Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.50055002A>CCA346820123NRXN1c.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)
2g.50055002A>GCA346820124NRXN1c.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)
2g.50055002A>TCA346820125NRXN1c.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)
2g.50055003T>ACA346820126NRXN1c.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)
2g.50055003T>CCA346820127NRXN1c.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
2g.50055003T>GCA346820128NRXN1c.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)
2g.50055003T=CA1249354466NRXN1c.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=)
2g.50055004T>ACA426101677NRXN1c.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=)
2g.50055004T>CCA426101676NRXN1c.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=)
2g.50055004T>GCA426101675NRXN1c.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
2g.50055005C>ACA346820129NRXN1c.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
2g.50055005C=CA1249354467NRXN1c.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=)
2g.50055005C>GCA346820130NRXN1c.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)
2g.50055005C>TCA346820131NRXN1c.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
2g.50055006G>ACA346820132NRXN1c.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
2g.50055006G>CCA346820133NRXN1c.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)
2g.50055006G=CA1249354468NRXN1c.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=)
2g.50055006G>TCA426101679NRXN1c.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
2g.50055007C>ACA346820134NRXN1c.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
2g.50055007C>GCA346820135NRXN1c.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)
2g.50055007C>TCA426101682NRXN1c.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=)
2g.50055008T>ACA346820137NRXN1c.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)
2g.50055008T>CCA346820138NRXN1c.3755A>G (p.Gln1252Arg)
n.922A>G
c.606-1418A>G (n.606-1418A>G)
c.614-1418A>G (n.614-1418A>G)
c.650A>G (p.Gln217Arg)
c.3875A>G (p.Gln1292Arg)
c.3719A>G (p.Gln1240Arg)
c.3719-1418A>G (n.3719-1418A>G)
c.-119-1418A>G (n.-119-1418A>G)
c.3731A>G (p.Gln1244Arg)
n.564A>G
c.3776A>G (p.Gln1259Arg)
c.3740-1418A>G (n.3740-1418A>G)
c.3773A>G (p.Gln1258Arg)
c.3764A>G (p.Gln1255Arg)
c.3758A>G (p.Gln1253Arg)
c.3749A>G (p.Gln1250Arg)
c.3746A>G (p.Gln1249Arg)
c.3716A>G (p.Gln1239Arg)
c.3686A>G (p.Gln1229Arg)
c.3695-1418A>G (n.3695-1418A>G)
c.2981A>G (p.Gln994Arg)
c.2936A>G (p.Gln979Arg)
c.2909A>G (p.Gln970Arg)
c.2816A>G (p.Gln939Arg)
c.3653-1418A>G (n.3653-1418A>G)
c.3689A>G (p.Gln1230Arg)
c.3728A>G (p.Gln1243Arg)
c.3608-1418A>G (n.3608-1418A>G)
c.3638-1418A>G (n.3638-1418A>G)
c.3752A>G (p.Gln1251Arg)
c.3743A>G (p.Gln1248Arg)
c.3668-1418A>G (n.3668-1418A>G)
c.3803A>G (p.Gln1268Arg)
c.3800A>G (p.Gln1267Arg)
c.3791A>G (p.Gln1264Arg)
c.3785A>G (p.Gln1262Arg)
c.3782A>G (p.Gln1261Arg)
c.3740A>G (p.Gln1247Arg)
c.3767-1418A>G (n.3767-1418A>G)
c.3713-1418A>G (n.3713-1418A>G)
c.3701-1418A>G (n.3701-1418A>G)
c.2843A>G (p.Gln948Arg)
2g.50055008T>GCA346820136NRXN1c.3755A>C (p.Gln1252Pro)
n.922A>C
c.606-1418A>C (n.606-1418A>C)
c.614-1418A>C (n.614-1418A>C)
c.650A>C (p.Gln217Pro)
c.3875A>C (p.Gln1292Pro)
c.3719A>C (p.Gln1240Pro)
c.3719-1418A>C (n.3719-1418A>C)
c.-119-1418A>C (n.-119-1418A>C)
c.3731A>C (p.Gln1244Pro)
n.564A>C
c.3776A>C (p.Gln1259Pro)
c.3740-1418A>C (n.3740-1418A>C)
c.3773A>C (p.Gln1258Pro)
c.3764A>C (p.Gln1255Pro)
c.3758A>C (p.Gln1253Pro)
c.3749A>C (p.Gln1250Pro)
c.3746A>C (p.Gln1249Pro)
c.3716A>C (p.Gln1239Pro)
c.3686A>C (p.Gln1229Pro)
c.3695-1418A>C (n.3695-1418A>C)
c.2981A>C (p.Gln994Pro)
c.2936A>C (p.Gln979Pro)
c.2909A>C (p.Gln970Pro)
c.2816A>C (p.Gln939Pro)
c.3653-1418A>C (n.3653-1418A>C)
c.3689A>C (p.Gln1230Pro)
c.3728A>C (p.Gln1243Pro)
c.3608-1418A>C (n.3608-1418A>C)
c.3638-1418A>C (n.3638-1418A>C)
c.3752A>C (p.Gln1251Pro)
c.3743A>C (p.Gln1248Pro)
c.3668-1418A>C (n.3668-1418A>C)
c.3803A>C (p.Gln1268Pro)
c.3800A>C (p.Gln1267Pro)
c.3791A>C (p.Gln1264Pro)
c.3785A>C (p.Gln1262Pro)
c.3782A>C (p.Gln1261Pro)
c.3740A>C (p.Gln1247Pro)
c.3767-1418A>C (n.3767-1418A>C)
c.3713-1418A>C (n.3713-1418A>C)
