tyr1263Ser) c.3740-1406A>C (n.3740-1406A>C) c.3785A>C (p.Tyr1262Ser) c.3776A>C (p.Tyr1259Ser) c.3770A>C (p.Tyr1257Ser) c.3761A>C (p.Tyr1254Ser) c.3758A>C (p.Tyr1253Ser) c.3728A>C (p.Tyr1243Ser) c.3698A>C (p.Tyr1233Ser) c.3695-1406A>C (n.3695-1406A>C) c.2993A>C (p.Tyr998Ser) c.2948A>C (p.Tyr983Ser) c.2921A>C (p.Tyr974Ser) c.2828A>C (p.Tyr943Ser) c.3653-1406A>C (n.3653-1406A>C) c.3701A>C (p.Tyr1234Ser) c.3740A>C (p.Tyr1247Ser) c.3608-1406A>C (n.3608-1406A>C) c.3638-1406A>C (n.3638-1406A>C) c.3764A>C (p.Tyr1255Ser) c.3755A>C (p.Tyr1252Ser) c.3668-1406A>C (n.3668-1406A>C) c.3815A>C (p.Tyr1272Ser) c.3812A>C (p.Tyr1271Ser) c.3803A>C (p.Tyr1268Ser) c.3797A>C (p.Tyr1266Ser) c.3794A>C (p.Tyr1265Ser) c.3752A>C (p.Tyr1251Ser) c.3767-1406A>C (n.3767-1406A>C) c.3713-1406A>C (n.3713-1406A>C) c.3701-1406A>C (n.3701-1406A>C) c.2855A>C (p.Tyr952Ser) | |
| 2 | g.50054996T= | CA1249354463 | NRXN1 | c.3767A= (p.Tyr1256=) n.934A= c.606-1406A= (n.606-1406A=) c.614-1406A= (n.614-1406A=) c.662A= (p.Tyr221=) c.3887A= (p.Tyr1296=) c.3731A= (p.Tyr1244=) c.3719-1406A= (n.3719-1406A=) c.-119-1406A= (n.-119-1406A=) c.3743A= (p.Tyr1248=) n.576A= c.3788A= (p.Tyr1263=) c.3740-1406A= (n.3740-1406A=) c.3785A= (p.Tyr1262=) c.3776A= (p.Tyr1259=) c.3770A= (p.Tyr1257=) c.3761A= (p.Tyr1254=) c.3758A= (p.Tyr1253=) c.3728A= (p.Tyr1243=) c.3698A= (p.Tyr1233=) c.3695-1406A= (n.3695-1406A=) c.2993A= (p.Tyr998=) c.2948A= (p.Tyr983=) c.2921A= (p.Tyr974=) c.2828A= (p.Tyr943=) c.3653-1406A= (n.3653-1406A=) c.3701A= (p.Tyr1234=) c.3740A= (p.Tyr1247=) c.3608-1406A= (n.3608-1406A=) c.3638-1406A= (n.3638-1406A=) c.3764A= (p.Tyr1255=) c.3755A= (p.Tyr1252=) c.3668-1406A= (n.3668-1406A=) c.3815A= (p.Tyr1272=) c.3812A= (p.Tyr1271=) c.3803A= (p.Tyr1268=) c.3797A= (p.Tyr1266=) c.3794A= (p.Tyr1265=) c.3752A= (p.Tyr1251=) c.3767-1406A= (n.3767-1406A=) c.3713-1406A= (n.3713-1406A=) c.3701-1406A= (n.3701-1406A=) c.2855A= (p.Tyr952=) | |
| 2 | g.50054997A>C | CA346820113 | NRXN1 | c.3766T>G (p.Tyr1256Asp) n.933T>G c.606-1407T>G (n.606-1407T>G) c.614-1407T>G (n.614-1407T>G) c.661T>G (p.Tyr221Asp) c.3886T>G (p.Tyr1296Asp) c.3730T>G (p.Tyr1244Asp) c.3719-1407T>G (n.3719-1407T>G) c.-119-1407T>G (n.-119-1407T>G) c.3742T>G (p.Tyr1248Asp) n.575T>G c.3787T>G (p.Tyr1263Asp) c.3740-1407T>G (n.3740-1407T>G) c.3784T>G (p.Tyr1262Asp) c.3775T>G (p.Tyr1259Asp) c.3769T>G (p.Tyr1257Asp) c.3760T>G (p.Tyr1254Asp) c.3757T>G (p.Tyr1253Asp) c.3727T>G (p.Tyr1243Asp) c.3697T>G (p.Tyr1233Asp) c.3695-1407T>G (n.3695-1407T>G) c.2992T>G (p.Tyr998Asp) c.2947T>G (p.Tyr983Asp) c.2920T>G (p.Tyr974Asp) c.2827T>G (p.Tyr943Asp) c.3653-1407T>G (n.3653-1407T>G) c.3700T>G (p.Tyr1234Asp) c.3739T>G (p.Tyr1247Asp) c.3608-1407T>G (n.3608-1407T>G) c.3638-1407T>G (n.3638-1407T>G) c.3763T>G (p.Tyr1255Asp) c.3754T>G (p.Tyr1252Asp) c.3668-1407T>G (n.3668-1407T>G) c.3814T>G (p.Tyr1272Asp) c.3811T>G (p.Tyr1271Asp) c.3802T>G (p.Tyr1268Asp) c.3796T>G (p.Tyr1266Asp) c.3793T>G (p.Tyr1265Asp) c.3751T>G (p.Tyr1251Asp) c.3767-1407T>G (n.3767-1407T>G) c.3713-1407T>G (n.3713-1407T>G) c.3701-1407T>G (n.3701-1407T>G) c.2854T>G (p.Tyr952Asp) | |
| 2 | g.50054997A>G | CA346820114 | NRXN1 | c.3766T>C (p.Tyr1256His) n.933T>C c.606-1407T>C (n.606-1407T>C) c.614-1407T>C (n.614-1407T>C) c.661T>C (p.Tyr221His) c.3886T>C (p.Tyr1296His) c.3730T>C (p.Tyr1244His) c.3719-1407T>C (n.3719-1407T>C) c.-119-1407T>C (n.-119-1407T>C) c.3742T>C (p.Tyr1248His) n.575T>C c.3787T>C (p.Tyr1263His) c.3740-1407T>C (n.3740-1407T>C) c.3784T>C (p.Tyr1262His) c.3775T>C (p.Tyr1259His) c.3769T>C (p.Tyr1257His) c.3760T>C (p.Tyr1254His) c.3757T>C (p.Tyr1253His) c.3727T>C (p.Tyr1243His) c.3697T>C (p.Tyr1233His) c.3695-1407T>C (n.3695-1407T>C) c.2992T>C (p.Tyr998His) c.2947T>C (p.Tyr983His) c.2920T>C (p.Tyr974His) c.2827T>C (p.Tyr943His) c.3653-1407T>C (n.3653-1407T>C) c.3700T>C (p.Tyr1234His) c.3739T>C (p.Tyr1247His) c.3608-1407T>C (n.3608-1407T>C) c.3638-1407T>C (n.3638-1407T>C) c.3763T>C (p.Tyr1255His) c.3754T>C (p.Tyr1252His) c.3668-1407T>C (n.3668-1407T>C) c.3814T>C (p.Tyr1272His) c.3811T>C (p.Tyr1271His) c.3802T>C (p.Tyr1268His) c.3796T>C (p.Tyr1266His) c.3793T>C (p.Tyr1265His) c.3751T>C (p.Tyr1251His) c.3767-1407T>C (n.3767-1407T>C) c.3713-1407T>C (n.3713-1407T>C) c.3701-1407T>C (n.3701-1407T>C) c.2854T>C (p.Tyr952His) | gnomAD v4 |
| 2 | g.50054997A>T | CA346820115 | NRXN1 | c.3766T>A (p.Tyr1256Asn) n.933T>A c.606-1407T>A (n.606-1407T>A) c.614-1407T>A (n.614-1407T>A) c.661T>A (p.Tyr221Asn) c.3886T>A (p.Tyr1296Asn) c.3730T>A (p.Tyr1244Asn) c.3719-1407T>A (n.3719-1407T>A) c.-119-1407T>A (n.-119-1407T>A) c.3742T>A (p.Tyr1248Asn) n.575T>A c.3787T>A (p.Tyr1263Asn) c.3740-1407T>A (n.3740-1407T>A) c.3784T>A (p.Tyr1262Asn) c.3775T>A (p.Tyr1259Asn) c.3769T>A (p.Tyr1257Asn) c.3760T>A (p.Tyr1254Asn) c.3757T>A (p.Tyr1253Asn) c.3727T>A (p.Tyr1243Asn) c.3697T>A (p.Tyr1233Asn) c.3695-1407T>A (n.3695-1407T>A) c.2992T>A (p.Tyr998Asn) c.2947T>A (p.Tyr983Asn) c.2920T>A (p.Tyr974Asn) c.2827T>A (p.Tyr943Asn) c.3653-1407T>A (n.3653-1407T>A) c.3700T>A (p.Tyr1234Asn) c.3739T>A (p.Tyr1247Asn) c.3608-1407T>A (n.3608-1407T>A) c.3638-1407T>A (n.3638-1407T>A) c.3763T>A (p.Tyr1255Asn) c.3754T>A (p.Tyr1252Asn) c.3668-1407T>A (n.3668-1407T>A) c.3814T>A (p.Tyr1272Asn) c.3811T>A (p.Tyr1271Asn) c.3802T>A (p.Tyr1268Asn) c.3796T>A (p.Tyr1266Asn) c.3793T>A (p.Tyr1265Asn) c.3751T>A (p.Tyr1251Asn) c.3767-1407T>A (n.3767-1407T>A) c.3713-1407T>A (n.3713-1407T>A) c.3701-1407T>A (n.3701-1407T>A) c.2854T>A (p.Tyr952Asn) | |