c.3701-1418A>C (n.3701-1418A>C)
c.2843A>C (p.Gln948Pro)
dbSNP
2g.50055008T=CA1249354469NRXN1c.3755A= (p.Gln1252=)
n.922A=
c.606-1418A= (n.606-1418A=)
c.614-1418A= (n.614-1418A=)
c.650A= (p.Gln217=)
c.3875A= (p.Gln1292=)
c.3719A= (p.Gln1240=)
c.3719-1418A= (n.3719-1418A=)
c.-119-1418A= (n.-119-1418A=)
c.3731A= (p.Gln1244=)
n.564A=
c.3776A= (p.Gln1259=)
c.3740-1418A= (n.3740-1418A=)
c.3773A= (p.Gln1258=)
c.3764A= (p.Gln1255=)
c.3758A= (p.Gln1253=)
c.3749A= (p.Gln1250=)
c.3746A= (p.Gln1249=)
c.3716A= (p.Gln1239=)
c.3686A= (p.Gln1229=)
c.3695-1418A= (n.3695-1418A=)
c.2981A= (p.Gln994=)
c.2936A= (p.Gln979=)
c.2909A= (p.Gln970=)
c.2816A= (p.Gln939=)
c.3653-1418A= (n.3653-1418A=)
c.3689A= (p.Gln1230=)
c.3728A= (p.Gln1243=)
c.3608-1418A= (n.3608-1418A=)
c.3638-1418A= (n.3638-1418A=)
c.3752A= (p.Gln1251=)
c.3743A= (p.Gln1248=)
c.3668-1418A= (n.3668-1418A=)
c.3803A= (p.Gln1268=)
c.3800A= (p.Gln1267=)
c.3791A= (p.Gln1264=)
c.3785A= (p.Gln1262=)
c.3782A= (p.Gln1261=)
c.3740A= (p.Gln1247=)
c.3767-1418A= (n.3767-1418A=)
c.3713-1418A= (n.3713-1418A=)
c.3701-1418A= (n.3701-1418A=)
c.2843A= (p.Gln948=)
2g.50055009G>ACA346820141NRXN1c.3754C>T (p.Gln1252Ter)
n.921C>T
c.606-1419C>T (n.606-1419C>T)
c.614-1419C>T (n.614-1419C>T)
c.649C>T (p.Gln217Ter)
c.3874C>T (p.Gln1292Ter)
c.3718C>T (p.Gln1240Ter)
c.3719-1419C>T (n.3719-1419C>T)
c.-119-1419C>T (n.-119-1419C>T)
c.3730C>T (p.Gln1244Ter)
n.563C>T
c.3775C>T (p.Gln1259Ter)
c.3740-1419C>T (n.3740-1419C>T)
c.3772C>T (p.Gln1258Ter)
c.3763C>T (p.Gln1255Ter)
c.3757C>T (p.Gln1253Ter)
c.3748C>T (p.Gln1250Ter)
c.3745C>T (p.Gln1249Ter)
c.3715C>T (p.Gln1239Ter)
c.3685C>T (p.Gln1229Ter)
c.3695-1419C>T (n.3695-1419C>T)
c.2980C>T (p.Gln994Ter)
c.2935C>T (p.Gln979Ter)
c.2908C>T (p.Gln970Ter)
c.2815C>T (p.Gln939Ter)
c.3653-1419C>T (n.3653-1419C>T)
c.3688C>T (p.Gln1230Ter)
c.3727C>T (p.Gln1243Ter)
c.3608-1419C>T (n.3608-1419C>T)
c.3638-1419C>T (n.3638-1419C>T)
c.3751C>T (p.Gln1251Ter)
c.3742C>T (p.Gln1248Ter)
c.3668-1419C>T (n.3668-1419C>T)
c.3802C>T (p.Gln1268Ter)
c.3799C>T (p.Gln1267Ter)
c.3790C>T (p.Gln1264Ter)
c.3784C>T (p.Gln1262Ter)
c.3781C>T (p.Gln1261Ter)
c.3739C>T (p.Gln1247Ter)
c.3767-1419C>T (n.3767-1419C>T)
c.3713-1419C>T (n.3713-1419C>T)
c.3701-1419C>T (n.3701-1419C>T)
c.2842C>T (p.Gln948Ter)
gnomAD v4
2g.50055009G>CCA346820139NRXN1c.3754C>G (p.Gln1252Glu)
n.921C>G
c.606-1419C>G (n.606-1419C>G)
c.614-1419C>G (n.614-1419C>G)
c.649C>G (p.Gln217Glu)
c.3874C>G (p.Gln1292Glu)
c.3718C>G (p.Gln1240Glu)
c.3719-1419C>G (n.3719-1419C>G)
c.-119-1419C>G (n.-119-1419C>G)
c.3730C>G (p.Gln1244Glu)
n.563C>G
c.3775C>G (p.Gln1259Glu)
c.3740-1419C>G (n.3740-1419C>G)
c.3772C>G (p.Gln1258Glu)
c.3763C>G (p.Gln1255Glu)
c.3757C>G (p.Gln1253Glu)
c.3748C>G (p.Gln1250Glu)
c.3745C>G (p.Gln1249Glu)
c.3715C>G (p.Gln1239Glu)
c.3685C>G (p.Gln1229Glu)
c.3695-1419C>G (n.3695-1419C>G)
c.2980C>G (p.Gln994Glu)
c.2935C>G (p.Gln979Glu)
c.2908C>G (p.Gln970Glu)
c.2815C>G (p.Gln939Glu)
c.3653-1419C>G (n.3653-1419C>G)
c.3688C>G (p.Gln1230Glu)
c.3727C>G (p.Gln1243Glu)
c.3608-1419C>G (n.3608-1419C>G)
c.3638-1419C>G (n.3638-1419C>G)
c.3751C>G (p.Gln1251Glu)
c.3742C>G (p.Gln1248Glu)
c.3668-1419C>G (n.3668-1419C>G)
c.3802C>G (p.Gln1268Glu)
c.3799C>G (p.Gln1267Glu)
c.3790C>G (p.Gln1264Glu)
c.3784C>G (p.Gln1262Glu)
c.3781C>G (p.Gln1261Glu)
c.3739C>G (p.Gln1247Glu)
c.3767-1419C>G (n.3767-1419C>G)
c.3713-1419C>G (n.3713-1419C>G)
c.3701-1419C>G (n.3701-1419C>G)
c.2842C>G (p.Gln948Glu)
2g.50055009G>TCA346820140NRXN1c.3754C>A (p.Gln1252Lys)
n.921C>A
c.606-1419C>A (n.606-1419C>A)
c.614-1419C>A (n.614-1419C>A)
c.649C>A (p.Gln217Lys)
c.3874C>A (p.Gln1292Lys)
c.3718C>A (p.Gln1240Lys)
c.3719-1419C>A (n.3719-1419C>A)
c.-119-1419C>A (n.-119-1419C>A)
c.3730C>A (p.Gln1244Lys)
n.563C>A
c.3775C>A (p.Gln1259Lys)
c.3740-1419C>A (n.3740-1419C>A)
c.3772C>A (p.Gln1258Lys)
c.3763C>A (p.Gln1255Lys)
c.3757C>A (p.Gln1253Lys)
c.3748C>A (p.Gln1250Lys)
c.3745C>A (p.Gln1249Lys)
c.3715C>A (p.Gln1239Lys)
c.3685C>A (p.Gln1229Lys)
c.3695-1419C>A (n.3695-1419C>A)
c.2980C>A (p.Gln994Lys)
c.2935C>A (p.Gln979Lys)
c.2908C>A (p.Gln970Lys)
c.2815C>A (p.Gln939Lys)
c.3653-1419C>A (n.3653-1419C>A)
c.3688C>A (p.Gln1230Lys)
c.3727C>A (p.Gln1243Lys)
c.3608-1419C>A (n.3608-1419C>A)
c.3638-1419C>A (n.3638-1419C>A)
c.3751C>A (p.Gln1251Lys)
c.3742C>A (p.Gln1248Lys)
c.3668-1419C>A (n.3668-1419C>A)
c.3802C>A (p.Gln1268Lys)
c.3799C>A (p.Gln1267Lys)
c.3790C>A (p.Gln1264Lys)
c.3784C>A (p.Gln1262Lys)
c.3781C>A (p.Gln1261Lys)
c.3739C>A (p.Gln1247Lys)
c.3767-1419C>A (n.3767-1419C>A)
c.3713-1419C>A (n.3713-1419C>A)
c.3701-1419C>A (n.3701-1419C>A)
c.2842C>A (p.Gln948Lys)
gnomAD v4
2g.50055010T>ACA346820142NRXN1c.3753A>T (p.Arg1251Ser)
n.920A>T
c.606-1420A>T (n.606-1420A>T)
c.614-1420A>T (n.614-1420A>T)
c.648A>T (p.Arg216Ser)
c.3873A>T (p.Arg1291Ser)
c.3717A>T (p.Arg1239Ser)
c.3719-1420A>T (n.3719-1420A>T)
c.-119-1420A>T (n.-119-1420A>T)
c.3729A>T (p.Arg1243Ser)
n.562A>T
c.3774A>T (p.Arg1258Ser)
c.3740-1420A>T (n.3740-1420A>T)
c.3771A>T (p.Arg1257Ser)
c.3762A>T (p.Arg1254Ser)
c.3756A>T (p.Arg1252Ser)
c.3747A>T (p.Arg1249Ser)
c.3744A>T (p.Arg1248Ser)
c.3714A>T (p.Arg1238Ser)
c.3684A>T (p.Arg1228Ser)
c.3695-1420A>T (n.3695-1420A>T)
c.2979A>T (p.Arg993Ser)
c.2934A>T (p.Arg978Ser)
c.2907A>T (p.Arg969Ser)
c.2814A>T (p.Arg938Ser)
c.3653-1420A>T (n.3653-1420A>T)
c.3687A>T (p.Arg1229Ser)
c.3726A>T (p.Arg1242Ser)
c.3608-1420A>T (n.3608-1420A>T)
c.3638-1420A>T (n.3638-1420A>T)
c.3750A>T (p.Arg1250Ser)
c.3741A>T (p.Arg1247Ser)
c.3668-1420A>T (n.3668-1420A>T)
c.3801A>T (p.Arg1267Ser)
c.3798A>T (p.Arg1266Ser)
c.3789A>T (p.Arg1263Ser)
c.3783A>T (p.Arg1261Ser)
c.3780A>T (p.Arg1260Ser)
c.3738A>T (p.Arg1246Ser)
c.3767-1420A>T (n.3767-1420A>T)
c.3713-1420A>T (n.3713-1420A>T)
c.3701-1420A>T (n.3701-1420A>T)
c.2841A>T (p.Arg947Ser)
2g.50055010T>CCA426101686NRXN1c.3753A>G (p.Arg1251=)
n.920A>G
c.606-1420A>G (n.606-1420A>G)
c.614-1420A>G (n.614-1420A>G)
c.648A>G (p.Arg216=)
c.3873A>G (p.Arg1291=)
c.3717A>G (p.Arg1239=)
c.3719-1420A>G (n.3719-1420A>G)
c.-119-1420A>G (n.-119-1420A>G)
c.3729A>G (p.Arg1243=)
n.562A>G
c.3774A>G (p.Arg1258=)
c.3740-1420A>G (n.3740-1420A>G)
c.3771A>G (p.Arg1257=)
c.3762A>G (p.Arg1254=)
c.3756A>G (p.Arg1252=)
c.3747A>G (p.Arg1249=)
c.3744A>G (p.Arg1248=)
c.3714A>G (p.Arg1238=)
c.3684A>G (p.Arg1228=)
c.3695-1420A>G (n.3695-1420A>G)
c.2979A>G (p.Arg993=)
c.2934A>G (p.Arg978=)
c.2907A>G (p.Arg969=)
c.2814A>G (p.Arg938=)
c.3653-1420A>G (n.3653-1420A>G)
c.3687A>G (p.Arg1229=)
c.3726A>G (p.Arg1242=)
c.3608-1420A>G (n.3608-1420A>G)
c.3638-1420A>G (n.3638-1420A>G)
c.3750A>G (p.Arg1250=)
c.3741A>G (p.Arg1247=)
c.3668-1420A>G (n.3668-1420A>G)
c.3801A>G (p.Arg1267=)
c.3798A>G (p.Arg1266=)
c.3789A>G (p.Arg1263=)
c.3783A>G (p.Arg1261=)
c.3780A>G (p.Arg1260=)
c.3738A>G (p.Arg1246=)
c.3767-1420A>G (n.3767-1420A>G)
c.3713-1420A>G (n.3713-1420A>G)
c.3701-1420A>G (n.3701-1420A>G)
c.2841A>G (p.Arg947=)
gnomAD v4
2g.50055010T>GCA346820143NRXN1c.3753A>C (p.Arg1251Ser)
n.920A>C
c.606-1420A>C (n.606-1420A>C)
c.614-1420A>C (n.614-1420A>C)
c.648A>C (p.Arg216Ser)
c.3873A>C (p.Arg1291Ser)
c.3717A>C (p.Arg1239Ser)
c.3719-1420A>C (n.3719-1420A>C)
c.-119-1420A>C (n.-119-1420A>C)
c.3729A>C (p.Arg1243Ser)
n.562A>C
c.3774A>C (p.Arg1258Ser)
c.3740-1420A>C (n.3740-1420A>C)
c.3771A>C (p.Arg1257Ser)
c.3762A>C (p.Arg1254Ser)
c.3756A>C (p.Arg1252Ser)
c.3747A>C (p.Arg1249Ser)
c.3744A>C (p.Arg1248Ser)
c.3714A>C (p.Arg1238Ser)
c.3684A>C (p.Arg1228Ser)
c.3695-1420A>C (n.3695-1420A>C)
c.2979A>C (p.Arg993Ser)
c.2934A>C (p.Arg978Ser)
c.2907A>C (p.Arg969Ser)
c.2814A>C (p.Arg938Ser)
c.3653-1420A>C (n.3653-1420A>C)
c.3687A>C (p.Arg1229Ser)
c.3726A>C (p.Arg1242Ser)
c.3608-1420A>C (n.3608-1420A>C)
c.3638-1420A>C (n.3638-1420A>C)
c.3750A>C (p.Arg1250Ser)
c.3741A>C (p.Arg1247Ser)
c.3668-1420A>C (n.3668-1420A>C)
c.3801A>C (p.Arg1267Ser)
c.3798A>C (p.Arg1266Ser)
c.3789A>C (p.Arg1263Ser)
c.3783A>C (p.Arg1261Ser)
c.3780A>C (p.Arg1260Ser)
c.3738A>C (p.Arg1246Ser)
c.3767-1420A>C (n.3767-1420A>C)
c.3713-1420A>C (n.3713-1420A>C)
c.3701-1420A>C (n.3701-1420A>C)
c.2841A>C (p.Arg947Ser)
2g.50055011C>ACA346820144NRXN1c.3752G>T (p.Arg1251Ile)
n.919G>T
c.606-1421G>T (n.606-1421G>T)
c.614-1421G>T (n.614-1421G>T)
c.647G>T (p.Arg216Ile)
c.3872G>T (p.Arg1291Ile)
c.3716G>T (p.Arg1239Ile)
c.3719-1421G>T (n.3719-1421G>T)
c.-119-1421G>T (n.-119-1421G>T)
c.3728G>T (p.Arg1243Ile)
n.561G>T
c.3773G>T (p.Arg1258Ile)
c.3740-1421G>T (n.3740-1421G>T)
c.3770G>T (p.Arg1257Ile)
c.3761G>T (p.Arg1254Ile)
c.3755G>T (p.Arg1252Ile)