| 2 | g.50054998T>A | CA426101668 | NRXN1 | c.3765A>T (p.Pro1255=) n.932A>T c.606-1408A>T (n.606-1408A>T) c.614-1408A>T (n.614-1408A>T) c.660A>T (p.Pro220=) c.3885A>T (p.Pro1295=) c.3729A>T (p.Pro1243=) c.3719-1408A>T (n.3719-1408A>T) c.-119-1408A>T (n.-119-1408A>T) c.3741A>T (p.Pro1247=) n.574A>T c.3786A>T (p.Pro1262=) c.3740-1408A>T (n.3740-1408A>T) c.3783A>T (p.Pro1261=) c.3774A>T (p.Pro1258=) c.3768A>T (p.Pro1256=) c.3759A>T (p.Pro1253=) c.3756A>T (p.Pro1252=) c.3726A>T (p.Pro1242=) c.3696A>T (p.Pro1232=) c.3695-1408A>T (n.3695-1408A>T) c.2991A>T (p.Pro997=) c.2946A>T (p.Pro982=) c.2919A>T (p.Pro973=) c.2826A>T (p.Pro942=) c.3653-1408A>T (n.3653-1408A>T) c.3699A>T (p.Pro1233=) c.3738A>T (p.Pro1246=) c.3608-1408A>T (n.3608-1408A>T) c.3638-1408A>T (n.3638-1408A>T) c.3762A>T (p.Pro1254=) c.3753A>T (p.Pro1251=) c.3668-1408A>T (n.3668-1408A>T) c.3813A>T (p.Pro1271=) c.3810A>T (p.Pro1270=) c.3801A>T (p.Pro1267=) c.3795A>T (p.Pro1265=) c.3792A>T (p.Pro1264=) c.3750A>T (p.Pro1250=) c.3767-1408A>T (n.3767-1408A>T) c.3713-1408A>T (n.3713-1408A>T) c.3701-1408A>T (n.3701-1408A>T) c.2853A>T (p.Pro951=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.50054998T>C | CA426101670 | NRXN1 | c.3765A>G (p.Pro1255=) n.932A>G c.606-1408A>G (n.606-1408A>G) c.614-1408A>G (n.614-1408A>G) c.660A>G (p.Pro220=) c.3885A>G (p.Pro1295=) c.3729A>G (p.Pro1243=) c.3719-1408A>G (n.3719-1408A>G) c.-119-1408A>G (n.-119-1408A>G) c.3741A>G (p.Pro1247=) n.574A>G c.3786A>G (p.Pro1262=) c.3740-1408A>G (n.3740-1408A>G) c.3783A>G (p.Pro1261=) c.3774A>G (p.Pro1258=) c.3768A>G (p.Pro1256=) c.3759A>G (p.Pro1253=) c.3756A>G (p.Pro1252=) c.3726A>G (p.Pro1242=) c.3696A>G (p.Pro1232=) c.3695-1408A>G (n.3695-1408A>G) c.2991A>G (p.Pro997=) c.2946A>G (p.Pro982=) c.2919A>G (p.Pro973=) c.2826A>G (p.Pro942=) c.3653-1408A>G (n.3653-1408A>G) c.3699A>G (p.Pro1233=) c.3738A>G (p.Pro1246=) c.3608-1408A>G (n.3608-1408A>G) c.3638-1408A>G (n.3638-1408A>G) c.3762A>G (p.Pro1254=) c.3753A>G (p.Pro1251=) c.3668-1408A>G (n.3668-1408A>G) c.3813A>G (p.Pro1271=) c.3810A>G (p.Pro1270=) c.3801A>G (p.Pro1267=) c.3795A>G (p.Pro1265=) c.3792A>G (p.Pro1264=) c.3750A>G (p.Pro1250=) c.3767-1408A>G (n.3767-1408A>G) c.3713-1408A>G (n.3713-1408A>G) c.3701-1408A>G (n.3701-1408A>G) c.2853A>G (p.Pro951=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.50054998T>G | CA426101671 | NRXN1 | c.3765A>C (p.Pro1255=) n.932A>C c.606-1408A>C (n.606-1408A>C) c.614-1408A>C (n.614-1408A>C) c.660A>C (p.Pro220=) c.3885A>C (p.Pro1295=) c.3729A>C (p.Pro1243=) c.3719-1408A>C (n.3719-1408A>C) c.-119-1408A>C (n.-119-1408A>C) c.3741A>C (p.Pro1247=) n.574A>C c.3786A>C (p.Pro1262=) c.3740-1408A>C (n.3740-1408A>C) c.3783A>C (p.Pro1261=) c.3774A>C (p.Pro1258=) c.3768A>C (p.Pro1256=) c.3759A>C (p.Pro1253=) c.3756A>C (p.Pro1252=) c.3726A>C (p.Pro1242=) c.3696A>C (p.Pro1232=) c.3695-1408A>C (n.3695-1408A>C) c.2991A>C (p.Pro997=) c.2946A>C (p.Pro982=) c.2919A>C (p.Pro973=) c.2826A>C (p.Pro942=) c.3653-1408A>C (n.3653-1408A>C) c.3699A>C (p.Pro1233=) c.3738A>C (p.Pro1246=) c.3608-1408A>C (n.3608-1408A>C) c.3638-1408A>C (n.3638-1408A>C) c.3762A>C (p.Pro1254=) c.3753A>C (p.Pro1251=) c.3668-1408A>C (n.3668-1408A>C) c.3813A>C (p.Pro1271=) c.3810A>C (p.Pro1270=) c.3801A>C (p.Pro1267=) c.3795A>C (p.Pro1265=) c.3792A>C (p.Pro1264=) c.3750A>C (p.Pro1250=) c.3767-1408A>C (n.3767-1408A>C) c.3713-1408A>C (n.3713-1408A>C) c.3701-1408A>C (n.3701-1408A>C) c.2853A>C (p.Pro951=) | gnomAD v4 |
| 2 | g.50054998T= | CA1249354464 | NRXN1 | c.3765A= (p.Pro1255=) n.932A= c.606-1408A= (n.606-1408A=) c.614-1408A= (n.614-1408A=) c.660A= (p.Pro220=) c.3885A= (p.Pro1295=) c.3729A= (p.Pro1243=) c.3719-1408A= (n.3719-1408A=) c.-119-1408A= (n.-119-1408A=) c.3741A= (p.Pro1247=) n.574A= c.3786A= (p.Pro1262=) c.3740-1408A= (n.3740-1408A=) c.3783A= (p.Pro1261=) c.3774A= (p.Pro1258=) c.3768A= (p.Pro1256=) c.3759A= (p.Pro1253=) c.3756A= (p.Pro1252=) c.3726A= (p.Pro1242=) c.3696A= (p.Pro1232=) c.3695-1408A= (n.3695-1408A=) c.2991A= (p.Pro997=) c.2946A= (p.Pro982=) c.2919A= (p.Pro973=) c.2826A= (p.Pro942=) c.3653-1408A= (n.3653-1408A=) c.3699A= (p.Pro1233=) c.3738A= (p.Pro1246=) c.3608-1408A= (n.3608-1408A=) c.3638-1408A= (n.3638-1408A=) c.3762A= (p.Pro1254=) c.3753A= (p.Pro1251=) c.3668-1408A= (n.3668-1408A=) c.3813A= (p.Pro1271=) c.3810A= (p.Pro1270=) c.3801A= (p.Pro1267=) c.3795A= (p.Pro1265=) c.3792A= (p.Pro1264=) c.3750A= (p.Pro1250=) c.3767-1408A= (n.3767-1408A=) c.3713-1408A= (n.3713-1408A=) c.3701-1408A= (n.3701-1408A=) c.2853A= (p.Pro951=) | |
| 2 | g.50054999G>A | CA346820116 | NRXN1 | c.3764C>T (p.Pro1255Leu) n.931C>T c.606-1409C>T (n.606-1409C>T) c.614-1409C>T (n.614-1409C>T) c.659C>T (p.Pro220Leu) c.3884C>T (p.Pro1295Leu) c.3728C>T (p.Pro1243Leu) c.3719-1409C>T (n.3719-1409C>T) c.-119-1409C>T (n.-119-1409C>T) c.3740C>T (p.Pro1247Leu) n.573C>T c.3785C>T (p.Pro1262Leu) c.3740-1409C>T (n.3740-1409C>T) c.3782C>T (p.Pro1261Leu) c.3773C>T (p.Pro1258Leu) c.3767C>T (p.Pro1256Leu) c.3758C>T (p.Pro1253Leu) c.3755C>T (p.Pro1252Leu) c.3725C>T (p.Pro1242Leu) c.3695C>T (p.Pro1232Leu) c.3695-1409C>T (n.3695-1409C>T) c.2990C>T (p.Pro997Leu) c.2945C>T (p.Pro982Leu) c.2918C>T (p.Pro973Leu) c.2825C>T (p.Pro942Leu) c.3653-1409C>T (n.3653-1409C>T) c.3698C>T (p.Pro1233Leu) c.3737C>T (p.Pro1246Leu) c.3608-1409C>T (n.3608-1409C>T) c.3638-1409C>T (n.3638-1409C>T) c.3761C>T (p.Pro1254Leu) c.3752C>T (p.Pro1251Leu) c.3668-1409C>T (n.3668-1409C>T) c.3812C>T (p.Pro1271Leu) c.3809C>T (p.Pro1270Leu) c.3800C>T (p.Pro1267Leu) c.3794C>T (p.Pro1265Leu) c.3791C>T (p.Pro1264Leu) c.3749C>T (p.Pro1250Leu) c.3767-1409C>T (n.3767-1409C>T) c.3713-1409C>T (n.3713-1409C>T) c.3701-1409C>T (n.3701-1409C>T) c.2852C>T (p.Pro951Leu) | |
| 2 | g.50054999G>C | CA346820117 | NRXN1 | c.3764C>G (p.Pro1255Arg) n.931C>G c.606-1409C>G (n.606-1409C>G) c.614-1409C>G (n.614-1409C>G) c.659C>G (p.Pro220Arg) c.3884C>G (p.Pro1295Arg) c.3728C>G (p.Pro1243Arg) c.3719-1409C>G (n.3719-1409C>G) c.-119-1409C>G (n.-119-1409C>G) c.3740C>G (p.Pro1247Arg) n.573C>G c.3785C>G (p.Pro1262Arg) c.3740-1409C>G (n.3740-1409C>G) c.3782C>G (p.Pro1261Arg) c.3773C>G (p.Pro1258Arg) c.3767C>G (p.Pro1256Arg) c.3758C>G (p.Pro1253Arg) c.3755C>G (p.Pro1252Arg) c.3725C>G (p.Pro1242Arg) c.3695C>G (p.Pro1232Arg) c.3695-1409C>G (n.3695-1409C>G) c.2990C>G (p.Pro997Arg) c.2945C>G (p.Pro982Arg) c.2918C>G (p.Pro973Arg) c.2825C>G (p.Pro942Arg) c.3653-1409C>G (n.3653-1409C>G) c.3698C>G (p.Pro1233Arg) c.3737C>G (p.Pro1246Arg) c.3608-1409C>G (n.3608-1409C>G) c.3638-1409C>G (n.3638-1409C>G) c.3761C>G (p.Pro1254Arg) c.3752C>G (p.Pro1251Arg) c.3668-1409C>G (n.3668-1409C>G) c.3812C>G (p.Pro1271Arg) c.3809C>G (p.Pro1270Arg) c.3800C>G (p.Pro1267Arg) c.3794C>G (p.Pro1265Arg) c.3791C>G (p.Pro1264Arg) c.3749C>G (p.Pro1250Arg) c.3767-1409C>G (n.3767-1409C>G) c.3713-1409C>G (n.3713-1409C>G) c.3701-1409C>G (n.3701-1409C>G) c.2852C>G (p.Pro951Arg) | |