c.3746G>T (p.Arg1249Ile)
c.3743G>T (p.Arg1248Ile)
c.3713G>T (p.Arg1238Ile)
c.3683G>T (p.Arg1228Ile)
c.3695-1421G>T (n.3695-1421G>T)
c.2978G>T (p.Arg993Ile)
c.2933G>T (p.Arg978Ile)
c.2906G>T (p.Arg969Ile)
c.2813G>T (p.Arg938Ile)
c.3653-1421G>T (n.3653-1421G>T)
c.3686G>T (p.Arg1229Ile)
c.3725G>T (p.Arg1242Ile)
c.3608-1421G>T (n.3608-1421G>T)
c.3638-1421G>T (n.3638-1421G>T)
c.3749G>T (p.Arg1250Ile)
c.3740G>T (p.Arg1247Ile)
c.3668-1421G>T (n.3668-1421G>T)
c.3800G>T (p.Arg1267Ile)
c.3797G>T (p.Arg1266Ile)
c.3788G>T (p.Arg1263Ile)
c.3782G>T (p.Arg1261Ile)
c.3779G>T (p.Arg1260Ile)
c.3737G>T (p.Arg1246Ile)
c.3767-1421G>T (n.3767-1421G>T)
c.3713-1421G>T (n.3713-1421G>T)
c.3701-1421G>T (n.3701-1421G>T)
c.2840G>T (p.Arg947Ile)
gnomAD v4
2g.50055011C>GCA346820145NRXN1c.3752G>C (p.Arg1251Thr)
n.919G>C
c.606-1421G>C (n.606-1421G>C)
c.614-1421G>C (n.614-1421G>C)
c.647G>C (p.Arg216Thr)
c.3872G>C (p.Arg1291Thr)
c.3716G>C (p.Arg1239Thr)
c.3719-1421G>C (n.3719-1421G>C)
c.-119-1421G>C (n.-119-1421G>C)
c.3728G>C (p.Arg1243Thr)
n.561G>C
c.3773G>C (p.Arg1258Thr)
c.3740-1421G>C (n.3740-1421G>C)
c.3770G>C (p.Arg1257Thr)
c.3761G>C (p.Arg1254Thr)
c.3755G>C (p.Arg1252Thr)
c.3746G>C (p.Arg1249Thr)
c.3743G>C (p.Arg1248Thr)
c.3713G>C (p.Arg1238Thr)
c.3683G>C (p.Arg1228Thr)
c.3695-1421G>C (n.3695-1421G>C)
c.2978G>C (p.Arg993Thr)
c.2933G>C (p.Arg978Thr)
c.2906G>C (p.Arg969Thr)
c.2813G>C (p.Arg938Thr)
c.3653-1421G>C (n.3653-1421G>C)
c.3686G>C (p.Arg1229Thr)
c.3725G>C (p.Arg1242Thr)
c.3608-1421G>C (n.3608-1421G>C)
c.3638-1421G>C (n.3638-1421G>C)
c.3749G>C (p.Arg1250Thr)
c.3740G>C (p.Arg1247Thr)
c.3668-1421G>C (n.3668-1421G>C)
c.3800G>C (p.Arg1267Thr)
c.3797G>C (p.Arg1266Thr)
c.3788G>C (p.Arg1263Thr)
c.3782G>C (p.Arg1261Thr)
c.3779G>C (p.Arg1260Thr)
c.3737G>C (p.Arg1246Thr)
c.3767-1421G>C (n.3767-1421G>C)
c.3713-1421G>C (n.3713-1421G>C)
c.3701-1421G>C (n.3701-1421G>C)
c.2840G>C (p.Arg947Thr)
ClinVar
2g.50055011C>TCA346820146NRXN1c.3752G>A (p.Arg1251Lys)
n.919G>A
c.606-1421G>A (n.606-1421G>A)
c.614-1421G>A (n.614-1421G>A)
c.647G>A (p.Arg216Lys)
c.3872G>A (p.Arg1291Lys)
c.3716G>A (p.Arg1239Lys)
c.3719-1421G>A (n.3719-1421G>A)
c.-119-1421G>A (n.-119-1421G>A)
c.3728G>A (p.Arg1243Lys)
n.561G>A
c.3773G>A (p.Arg1258Lys)
c.3740-1421G>A (n.3740-1421G>A)
c.3770G>A (p.Arg1257Lys)
c.3761G>A (p.Arg1254Lys)
c.3755G>A (p.Arg1252Lys)
c.3746G>A (p.Arg1249Lys)
c.3743G>A (p.Arg1248Lys)
c.3713G>A (p.Arg1238Lys)
c.3683G>A (p.Arg1228Lys)
c.3695-1421G>A (n.3695-1421G>A)
c.2978G>A (p.Arg993Lys)
c.2933G>A (p.Arg978Lys)
c.2906G>A (p.Arg969Lys)
c.2813G>A (p.Arg938Lys)
c.3653-1421G>A (n.3653-1421G>A)
c.3686G>A (p.Arg1229Lys)
c.3725G>A (p.Arg1242Lys)
c.3608-1421G>A (n.3608-1421G>A)
c.3638-1421G>A (n.3638-1421G>A)
c.3749G>A (p.Arg1250Lys)
c.3740G>A (p.Arg1247Lys)
c.3668-1421G>A (n.3668-1421G>A)
c.3800G>A (p.Arg1267Lys)
c.3797G>A (p.Arg1266Lys)
c.3788G>A (p.Arg1263Lys)
c.3782G>A (p.Arg1261Lys)
c.3779G>A (p.Arg1260Lys)
c.3737G>A (p.Arg1246Lys)
c.3767-1421G>A (n.3767-1421G>A)
c.3713-1421G>A (n.3713-1421G>A)
c.3701-1421G>A (n.3701-1421G>A)
c.2840G>A (p.Arg947Lys)
2g.50055012T>ACA346820147NRXN1c.3751A>T (p.Arg1251Ter)
n.918A>T
c.606-1422A>T (n.606-1422A>T)
c.614-1422A>T (n.614-1422A>T)
c.646A>T (p.Arg216Ter)
c.3871A>T (p.Arg1291Ter)
c.3715A>T (p.Arg1239Ter)
c.3719-1422A>T (n.3719-1422A>T)
c.-119-1422A>T (n.-119-1422A>T)
c.3727A>T (p.Arg1243Ter)
n.560A>T
c.3772A>T (p.Arg1258Ter)
c.3740-1422A>T (n.3740-1422A>T)
c.3769A>T (p.Arg1257Ter)
c.3760A>T (p.Arg1254Ter)
c.3754A>T (p.Arg1252Ter)
c.3745A>T (p.Arg1249Ter)
c.3742A>T (p.Arg1248Ter)
c.3712A>T (p.Arg1238Ter)
c.3682A>T (p.Arg1228Ter)
c.3695-1422A>T (n.3695-1422A>T)
c.2977A>T (p.Arg993Ter)
c.2932A>T (p.Arg978Ter)
c.2905A>T (p.Arg969Ter)
c.2812A>T (p.Arg938Ter)
c.3653-1422A>T (n.3653-1422A>T)
c.3685A>T (p.Arg1229Ter)
c.3724A>T (p.Arg1242Ter)
c.3608-1422A>T (n.3608-1422A>T)
c.3638-1422A>T (n.3638-1422A>T)
c.3748A>T (p.Arg1250Ter)
c.3739A>T (p.Arg1247Ter)
c.3668-1422A>T (n.3668-1422A>T)
c.3799A>T (p.Arg1267Ter)
c.3796A>T (p.Arg1266Ter)
c.3787A>T (p.Arg1263Ter)
c.3781A>T (p.Arg1261Ter)
c.3778A>T (p.Arg1260Ter)
c.3736A>T (p.Arg1246Ter)
c.3767-1422A>T (n.3767-1422A>T)
c.3713-1422A>T (n.3713-1422A>T)
c.3701-1422A>T (n.3701-1422A>T)
c.2839A>T (p.Arg947Ter)
2g.50055012T>CCA346820148NRXN1c.3751A>G (p.Arg1251Gly)
n.918A>G
c.606-1422A>G (n.606-1422A>G)
c.614-1422A>G (n.614-1422A>G)
c.646A>G (p.Arg216Gly)
c.3871A>G (p.Arg1291Gly)
c.3715A>G (p.Arg1239Gly)
c.3719-1422A>G (n.3719-1422A>G)
c.-119-1422A>G (n.-119-1422A>G)
c.3727A>G (p.Arg1243Gly)
n.560A>G
c.3772A>G (p.Arg1258Gly)
c.3740-1422A>G (n.3740-1422A>G)
c.3769A>G (p.Arg1257Gly)
c.3760A>G (p.Arg1254Gly)
c.3754A>G (p.Arg1252Gly)
c.3745A>G (p.Arg1249Gly)
c.3742A>G (p.Arg1248Gly)
c.3712A>G (p.Arg1238Gly)
c.3682A>G (p.Arg1228Gly)
c.3695-1422A>G (n.3695-1422A>G)
c.2977A>G (p.Arg993Gly)
c.2932A>G (p.Arg978Gly)
c.2905A>G (p.Arg969Gly)
c.2812A>G (p.Arg938Gly)
c.3653-1422A>G (n.3653-1422A>G)
c.3685A>G (p.Arg1229Gly)
c.3724A>G (p.Arg1242Gly)
c.3608-1422A>G (n.3608-1422A>G)
c.3638-1422A>G (n.3638-1422A>G)
c.3748A>G (p.Arg1250Gly)
c.3739A>G (p.Arg1247Gly)
c.3668-1422A>G (n.3668-1422A>G)
c.3799A>G (p.Arg1267Gly)
c.3796A>G (p.Arg1266Gly)
c.3787A>G (p.Arg1263Gly)
c.3781A>G (p.Arg1261Gly)
c.3778A>G (p.Arg1260Gly)
c.3736A>G (p.Arg1246Gly)
c.3767-1422A>G (n.3767-1422A>G)
c.3713-1422A>G (n.3713-1422A>G)
c.3701-1422A>G (n.3701-1422A>G)
c.2839A>G (p.Arg947Gly)
2g.50055012T>GCA426101689NRXN1c.3751A>C (p.Arg1251=)
n.918A>C
c.606-1422A>C (n.606-1422A>C)
c.614-1422A>C (n.614-1422A>C)
c.646A>C (p.Arg216=)
c.3871A>C (p.Arg1291=)
c.3715A>C (p.Arg1239=)
c.3719-1422A>C (n.3719-1422A>C)
c.-119-1422A>C (n.-119-1422A>C)
c.3727A>C (p.Arg1243=)
n.560A>C
c.3772A>C (p.Arg1258=)
c.3740-1422A>C (n.3740-1422A>C)
c.3769A>C (p.Arg1257=)
c.3760A>C (p.Arg1254=)
c.3754A>C (p.Arg1252=)
c.3745A>C (p.Arg1249=)
c.3742A>C (p.Arg1248=)
c.3712A>C (p.Arg1238=)
c.3682A>C (p.Arg1228=)
c.3695-1422A>C (n.3695-1422A>C)
c.2977A>C (p.Arg993=)
c.2932A>C (p.Arg978=)
c.2905A>C (p.Arg969=)
c.2812A>C (p.Arg938=)
c.3653-1422A>C (n.3653-1422A>C)
c.3685A>C (p.Arg1229=)
c.3724A>C (p.Arg1242=)
c.3608-1422A>C (n.3608-1422A>C)
c.3638-1422A>C (n.3638-1422A>C)
c.3748A>C (p.Arg1250=)
c.3739A>C (p.Arg1247=)
c.3668-1422A>C (n.3668-1422A>C)
c.3799A>C (p.Arg1267=)
c.3796A>C (p.Arg1266=)
c.3787A>C (p.Arg1263=)
c.3781A>C (p.Arg1261=)
c.3778A>C (p.Arg1260=)
c.3736A>C (p.Arg1246=)
c.3767-1422A>C (n.3767-1422A>C)
c.3713-1422A>C (n.3713-1422A>C)
c.3701-1422A>C (n.3701-1422A>C)
c.2839A>C (p.Arg947=)
2g.50055013A>CCA426101690NRXN1c.3750T>G (p.Ala1250=)
n.917T>G
c.606-1423T>G (n.606-1423T>G)
c.614-1423T>G (n.614-1423T>G)
c.645T>G (p.Ala215=)
c.3870T>G (p.Ala1290=)
c.3714T>G (p.Ala1238=)
c.3719-1423T>G (n.3719-1423T>G)
c.-119-1423T>G (n.-119-1423T>G)
c.3726T>G (p.Ala1242=)
n.559T>G
c.3771T>G (p.Ala1257=)
c.3740-1423T>G (n.3740-1423T>G)
c.3768T>G (p.Ala1256=)
c.3759T>G (p.Ala1253=)
c.3753T>G (p.Ala1251=)
c.3744T>G (p.Ala1248=)
c.3741T>G (p.Ala1247=)
c.3711T>G (p.Ala1237=)
c.3681T>G (p.Ala1227=)
c.3695-1423T>G (n.3695-1423T>G)
c.2976T>G (p.Ala992=)
c.2931T>G (p.Ala977=)
c.2904T>G (p.Ala968=)
c.2811T>G (p.Ala937=)
c.3653-1423T>G (n.3653-1423T>G)
c.3684T>G (p.Ala1228=)
c.3723T>G (p.Ala1241=)
c.3608-1423T>G (n.3608-1423T>G)
c.3638-1423T>G (n.3638-1423T>G)
c.3747T>G (p.Ala1249=)
c.3738T>G (p.Ala1246=)
c.3668-1423T>G (n.3668-1423T>G)
c.3798T>G (p.Ala1266=)
c.3795T>G (p.Ala1265=)
c.3786T>G (p.Ala1262=)
c.3780T>G (p.Ala1260=)
c.3777T>G (p.Ala1259=)
c.3735T>G (p.Ala1245=)
c.3767-1423T>G (n.3767-1423T>G)
c.3713-1423T>G (n.3713-1423T>G)
c.3701-1423T>G (n.3701-1423T>G)
c.2838T>G (p.Ala946=)
2g.50055013A>GCA426101691NRXN1c.3750T>C (p.Ala1250=)
n.917T>C
c.606-1423T>C (n.606-1423T>C)
c.614-1423T>C (n.614-1423T>C)
c.645T>C (p.Ala215=)
c.3870T>C (p.Ala1290=)
c.3714T>C (p.Ala1238=)
c.3719-1423T>C (n.3719-1423T>C)
c.-119-1423T>C (n.-119-1423T>C)
c.3726T>C (p.Ala1242=)
n.559T>C
c.3771T>C (p.Ala1257=)
c.3740-1423T>C (n.3740-1423T>C)
c.3768T>C (p.Ala1256=)
c.3759T>C (p.Ala1253=)
c.3753T>C (p.Ala1251=)
c.3744T>C (p.Ala1248=)
c.3741T>C (p.Ala1247=)
c.3711T>C (p.Ala1237=)
c.3681T>C (p.Ala1227=)
c.3695-1423T>C (n.3695-1423T>C)
c.2976T>C (p.Ala992=)
c.2931T>C (p.Ala977=)
c.2904T>C (p.Ala968=)
c.2811T>C (p.Ala937=)
c.3653-1423T>C (n.3653-1423T>C)
c.3684T>C (p.Ala1228=)
c.3723T>C (p.Ala1241=)
c.3608-1423T>C (n.3608-1423T>C)
c.3638-1423T>C (n.3638-1423T>C)
c.3747T>C (p.Ala1249=)
c.3738T>C (p.Ala1246=)
c.3668-1423T>C (n.3668-1423T>C)
c.3798T>C (p.Ala1266=)
c.3795T>C (p.Ala1265=)