| 2 | g.50054999G>T | CA346820118 | NRXN1 | c.3764C>A (p.Pro1255Gln) n.931C>A c.606-1409C>A (n.606-1409C>A) c.614-1409C>A (n.614-1409C>A) c.659C>A (p.Pro220Gln) c.3884C>A (p.Pro1295Gln) c.3728C>A (p.Pro1243Gln) c.3719-1409C>A (n.3719-1409C>A) c.-119-1409C>A (n.-119-1409C>A) c.3740C>A (p.Pro1247Gln) n.573C>A c.3785C>A (p.Pro1262Gln) c.3740-1409C>A (n.3740-1409C>A) c.3782C>A (p.Pro1261Gln) c.3773C>A (p.Pro1258Gln) c.3767C>A (p.Pro1256Gln) c.3758C>A (p.Pro1253Gln) c.3755C>A (p.Pro1252Gln) c.3725C>A (p.Pro1242Gln) c.3695C>A (p.Pro1232Gln) c.3695-1409C>A (n.3695-1409C>A) c.2990C>A (p.Pro997Gln) c.2945C>A (p.Pro982Gln) c.2918C>A (p.Pro973Gln) c.2825C>A (p.Pro942Gln) c.3653-1409C>A (n.3653-1409C>A) c.3698C>A (p.Pro1233Gln) c.3737C>A (p.Pro1246Gln) c.3608-1409C>A (n.3608-1409C>A) c.3638-1409C>A (n.3638-1409C>A) c.3761C>A (p.Pro1254Gln) c.3752C>A (p.Pro1251Gln) c.3668-1409C>A (n.3668-1409C>A) c.3812C>A (p.Pro1271Gln) c.3809C>A (p.Pro1270Gln) c.3800C>A (p.Pro1267Gln) c.3794C>A (p.Pro1265Gln) c.3791C>A (p.Pro1264Gln) c.3749C>A (p.Pro1250Gln) c.3767-1409C>A (n.3767-1409C>A) c.3713-1409C>A (n.3713-1409C>A) c.3701-1409C>A (n.3701-1409C>A) c.2852C>A (p.Pro951Gln) | gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.50055000G>A | CA346820119 | NRXN1 | c.3763C>T (p.Pro1255Ser) n.930C>T c.606-1410C>T (n.606-1410C>T) c.614-1410C>T (n.614-1410C>T) c.658C>T (p.Pro220Ser) c.3883C>T (p.Pro1295Ser) c.3727C>T (p.Pro1243Ser) c.3719-1410C>T (n.3719-1410C>T) c.-119-1410C>T (n.-119-1410C>T) c.3739C>T (p.Pro1247Ser) n.572C>T c.3784C>T (p.Pro1262Ser) c.3740-1410C>T (n.3740-1410C>T) c.3781C>T (p.Pro1261Ser) c.3772C>T (p.Pro1258Ser) c.3766C>T (p.Pro1256Ser) c.3757C>T (p.Pro1253Ser) c.3754C>T (p.Pro1252Ser) c.3724C>T (p.Pro1242Ser) c.3694C>T (p.Pro1232Ser) c.3695-1410C>T (n.3695-1410C>T) c.2989C>T (p.Pro997Ser) c.2944C>T (p.Pro982Ser) c.2917C>T (p.Pro973Ser) c.2824C>T (p.Pro942Ser) c.3653-1410C>T (n.3653-1410C>T) c.3697C>T (p.Pro1233Ser) c.3736C>T (p.Pro1246Ser) c.3608-1410C>T (n.3608-1410C>T) c.3638-1410C>T (n.3638-1410C>T) c.3760C>T (p.Pro1254Ser) c.3751C>T (p.Pro1251Ser) c.3668-1410C>T (n.3668-1410C>T) c.3811C>T (p.Pro1271Ser) c.3808C>T (p.Pro1270Ser) c.3799C>T (p.Pro1267Ser) c.3793C>T (p.Pro1265Ser) c.3790C>T (p.Pro1264Ser) c.3748C>T (p.Pro1250Ser) c.3767-1410C>T (n.3767-1410C>T) c.3713-1410C>T (n.3713-1410C>T) c.3701-1410C>T (n.3701-1410C>T) c.2851C>T (p.Pro951Ser) | |
| 2 | g.50055000G>C | CA346820120 | NRXN1 | c.3763C>G (p.Pro1255Ala) n.930C>G c.606-1410C>G (n.606-1410C>G) c.614-1410C>G (n.614-1410C>G) c.658C>G (p.Pro220Ala) c.3883C>G (p.Pro1295Ala) c.3727C>G (p.Pro1243Ala) c.3719-1410C>G (n.3719-1410C>G) c.-119-1410C>G (n.-119-1410C>G) c.3739C>G (p.Pro1247Ala) n.572C>G c.3784C>G (p.Pro1262Ala) c.3740-1410C>G (n.3740-1410C>G) c.3781C>G (p.Pro1261Ala) c.3772C>G (p.Pro1258Ala) c.3766C>G (p.Pro1256Ala) c.3757C>G (p.Pro1253Ala) c.3754C>G (p.Pro1252Ala) c.3724C>G (p.Pro1242Ala) c.3694C>G (p.Pro1232Ala) c.3695-1410C>G (n.3695-1410C>G) c.2989C>G (p.Pro997Ala) c.2944C>G (p.Pro982Ala) c.2917C>G (p.Pro973Ala) c.2824C>G (p.Pro942Ala) c.3653-1410C>G (n.3653-1410C>G) c.3697C>G (p.Pro1233Ala) c.3736C>G (p.Pro1246Ala) c.3608-1410C>G (n.3608-1410C>G) c.3638-1410C>G (n.3638-1410C>G) c.3760C>G (p.Pro1254Ala) c.3751C>G (p.Pro1251Ala) c.3668-1410C>G (n.3668-1410C>G) c.3811C>G (p.Pro1271Ala) c.3808C>G (p.Pro1270Ala) c.3799C>G (p.Pro1267Ala) c.3793C>G (p.Pro1265Ala) c.3790C>G (p.Pro1264Ala) c.3748C>G (p.Pro1250Ala) c.3767-1410C>G (n.3767-1410C>G) c.3713-1410C>G (n.3713-1410C>G) c.3701-1410C>G (n.3701-1410C>G) c.2851C>G (p.Pro951Ala) | |
| 2 | g.50055000G>T | CA346820121 | NRXN1 | c.3763C>A (p.Pro1255Thr) n.930C>A c.606-1410C>A (n.606-1410C>A) c.614-1410C>A (n.614-1410C>A) c.658C>A (p.Pro220Thr) c.3883C>A (p.Pro1295Thr) c.3727C>A (p.Pro1243Thr) c.3719-1410C>A (n.3719-1410C>A) c.-119-1410C>A (n.-119-1410C>A) c.3739C>A (p.Pro1247Thr) n.572C>A c.3784C>A (p.Pro1262Thr) c.3740-1410C>A (n.3740-1410C>A) c.3781C>A (p.Pro1261Thr) c.3772C>A (p.Pro1258Thr) c.3766C>A (p.Pro1256Thr) c.3757C>A (p.Pro1253Thr) c.3754C>A (p.Pro1252Thr) c.3724C>A (p.Pro1242Thr) c.3694C>A (p.Pro1232Thr) c.3695-1410C>A (n.3695-1410C>A) c.2989C>A (p.Pro997Thr) c.2944C>A (p.Pro982Thr) c.2917C>A (p.Pro973Thr) c.2824C>A (p.Pro942Thr) c.3653-1410C>A (n.3653-1410C>A) c.3697C>A (p.Pro1233Thr) c.3736C>A (p.Pro1246Thr) c.3608-1410C>A (n.3608-1410C>A) c.3638-1410C>A (n.3638-1410C>A) c.3760C>A (p.Pro1254Thr) c.3751C>A (p.Pro1251Thr) c.3668-1410C>A (n.3668-1410C>A) c.3811C>A (p.Pro1271Thr) c.3808C>A (p.Pro1270Thr) c.3799C>A (p.Pro1267Thr) c.3793C>A (p.Pro1265Thr) c.3790C>A (p.Pro1264Thr) c.3748C>A (p.Pro1250Thr) c.3767-1410C>A (n.3767-1410C>A) c.3713-1410C>A (n.3713-1410C>A) c.3701-1410C>A (n.3701-1410C>A) c.2851C>A (p.Pro951Thr) | |
| 2 | g.50055001A= | CA1249354465 | NRXN1 | c.3762T= (p.Ile1254=) n.929T= c.606-1411T= (n.606-1411T=) c.614-1411T= (n.614-1411T=) c.657T= (p.Ile219=) c.3882T= (p.Ile1294=) c.3726T= (p.Ile1242=) c.3719-1411T= (n.3719-1411T=) c.-119-1411T= (n.-119-1411T=) c.3738T= (p.Ile1246=) n.571T= c.3783T= (p.Ile1261=) c.3740-1411T= (n.3740-1411T=) c.3780T= (p.Ile1260=) c.3771T= (p.Ile1257=) c.3765T= (p.Ile1255=) c.3756T= (p.Ile1252=) c.3753T= (p.Ile1251=) c.3723T= (p.Ile1241=) c.3693T= (p.Ile1231=) c.3695-1411T= (n.3695-1411T=) c.2988T= (p.Ile996=) c.2943T= (p.Ile981=) c.2916T= (p.Ile972=) c.2823T= (p.Ile941=) c.3653-1411T= (n.3653-1411T=) c.3696T= (p.Ile1232=) c.3735T= (p.Ile1245=) c.3608-1411T= (n.3608-1411T=) c.3638-1411T= (n.3638-1411T=) c.3759T= (p.Ile1253=) c.3750T= (p.Ile1250=) c.3668-1411T= (n.3668-1411T=) c.3810T= (p.Ile1270=) c.3807T= (p.Ile1269=) c.3798T= (p.Ile1266=) c.3792T= (p.Ile1264=) c.3789T= (p.Ile1263=) c.3747T= (p.Ile1249=) c.3767-1411T= (n.3767-1411T=) c.3713-1411T= (n.3713-1411T=) c.3701-1411T= (n.3701-1411T=) c.2850T= (p.Ile950=) | |