c.3786T>C (p.Ala1262=)
c.3780T>C (p.Ala1260=)
c.3777T>C (p.Ala1259=)
c.3735T>C (p.Ala1245=)
c.3767-1423T>C (n.3767-1423T>C)
c.3713-1423T>C (n.3713-1423T>C)
c.3701-1423T>C (n.3701-1423T>C)
c.2838T>C (p.Ala946=)
2g.50055013A>TCA426101692NRXN1c.3750T>A (p.Ala1250=)
n.917T>A
c.606-1423T>A (n.606-1423T>A)
c.614-1423T>A (n.614-1423T>A)
c.645T>A (p.Ala215=)
c.3870T>A (p.Ala1290=)
c.3714T>A (p.Ala1238=)
c.3719-1423T>A (n.3719-1423T>A)
c.-119-1423T>A (n.-119-1423T>A)
c.3726T>A (p.Ala1242=)
n.559T>A
c.3771T>A (p.Ala1257=)
c.3740-1423T>A (n.3740-1423T>A)
c.3768T>A (p.Ala1256=)
c.3759T>A (p.Ala1253=)
c.3753T>A (p.Ala1251=)
c.3744T>A (p.Ala1248=)
c.3741T>A (p.Ala1247=)
c.3711T>A (p.Ala1237=)
c.3681T>A (p.Ala1227=)
c.3695-1423T>A (n.3695-1423T>A)
c.2976T>A (p.Ala992=)
c.2931T>A (p.Ala977=)
c.2904T>A (p.Ala968=)
c.2811T>A (p.Ala937=)
c.3653-1423T>A (n.3653-1423T>A)
c.3684T>A (p.Ala1228=)
c.3723T>A (p.Ala1241=)
c.3608-1423T>A (n.3608-1423T>A)
c.3638-1423T>A (n.3638-1423T>A)
c.3747T>A (p.Ala1249=)
c.3738T>A (p.Ala1246=)
c.3668-1423T>A (n.3668-1423T>A)
c.3798T>A (p.Ala1266=)
c.3795T>A (p.Ala1265=)
c.3786T>A (p.Ala1262=)
c.3780T>A (p.Ala1260=)
c.3777T>A (p.Ala1259=)
c.3735T>A (p.Ala1245=)
c.3767-1423T>A (n.3767-1423T>A)
c.3713-1423T>A (n.3713-1423T>A)
c.3701-1423T>A (n.3701-1423T>A)
c.2838T>A (p.Ala946=)
2g.50055014G>ACA346820149NRXN1c.3749C>T (p.Ala1250Val)
n.916C>T
c.606-1424C>T (n.606-1424C>T)
c.614-1424C>T (n.614-1424C>T)
c.644C>T (p.Ala215Val)
c.3869C>T (p.Ala1290Val)
c.3713C>T (p.Ala1238Val)
c.3719-1424C>T (n.3719-1424C>T)
c.-119-1424C>T (n.-119-1424C>T)
c.3725C>T (p.Ala1242Val)
n.558C>T
c.3770C>T (p.Ala1257Val)
c.3740-1424C>T (n.3740-1424C>T)
c.3767C>T (p.Ala1256Val)
c.3758C>T (p.Ala1253Val)
c.3752C>T (p.Ala1251Val)
c.3743C>T (p.Ala1248Val)
c.3740C>T (p.Ala1247Val)
c.3710C>T (p.Ala1237Val)
c.3680C>T (p.Ala1227Val)
c.3695-1424C>T (n.3695-1424C>T)
c.2975C>T (p.Ala992Val)
c.2930C>T (p.Ala977Val)
c.2903C>T (p.Ala968Val)
c.2810C>T (p.Ala937Val)
c.3653-1424C>T (n.3653-1424C>T)
c.3683C>T (p.Ala1228Val)
c.3722C>T (p.Ala1241Val)
c.3608-1424C>T (n.3608-1424C>T)
c.3638-1424C>T (n.3638-1424C>T)
c.3746C>T (p.Ala1249Val)
c.3737C>T (p.Ala1246Val)
c.3668-1424C>T (n.3668-1424C>T)
c.3797C>T (p.Ala1266Val)
c.3794C>T (p.Ala1265Val)
c.3785C>T (p.Ala1262Val)
c.3779C>T (p.Ala1260Val)
c.3776C>T (p.Ala1259Val)
c.3734C>T (p.Ala1245Val)
c.3767-1424C>T (n.3767-1424C>T)
c.3713-1424C>T (n.3713-1424C>T)
c.3701-1424C>T (n.3701-1424C>T)
c.2837C>T (p.Ala946Val)
gnomAD v4
2g.50055014G>CCA346820150NRXN1c.3749C>G (p.Ala1250Gly)
n.916C>G
c.606-1424C>G (n.606-1424C>G)
c.614-1424C>G (n.614-1424C>G)
c.644C>G (p.Ala215Gly)
c.3869C>G (p.Ala1290Gly)
c.3713C>G (p.Ala1238Gly)
c.3719-1424C>G (n.3719-1424C>G)
c.-119-1424C>G (n.-119-1424C>G)
c.3725C>G (p.Ala1242Gly)
n.558C>G
c.3770C>G (p.Ala1257Gly)
c.3740-1424C>G (n.3740-1424C>G)
c.3767C>G (p.Ala1256Gly)
c.3758C>G (p.Ala1253Gly)
c.3752C>G (p.Ala1251Gly)
c.3743C>G (p.Ala1248Gly)
c.3740C>G (p.Ala1247Gly)
c.3710C>G (p.Ala1237Gly)
c.3680C>G (p.Ala1227Gly)
c.3695-1424C>G (n.3695-1424C>G)
c.2975C>G (p.Ala992Gly)
c.2930C>G (p.Ala977Gly)
c.2903C>G (p.Ala968Gly)
c.2810C>G (p.Ala937Gly)
c.3653-1424C>G (n.3653-1424C>G)
c.3683C>G (p.Ala1228Gly)
c.3722C>G (p.Ala1241Gly)
c.3608-1424C>G (n.3608-1424C>G)
c.3638-1424C>G (n.3638-1424C>G)
c.3746C>G (p.Ala1249Gly)
c.3737C>G (p.Ala1246Gly)
c.3668-1424C>G (n.3668-1424C>G)
c.3797C>G (p.Ala1266Gly)
c.3794C>G (p.Ala1265Gly)
c.3785C>G (p.Ala1262Gly)
c.3779C>G (p.Ala1260Gly)
c.3776C>G (p.Ala1259Gly)
c.3734C>G (p.Ala1245Gly)
c.3767-1424C>G (n.3767-1424C>G)
c.3713-1424C>G (n.3713-1424C>G)
c.3701-1424C>G (n.3701-1424C>G)
c.2837C>G (p.Ala946Gly)
2g.50055014G>TCA346820151NRXN1c.3749C>A (p.Ala1250Asp)
n.916C>A
c.606-1424C>A (n.606-1424C>A)
c.614-1424C>A (n.614-1424C>A)
c.644C>A (p.Ala215Asp)
c.3869C>A (p.Ala1290Asp)
c.3713C>A (p.Ala1238Asp)
c.3719-1424C>A (n.3719-1424C>A)
c.-119-1424C>A (n.-119-1424C>A)
c.3725C>A (p.Ala1242Asp)
n.558C>A
c.3770C>A (p.Ala1257Asp)
c.3740-1424C>A (n.3740-1424C>A)
c.3767C>A (p.Ala1256Asp)
c.3758C>A (p.Ala1253Asp)
c.3752C>A (p.Ala1251Asp)
c.3743C>A (p.Ala1248Asp)
c.3740C>A (p.Ala1247Asp)
c.3710C>A (p.Ala1237Asp)
c.3680C>A (p.Ala1227Asp)
c.3695-1424C>A (n.3695-1424C>A)
c.2975C>A (p.Ala992Asp)
c.2930C>A (p.Ala977Asp)
c.2903C>A (p.Ala968Asp)
c.2810C>A (p.Ala937Asp)
c.3653-1424C>A (n.3653-1424C>A)
c.3683C>A (p.Ala1228Asp)
c.3722C>A (p.Ala1241Asp)
c.3608-1424C>A (n.3608-1424C>A)
c.3638-1424C>A (n.3638-1424C>A)
c.3746C>A (p.Ala1249Asp)
c.3737C>A (p.Ala1246Asp)
c.3668-1424C>A (n.3668-1424C>A)
c.3797C>A (p.Ala1266Asp)
c.3794C>A (p.Ala1265Asp)
c.3785C>A (p.Ala1262Asp)
c.3779C>A (p.Ala1260Asp)
c.3776C>A (p.Ala1259Asp)
c.3734C>A (p.Ala1245Asp)
c.3767-1424C>A (n.3767-1424C>A)
c.3713-1424C>A (n.3713-1424C>A)
c.3701-1424C>A (n.3701-1424C>A)
c.2837C>A (p.Ala946Asp)
gnomAD v4
2g.50055015C>ACA346820153NRXN1c.3748G>T (p.Ala1250Ser)
n.915G>T
c.606-1425G>T (n.606-1425G>T)
c.614-1425G>T (n.614-1425G>T)
c.643G>T (p.Ala215Ser)
c.3868G>T (p.Ala1290Ser)
c.3712G>T (p.Ala1238Ser)
c.3719-1425G>T (n.3719-1425G>T)
c.-119-1425G>T (n.-119-1425G>T)
c.3724G>T (p.Ala1242Ser)
n.557G>T
c.3769G>T (p.Ala1257Ser)
c.3740-1425G>T (n.3740-1425G>T)
c.3766G>T (p.Ala1256Ser)
c.3757G>T (p.Ala1253Ser)
c.3751G>T (p.Ala1251Ser)
c.3742G>T (p.Ala1248Ser)
c.3739G>T (p.Ala1247Ser)
c.3709G>T (p.Ala1237Ser)
c.3679G>T (p.Ala1227Ser)
c.3695-1425G>T (n.3695-1425G>T)
c.2974G>T (p.Ala992Ser)
c.2929G>T (p.Ala977Ser)
c.2902G>T (p.Ala968Ser)
c.2809G>T (p.Ala937Ser)
c.3653-1425G>T (n.3653-1425G>T)
c.3682G>T (p.Ala1228Ser)
c.3721G>T (p.Ala1241Ser)
c.3608-1425G>T (n.3608-1425G>T)
c.3638-1425G>T (n.3638-1425G>T)
c.3745G>T (p.Ala1249Ser)
c.3736G>T (p.Ala1246Ser)
c.3668-1425G>T (n.3668-1425G>T)
c.3796G>T (p.Ala1266Ser)
c.3793G>T (p.Ala1265Ser)
c.3784G>T (p.Ala1262Ser)
c.3778G>T (p.Ala1260Ser)
c.3775G>T (p.Ala1259Ser)
c.3733G>T (p.Ala1245Ser)
c.3767-1425G>T (n.3767-1425G>T)
c.3713-1425G>T (n.3713-1425G>T)
c.3701-1425G>T (n.3701-1425G>T)
c.2836G>T (p.Ala946Ser)
2g.50055015C=CA1249354470NRXN1c.3748G= (p.Ala1250=)
n.915G=
c.606-1425G= (n.606-1425G=)
c.614-1425G= (n.614-1425G=)
c.643G= (p.Ala215=)
c.3868G= (p.Ala1290=)
c.3712G= (p.Ala1238=)
c.3719-1425G= (n.3719-1425G=)
c.-119-1425G= (n.-119-1425G=)
c.3724G= (p.Ala1242=)
n.557G=
c.3769G= (p.Ala1257=)
c.3740-1425G= (n.3740-1425G=)
c.3766G= (p.Ala1256=)
c.3757G= (p.Ala1253=)
c.3751G= (p.Ala1251=)
c.3742G= (p.Ala1248=)
c.3739G= (p.Ala1247=)
c.3709G= (p.Ala1237=)
c.3679G= (p.Ala1227=)
c.3695-1425G= (n.3695-1425G=)
c.2974G= (p.Ala992=)
c.2929G= (p.Ala977=)
c.2902G= (p.Ala968=)
c.2809G= (p.Ala937=)
c.3653-1425G= (n.3653-1425G=)
c.3682G= (p.Ala1228=)
c.3721G= (p.Ala1241=)
c.3608-1425G= (n.3608-1425G=)
c.3638-1425G= (n.3638-1425G=)
c.3745G= (p.Ala1249=)
c.3736G= (p.Ala1246=)
c.3668-1425G= (n.3668-1425G=)
c.3796G= (p.Ala1266=)
c.3793G= (p.Ala1265=)
c.3784G= (p.Ala1262=)
c.3778G= (p.Ala1260=)
c.3775G= (p.Ala1259=)
c.3733G= (p.Ala1245=)
c.3767-1425G= (n.3767-1425G=)
c.3713-1425G= (n.3713-1425G=)
c.3701-1425G= (n.3701-1425G=)
c.2836G= (p.Ala946=)
2g.50055015C>GCA346820154NRXN1c.3748G>C (p.Ala1250Pro)
n.915G>C
c.606-1425G>C (n.606-1425G>C)
c.614-1425G>C (n.614-1425G>C)
c.643G>C (p.Ala215Pro)
c.3868G>C (p.Ala1290Pro)
c.3712G>C (p.Ala1238Pro)
c.3719-1425G>C (n.3719-1425G>C)
c.-119-1425G>C (n.-119-1425G>C)
c.3724G>C (p.Ala1242Pro)
n.557G>C
c.3769G>C (p.Ala1257Pro)
c.3740-1425G>C (n.3740-1425G>C)
c.3766G>C (p.Ala1256Pro)
c.3757G>C (p.Ala1253Pro)
c.3751G>C (p.Ala1251Pro)
c.3742G>C (p.Ala1248Pro)
c.3739G>C (p.Ala1247Pro)
c.3709G>C (p.Ala1237Pro)
c.3679G>C (p.Ala1227Pro)
c.3695-1425G>C (n.3695-1425G>C)
c.2974G>C (p.Ala992Pro)
c.2929G>C (p.Ala977Pro)
c.2902G>C (p.Ala968Pro)
c.2809G>C (p.Ala937Pro)
c.3653-1425G>C (n.3653-1425G>C)
c.3682G>C (p.Ala1228Pro)
c.3721G>C (p.Ala1241Pro)
c.3608-1425G>C (n.3608-1425G>C)
c.3638-1425G>C (n.3638-1425G>C)
c.3745G>C (p.Ala1249Pro)
c.3736G>C (p.Ala1246Pro)
c.3668-1425G>C (n.3668-1425G>C)
c.3796G>C (p.Ala1266Pro)
c.3793G>C (p.Ala1265Pro)
c.3784G>C (p.Ala1262Pro)
c.3778G>C (p.Ala1260Pro)
c.3775G>C (p.Ala1259Pro)
c.3733G>C (p.Ala1245Pro)
c.3767-1425G>C (n.3767-1425G>C)
c.3713-1425G>C (n.3713-1425G>C)
c.3701-1425G>C (n.3701-1425G>C)
c.2836G>C (p.Ala946Pro)
2g.50055015C>TCA346820152NRXN1c.3748G>A (p.Ala1250Thr)
n.915G>A
c.606-1425G>A (n.606-1425G>A)
c.614-1425G>A (n.614-1425G>A)
c.643G>A (p.Ala215Thr)
c.3868G>A (p.Ala1290Thr)
c.3712G>A (p.Ala1238Thr)
c.3719-1425G>A (n.3719-1425G>A)
c.-119-1425G>A (n.-119-1425G>A)
c.3724G>A (p.Ala1242Thr)
n.557G>A