| 2 | g.50055001A>C | CA346820122 | NRXN1 | c.3762T>G (p.Ile1254Met) n.929T>G c.606-1411T>G (n.606-1411T>G) c.614-1411T>G (n.614-1411T>G) c.657T>G (p.Ile219Met) c.3882T>G (p.Ile1294Met) c.3726T>G (p.Ile1242Met) c.3719-1411T>G (n.3719-1411T>G) c.-119-1411T>G (n.-119-1411T>G) c.3738T>G (p.Ile1246Met) n.571T>G c.3783T>G (p.Ile1261Met) c.3740-1411T>G (n.3740-1411T>G) c.3780T>G (p.Ile1260Met) c.3771T>G (p.Ile1257Met) c.3765T>G (p.Ile1255Met) c.3756T>G (p.Ile1252Met) c.3753T>G (p.Ile1251Met) c.3723T>G (p.Ile1241Met) c.3693T>G (p.Ile1231Met) c.3695-1411T>G (n.3695-1411T>G) c.2988T>G (p.Ile996Met) c.2943T>G (p.Ile981Met) c.2916T>G (p.Ile972Met) c.2823T>G (p.Ile941Met) c.3653-1411T>G (n.3653-1411T>G) c.3696T>G (p.Ile1232Met) c.3735T>G (p.Ile1245Met) c.3608-1411T>G (n.3608-1411T>G) c.3638-1411T>G (n.3638-1411T>G) c.3759T>G (p.Ile1253Met) c.3750T>G (p.Ile1250Met) c.3668-1411T>G (n.3668-1411T>G) c.3810T>G (p.Ile1270Met) c.3807T>G (p.Ile1269Met) c.3798T>G (p.Ile1266Met) c.3792T>G (p.Ile1264Met) c.3789T>G (p.Ile1263Met) c.3747T>G (p.Ile1249Met) c.3767-1411T>G (n.3767-1411T>G) c.3713-1411T>G (n.3713-1411T>G) c.3701-1411T>G (n.3701-1411T>G) c.2850T>G (p.Ile950Met) | |
| 2 | g.50055001A>G | CA426101673 | NRXN1 | c.3762T>C (p.Ile1254=) n.929T>C c.606-1411T>C (n.606-1411T>C) c.614-1411T>C (n.614-1411T>C) c.657T>C (p.Ile219=) c.3882T>C (p.Ile1294=) c.3726T>C (p.Ile1242=) c.3719-1411T>C (n.3719-1411T>C) c.-119-1411T>C (n.-119-1411T>C) c.3738T>C (p.Ile1246=) n.571T>C c.3783T>C (p.Ile1261=) c.3740-1411T>C (n.3740-1411T>C) c.3780T>C (p.Ile1260=) c.3771T>C (p.Ile1257=) c.3765T>C (p.Ile1255=) c.3756T>C (p.Ile1252=) c.3753T>C (p.Ile1251=) c.3723T>C (p.Ile1241=) c.3693T>C (p.Ile1231=) c.3695-1411T>C (n.3695-1411T>C) c.2988T>C (p.Ile996=) c.2943T>C (p.Ile981=) c.2916T>C (p.Ile972=) c.2823T>C (p.Ile941=) c.3653-1411T>C (n.3653-1411T>C) c.3696T>C (p.Ile1232=) c.3735T>C (p.Ile1245=) c.3608-1411T>C (n.3608-1411T>C) c.3638-1411T>C (n.3638-1411T>C) c.3759T>C (p.Ile1253=) c.3750T>C (p.Ile1250=) c.3668-1411T>C (n.3668-1411T>C) c.3810T>C (p.Ile1270=) c.3807T>C (p.Ile1269=) c.3798T>C (p.Ile1266=) c.3792T>C (p.Ile1264=) c.3789T>C (p.Ile1263=) c.3747T>C (p.Ile1249=) c.3767-1411T>C (n.3767-1411T>C) c.3713-1411T>C (n.3713-1411T>C) c.3701-1411T>C (n.3701-1411T>C) c.2850T>C (p.Ile950=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.50055001A>T | CA1654366 | NRXN1 | c.3762T>A (p.Ile1254=) n.929T>A c.606-1411T>A (n.606-1411T>A) c.614-1411T>A (n.614-1411T>A) c.657T>A (p.Ile219=) c.3882T>A (p.Ile1294=) c.3726T>A (p.Ile1242=) c.3719-1411T>A (n.3719-1411T>A) c.-119-1411T>A (n.-119-1411T>A) c.3738T>A (p.Ile1246=) n.571T>A c.3783T>A (p.Ile1261=) c.3740-1411T>A (n.3740-1411T>A) c.3780T>A (p.Ile1260=) c.3771T>A (p.Ile1257=) c.3765T>A (p.Ile1255=) c.3756T>A (p.Ile1252=) c.3753T>A (p.Ile1251=) c.3723T>A (p.Ile1241=) c.3693T>A (p.Ile1231=) c.3695-1411T>A (n.3695-1411T>A) c.2988T>A (p.Ile996=) c.2943T>A (p.Ile981=) c.2916T>A (p.Ile972=) c.2823T>A (p.Ile941=) c.3653-1411T>A (n.3653-1411T>A) c.3696T>A (p.Ile1232=) c.3735T>A (p.Ile1245=) c.3608-1411T>A (n.3608-1411T>A) c.3638-1411T>A (n.3638-1411T>A) c.3759T>A (p.Ile1253=) c.3750T>A (p.Ile1250=) c.3668-1411T>A (n.3668-1411T>A) c.3810T>A (p.Ile1270=) c.3807T>A (p.Ile1269=) c.3798T>A (p.Ile1266=) c.3792T>A (p.Ile1264=) c.3789T>A (p.Ile1263=) c.3747T>A (p.Ile1249=) c.3767-1411T>A (n.3767-1411T>A) c.3713-1411T>A (n.3713-1411T>A) c.3701-1411T>A (n.3701-1411T>A) c.2850T>A (p.Ile950=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.50055002A>C | CA346820123 | NRXN1 | c.3761T>G (p.Ile1254Ser) n.928T>G c.606-1412T>G (n.606-1412T>G) c.614-1412T>G (n.614-1412T>G) c.656T>G (p.Ile219Ser) c.3881T>G (p.Ile1294Ser) c.3725T>G (p.Ile1242Ser) c.3719-1412T>G (n.3719-1412T>G) c.-119-1412T>G (n.-119-1412T>G) c.3737T>G (p.Ile1246Ser) n.570T>G c.3782T>G (p.Ile1261Ser) c.3740-1412T>G (n.3740-1412T>G) c.3779T>G (p.Ile1260Ser) c.3770T>G (p.Ile1257Ser) c.3764T>G (p.Ile1255Ser) c.3755T>G (p.Ile1252Ser) c.3752T>G (p.Ile1251Ser) c.3722T>G (p.Ile1241Ser) c.3692T>G (p.Ile1231Ser) c.3695-1412T>G (n.3695-1412T>G) c.2987T>G (p.Ile996Ser) c.2942T>G (p.Ile981Ser) c.2915T>G (p.Ile972Ser) c.2822T>G (p.Ile941Ser) c.3653-1412T>G (n.3653-1412T>G) c.3695T>G (p.Ile1232Ser) c.3734T>G (p.Ile1245Ser) c.3608-1412T>G (n.3608-1412T>G) c.3638-1412T>G (n.3638-1412T>G) c.3758T>G (p.Ile1253Ser) c.3749T>G (p.Ile1250Ser) c.3668-1412T>G (n.3668-1412T>G) c.3809T>G (p.Ile1270Ser) c.3806T>G (p.Ile1269Ser) c.3797T>G (p.Ile1266Ser) c.3791T>G (p.Ile1264Ser) c.3788T>G (p.Ile1263Ser) c.3746T>G (p.Ile1249Ser) c.3767-1412T>G (n.3767-1412T>G) c.3713-1412T>G (n.3713-1412T>G) c.3701-1412T>G (n.3701-1412T>G) c.2849T>G (p.Ile950Ser) | |
| 2 | g.50055002A>G | CA346820124 | NRXN1 | c.3761T>C (p.Ile1254Thr) n.928T>C c.606-1412T>C (n.606-1412T>C) c.614-1412T>C (n.614-1412T>C) c.656T>C (p.Ile219Thr) c.3881T>C (p.Ile1294Thr) c.3725T>C (p.Ile1242Thr) c.3719-1412T>C (n.3719-1412T>C) c.-119-1412T>C (n.-119-1412T>C) c.3737T>C (p.Ile1246Thr) n.570T>C c.3782T>C (p.Ile1261Thr) c.3740-1412T>C (n.3740-1412T>C) c.3779T>C (p.Ile1260Thr) c.3770T>C (p.Ile1257Thr) c.3764T>C (p.Ile1255Thr) c.3755T>C (p.Ile1252Thr) c.3752T>C (p.Ile1251Thr) c.3722T>C (p.Ile1241Thr) c.3692T>C (p.Ile1231Thr) c.3695-1412T>C (n.3695-1412T>C) c.2987T>C (p.Ile996Thr) c.2942T>C (p.Ile981Thr) c.2915T>C (p.Ile972Thr) c.2822T>C (p.Ile941Thr) c.3653-1412T>C (n.3653-1412T>C) c.3695T>C (p.Ile1232Thr) c.3734T>C (p.Ile1245Thr) c.3608-1412T>C (n.3608-1412T>C) c.3638-1412T>C (n.3638-1412T>C) c.3758T>C (p.Ile1253Thr) c.3749T>C (p.Ile1250Thr) c.3668-1412T>C (n.3668-1412T>C) c.3809T>C (p.Ile1270Thr) c.3806T>C (p.Ile1269Thr) c.3797T>C (p.Ile1266Thr) c.3791T>C (p.Ile1264Thr) c.3788T>C (p.Ile1263Thr) c.3746T>C (p.Ile1249Thr) c.3767-1412T>C (n.3767-1412T>C) c.3713-1412T>C (n.3713-1412T>C) c.3701-1412T>C (n.3701-1412T>C) c.2849T>C (p.Ile950Thr) | |
| 2 | g.50055002A>T | CA346820125 | NRXN1 | c.3761T>A (p.Ile1254Asn) n.928T>A c.606-1412T>A (n.606-1412T>A) c.614-1412T>A (n.614-1412T>A) c.656T>A (p.Ile219Asn) c.3881T>A (p.Ile1294Asn) c.3725T>A (p.Ile1242Asn) c.3719-1412T>A (n.3719-1412T>A) c.-119-1412T>A (n.-119-1412T>A) c.3737T>A (p.Ile1246Asn) n.570T>A c.3782T>A (p.Ile1261Asn) c.3740-1412T>A (n.3740-1412T>A) c.3779T>A (p.Ile1260Asn) c.3770T>A (p.Ile1257Asn) c.3764T>A (p.Ile1255Asn) c.3755T>A (p.Ile1252Asn) c.3752T>A (p.Ile1251Asn) c.3722T>A (p.Ile1241Asn) c.3692T>A (p.Ile1231Asn) c.3695-1412T>A (n.3695-1412T>A) c.2987T>A (p.Ile996Asn) c.2942T>A (p.Ile981Asn) c.2915T>A (p.Ile972Asn) c.2822T>A (p.Ile941Asn) c.3653-1412T>A (n.3653-1412T>A) c.3695T>A (p.Ile1232Asn) c.3734T>A (p.Ile1245Asn) c.3608-1412T>A (n.3608-1412T>A) c.3638-1412T>A (n.3638-1412T>A) c.3758T>A (p.Ile1253Asn) c.3749T>A (p.Ile1250Asn) c.3668-1412T>A (n.3668-1412T>A) c.3809T>A (p.Ile1270Asn) c.3806T>A (p.Ile1269Asn) c.3797T>A (p.Ile1266Asn) c.3791T>A (p.Ile1264Asn) c.3788T>A (p.Ile1263Asn) c.3746T>A (p.Ile1249Asn) c.3767-1412T>A (n.3767-1412T>A) c.3713-1412T>A (n.3713-1412T>A) c.3701-1412T>A (n.3701-1412T>A) c.2849T>A (p.Ile950Asn) | |
| 2 | g.50055003T>A | CA346820126 | NRXN1 | c.3760A>T (p.Ile1254Phe) n.927A>T c.606-1413A>T (n.606-1413A>T) c.614-1413A>T (n.614-1413A>T) c.655A>T (p.Ile219Phe) c.3880A>T (p.Ile1294Phe) c.3724A>T (p.Ile1242Phe) c.3719-1413A>T (n.3719-1413A>T) c.-119-1413A>T (n.-119-1413A>T) c.3736A>T (p.Ile1246Phe) n.569A>T c.3781A>T (p.Ile1261Phe) c.3740-1413A>T (n.3740-1413A>T) c.3778A>T (p.Ile1260Phe) c.3769A>T (p.Ile1257Phe) c.3763A>T (p.Ile1255Phe) c.3754A>T (p.Ile1252Phe) c.3751A>T (p.Ile1251Phe) c.3721A>T (p.Ile1241Phe) c.3691A>T (p.Ile1231Phe) c.3695-1413A>T (n.3695-1413A>T) c.2986A>T (p.Ile996Phe) c.2941A>T (p.Ile981Phe) c.2914A>T (p.Ile972Phe) c.2821A>T (p.Ile941Phe) c.3653-1413A>T (n.3653-1413A>T) c.3694A>T (p.Ile1232Phe) c.3733A>T (p.Ile1245Phe) c.3608-1413A>T (n.3608-1413A>T) c.3638-1413A>T (n.3638-1413A>T) c.3757A>T (p.Ile1253Phe) c.3748A>T (p.Ile1250Phe) c.3668-1413A>T (n.3668-1413A>T) c.3808A>T (p.Ile1270Phe) c.3805A>T (p.Ile1269Phe) c.3796A>T (p.Ile1266Phe) c.3790A>T (p.Ile1264Phe) c.3787A>T (p.Ile1263Phe) c.3745A>T (p.Ile1249Phe) c.3767-1413A>T (n.3767-1413A>T) c.3713-1413A>T (n.3713-1413A>T) c.3701-1413A>T (n.3701-1413A>T) c.2848A>T (p.Ile950Phe) | |
| 2 | g.50055003T>C | CA346820127 | NRXN1 | c.3760A>G (p.Ile1254Val) n.927A>G c.606-1413A>G (n.606-1413A>G) c.614-1413A>G (n.614-1413A>G) c.655A>G (p.Ile219Val) c.3880A>G (p.Ile1294Val) c.3724A>G (p.Ile1242Val) c.3719-1413A>G (n.3719-1413A>G) c.-119-1413A>G (n.-119-1413A>G) c.3736A>G (p.Ile1246Val) n.569A>G c.3781A>G (p.Ile1261Val) c.3740-1413A>G (n.3740-1413A>G) c.3778A>G (p.Ile1260Val) c.3769A>G (p.Ile1257Val) c.3763A>G (p.Ile1255Val) c.3754A>G (p.Ile1252Val) c.3751A>G (p.Ile1251Val) c.3721A>G (p.Ile1241Val) c.3691A>G (p.Ile1231Val) c.3695-1413A>G (n.3695-1413A>G) c.2986A>G (p.Ile996Val) c.2941A>G (p.Ile981Val) c.2914A>G (p.Ile972Val) c.2821A>G (p.Ile941Val) c.3653-1413A>G (n.3653-1413A>G) c.3694A>G (p.Ile1232Val) c.3733A>G (p.Ile1245Val) c.3608-1413A>G (n.3608-1413A>G) c.3638-1413A>G (n.3638-1413A>G) c.3757A>G (p.Ile1253Val) c.3748A>G (p.Ile1250Val) c.3668-1413A>G (n.3668-1413A>G) c.3808A>G (p.Ile1270Val) c.3805A>G (p.Ile1269Val) c.3796A>G (p.Ile1266Val) c.3790A>G (p.Ile1264Val) c.3787A>G (p.Ile1263Val) c.3745A>G (p.Ile1249Val) c.3767-1413A>G (n.3767-1413A>G) c.3713-1413A>G (n.3713-1413A>G) c.3701-1413A>G (n.3701-1413A>G) c.2848A>G (p.Ile950Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.50055003T>G | CA346820128 | NRXN1 | c.3760A>C (p.Ile1254Leu) n.927A>C c.606-1413A>C (n.606-1413A>C) c.614-1413A>C (n.614-1413A>C) c.655A>C (p.Ile219Leu) c.3880A>C (p.Ile1294Leu) c.3724A>C (p.Ile1242Leu) c.3719-1413A>C (n.3719-1413A>C) c.-119-1413A>C (n.-119-1413A>C) c.3736A>C (p.Ile1246Leu) n.569A>C c.3781A>C (p.Ile1261Leu) c.3740-1413A>C (n.3740-1413A>C) c.3778A>C (p.Ile1260Leu) c.3769A>C (p.Ile1257Leu) c.3763A>C (p.Ile1255Leu) c.3754A>C (p.Ile1252Leu) c.3751A>C (p.Ile1251Leu) c.3721A>C (p.Ile1241Leu) c.3691A>C (p.Ile1231Leu) c.3695-1413A>C (n.3695-1413A>C) c.2986A>C (p.Ile996Leu) c.2941A>C (p.Ile981Leu) c.2914A>C (p.Ile972Leu) c.2821A>C (p.Ile941Leu) c.3653-1413A>C (n.3653-1413A>C) c.3694A>C (p.Ile1232Leu) c.3733A>C (p.Ile1245Leu) c.3608-1413A>C (n.3608-1413A>C) c.3638-1413A>C (n.3638-1413A>C) c.3757A>C (p.Ile1253Leu) c.3748A>C (p.Ile1250Leu) c.3668-1413A>C (n.3668-1413A>C) c.3808A>C (p.Ile1270Leu) c.3805A>C (p.Ile1269Leu) c.3796A>C (p.Ile1266Leu) c.3790A>C (p.Ile1264Leu) c.3787A>C (p.Ile1263Leu) c.3745A>C (p.Ile1249Leu) c.3767-1413A>C (n.3767-1413A>C) c.3713-1413A>C (n.3713-1413A>C) c.3701-1413A>C (n.3701-1413A>C) c.2848A>C (p.Ile950Leu) | |
| 2 | g.50055003T= | CA1249354466 | NRXN1 | c.3760A= (p.Ile1254=) n.927A= c.606-1413A= (n.606-1413A=) c.614-1413A= (n.614-1413A=) c.655A= (p.Ile219=) c.3880A= (p.Ile1294=) c.3724A= (p.Ile1242=) c.3719-1413A= (n.3719-1413A=) c.-119-1413A= (n.-119-1413A=) c.3736A= (p.Ile1246=) n.569A= c.3781A= (p.Ile1261=) c.3740-1413A= (n.3740-1413A=) c.3778A= (p.Ile1260=) c.3769A= (p.Ile1257=) c.3763A= (p.Ile1255=) c.3754A= (p.Ile1252=) c.3751A= (p.Ile1251=) c.3721A= (p.Ile1241=) c.3691A= (p.Ile1231=) c.3695-1413A= (n.3695-1413A=) c.2986A= (p.Ile996=) c.2941A= (p.Ile981=) c.2914A= (p.Ile972=) c.2821A= (p.Ile941=) c.3653-1413A= (n.3653-1413A=) c.3694A= (p.Ile1232=) c.3733A= (p.Ile1245=) c.3608-1413A= (n.3608-1413A=) c.3638-1413A= (n.3638-1413A=) c.3757A= (p.Ile1253=) c.3748A= (p.Ile1250=) c.3668-1413A= (n.3668-1413A=) c.3808A= (p.Ile1270=) c.3805A= (p.Ile1269=) c.3796A= (p.Ile1266=) c.3790A= (p.Ile1264=) c.3787A= (p.Ile1263=) c.3745A= (p.Ile1249=) c.3767-1413A= (n.3767-1413A=) c.3713-1413A= (n.3713-1413A=) c.3701-1413A= (n.3701-1413A=) c.2848A= (p.Ile950=) | |
| 2 | g.50055004T>A | CA426101677 | NRXN1 | c.3759A>T (p.Arg1253=) n.926A>T c.606-1414A>T (n.606-1414A>T) c.614-1414A>T (n.614-1414A>T) c.654A>T (p.Arg218=) c.3879A>T (p.Arg1293=) c.3723A>T (p.Arg1241=) c.3719-1414A>T (n.3719-1414A>T) c.-119-1414A>T (n.-119-1414A>T) c.3735A>T (p.Arg1245=) n.568A>T c.3780A>T (p.Arg1260=) c.3740-1414A>T (n.3740-1414A>T) c.3777A>T (p.Arg1259=) c.3768A>T (p.Arg1256=) c.3762A>T (p.Arg1254=) c.3753A>T (p.Arg1251=) c.3750A>T (p.Arg1250=) c.3720A>T (p.Arg1240=) c.3690A>T (p.Arg1230=) c.3695-1414A>T (n.3695-1414A>T) c.2985A>T (p.Arg995=) c.2940A>T (p.Arg980=) c.2913A>T (p.Arg971=) c.2820A>T (p.Arg940=) c.3653-1414A>T (n.3653-1414A>T) c.3693A>T (p.Arg1231=) c.3732A>T (p.Arg1244=) c.3608-1414A>T (n.3608-1414A>T) c.3638-1414A>T (n.3638-1414A>T) c.3756A>T (p.Arg1252=) c.3747A>T (p.Arg1249=) c.3668-1414A>T (n.3668-1414A>T) c.3807A>T (p.Arg1269=) c.3804A>T (p.Arg1268=) c.3795A>T (p.Arg1265=) c.3789A>T (p.Arg1263=) c.3786A>T (p.Arg1262=) c.3744A>T (p.Arg1248=) c.3767-1414A>T (n.3767-1414A>T) c.3713-1414A>T (n.3713-1414A>T) c.3701-1414A>T (n.3701-1414A>T) c.2847A>T (p.Arg949=) | |
| 2 | g.50055004T>C | CA426101676 | NRXN1 | c.3759A>G (p.Arg1253=) n.926A>G c.606-1414A>G (n.606-1414A>G) c.614-1414A>G (n.614-1414A>G) c.654A>G (p.Arg218=) c.3879A>G (p.Arg1293=) c.3723A>G (p.Arg1241=) c.3719-1414A>G (n.3719-1414A>G) c.-119-1414A>G (n.-119-1414A>G) c.3735A>G (p.Arg1245=) n.568A>G c.3780A>G (p.Arg1260=) c.3740-1414A>G (n.3740-1414A>G) c.3777A>G (p.Arg1259=) c.3768A>G (p.Arg1256=) c.3762A>G (p.Arg1254=) c.3753A>G (p.Arg1251=) c.3750A>G (p.Arg1250=) c.3720A>G (p.Arg1240=) c.3690A>G (p.Arg1230=) c.3695-1414A>G (n.3695-1414A>G) c.2985A>G (p.Arg995=) c.2940A>G (p.Arg980=) c.2913A>G (p.Arg971=) c.2820A>G (p.Arg940=) c.3653-1414A>G (n.3653-1414A>G) c.3693A>G (p.Arg1231=) c.3732A>G (p.Arg1244=) c.3608-1414A>G (n.3608-1414A>G) c.3638-1414A>G (n.3638-1414A>G) c.3756A>G (p.Arg1252=) c.3747A>G (p.Arg1249=) c.3668-1414A>G (n.3668-1414A>G) c.3807A>G (p.Arg1269=) c.3804A>G (p.Arg1268=) c.3795A>G (p.Arg1265=) c.3789A>G (p.Arg1263=) c.3786A>G (p.Arg1262=) c.3744A>G (p.Arg1248=) c.3767-1414A>G (n.3767-1414A>G) c.3713-1414A>G (n.3713-1414A>G) c.3701-1414A>G (n.3701-1414A>G) c.2847A>G (p.Arg949=) | |
| 2 | g.50055004T>G | CA426101675 | NRXN1 | c.3759A>C (p.Arg1253=) n.926A>C c.606-1414A>C (n.606-1414A>C) c.614-1414A>C (n.614-1414A>C) c.654A>C (p.Arg218=) c.3879A>C (p.Arg1293=) c.3723A>C (p.Arg1241=) c.3719-1414A>C (n.3719-1414A>C) c.-119-1414A>C (n.-119-1414A>C) c.3735A>C (p.Arg1245=) n.568A>C c.3780A>C (p.Arg1260=) c.3740-1414A>C (n.3740-1414A>C) c.3777A>C (p.Arg1259=) c.3768A>C (p.Arg1256=) c.3762A>C (p.Arg1254=) c.3753A>C (p.Arg1251=) c.3750A>C (p.Arg1250=) c.3720A>C (p.Arg1240=) c.3690A>C (p.Arg1230=) c.3695-1414A>C (n.3695-1414A>C) c.2985A>C (p.Arg995=) c.2940A>C (p.Arg980=) c.2913A>C (p.Arg971=) c.2820A>C (p.Arg940=) c.3653-1414A>C (n.3653-1414A>C) c.3693A>C (p.Arg1231=) c.3732A>C (p.Arg1244=) c.3608-1414A>C (n.3608-1414A>C) c.3638-1414A>C (n.3638-1414A>C) c.3756A>C (p.Arg1252=) c.3747A>C (p.Arg1249=) c.3668-1414A>C (n.3668-1414A>C) c.3807A>C (p.Arg1269=) c.3804A>C (p.Arg1268=) c.3795A>C (p.Arg1265=) c.3789A>C (p.Arg1263=) c.3786A>C (p.Arg1262=) c.3744A>C (p.Arg1248=) c.3767-1414A>C (n.3767-1414A>C) c.3713-1414A>C (n.3713-1414A>C) c.3701-1414A>C (n.3701-1414A>C) c.2847A>C (p.Arg949=) | COSMIC COSMIC COSMIC |
| 2 | g.50055005C>A | CA346820129 | NRXN1 | c.3758G>T (p.Arg1253Leu) n.925G>T c.606-1415G>T (n.606-1415G>T) c.614-1415G>T (n.614-1415G>T) c.653G>T (p.Arg218Leu) c.3878G>T (p.Arg1293Leu) c.3722G>T (p.Arg1241Leu) c.3719-1415G>T (n.3719-1415G>T) c.-119-1415G>T (n.-119-1415G>T) c.3734G>T (p.Arg1245Leu) n.567G>T c.3779G>T (p.Arg1260Leu) c.3740-1415G>T (n.3740-1415G>T) c.3776G>T (p.Arg1259Leu) c.3767G>T (p.Arg1256Leu) c.3761G>T (p.Arg1254Leu) c.3752G>T (p.Arg1251Leu) c.3749G>T (p.Arg1250Leu) c.3719G>T (p.Arg1240Leu) c.3689G>T (p.Arg1230Leu) c.3695-1415G>T (n.3695-1415G>T) c.2984G>T (p.Arg995Leu) c.2939G>T (p.Arg980Leu) c.2912G>T (p.Arg971Leu) c.2819G>T (p.Arg940Leu) c.3653-1415G>T (n.3653-1415G>T) c.3692G>T (p.Arg1231Leu) c.3731G>T (p.Arg1244Leu) c.3608-1415G>T (n.3608-1415G>T) c.3638-1415G>T (n.3638-1415G>T) c.3755G>T (p.Arg1252Leu) c.3746G>T (p.Arg1249Leu) c.3668-1415G>T (n.3668-1415G>T) c.3806G>T (p.Arg1269Leu) c.3803G>T (p.Arg1268Leu) c.3794G>T (p.Arg1265Leu) c.3788G>T (p.Arg1263Leu) c.3785G>T (p.Arg1262Leu) c.3743G>T (p.Arg1248Leu) c.3767-1415G>T (n.3767-1415G>T) c.3713-1415G>T (n.3713-1415G>T) c.3701-1415G>T (n.3701-1415G>T) c.2846G>T (p.Arg949Leu) | gnomAD v4 |
| 2 | g.50055005C= | CA1249354467 | NRXN1 | c.3758G= (p.Arg1253=) n.925G= c.606-1415G= (n.606-1415G=) c.614-1415G= (n.614-1415G=) c.653G= (p.Arg218=) c.3878G= (p.Arg1293=) c.3722G= (p.Arg1241=) c.3719-1415G= (n.3719-1415G=) c.-119-1415G= (n.-119-1415G=) c.3734G= (p.Arg1245=) n.567G= c.3779G= (p.Arg1260=) c.3740-1415G= (n.3740-1415G=) c.3776G= (p.Arg1259=) c.3767G= (p.Arg1256=) c.3761G= (p.Arg1254=) c.3752G= (p.Arg1251=) c.3749G= (p.Arg1250=) c.3719G= (p.Arg1240=) c.3689G= (p.Arg1230=) c.3695-1415G= (n.3695-1415G=) c.2984G= (p.Arg995=) c.2939G= (p.Arg980=) c.2912G= (p.Arg971=) c.2819G= (p.Arg940=) c.3653-1415G= (n.3653-1415G=) c.3692G= (p.Arg1231=) c.3731G= (p.Arg1244=) c.3608-1415G= (n.3608-1415G=) c.3638-1415G= (n.3638-1415G=) c.3755G= (p.Arg1252=) c.3746G= (p.Arg1249=) c.3668-1415G= (n.3668-1415G=) c.3806G= (p.Arg1269=) c.3803G= (p.Arg1268=) c.3794G= (p.Arg1265=) c.3788G= (p.Arg1263=) c.3785G= (p.Arg1262=) c.3743G= (p.Arg1248=) c.3767-1415G= (n.3767-1415G=) c.3713-1415G= (n.3713-1415G=) c.3701-1415G= (n.3701-1415G=) c.2846G= (p.Arg949=) | |
| 2 | g.50055005C>G | CA346820130 | NRXN1 | c.3758G>C (p.Arg1253Pro) n.925G>C c.606-1415G>C (n.606-1415G>C) c.614-1415G>C (n.614-1415G>C) c.653G>C (p.Arg218Pro) c.3878G>C (p.Arg1293Pro) c.3722G>C (p.Arg1241Pro) c.3719-1415G>C (n.3719-1415G>C) c.-119-1415G>C (n.-119-1415G>C) c.3734G>C (p.Arg1245Pro) n.567G>C c.3779G>C (p.Arg1260Pro) c.3740-1415G>C (n.3740-1415G>C) c.3776G>C (p.Arg1259Pro) c.3767G>C (p.Arg1256Pro) c.3761G>C (p.Arg1254Pro) c.3752G>C (p.Arg1251Pro) c.3749G>C (p.Arg1250Pro) c.3719G>C (p.Arg1240Pro) c.3689G>C (p.Arg1230Pro) c.3695-1415G>C (n.3695-1415G>C) c.2984G>C (p.Arg995Pro) c.2939G>C (p.Arg980Pro) c.2912G>C (p.Arg971Pro) c.2819G>C (p.Arg940Pro) c.3653-1415G>C (n.3653-1415G>C) c.3692G>C (p.Arg1231Pro) c.3731G>C (p.Arg1244Pro) c.3608-1415G>C (n.3608-1415G>C) c.3638-1415G>C (n.3638-1415G>C) c.3755G>C (p.Arg1252Pro) c.3746G>C (p.Arg1249Pro) c.3668-1415G>C (n.3668-1415G>C) c.3806G>C (p.Arg1269Pro) c.3803G>C (p.Arg1268Pro) c.3794G>C (p.Arg1265Pro) c.3788G>C (p.Arg1263Pro) c.3785G>C (p.Arg1262Pro) c.3743G>C (p.Arg1248Pro) c.3767-1415G>C (n.3767-1415G>C) c.3713-1415G>C (n.3713-1415G>C) c.3701-1415G>C (n.3701-1415G>C) c.2846G>C (p.Arg949Pro) | |
| 2 | g.50055005C>T | CA346820131 | NRXN1 | c.3758G>A (p.Arg1253Gln) n.925G>A c.606-1415G>A (n.606-1415G>A) c.614-1415G>A (n.614-1415G>A) c.653G>A (p.Arg218Gln) c.3878G>A (p.Arg1293Gln) c.3722G>A (p.Arg1241Gln) c.3719-1415G>A (n.3719-1415G>A) c.-119-1415G>A (n.-119-1415G>A) c.3734G>A (p.Arg1245Gln) n.567G>A c.3779G>A (p.Arg1260Gln) c.3740-1415G>A (n.3740-1415G>A) c.3776G>A (p.Arg1259Gln) c.3767G>A (p.Arg1256Gln) c.3761G>A (p.Arg1254Gln) c.3752G>A (p.Arg1251Gln) c.3749G>A (p.Arg1250Gln) c.3719G>A (p.Arg1240Gln) c.3689G>A (p.Arg1230Gln) c.3695-1415G>A (n.3695-1415G>A) c.2984G>A (p.Arg995Gln) c.2939G>A (p.Arg980Gln) c.2912G>A (p.Arg971Gln) c.2819G>A (p.Arg940Gln) c.3653-1415G>A (n.3653-1415G>A) c.3692G>A (p.Arg1231Gln) c.3731G>A (p.Arg1244Gln) c.3608-1415G>A (n.3608-1415G>A) c.3638-1415G>A (n.3638-1415G>A) c.3755G>A (p.Arg1252Gln) c.3746G>A (p.Arg1249Gln) c.3668-1415G>A (n.3668-1415G>A) c.3806G>A (p.Arg1269Gln) c.3803G>A (p.Arg1268Gln) c.3794G>A (p.Arg1265Gln) c.3788G>A (p.Arg1263Gln) c.3785G>A (p.Arg1262Gln) c.3743G>A (p.Arg1248Gln) c.3767-1415G>A (n.3767-1415G>A) c.3713-1415G>A (n.3713-1415G>A) c.3701-1415G>A (n.3701-1415G>A) c.2846G>A (p.Arg949Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.50055006G>A | CA346820132 | NRXN1 | c.3757C>T (p.Arg1253Ter) n.924C>T c.606-1416C>T (n.606-1416C>T) c.614-1416C>T (n.614-1416C>T) c.652C>T (p.Arg218Ter) c.3877C>T (p.Arg1293Ter) c.3721C>T (p.Arg1241Ter) c.3719-1416C>T (n.3719-1416C>T) c.-119-1416C>T (n.-119-1416C>T) c.3733C>T (p.Arg1245Ter) n.566C>T c.3778C>T (p.Arg1260Ter) c.3740-1416C>T (n.3740-1416C>T) c.3775C>T (p.Arg1259Ter) c.3766C>T (p.Arg1256Ter) c.3760C>T (p.Arg1254Ter) c.3751C>T (p.Arg1251Ter) c.3748C>T (p.Arg1250Ter) c.3718C>T (p.Arg1240Ter) c.3688C>T (p.Arg1230Ter) c.3695-1416C>T (n.3695-1416C>T) c.2983C>T (p.Arg995Ter) c.2938C>T (p.Arg980Ter) c.2911C>T (p.Arg971Ter) c.2818C>T (p.Arg940Ter) c.3653-1416C>T (n.3653-1416C>T) c.3691C>T (p.Arg1231Ter) c.3730C>T (p.Arg1244Ter) c.3608-1416C>T (n.3608-1416C>T) c.3638-1416C>T (n.3638-1416C>T) c.3754C>T (p.Arg1252Ter) c.3745C>T (p.Arg1249Ter) c.3668-1416C>T (n.3668-1416C>T) c.3805C>T (p.Arg1269Ter) c.3802C>T (p.Arg1268Ter) c.3793C>T (p.Arg1265Ter) c.3787C>T (p.Arg1263Ter) c.3784C>T (p.Arg1262Ter) c.3742C>T (p.Arg1248Ter) c.3767-1416C>T (n.3767-1416C>T) c.3713-1416C>T (n.3713-1416C>T) c.3701-1416C>T (n.3701-1416C>T) c.2845C>T (p.Arg949Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.50055006G>C | CA346820133 | NRXN1 | c.3757C>G (p.Arg1253Gly) n.924C>G c.606-1416C>G (n.606-1416C>G) c.614-1416C>G (n.614-1416C>G) c.652C>G (p.Arg218Gly) c.3877C>G (p.Arg1293Gly) c.3721C>G (p.Arg1241Gly) c.3719-1416C>G (n.3719-1416C>G) c.-119-1416C>G (n.-119-1416C>G) c.3733C>G (p.Arg1245Gly) n.566C>G c.3778C>G (p.Arg1260Gly) c.3740-1416C>G (n.3740-1416C>G) c.3775C>G (p.Arg1259Gly) c.3766C>G (p.Arg1256Gly) c.3760C>G (p.Arg1254Gly) c.3751C>G (p.Arg1251Gly) c.3748C>G (p.Arg1250Gly) c.3718C>G (p.Arg1240Gly) c.3688C>G (p.Arg1230Gly) c.3695-1416C>G (n.3695-1416C>G) c.2983C>G (p.Arg995Gly) c.2938C>G (p.Arg980Gly) c.2911C>G (p.Arg971Gly) c.2818C>G (p.Arg940Gly) c.3653-1416C>G (n.3653-1416C>G) c.3691C>G (p.Arg1231Gly) c.3730C>G (p.Arg1244Gly) c.3608-1416C>G (n.3608-1416C>G) c.3638-1416C>G (n.3638-1416C>G) c.3754C>G (p.Arg1252Gly) c.3745C>G (p.Arg1249Gly) c.3668-1416C>G (n.3668-1416C>G) c.3805C>G (p.Arg1269Gly) c.3802C>G (p.Arg1268Gly) c.3793C>G (p.Arg1265Gly) c.3787C>G (p.Arg1263Gly) c.3784C>G (p.Arg1262Gly) c.3742C>G (p.Arg1248Gly) c.3767-1416C>G (n.3767-1416C>G) c.3713-1416C>G (n.3713-1416C>G) c.3701-1416C>G (n.3701-1416C>G) c.2845C>G (p.Arg949Gly) | |
| 2 | g.50055006G= | CA1249354468 | NRXN1 | c.3757C= (p.Arg1253=) n.924C= c.606-1416C= (n.606-1416C=) c.614-1416C= (n.614-1416C=) c.652C= (p.Arg218=) c.3877C= (p.Arg1293=) c.3721C= (p.Arg1241=) c.3719-1416C= (n.3719-1416C=) c.-119-1416C= (n.-119-1416C=) c.3733C= (p.Arg1245=) n.566C= c.3778C= (p.Arg1260=) c.3740-1416C= (n.3740-1416C=) c.3775C= (p.Arg1259=) c.3766C= (p.Arg1256=) c.3760C= (p.Arg1254=) c.3751C= (p.Arg1251=) c.3748C= (p.Arg1250=) c.3718C= (p.Arg1240=) c.3688C= (p.Arg1230=) c.3695-1416C= (n.3695-1416C=) c.2983C= (p.Arg995=) c.2938C= (p.Arg980=) c.2911C= (p.Arg971=) c.2818C= (p.Arg940=) c.3653-1416C= (n.3653-1416C=) c.3691C= (p.Arg1231=) c.3730C= (p.Arg1244=) c.3608-1416C= (n.3608-1416C=) c.3638-1416C= (n.3638-1416C=) c.3754C= (p.Arg1252=) c.3745C= (p.Arg1249=) c.3668-1416C= (n.3668-1416C=) c.3805C= (p.Arg1269=) c.3802C= (p.Arg1268=) c.3793C= (p.Arg1265=) c.3787C= (p.Arg1263=) c.3784C= (p.Arg1262=) c.3742C= (p.Arg1248=) c.3767-1416C= (n.3767-1416C=) c.3713-1416C= (n.3713-1416C=) c.3701-1416C= (n.3701-1416C=) c.2845C= (p.Arg949=) | |
| 2 | g.50055006G>T | CA426101679 | NRXN1 | c.3757C>A (p.Arg1253=) n.924C>A c.606-1416C>A (n.606-1416C>A) c.614-1416C>A (n.614-1416C>A) c.652C>A (p.Arg218=) c.3877C>A (p.Arg1293=) c.3721C>A (p.Arg1241=) c.3719-1416C>A (n.3719-1416C>A) c.-119-1416C>A (n.-119-1416C>A) c.3733C>A (p.Arg1245=) n.566C>A c.3778C>A (p.Arg1260=) c.3740-1416C>A (n.3740-1416C>A) c.3775C>A (p.Arg1259=) c.3766C>A (p.Arg1256=) c.3760C>A (p.Arg1254=) c.3751C>A (p.Arg1251=) c.3748C>A (p.Arg1250=) c.3718C>A (p.Arg1240=) c.3688C>A (p.Arg1230=) c.3695-1416C>A (n.3695-1416C>A) c.2983C>A (p.Arg995=) c.2938C>A (p.Arg980=) c.2911C>A (p.Arg971=) c.2818C>A (p.Arg940=) c.3653-1416C>A (n.3653-1416C>A) c.3691C>A (p.Arg1231=) c.3730C>A (p.Arg1244=) c.3608-1416C>A (n.3608-1416C>A) c.3638-1416C>A (n.3638-1416C>A) c.3754C>A (p.Arg1252=) c.3745C>A (p.Arg1249=) c.3668-1416C>A (n.3668-1416C>A) c.3805C>A (p.Arg1269=) c.3802C>A (p.Arg1268=) c.3793C>A (p.Arg1265=) c.3787C>A (p.Arg1263=) c.3784C>A (p.Arg1262=) c.3742C>A (p.Arg1248=) c.3767-1416C>A (n.3767-1416C>A) c.3713-1416C>A (n.3713-1416C>A) c.3701-1416C>A (n.3701-1416C>A) c.2845C>A (p.Arg949=) | ClinVar gnomAD v4 |
| 2 | g.50055007C>A | CA346820134 | NRXN1 | c.3756G>T (p.Gln1252His) n.923G>T c.606-1417G>T (n.606-1417G>T) c.614-1417G>T (n.614-1417G>T) c.651G>T (p.Gln217His) c.3876G>T (p.Gln1292His) c.3720G>T (p.Gln1240His) c.3719-1417G>T (n.3719-1417G>T) c.-119-1417G>T (n.-119-1417G>T) c.3732G>T (p.Gln1244His) n.565G>T c.3777G>T (p.Gln1259His) c.3740-1417G>T (n.3740-1417G>T) c.3774G>T (p.Gln1258His) c.3765G>T (p.Gln1255His) c.3759G>T (p.Gln1253His) c.3750G>T (p.Gln1250His) c.3747G>T (p.Gln1249His) c.3717G>T (p.Gln1239His) c.3687G>T (p.Gln1229His) c.3695-1417G>T (n.3695-1417G>T) c.2982G>T (p.Gln994His) c.2937G>T (p.Gln979His) c.2910G>T (p.Gln970His) c.2817G>T (p.Gln939His) c.3653-1417G>T (n.3653-1417G>T) c.3690G>T (p.Gln1230His) c.3729G>T (p.Gln1243His) c.3608-1417G>T (n.3608-1417G>T) c.3638-1417G>T (n.3638-1417G>T) c.3753G>T (p.Gln1251His) c.3744G>T (p.Gln1248His) c.3668-1417G>T (n.3668-1417G>T) c.3804G>T (p.Gln1268His) c.3801G>T (p.Gln1267His) c.3792G>T (p.Gln1264His) c.3786G>T (p.Gln1262His) c.3783G>T (p.Gln1261His) c.3741G>T (p.Gln1247His) c.3767-1417G>T (n.3767-1417G>T) c.3713-1417G>T (n.3713-1417G>T) c.3701-1417G>T (n.3701-1417G>T) c.2844G>T (p.Gln948His) | gnomAD v4 |
| 2 | g.50055007C>G | CA346820135 | NRXN1 | c.3756G>C (p.Gln1252His) n.923G>C c.606-1417G>C (n.606-1417G>C) c.614-1417G>C (n.614-1417G>C) c.651G>C (p.Gln217His) c.3876G>C (p.Gln1292His) c.3720G>C (p.Gln1240His) c.3719-1417G>C (n.3719-1417G>C) c.-119-1417G>C (n.-119-1417G>C) c.3732G>C (p.Gln1244His) n.565G>C c.3777G>C (p.Gln1259His) c.3740-1417G>C (n.3740-1417G>C) c.3774G>C (p.Gln1258His) c.3765G>C (p.Gln1255His) c.3759G>C (p.Gln1253His) c.3750G>C (p.Gln1250His) c.3747G>C (p.Gln1249His) c.3717G>C (p.Gln1239His) c.3687G>C (p.Gln1229His) c.3695-1417G>C (n.3695-1417G>C) c.2982G>C (p.Gln994His) c.2937G>C (p.Gln979His) c.2910G>C (p.Gln970His) c.2817G>C (p.Gln939His) c.3653-1417G>C (n.3653-1417G>C) c.3690G>C (p.Gln1230His) c.3729G>C (p.Gln1243His) c.3608-1417G>C (n.3608-1417G>C) c.3638-1417G>C (n.3638-1417G>C) c.3753G>C (p.Gln1251His) c.3744G>C (p.Gln1248His) c.3668-1417G>C (n.3668-1417G>C) c.3804G>C (p.Gln1268His) c.3801G>C (p.Gln1267His) c.3792G>C (p.Gln1264His) c.3786G>C (p.Gln1262His) c.3783G>C (p.Gln1261His) c.3741G>C (p.Gln1247His) c.3767-1417G>C (n.3767-1417G>C) c.3713-1417G>C (n.3713-1417G>C) c.3701-1417G>C (n.3701-1417G>C) c.2844G>C (p.Gln948His) | |
| 2 | g.50055007C>T | CA426101682 | NRXN1 | c.3756G>A (p.Gln1252=) n.923G>A c.606-1417G>A (n.606-1417G>A) c.614-1417G>A (n.614-1417G>A) c.651G>A (p.Gln217=) c.3876G>A (p.Gln1292=) c.3720G>A (p.Gln1240=) c.3719-1417G>A (n.3719-1417G>A) c.-119-1417G>A (n.-119-1417G>A) c.3732G>A (p.Gln1244=) n.565G>A c.3777G>A (p.Gln1259=) c.3740-1417G>A (n.3740-1417G>A) c.3774G>A (p.Gln1258=) c.3765G>A (p.Gln1255=) c.3759G>A (p.Gln1253=) c.3750G>A (p.Gln1250=) c.3747G>A (p.Gln1249=) c.3717G>A (p.Gln1239=) c.3687G>A (p.Gln1229=) c.3695-1417G>A (n.3695-1417G>A) c.2982G>A (p.Gln994=) c.2937G>A (p.Gln979=) c.2910G>A (p.Gln970=) c.2817G>A (p.Gln939=) c.3653-1417G>A (n.3653-1417G>A) c.3690G>A (p.Gln1230=) c.3729G>A (p.Gln1243=) c.3608-1417G>A (n.3608-1417G>A) c.3638-1417G>A (n.3638-1417G>A) c.3753G>A (p.Gln1251=) c.3744G>A (p.Gln1248=) c.3668-1417G>A (n.3668-1417G>A) c.3804G>A (p.Gln1268=) c.3801G>A (p.Gln1267=) c.3792G>A (p.Gln1264=) c.3786G>A (p.Gln1262=) c.3783G>A (p.Gln1261=) c.3741G>A (p.Gln1247=) c.3767-1417G>A (n.3767-1417G>A) c.3713-1417G>A (n.3713-1417G>A) c.3701-1417G>A (n.3701-1417G>A) c.2844G>A (p.Gln948=) | |
| 2 | g.50055008T>A | CA346820137 | NRXN1 | c.3755A>T (p.Gln1252Leu) n.922A>T c.606-1418A>T (n.606-1418A>T) c.614-1418A>T (n.614-1418A>T) c.650A>T (p.Gln217Leu) c.3875A>T (p.Gln1292Leu) c.3719A>T (p.Gln1240Leu) c.3719-1418A>T (n.3719-1418A>T) c.-119-1418A>T (n.-119-1418A>T) c.3731A>T (p.Gln1244Leu) n.564A>T c.3776A>T (p.Gln1259Leu) c.3740-1418A>T (n.3740-1418A>T) c.3773A>T (p.Gln1258Leu) c.3764A>T (p.Gln1255Leu) c.3758A>T (p.Gln1253Leu) c.3749A>T (p.Gln1250Leu) c.3746A>T (p.Gln1249Leu) c.3716A>T (p.Gln1239Leu) c.3686A>T (p.Gln1229Leu) c.3695-1418A>T (n.3695-1418A>T) c.2981A>T (p.Gln994Leu) c.2936A>T (p.Gln979Leu) c.2909A>T (p.Gln970Leu) c.2816A>T (p.Gln939Leu) c.3653-1418A>T (n.3653-1418A>T) c.3689A>T (p.Gln1230Leu) c.3728A>T (p.Gln1243Leu) c.3608-1418A>T (n.3608-1418A>T) c.3638-1418A>T (n.3638-1418A>T) c.3752A>T (p.Gln1251Leu) c.3743A>T (p.Gln1248Leu) c.3668-1418A>T (n.3668-1418A>T) c.3803A>T (p.Gln1268Leu) c.3800A>T (p.Gln1267Leu) c.3791A>T (p.Gln1264Leu) c.3785A>T (p.Gln1262Leu) c.3782A>T (p.Gln1261Leu) c.3740A>T (p.Gln1247Leu) c.3767-1418A>T (n.3767-1418A>T) c.3713-1418A>T (n.3713-1418A>T) c.3701-1418A>T (n.3701-1418A>T) c.2843A>T (p.Gln948Leu) |