c.3769G>A (p.Ala1257Thr)
c.3740-1425G>A (n.3740-1425G>A)
c.3766G>A (p.Ala1256Thr)
c.3757G>A (p.Ala1253Thr)
c.3751G>A (p.Ala1251Thr)
c.3742G>A (p.Ala1248Thr)
c.3739G>A (p.Ala1247Thr)
c.3709G>A (p.Ala1237Thr)
c.3679G>A (p.Ala1227Thr)
c.3695-1425G>A (n.3695-1425G>A)
c.2974G>A (p.Ala992Thr)
c.2929G>A (p.Ala977Thr)
c.2902G>A (p.Ala968Thr)
c.2809G>A (p.Ala937Thr)
c.3653-1425G>A (n.3653-1425G>A)
c.3682G>A (p.Ala1228Thr)
c.3721G>A (p.Ala1241Thr)
c.3608-1425G>A (n.3608-1425G>A)
c.3638-1425G>A (n.3638-1425G>A)
c.3745G>A (p.Ala1249Thr)
c.3736G>A (p.Ala1246Thr)
c.3668-1425G>A (n.3668-1425G>A)
c.3796G>A (p.Ala1266Thr)
c.3793G>A (p.Ala1265Thr)
c.3784G>A (p.Ala1262Thr)
c.3778G>A (p.Ala1260Thr)
c.3775G>A (p.Ala1259Thr)
c.3733G>A (p.Ala1245Thr)
c.3767-1425G>A (n.3767-1425G>A)
c.3713-1425G>A (n.3713-1425G>A)
c.3701-1425G>A (n.3701-1425G>A)
c.2836G>A (p.Ala946Thr)
dbSNP gnomAD v4
2g.50055016A=CA1249354471NRXN1c.3747T= (p.Ile1249=)
n.914T=
c.606-1426T= (n.606-1426T=)
c.614-1426T= (n.614-1426T=)
c.642T= (p.Ile214=)
c.3867T= (p.Ile1289=)
c.3711T= (p.Ile1237=)
c.3719-1426T= (n.3719-1426T=)
c.-119-1426T= (n.-119-1426T=)
c.3723T= (p.Ile1241=)
n.556T=
c.3768T= (p.Ile1256=)
c.3740-1426T= (n.3740-1426T=)
c.3765T= (p.Ile1255=)
c.3756T= (p.Ile1252=)
c.3750T= (p.Ile1250=)
c.3741T= (p.Ile1247=)
c.3738T= (p.Ile1246=)
c.3708T= (p.Ile1236=)
c.3678T= (p.Ile1226=)
c.3695-1426T= (n.3695-1426T=)
c.2973T= (p.Ile991=)
c.2928T= (p.Ile976=)
c.2901T= (p.Ile967=)
c.2808T= (p.Ile936=)
c.3653-1426T= (n.3653-1426T=)
c.3681T= (p.Ile1227=)
c.3720T= (p.Ile1240=)
c.3608-1426T= (n.3608-1426T=)
c.3638-1426T= (n.3638-1426T=)
c.3744T= (p.Ile1248=)
c.3735T= (p.Ile1245=)
c.3668-1426T= (n.3668-1426T=)
c.3795T= (p.Ile1265=)
c.3792T= (p.Ile1264=)
c.3783T= (p.Ile1261=)
c.3777T= (p.Ile1259=)
c.3774T= (p.Ile1258=)
c.3732T= (p.Ile1244=)
c.3767-1426T= (n.3767-1426T=)
c.3713-1426T= (n.3713-1426T=)
c.3701-1426T= (n.3701-1426T=)
c.2835T= (p.Ile945=)
2g.50055016A>CCA346820155NRXN1c.3747T>G (p.Ile1249Met)
n.914T>G
c.606-1426T>G (n.606-1426T>G)
c.614-1426T>G (n.614-1426T>G)
c.642T>G (p.Ile214Met)
c.3867T>G (p.Ile1289Met)
c.3711T>G (p.Ile1237Met)
c.3719-1426T>G (n.3719-1426T>G)
c.-119-1426T>G (n.-119-1426T>G)
c.3723T>G (p.Ile1241Met)
n.556T>G
c.3768T>G (p.Ile1256Met)
c.3740-1426T>G (n.3740-1426T>G)
c.3765T>G (p.Ile1255Met)
c.3756T>G (p.Ile1252Met)
c.3750T>G (p.Ile1250Met)
c.3741T>G (p.Ile1247Met)
c.3738T>G (p.Ile1246Met)
c.3708T>G (p.Ile1236Met)
c.3678T>G (p.Ile1226Met)
c.3695-1426T>G (n.3695-1426T>G)
c.2973T>G (p.Ile991Met)
c.2928T>G (p.Ile976Met)
c.2901T>G (p.Ile967Met)
c.2808T>G (p.Ile936Met)
c.3653-1426T>G (n.3653-1426T>G)
c.3681T>G (p.Ile1227Met)
c.3720T>G (p.Ile1240Met)
c.3608-1426T>G (n.3608-1426T>G)
c.3638-1426T>G (n.3638-1426T>G)
c.3744T>G (p.Ile1248Met)
c.3735T>G (p.Ile1245Met)
c.3668-1426T>G (n.3668-1426T>G)
c.3795T>G (p.Ile1265Met)
c.3792T>G (p.Ile1264Met)
c.3783T>G (p.Ile1261Met)
c.3777T>G (p.Ile1259Met)
c.3774T>G (p.Ile1258Met)
c.3732T>G (p.Ile1244Met)
c.3767-1426T>G (n.3767-1426T>G)
c.3713-1426T>G (n.3713-1426T>G)
c.3701-1426T>G (n.3701-1426T>G)
c.2835T>G (p.Ile945Met)
2g.50055016A>GCA426101698NRXN1c.3747T>C (p.Ile1249=)
n.914T>C
c.606-1426T>C (n.606-1426T>C)
c.614-1426T>C (n.614-1426T>C)
c.642T>C (p.Ile214=)
c.3867T>C (p.Ile1289=)
c.3711T>C (p.Ile1237=)
c.3719-1426T>C (n.3719-1426T>C)
c.-119-1426T>C (n.-119-1426T>C)
c.3723T>C (p.Ile1241=)
n.556T>C
c.3768T>C (p.Ile1256=)
c.3740-1426T>C (n.3740-1426T>C)
c.3765T>C (p.Ile1255=)
c.3756T>C (p.Ile1252=)
c.3750T>C (p.Ile1250=)
c.3741T>C (p.Ile1247=)
c.3738T>C (p.Ile1246=)
c.3708T>C (p.Ile1236=)
c.3678T>C (p.Ile1226=)
c.3695-1426T>C (n.3695-1426T>C)
c.2973T>C (p.Ile991=)
c.2928T>C (p.Ile976=)
c.2901T>C (p.Ile967=)
c.2808T>C (p.Ile936=)
c.3653-1426T>C (n.3653-1426T>C)
c.3681T>C (p.Ile1227=)
c.3720T>C (p.Ile1240=)
c.3608-1426T>C (n.3608-1426T>C)
c.3638-1426T>C (n.3638-1426T>C)
c.3744T>C (p.Ile1248=)
c.3735T>C (p.Ile1245=)
c.3668-1426T>C (n.3668-1426T>C)
c.3795T>C (p.Ile1265=)
c.3792T>C (p.Ile1264=)
c.3783T>C (p.Ile1261=)
c.3777T>C (p.Ile1259=)
c.3774T>C (p.Ile1258=)
c.3732T>C (p.Ile1244=)
c.3767-1426T>C (n.3767-1426T>C)
c.3713-1426T>C (n.3713-1426T>C)
c.3701-1426T>C (n.3701-1426T>C)
c.2835T>C (p.Ile945=)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched