Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.50091407A=CA1249373436NRXN1c.3634T= (p.Tyr1212=)
n.801T=
c.521T= (n.521T=)
c.529T= (p.Tyr177=)
c.3754T= (p.Tyr1252=)
c.3598T= (p.Tyr1200=)
c.-204T= (n.-204T=)
c.3610T= (p.Tyr1204=)
n.443T=
c.3655T= (p.Tyr1219=)
c.3652T= (p.Tyr1218=)
c.3643T= (p.Tyr1215=)
c.3637T= (p.Tyr1213=)
c.3628T= (p.Tyr1210=)
c.3625T= (p.Tyr1209=)
c.3595T= (p.Tyr1199=)
c.3565T= (p.Tyr1189=)
c.2860T= (p.Tyr954=)
c.2815T= (p.Tyr939=)
c.2788T= (p.Tyr930=)
c.2695T= (p.Tyr899=)
c.3568T= (p.Tyr1190=)
c.3607T= (p.Tyr1203=)
c.3523T= (p.Tyr1175=)
c.3553T= (p.Tyr1185=)
c.3631T= (p.Tyr1211=)
c.3622T= (p.Tyr1208=)
c.3583T= (p.Tyr1195=)
c.3682T= (p.Tyr1228=)
c.3679T= (p.Tyr1227=)
c.3670T= (p.Tyr1224=)
c.3664T= (p.Tyr1222=)
c.3661T= (p.Tyr1221=)
c.3619T= (p.Tyr1207=)
c.3616T= (p.Tyr1206=)
c.2722T= (p.Tyr908=)
2g.50091407A>CCA346819121NRXN1c.3634T>G (p.Tyr1212Asp)
n.801T>G
c.521T>G (n.521T>G)
c.529T>G (p.Tyr177Asp)
c.3754T>G (p.Tyr1252Asp)
c.3598T>G (p.Tyr1200Asp)
c.-204T>G (n.-204T>G)
c.3610T>G (p.Tyr1204Asp)
n.443T>G
c.3655T>G (p.Tyr1219Asp)
c.3652T>G (p.Tyr1218Asp)
c.3643T>G (p.Tyr1215Asp)
c.3637T>G (p.Tyr1213Asp)
c.3628T>G (p.Tyr1210Asp)
c.3625T>G (p.Tyr1209Asp)
c.3595T>G (p.Tyr1199Asp)
c.3565T>G (p.Tyr1189Asp)
c.2860T>G (p.Tyr954Asp)
c.2815T>G (p.Tyr939Asp)
c.2788T>G (p.Tyr930Asp)
c.2695T>G (p.Tyr899Asp)
c.3568T>G (p.Tyr1190Asp)
c.3607T>G (p.Tyr1203Asp)
c.3523T>G (p.Tyr1175Asp)
c.3553T>G (p.Tyr1185Asp)
c.3631T>G (p.Tyr1211Asp)
c.3622T>G (p.Tyr1208Asp)
c.3583T>G (p.Tyr1195Asp)
c.3682T>G (p.Tyr1228Asp)
c.3679T>G (p.Tyr1227Asp)
c.3670T>G (p.Tyr1224Asp)
c.3664T>G (p.Tyr1222Asp)
c.3661T>G (p.Tyr1221Asp)
c.3619T>G (p.Tyr1207Asp)
c.3616T>G (p.Tyr1206Asp)
c.2722T>G (p.Tyr908Asp)
2g.50091407A>GCA346819123NRXN1c.3634T>C (p.Tyr1212His)
n.801T>C
c.521T>C (n.521T>C)
c.529T>C (p.Tyr177His)
c.3754T>C (p.Tyr1252His)
c.3598T>C (p.Tyr1200His)
c.-204T>C (n.-204T>C)
c.3610T>C (p.Tyr1204His)
n.443T>C
c.3655T>C (p.Tyr1219His)
c.3652T>C (p.Tyr1218His)
c.3643T>C (p.Tyr1215His)
c.3637T>C (p.Tyr1213His)
c.3628T>C (p.Tyr1210His)
c.3625T>C (p.Tyr1209His)
c.3595T>C (p.Tyr1199His)
c.3565T>C (p.Tyr1189His)
c.2860T>C (p.Tyr954His)
c.2815T>C (p.Tyr939His)
c.2788T>C (p.Tyr930His)
c.2695T>C (p.Tyr899His)
c.3568T>C (p.Tyr1190His)
c.3607T>C (p.Tyr1203His)
c.3523T>C (p.Tyr1175His)
c.3553T>C (p.Tyr1185His)
c.3631T>C (p.Tyr1211His)
c.3622T>C (p.Tyr1208His)
c.3583T>C (p.Tyr1195His)
c.3682T>C (p.Tyr1228His)
c.3679T>C (p.Tyr1227His)
c.3670T>C (p.Tyr1224His)
c.3664T>C (p.Tyr1222His)
c.3661T>C (p.Tyr1221His)
c.3619T>C (p.Tyr1207His)
c.3616T>C (p.Tyr1206His)
c.2722T>C (p.Tyr908His)
2g.50091407A>TCA346819122NRXN1c.3634T>A (p.Tyr1212Asn)
n.801T>A
c.521T>A (n.521T>A)
c.529T>A (p.Tyr177Asn)
c.3754T>A (p.Tyr1252Asn)
c.3598T>A (p.Tyr1200Asn)
c.-204T>A (n.-204T>A)
c.3610T>A (p.Tyr1204Asn)
n.443T>A
c.3655T>A (p.Tyr1219Asn)
c.3652T>A (p.Tyr1218Asn)
c.3643T>A (p.Tyr1215Asn)
c.3637T>A (p.Tyr1213Asn)
c.3628T>A (p.Tyr1210Asn)
c.3625T>A (p.Tyr1209Asn)
c.3595T>A (p.Tyr1199Asn)
c.3565T>A (p.Tyr1189Asn)
c.2860T>A (p.Tyr954Asn)
c.2815T>A (p.Tyr939Asn)
c.2788T>A (p.Tyr930Asn)
c.2695T>A (p.Tyr899Asn)
c.3568T>A (p.Tyr1190Asn)
c.3607T>A (p.Tyr1203Asn)
c.3523T>A (p.Tyr1175Asn)
c.3553T>A (p.Tyr1185Asn)
c.3631T>A (p.Tyr1211Asn)
c.3622T>A (p.Tyr1208Asn)
c.3583T>A (p.Tyr1195Asn)
c.3682T>A (p.Tyr1228Asn)
c.3679T>A (p.Tyr1227Asn)
c.3670T>A (p.Tyr1224Asn)
c.3664T>A (p.Tyr1222Asn)
c.3661T>A (p.Tyr1221Asn)
c.3619T>A (p.Tyr1207Asn)
c.3616T>A (p.Tyr1206Asn)
c.2722T>A (p.Tyr908Asn)
ClinVar dbSNP gnomAD v4
2g.50091408T>ACA346819124NRXN1c.3633A>T (p.Lys1211Asn)
n.800A>T
c.520A>T (n.520A>T)
c.528A>T (p.Lys176Asn)
c.3753A>T (p.Lys1251Asn)
c.3597A>T (p.Lys1199Asn)
c.-205A>T (n.-205A>T)
c.3609A>T (p.Lys1203Asn)
n.442A>T
c.3654A>T (p.Lys1218Asn)
c.3651A>T (p.Lys1217Asn)
c.3642A>T (p.Lys1214Asn)
c.3636A>T (p.Lys1212Asn)
c.3627A>T (p.Lys1209Asn)
c.3624A>T (p.Lys1208Asn)
c.3594A>T (p.Lys1198Asn)
c.3564A>T (p.Lys1188Asn)
c.2859A>T (p.Lys953Asn)
c.2814A>T (p.Lys938Asn)
c.2787A>T (p.Lys929Asn)
c.2694A>T (p.Lys898Asn)
c.3567A>T (p.Lys1189Asn)
c.3606A>T (p.Lys1202Asn)
c.3522A>T (p.Lys1174Asn)
c.3552A>T (p.Lys1184Asn)
c.3630A>T (p.Lys1210Asn)
c.3621A>T (p.Lys1207Asn)
c.3582A>T (p.Lys1194Asn)
c.3681A>T (p.Lys1227Asn)
c.3678A>T (p.Lys1226Asn)
c.3669A>T (p.Lys1223Asn)
c.3663A>T (p.Lys1221Asn)
c.3660A>T (p.Lys1220Asn)
c.3618A>T (p.Lys1206Asn)
c.3615A>T (p.Lys1205Asn)
c.2721A>T (p.Lys907Asn)
2g.50091408T>CCA426101612NRXN1c.3633A>G (p.Lys1211=)
n.800A>G
c.520A>G (n.520A>G)
c.528A>G (p.Lys176=)
c.3753A>G (p.Lys1251=)
c.3597A>G (p.Lys1199=)
c.-205A>G (n.-205A>G)
c.3609A>G (p.Lys1203=)
n.442A>G
c.3654A>G (p.Lys1218=)
c.3651A>G (p.Lys1217=)
c.3642A>G (p.Lys1214=)
c.3636A>G (p.Lys1212=)
c.3627A>G (p.Lys1209=)
c.3624A>G (p.Lys1208=)
c.3594A>G (p.Lys1198=)
c.3564A>G (p.Lys1188=)
c.2859A>G (p.Lys953=)
c.2814A>G (p.Lys938=)
c.2787A>G (p.Lys929=)
c.2694A>G (p.Lys898=)
c.3567A>G (p.Lys1189=)
c.3606A>G (p.Lys1202=)
c.3522A>G (p.Lys1174=)
c.3552A>G (p.Lys1184=)
c.3630A>G (p.Lys1210=)
c.3621A>G (p.Lys1207=)
c.3582A>G (p.Lys1194=)
c.3681A>G (p.Lys1227=)
c.3678A>G (p.Lys1226=)
c.3669A>G (p.Lys1223=)
c.3663A>G (p.Lys1221=)
c.3660A>G (p.Lys1220=)
c.3618A>G (p.Lys1206=)
c.3615A>G (p.Lys1205=)
c.2721A>G (p.Lys907=)
2g.50091408T>GCA346819125NRXN1c.3633A>C (p.Lys1211Asn)
n.800A>C
c.520A>C (n.520A>C)
c.528A>C (p.Lys176Asn)
c.3753A>C (p.Lys1251Asn)
c.3597A>C (p.Lys1199Asn)
c.-205A>C (n.-205A>C)
c.3609A>C (p.Lys1203Asn)
n.442A>C
c.3654A>C (p.Lys1218Asn)
c.3651A>C (p.Lys1217Asn)
c.3642A>C (p.Lys1214Asn)
c.3636A>C (p.Lys1212Asn)
c.3627A>C (p.Lys1209Asn)
c.3624A>C (p.Lys1208Asn)
c.3594A>C (p.Lys1198Asn)
c.3564A>C (p.Lys1188Asn)
c.2859A>C (p.Lys953Asn)
c.2814A>C (p.Lys938Asn)
c.2787A>C (p.Lys929Asn)
c.2694A>C (p.Lys898Asn)
c.3567A>C (p.Lys1189Asn)
c.3606A>C (p.Lys1202Asn)
c.3522A>C (p.Lys1174Asn)
c.3552A>C (p.Lys1184Asn)
c.3630A>C (p.Lys1210Asn)
c.3621A>C (p.Lys1207Asn)
c.3582A>C (p.Lys1194Asn)
c.3681A>C (p.Lys1227Asn)
c.3678A>C (p.Lys1226Asn)
c.3669A>C (p.Lys1223Asn)
c.3663A>C (p.Lys1221Asn)
c.3660A>C (p.Lys1220Asn)
c.3618A>C (p.Lys1206Asn)
c.3615A>C (p.Lys1205Asn)
c.2721A>C (p.Lys907Asn)
2g.50091409T>ACA346819126NRXN1c.3632A>T (p.Lys1211Ile)
n.799A>T
c.519A>T (n.519A>T)
c.527A>T (p.Lys176Ile)
c.3752A>T (p.Lys1251Ile)
c.3596A>T (p.Lys1199Ile)
c.-206A>T (n.-206A>T)
c.3608A>T (p.Lys1203Ile)
n.441A>T
c.3653A>T (p.Lys1218Ile)
c.3650A>T (p.Lys1217Ile)
c.3641A>T (p.Lys1214Ile)
c.3635A>T (p.Lys1212Ile)
c.3626A>T (p.Lys1209Ile)
c.3623A>T (p.Lys1208Ile)
c.3593A>T (p.Lys1198Ile)
c.3563A>T (p.Lys1188Ile)
c.2858A>T (p.Lys953Ile)
c.2813A>T (p.Lys938Ile)
c.2786A>T (p.Lys929Ile)
c.2693A>T (p.Lys898Ile)
c.3566A>T (p.Lys1189Ile)
c.3605A>T (p.Lys1202Ile)
c.3521A>T (p.Lys1174Ile)
c.3551A>T (p.Lys1184Ile)
c.3629A>T (p.Lys1210Ile)
c.3620A>T (p.Lys1207Ile)
c.3581A>T (p.Lys1194Ile)
c.3680A>T (p.Lys1227Ile)
c.3677A>T (p.Lys1226Ile)
c.3668A>T (p.Lys1223Ile)
c.3662A>T (p.Lys1221Ile)
c.3659A>T (p.Lys1220Ile)
c.3617A>T (p.Lys1206Ile)
c.3614A>T (p.Lys1205Ile)
c.2720A>T (p.Lys907Ile)
2g.50091409T>CCA346819128NRXN1c.3632A>G (p.Lys1211Arg)
n.799A>G
c.519A>G (n.519A>G)
c.527A>G (p.Lys176Arg)
c.3752A>G (p.Lys1251Arg)
c.3596A>G (p.Lys1199Arg)
c.-206A>G (n.-206A>G)
c.3608A>G (p.Lys1203Arg)
n.441A>G
c.3653A>G (p.Lys1218Arg)
c.3650A>G (p.Lys1217Arg)
c.3641A>G (p.Lys1214Arg)
c.3635A>G (p.Lys1212Arg)
c.3626A>G (p.Lys1209Arg)
c.3623A>G (p.Lys1208Arg)
c.3593A>G (p.Lys1198Arg)
c.3563A>G (p.Lys1188Arg)
c.2858A>G (p.Lys953Arg)
c.2813A>G (p.Lys938Arg)
c.2786A>G (p.Lys929Arg)
c.2693A>G (p.Lys898Arg)
c.3566A>G (p.Lys1189Arg)
c.3605A>G (p.Lys1202Arg)
c.3521A>G (p.Lys1174Arg)
c.3551A>G (p.Lys1184Arg)
c.3629A>G (p.Lys1210Arg)
c.3620A>G (p.Lys1207Arg)
c.3581A>G (p.Lys1194Arg)
c.3680A>G (p.Lys1227Arg)
c.3677A>G (p.Lys1226Arg)
c.3668A>G (p.Lys1223Arg)
c.3662A>G (p.Lys1221Arg)
c.3659A>G (p.Lys1220Arg)
c.3617A>G (p.Lys1206Arg)
c.3614A>G (p.Lys1205Arg)
c.2720A>G (p.Lys907Arg)
2g.50091409T>GCA346819127NRXN1c.3632A>C (p.Lys1211Thr)
n.799A>C
c.519A>C (n.519A>C)
c.527A>C (p.Lys176Thr)
c.3752A>C (p.Lys1251Thr)
c.3596A>C (p.Lys1199Thr)
c.-206A>C (n.-206A>C)
c.3608A>C (p.Lys1203Thr)
n.441A>C
c.3653A>C (p.Lys1218Thr)
c.3650A>C (p.Lys1217Thr)
c.3641A>C (p.Lys1214Thr)
c.3635A>C (p.Lys1212Thr)
c.3626A>C (p.Lys1209Thr)
c.3623A>C (p.Lys1208Thr)
c.3593A>C (p.Lys1198Thr)
c.3563A>C (p.Lys1188Thr)
c.2858A>C (p.Lys953Thr)
c.2813A>C (p.Lys938Thr)
c.2786A>C (p.Lys929Thr)
c.2693A>C (p.Lys898Thr)
c.3566A>C (p.Lys1189Thr)
c.3605A>C (p.Lys1202Thr)
c.3521A>C (p.Lys1174Thr)
c.3551A>C (p.Lys1184Thr)
c.3629A>C (p.Lys1210Thr)
c.3620A>C (p.Lys1207Thr)
c.3581A>C (p.Lys1194Thr)
c.3680A>C (p.Lys1227Thr)
c.3677A>C (p.Lys1226Thr)
c.3668A>C (p.Lys1223Thr)
c.3662A>C (p.Lys1221Thr)
c.3659A>C (p.Lys1220Thr)
c.3617A>C (p.Lys1206Thr)
c.3614A>C (p.Lys1205Thr)
c.2720A>C (p.Lys907Thr)
2g.50091410T>ACA346819129NRXN1c.3631A>T (p.Lys1211Ter)
n.798A>T
c.518A>T (n.518A>T)
c.526A>T (p.Lys176Ter)
c.3751A>T (p.Lys1251Ter)
c.3595A>T (p.Lys1199Ter)
c.-207A>T (n.-207A>T)
c.3607A>T (p.Lys1203Ter)
n.440A>T
c.3652A>T (p.Lys1218Ter)
c.3649A>T (p.Lys1217Ter)
c.3640A>T (p.Lys1214Ter)
c.3634A>T (p.Lys1212Ter)
c.3625A>T (p.Lys1209Ter)
c.3622A>T (p.Lys1208Ter)
c.3592A>T (p.Lys1198Ter)
c.3562A>T (p.Lys1188Ter)
c.2857A>T (p.Lys953Ter)
c.2812A>T (p.Lys938Ter)
c.2785A>T (p.Lys929Ter)
c.2692A>T (p.Lys898Ter)
c.3565A>T (p.Lys1189Ter)
c.3604A>T (p.Lys1202Ter)
c.3520A>T (p.Lys1174Ter)
c.3550A>T (p.Lys1184Ter)
c.3628A>T (p.Lys1210Ter)
c.3619A>T (p.Lys1207Ter)
c.3580A>T (p.Lys1194Ter)
c.3679A>T (p.Lys1227Ter)
c.3676A>T (p.Lys1226Ter)
c.3667A>T (p.Lys1223Ter)
c.3661A>T (p.Lys1221Ter)
c.3658A>T (p.Lys1220Ter)
c.3616A>T (p.Lys1206Ter)
c.3613A>T (p.Lys1205Ter)
c.2719A>T (p.Lys907Ter)
2g.50091410T>CCA346819131NRXN1c.3631A>G (p.Lys1211Glu)
n.798A>G
c.518A>G (n.518A>G)
c.526A>G (p.Lys176Glu)
c.3751A>G (p.Lys1251Glu)
c.3595A>G (p.Lys1199Glu)
c.-207A>G (n.-207A>G)
c.3607A>G (p.Lys1203Glu)
n.440A>G
c.3652A>G (p.Lys1218Glu)
c.3649A>G (p.Lys1217Glu)
c.3640A>G (p.Lys1214Glu)
c.3634A>G (p.Lys1212Glu)
c.3625A>G (p.Lys1209Glu)
c.3622A>G (p.Lys1208Glu)
c.3592A>G (p.Lys1198Glu)
c.3562A>G (p.Lys1188Glu)
c.2857A>G (p.Lys953Glu)
c.2812A>G (p.Lys938Glu)
c.2785A>G (p.Lys929Glu)
c.2692A>G (p.Lys898Glu)
c.3565A>G (p.Lys1189Glu)
c.3604A>G (p.Lys1202Glu)
c.3520A>G (p.Lys1174Glu)
c.3550A>G (p.Lys1184Glu)
c.3628A>G (p.Lys1210Glu)
c.3619A>G (p.Lys1207Glu)
c.3580A>G (p.Lys1194Glu)
c.3679A>G (p.Lys1227Glu)
c.3676A>G (p.Lys1226Glu)
c.3667A>G (p.Lys1223Glu)
c.3661A>G (p.Lys1221Glu)
c.3658A>G (p.Lys1220Glu)
c.3616A>G (p.Lys1206Glu)
c.3613A>G (p.Lys1205Glu)
c.2719A>G (p.Lys907Glu)
2g.50091410T>GCA346819130NRXN1c.3631A>C (p.Lys1211Gln)
n.798A>C
c.518A>C (n.518A>C)
c.526A>C (p.Lys176Gln)
c.3751A>C (p.Lys1251Gln)
c.3595A>C (p.Lys1199Gln)
c.-207A>C (n.-207A>C)
c.3607A>C (p.Lys1203Gln)
n.440A>C
c.3652A>C (p.Lys1218Gln)
c.3649A>C (p.Lys1217Gln)
c.3640A>C (p.Lys1214Gln)
c.3634A>C (p.Lys1212Gln)
c.3625A>C (p.Lys1209Gln)
c.3622A>C (p.Lys1208Gln)
c.3592A>C (p.Lys1198Gln)
c.3562A>C (p.Lys1188Gln)
c.2857A>C (p.Lys953Gln)
c.2812A>C (p.Lys938Gln)
c.2785A>C (p.Lys929Gln)
c.2692A>C (p.Lys898Gln)
c.3565A>C (p.Lys1189Gln)
c.3604A>C (p.Lys1202Gln)
c.3520A>C (p.Lys1174Gln)
c.3550A>C (p.Lys1184Gln)
c.3628A>C (p.Lys1210Gln)
c.3619A>C (p.Lys1207Gln)
c.3580A>C (p.Lys1194Gln)
c.3679A>C (p.Lys1227Gln)
c.3676A>C (p.Lys1226Gln)
c.3667A>C (p.Lys1223Gln)
c.3661A>C (p.Lys1221Gln)
c.3658A>C (p.Lys1220Gln)
c.3616A>C (p.Lys1206Gln)
c.3613A>C (p.Lys1205Gln)
c.2719A>C (p.Lys907Gln)
2g.50091411C>ACA1654405NRXN1c.3630G>T (p.Gly1210=)
n.797G>T
c.517G>T (n.517G>T)
c.525G>T (p.Gly175=)
c.3750G>T (p.Gly1250=)
c.3594G>T (p.Gly1198=)
c.-208G>T (n.-208G>T)
c.3606G>T (p.Gly1202=)
n.439G>T
c.3651G>T (p.Gly1217=)
c.3648G>T (p.Gly1216=)
c.3639G>T (p.Gly1213=)
c.3633G>T (p.Gly1211=)
c.3624G>T (p.Gly1208=)
c.3621G>T (p.Gly1207=)
c.3591G>T (p.Gly1197=)
c.3561G>T (p.Gly1187=)
c.2856G>T (p.Gly952=)
c.2811G>T (p.Gly937=)
c.2784G>T (p.Gly928=)
c.2691G>T (p.Gly897=)
c.3564G>T (p.Gly1188=)
c.3603G>T (p.Gly1201=)
c.3519G>T (p.Gly1173=)
c.3549G>T (p.Gly1183=)
c.3627G>T (p.Gly1209=)
c.3618G>T (p.Gly1206=)
c.3579G>T (p.Gly1193=)
c.3678G>T (p.Gly1226=)
c.3675G>T (p.Gly1225=)
c.3666G>T (p.Gly1222=)
c.3660G>T (p.Gly1220=)
c.3657G>T (p.Gly1219=)
c.3615G>T (p.Gly1205=)
c.3612G>T (p.Gly1204=)
c.2718G>T (p.Gly906=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.50091411C=CA1249373437NRXN1c.3630G= (p.Gly1210=)
n.797G=
c.517G= (n.517G=)
c.525G= (p.Gly175=)
c.3750G= (p.Gly1250=)
c.3594G= (p.Gly1198=)
c.-208G= (n.-208G=)
c.3606G= (p.Gly1202=)
n.439G=
c.3651G= (p.Gly1217=)
c.3648G= (p.Gly1216=)
c.3639G= (p.Gly1213=)
c.3633G= (p.Gly1211=)
c.3624G= (p.Gly1208=)
c.3621G= (p.Gly1207=)
c.3591G= (p.Gly1197=)
c.3561G= (p.Gly1187=)
c.2856G= (p.Gly952=)
c.2811G= (p.Gly937=)
c.2784G= (p.Gly928=)
c.2691G= (p.Gly897=)
c.3564G= (p.Gly1188=)
c.3603G= (p.Gly1201=)
c.3519G= (p.Gly1173=)
c.3549G= (p.Gly1183=)
c.3627G= (p.Gly1209=)
c.3618G= (p.Gly1206=)
c.3579G= (p.Gly1193=)
c.3678G= (p.Gly1226=)
c.3675G= (p.Gly1225=)
c.3666G= (p.Gly1222=)
c.3660G= (p.Gly1220=)
c.3657G= (p.Gly1219=)
c.3615G= (p.Gly1205=)
c.3612G= (p.Gly1204=)
c.2718G= (p.Gly906=)
2g.50091411C>GCA426101614NRXN1c.3630G>C (p.Gly1210=)
n.797G>C
c.517G>C (n.517G>C)
c.525G>C (p.Gly175=)
c.3750G>C (p.Gly1250=)
c.3594G>C (p.Gly1198=)
c.-208G>C (n.-208G>C)
c.3606G>C (p.Gly1202=)
n.439G>C
c.3651G>C (p.Gly1217=)
c.3648G>C (p.Gly1216=)
c.3639G>C (p.Gly1213=)
c.3633G>C (p.Gly1211=)
c.3624G>C (p.Gly1208=)
c.3621G>C (p.Gly1207=)
c.3591G>C (p.Gly1197=)
c.3561G>C (p.Gly1187=)
c.2856G>C (p.Gly952=)
c.2811G>C (p.Gly937=)
c.2784G>C (p.Gly928=)
c.2691G>C (p.Gly897=)
c.3564G>C (p.Gly1188=)
c.3603G>C (p.Gly1201=)
c.3519G>C (p.Gly1173=)
c.3549G>C (p.Gly1183=)
c.3627G>C (p.Gly1209=)
c.3618G>C (p.Gly1206=)
c.3579G>C (p.Gly1193=)
c.3678G>C (p.Gly1226=)
c.3675G>C (p.Gly1225=)
c.3666G>C (p.Gly1222=)
c.3660G>C (p.Gly1220=)
c.3657G>C (p.Gly1219=)
c.3615G>C (p.Gly1205=)
c.3612G>C (p.Gly1204=)
c.2718G>C (p.Gly906=)
gnomAD v4
2g.50091411C>TCA1654404NRXN1c.3630G>A (p.Gly1210=)
n.797G>A
c.517G>A (n.517G>A)
c.525G>A (p.Gly175=)
c.3750G>A (p.Gly1250=)
c.3594G>A (p.Gly1198=)
c.-208G>A (n.-208G>A)
c.3606G>A (p.Gly1202=)
n.439G>A
c.3651G>A (p.Gly1217=)
c.3648G>A (p.Gly1216=)
c.3639G>A (p.Gly1213=)
c.3633G>A (p.Gly1211=)
c.3624G>A (p.Gly1208=)
c.3621G>A (p.Gly1207=)
c.3591G>A (p.Gly1197=)
c.3561G>A (p.Gly1187=)
c.2856G>A (p.Gly952=)
c.2811G>A (p.Gly937=)
c.2784G>A (p.Gly928=)
c.2691G>A (p.Gly897=)
c.3564G>A (p.Gly1188=)
c.3603G>A (p.Gly1201=)
c.3519G>A (p.Gly1173=)
c.3549G>A (p.Gly1183=)
c.3627G>A (p.Gly1209=)
c.3618G>A (p.Gly1206=)
c.3579G>A (p.Gly1193=)
c.3678G>A (p.Gly1226=)
c.3675G>A (p.Gly1225=)
c.3666G>A (p.Gly1222=)
c.3660G>A (p.Gly1220=)
c.3657G>A (p.Gly1219=)
c.3615G>A (p.Gly1205=)
c.3612G>A (p.Gly1204=)
c.2718G>A (p.Gly906=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.50091412C>ACA346819132NRXN1c.3629G>T (p.Gly1210Val)
n.796G>T
c.516G>T (n.516G>T)
c.524G>T (p.Gly175Val)
c.3749G>T (p.Gly1250Val)
c.3593G>T (p.Gly1198Val)
c.-209G>T (n.-209G>T)
c.3605G>T (p.Gly1202Val)
n.438G>T
c.3650G>T (p.Gly1217Val)
c.3647G>T (p.Gly1216Val)
c.3638G>T (p.Gly1213Val)
c.3632G>T (p.Gly1211Val)
c.3623G>T (p.Gly1208Val)
c.3620G>T (p.Gly1207Val)
c.3590G>T (p.Gly1197Val)
c.3560G>T (p.Gly1187Val)
c.2855G>T (p.Gly952Val)
c.2810G>T (p.Gly937Val)
c.2783G>T (p.Gly928Val)
c.2690G>T (p.Gly897Val)
c.3563G>T (p.Gly1188Val)
c.3602G>T (p.Gly1201Val)
c.3518G>T (p.Gly1173Val)
c.3548G>T (p.Gly1183Val)
c.3626G>T (p.Gly1209Val)
c.3617G>T (p.Gly1206Val)
c.3578G>T (p.Gly1193Val)
c.3677G>T (p.Gly1226Val)
c.3674G>T (p.Gly1225Val)
c.3665G>T (p.Gly1222Val)
c.3659G>T (p.Gly1220Val)
c.3656G>T (p.Gly1219Val)
c.3614G>T (p.Gly1205Val)
c.3611G>T (p.Gly1204Val)
c.2717G>T (p.Gly906Val)
2g.50091412C>GCA346819133NRXN1c.3629G>C (p.Gly1210Ala)
n.796G>C
c.516G>C (n.516G>C)
c.524G>C (p.Gly175Ala)
c.3749G>C (p.Gly1250Ala)
c.3593G>C (p.Gly1198Ala)
c.-209G>C (n.-209G>C)
c.3605G>C (p.Gly1202Ala)
n.438G>C
c.3650G>C (p.Gly1217Ala)
c.3647G>C (p.Gly1216Ala)
c.3638G>C (p.Gly1213Ala)
c.3632G>C (p.Gly1211Ala)
c.3623G>C (p.Gly1208Ala)
c.3620G>C (p.Gly1207Ala)
c.3590G>C (p.Gly1197Ala)
c.3560G>C (p.Gly1187Ala)
c.2855G>C (p.Gly952Ala)
c.2810G>C (p.Gly937Ala)
c.2783G>C (p.Gly928Ala)
c.2690G>C (p.Gly897Ala)
c.3563G>C (p.Gly1188Ala)
c.3602G>C (p.Gly1201Ala)
c.3518G>C (p.Gly1173Ala)
c.3548G>C (p.Gly1183Ala)
c.3626G>C (p.Gly1209Ala)
c.3617G>C (p.Gly1206Ala)
c.3578G>C (p.Gly1193Ala)
c.3677G>C (p.Gly1226Ala)
c.3674G>C (p.Gly1225Ala)
c.3665G>C (p.Gly1222Ala)
c.3659G>C (p.Gly1220Ala)
c.3656G>C (p.Gly1219Ala)
c.3614G>C (p.Gly1205Ala)
c.3611G>C (p.Gly1204Ala)
c.2717G>C (p.Gly906Ala)
2g.50091412C>TCA346819134NRXN1c.3629G>A (p.Gly1210Glu)
n.796G>A
c.516G>A (n.516G>A)
c.524G>A (p.Gly175Glu)
c.3749G>A (p.Gly1250Glu)
c.3593G>A (p.Gly1198Glu)
c.-209G>A (n.-209G>A)
c.3605G>A (p.Gly1202Glu)
n.438G>A
c.3650G>A (p.Gly1217Glu)
c.3647G>A (p.Gly1216Glu)
c.3638G>A (p.Gly1213Glu)
c.3632G>A (p.Gly1211Glu)
c.3623G>A (p.Gly1208Glu)
c.3620G>A (p.Gly1207Glu)
c.3590G>A (p.Gly1197Glu)
c.3560G>A (p.Gly1187Glu)
c.2855G>A (p.Gly952Glu)
c.2810G>A (p.Gly937Glu)
c.2783G>A (p.Gly928Glu)
c.2690G>A (p.Gly897Glu)
c.3563G>A (p.Gly1188Glu)
c.3602G>A (p.Gly1201Glu)
c.3518G>A (p.Gly1173Glu)
c.3548G>A (p.Gly1183Glu)
c.3626G>A (p.Gly1209Glu)
c.3617G>A (p.Gly1206Glu)
c.3578G>A (p.Gly1193Glu)
c.3677G>A (p.Gly1226Glu)
c.3674G>A (p.Gly1225Glu)
c.3665G>A (p.Gly1222Glu)
c.3659G>A (p.Gly1220Glu)
c.3656G>A (p.Gly1219Glu)
c.3614G>A (p.Gly1205Glu)
c.3611G>A (p.Gly1204Glu)
c.2717G>A (p.Gly906Glu)
gnomAD v4
2g.50091413C>ACA346819135NRXN1c.3628G>T (p.Gly1210Trp)
n.795G>T
c.515G>T (n.515G>T)
c.523G>T (p.Gly175Trp)
c.3748G>T (p.Gly1250Trp)
c.3592G>T (p.Gly1198Trp)
c.-210G>T (n.-210G>T)
c.3604G>T (p.Gly1202Trp)
n.437G>T
c.3649G>T (p.Gly1217Trp)
c.3646G>T (p.Gly1216Trp)
c.3637G>T (p.Gly1213Trp)
c.3631G>T (p.Gly1211Trp)
c.3622G>T (p.Gly1208Trp)
c.3619G>T (p.Gly1207Trp)
c.3589G>T (p.Gly1197Trp)
c.3559G>T (p.Gly1187Trp)
c.2854G>T (p.Gly952Trp)
c.2809G>T (p.Gly937Trp)
c.2782G>T (p.Gly928Trp)
c.2689G>T (p.Gly897Trp)
c.3562G>T (p.Gly1188Trp)
c.3601G>T (p.Gly1201Trp)
c.3517G>T (p.Gly1173Trp)
c.3547G>T (p.Gly1183Trp)
c.3625G>T (p.Gly1209Trp)
c.3616G>T (p.Gly1206Trp)
c.3577G>T (p.Gly1193Trp)
c.3676G>T (p.Gly1226Trp)
c.3673G>T (p.Gly1225Trp)
c.3664G>T (p.Gly1222Trp)
c.3658G>T (p.Gly1220Trp)
c.3655G>T (p.Gly1219Trp)
c.3613G>T (p.Gly1205Trp)
c.3610G>T (p.Gly1204Trp)
c.2716G>T (p.Gly906Trp)
2g.50091413C>GCA346819136NRXN1c.3628G>C (p.Gly1210Arg)
n.795G>C
c.515G>C (n.515G>C)
c.523G>C (p.Gly175Arg)
c.3748G>C (p.Gly1250Arg)
c.3592G>C (p.Gly1198Arg)
c.-210G>C (n.-210G>C)
c.3604G>C (p.Gly1202Arg)
n.437G>C
c.3649G>C (p.Gly1217Arg)
c.3646G>C (p.Gly1216Arg)
c.3637G>C (p.Gly1213Arg)
c.3631G>C (p.Gly1211Arg)
c.3622G>C (p.Gly1208Arg)
c.3619G>C (p.Gly1207Arg)
c.3589G>C (p.Gly1197Arg)
c.3559G>C (p.Gly1187Arg)
c.2854G>C (p.Gly952Arg)
c.2809G>C (p.Gly937Arg)
c.2782G>C (p.Gly928Arg)
c.2689G>C (p.Gly897Arg)
c.3562G>C (p.Gly1188Arg)
c.3601G>C (p.Gly1201Arg)
c.3517G>C (p.Gly1173Arg)
c.3547G>C (p.Gly1183Arg)
c.3625G>C (p.Gly1209Arg)
c.3616G>C (p.Gly1206Arg)
c.3577G>C (p.Gly1193Arg)
c.3676G>C (p.Gly1226Arg)
c.3673G>C (p.Gly1225Arg)
c.3664G>C (p.Gly1222Arg)
c.3658G>C (p.Gly1220Arg)
c.3655G>C (p.Gly1219Arg)
c.3613G>C (p.Gly1205Arg)
c.3610G>C (p.Gly1204Arg)
c.2716G>C (p.Gly906Arg)
2g.50091413C>TCA346819137NRXN1c.3628G>A (p.Gly1210Arg)
n.795G>A
c.515G>A (n.515G>A)
c.523G>A (p.Gly175Arg)
c.3748G>A (p.Gly1250Arg)
c.3592G>A (p.Gly1198Arg)
c.-210G>A (n.-210G>A)
c.3604G>A (p.Gly1202Arg)
n.437G>A
c.3649G>A (p.Gly1217Arg)
c.3646G>A (p.Gly1216Arg)
c.3637G>A (p.Gly1213Arg)
c.3631G>A (p.Gly1211Arg)
c.3622G>A (p.Gly1208Arg)
c.3619G>A (p.Gly1207Arg)
c.3589G>A (p.Gly1197Arg)
c.3559G>A (p.Gly1187Arg)
c.2854G>A (p.Gly952Arg)
c.2809G>A (p.Gly937Arg)
c.2782G>A (p.Gly928Arg)
c.2689G>A (p.Gly897Arg)
c.3562G>A (p.Gly1188Arg)
c.3601G>A (p.Gly1201Arg)
c.3517G>A (p.Gly1173Arg)
c.3547G>A (p.Gly1183Arg)
c.3625G>A (p.Gly1209Arg)
c.3616G>A (p.Gly1206Arg)
c.3577G>A (p.Gly1193Arg)
c.3676G>A (p.Gly1226Arg)
c.3673G>A (p.Gly1225Arg)
c.3664G>A (p.Gly1222Arg)
c.3658G>A (p.Gly1220Arg)
c.3655G>A (p.Gly1219Arg)
c.3613G>A (p.Gly1205Arg)
c.3610G>A (p.Gly1204Arg)
c.2716G>A (p.Gly906Arg)
2g.50091414A=CA1249373438NRXN1c.3627T= (p.Asp1209=)
n.794T=
c.514T= (n.514T=)
c.522T= (p.Asp174=)
c.3747T= (p.Asp1249=)
c.3591T= (p.Asp1197=)
c.-211T= (n.-211T=)
c.3603T= (p.Asp1201=)
n.436T=
c.3648T= (p.Asp1216=)
c.3645T= (p.Asp1215=)
c.3636T= (p.Asp1212=)
c.3630T= (p.Asp1210=)
c.3621T= (p.Asp1207=)
c.3618T= (p.Asp1206=)
c.3588T= (p.Asp1196=)
c.3558T= (p.Asp1186=)
c.2853T= (p.Asp951=)
c.2808T= (p.Asp936=)
c.2781T= (p.Asp927=)
c.2688T= (p.Asp896=)
c.3561T= (p.Asp1187=)
c.3600T= (p.Asp1200=)
c.3516T= (p.Asp1172=)
c.3546T= (p.Asp1182=)
c.3624T= (p.Asp1208=)
c.3615T= (p.Asp1205=)
c.3576T= (p.Asp1192=)
c.3675T= (p.Asp1225=)
c.3672T= (p.Asp1224=)
c.3663T= (p.Asp1221=)
c.3657T= (p.Asp1219=)
c.3654T= (p.Asp1218=)
c.3612T= (p.Asp1204=)
c.3609T= (p.Asp1203=)
c.2715T= (p.Asp905=)
2g.50091414A>CCA346819138NRXN1c.3627T>G (p.Asp1209Glu)
n.794T>G
c.514T>G (n.514T>G)
c.522T>G (p.Asp174Glu)
c.3747T>G (p.Asp1249Glu)
c.3591T>G (p.Asp1197Glu)
c.-211T>G (n.-211T>G)
c.3603T>G (p.Asp1201Glu)
n.436T>G
c.3648T>G (p.Asp1216Glu)
c.3645T>G (p.Asp1215Glu)
c.3636T>G (p.Asp1212Glu)
c.3630T>G (p.Asp1210Glu)
c.3621T>G (p.Asp1207Glu)
c.3618T>G (p.Asp1206Glu)
c.3588T>G (p.Asp1196Glu)
c.3558T>G (p.Asp1186Glu)
c.2853T>G (p.Asp951Glu)
c.2808T>G (p.Asp936Glu)
c.2781T>G (p.Asp927Glu)
c.2688T>G (p.Asp896Glu)
c.3561T>G (p.Asp1187Glu)
c.3600T>G (p.Asp1200Glu)
c.3516T>G (p.Asp1172Glu)
c.3546T>G (p.Asp1182Glu)
c.3624T>G (p.Asp1208Glu)
c.3615T>G (p.Asp1205Glu)
c.3576T>G (p.Asp1192Glu)
c.3675T>G (p.Asp1225Glu)
c.3672T>G (p.Asp1224Glu)
c.3663T>G (p.Asp1221Glu)
c.3657T>G (p.Asp1219Glu)
c.3654T>G (p.Asp1218Glu)
c.3612T>G (p.Asp1204Glu)
c.3609T>G (p.Asp1203Glu)
c.2715T>G (p.Asp905Glu)
2g.50091414A>GCA426101615NRXN1c.3627T>C (p.Asp1209=)
n.794T>C
c.514T>C (n.514T>C)
c.522T>C (p.Asp174=)
c.3747T>C (p.Asp1249=)
c.3591T>C (p.Asp1197=)
c.-211T>C (n.-211T>C)
c.3603T>C (p.Asp1201=)
n.436T>C
c.3648T>C (p.Asp1216=)
c.3645T>C (p.Asp1215=)
c.3636T>C (p.Asp1212=)
c.3630T>C (p.Asp1210=)
c.3621T>C (p.Asp1207=)
c.3618T>C (p.Asp1206=)
c.3588T>C (p.Asp1196=)
c.3558T>C (p.Asp1186=)
c.2853T>C (p.Asp951=)
c.2808T>C (p.Asp936=)
c.2781T>C (p.Asp927=)
c.2688T>C (p.Asp896=)
c.3561T>C (p.Asp1187=)
c.3600T>C (p.Asp1200=)
c.3516T>C (p.Asp1172=)
c.3546T>C (p.Asp1182=)
c.3624T>C (p.Asp1208=)
c.3615T>C (p.Asp1205=)
c.3576T>C (p.Asp1192=)
c.3675T>C (p.Asp1225=)
c.3672T>C (p.Asp1224=)
c.3663T>C (p.Asp1221=)
c.3657T>C (p.Asp1219=)
c.3654T>C (p.Asp1218=)
c.3612T>C (p.Asp1204=)
c.3609T>C (p.Asp1203=)
c.2715T>C (p.Asp905=)
dbSNP gnomAD v4
2g.50091414A>TCA346819139NRXN1c.3627T>A (p.Asp1209Glu)
n.794T>A
c.514T>A (n.514T>A)
c.522T>A (p.Asp174Glu)
c.3747T>A (p.Asp1249Glu)
c.3591T>A (p.Asp1197Glu)
c.-211T>A (n.-211T>A)
c.3603T>A (p.Asp1201Glu)
n.436T>A
c.3648T>A (p.Asp1216Glu)
c.3645T>A (p.Asp1215Glu)
c.3636T>A (p.Asp1212Glu)
c.3630T>A (p.Asp1210Glu)
c.3621T>A (p.Asp1207Glu)
c.3618T>A (p.Asp1206Glu)
c.3588T>A (p.Asp1196Glu)
c.3558T>A (p.Asp1186Glu)
c.2853T>A (p.Asp951Glu)
c.2808T>A (p.Asp936Glu)
c.2781T>A (p.Asp927Glu)
c.2688T>A (p.Asp896Glu)
c.3561T>A (p.Asp1187Glu)
c.3600T>A (p.Asp1200Glu)
c.3516T>A (p.Asp1172Glu)
c.3546T>A (p.Asp1182Glu)
c.3624T>A (p.Asp1208Glu)
c.3615T>A (p.Asp1205Glu)
c.3576T>A (p.Asp1192Glu)
c.3675T>A (p.Asp1225Glu)
c.3672T>A (p.Asp1224Glu)
c.3663T>A (p.Asp1221Glu)
c.3657T>A (p.Asp1219Glu)
c.3654T>A (p.Asp1218Glu)
c.3612T>A (p.Asp1204Glu)
c.3609T>A (p.Asp1203Glu)
c.2715T>A (p.Asp905Glu)
2g.50091415T>ACA346819140NRXN1c.3626A>T (p.Asp1209Val)
n.793A>T
c.513A>T (n.513A>T)
c.521A>T (p.Asp174Val)
c.3746A>T (p.Asp1249Val)
c.3590A>T (p.Asp1197Val)
c.-212A>T (n.-212A>T)
c.3602A>T (p.Asp1201Val)
n.435A>T
c.3647A>T (p.Asp1216Val)
c.3644A>T (p.Asp1215Val)
c.3635A>T (p.Asp1212Val)
c.3629A>T (p.Asp1210Val)
c.3620A>T (p.Asp1207Val)
c.3617A>T (p.Asp1206Val)
c.3587A>T (p.Asp1196Val)
c.3557A>T (p.Asp1186Val)
c.2852A>T (p.Asp951Val)
c.2807A>T (p.Asp936Val)
c.2780A>T (p.Asp927Val)
c.2687A>T (p.Asp896Val)
c.3560A>T (p.Asp1187Val)
c.3599A>T (p.Asp1200Val)
c.3515A>T (p.Asp1172Val)
c.3545A>T (p.Asp1182Val)
c.3623A>T (p.Asp1208Val)
c.3614A>T (p.Asp1205Val)
c.3575A>T (p.Asp1192Val)
c.3674A>T (p.Asp1225Val)
c.3671A>T (p.Asp1224Val)
c.3662A>T (p.Asp1221Val)
c.3656A>T (p.Asp1219Val)
c.3653A>T (p.Asp1218Val)
c.3611A>T (p.Asp1204Val)
c.3608A>T (p.Asp1203Val)
c.2714A>T (p.Asp905Val)
dbSNP gnomAD v2 gnomAD v4
2g.50091415T>CCA346819141NRXN1c.3626A>G (p.Asp1209Gly)
n.793A>G
c.513A>G (n.513A>G)
c.521A>G (p.Asp174Gly)
c.3746A>G (p.Asp1249Gly)
c.3590A>G (p.Asp1197Gly)
c.-212A>G (n.-212A>G)
c.3602A>G (p.Asp1201Gly)
n.435A>G
c.3647A>G (p.Asp1216Gly)
c.3644A>G (p.Asp1215Gly)
c.3635A>G (p.Asp1212Gly)
c.3629A>G (p.Asp1210Gly)
c.3620A>G (p.Asp1207Gly)
c.3617A>G (p.Asp1206Gly)
c.3587A>G (p.Asp1196Gly)
c.3557A>G (p.Asp1186Gly)
c.2852A>G (p.Asp951Gly)
c.2807A>G (p.Asp936Gly)
c.2780A>G (p.Asp927Gly)
c.2687A>G (p.Asp896Gly)
c.3560A>G (p.Asp1187Gly)
c.3599A>G (p.Asp1200Gly)
c.3515A>G (p.Asp1172Gly)
c.3545A>G (p.Asp1182Gly)
c.3623A>G (p.Asp1208Gly)
c.3614A>G (p.Asp1205Gly)
c.3575A>G (p.Asp1192Gly)
c.3674A>G (p.Asp1225Gly)
c.3671A>G (p.Asp1224Gly)
c.3662A>G (p.Asp1221Gly)
c.3656A>G (p.Asp1219Gly)
c.3653A>G (p.Asp1218Gly)
c.3611A>G (p.Asp1204Gly)
c.3608A>G (p.Asp1203Gly)
c.2714A>G (p.Asp905Gly)
2g.50091415T>GCA346819142NRXN1c.3626A>C (p.Asp1209Ala)
n.793A>C
c.513A>C (n.513A>C)
c.521A>C (p.Asp174Ala)
c.3746A>C (p.Asp1249Ala)
c.3590A>C (p.Asp1197Ala)
c.-212A>C (n.-212A>C)
c.3602A>C (p.Asp1201Ala)
n.435A>C
c.3647A>C (p.Asp1216Ala)
c.3644A>C (p.Asp1215Ala)
c.3635A>C (p.Asp1212Ala)
c.3629A>C (p.Asp1210Ala)
c.3620A>C (p.Asp1207Ala)
c.3617A>C (p.Asp1206Ala)
c.3587A>C (p.Asp1196Ala)
c.3557A>C (p.Asp1186Ala)
c.2852A>C (p.Asp951Ala)
c.2807A>C (p.Asp936Ala)
c.2780A>C (p.Asp927Ala)
c.2687A>C (p.Asp896Ala)
c.3560A>C (p.Asp1187Ala)
c.3599A>C (p.Asp1200Ala)
c.3515A>C (p.Asp1172Ala)
c.3545A>C (p.Asp1182Ala)
c.3623A>C (p.Asp1208Ala)
c.3614A>C (p.Asp1205Ala)
c.3575A>C (p.Asp1192Ala)
c.3674A>C (p.Asp1225Ala)
c.3671A>C (p.Asp1224Ala)
c.3662A>C (p.Asp1221Ala)
c.3656A>C (p.Asp1219Ala)
c.3653A>C (p.Asp1218Ala)
c.3611A>C (p.Asp1204Ala)
c.3608A>C (p.Asp1203Ala)
c.2714A>C (p.Asp905Ala)
2g.50091415T=CA1249373439NRXN1c.3626A= (p.Asp1209=)
n.793A=
c.513A= (n.513A=)
c.521A= (p.Asp174=)
c.3746A= (p.Asp1249=)
c.3590A= (p.Asp1197=)
c.-212A= (n.-212A=)
c.3602A= (p.Asp1201=)
n.435A=
c.3647A= (p.Asp1216=)
c.3644A= (p.Asp1215=)
c.3635A= (p.Asp1212=)
c.3629A= (p.Asp1210=)
c.3620A= (p.Asp1207=)
c.3617A= (p.Asp1206=)
c.3587A= (p.Asp1196=)
c.3557A= (p.Asp1186=)
c.2852A= (p.Asp951=)
c.2807A= (p.Asp936=)
c.2780A= (p.Asp927=)
c.2687A= (p.Asp896=)
c.3560A= (p.Asp1187=)
c.3599A= (p.Asp1200=)
c.3515A= (p.Asp1172=)
c.3545A= (p.Asp1182=)
c.3623A= (p.Asp1208=)
c.3614A= (p.Asp1205=)
c.3575A= (p.Asp1192=)
c.3674A= (p.Asp1225=)
c.3671A= (p.Asp1224=)
c.3662A= (p.Asp1221=)
c.3656A= (p.Asp1219=)
c.3653A= (p.Asp1218=)
c.3611A= (p.Asp1204=)
c.3608A= (p.Asp1203=)
c.2714A= (p.Asp905=)
2g.50091416delCA2573051992NRXN1c.3625del (p.Asp1209MetfsTer6)
n.792del
c.512del (n.512del)
c.520del (p.Asp174MetfsTer6)
c.3745del (p.Asp1249MetfsTer6)
c.3589del (p.Asp1197MetfsTer6)
c.-213del (n.-213del)
c.3601del (p.Asp1201MetfsTer6)
n.434del
c.3646del (p.Asp1216MetfsTer6)
c.3643del (p.Asp1215MetfsTer6)
c.3634del (p.Asp1212MetfsTer6)
c.3628del (p.Asp1210MetfsTer6)
c.3619del (p.Asp1207MetfsTer6)
c.3616del (p.Asp1206MetfsTer6)
c.3586del (p.Asp1196MetfsTer6)
c.3556del (p.Asp1186MetfsTer6)
c.2851del (p.Asp951MetfsTer6)
c.2806del (p.Asp936MetfsTer6)
c.2779del (p.Asp927MetfsTer6)
c.2686del (p.Asp896MetfsTer6)
c.3559del (p.Asp1187MetfsTer6)
c.3598del (p.Asp1200MetfsTer6)
c.3514del (p.Asp1172MetfsTer6)
c.3544del (p.Asp1182MetfsTer6)
c.3622del (p.Asp1208MetfsTer6)
c.3613del (p.Asp1205MetfsTer6)
c.3574del (p.Asp1192MetfsTer6)
c.3673del (p.Asp1225MetfsTer6)
c.3670del (p.Asp1224MetfsTer6)
c.3661del (p.Asp1221MetfsTer6)
c.3655del (p.Asp1219MetfsTer6)
c.3652del (p.Asp1218MetfsTer6)
c.3610del (p.Asp1204MetfsTer6)
c.3607del (p.Asp1203MetfsTer6)
c.2713del (p.Asp905MetfsTer6)
ClinVar dbSNP
2g.50091416C>ACA346819143NRXN1c.3625G>T (p.Asp1209Tyr)
n.792G>T
c.512G>T (n.512G>T)
c.520G>T (p.Asp174Tyr)
c.3745G>T (p.Asp1249Tyr)
c.3589G>T (p.Asp1197Tyr)
c.-213G>T (n.-213G>T)
c.3601G>T (p.Asp1201Tyr)
n.434G>T
c.3646G>T (p.Asp1216Tyr)
c.3643G>T (p.Asp1215Tyr)
c.3634G>T (p.Asp1212Tyr)
c.3628G>T (p.Asp1210Tyr)
c.3619G>T (p.Asp1207Tyr)
c.3616G>T (p.Asp1206Tyr)
c.3586G>T (p.Asp1196Tyr)
c.3556G>T (p.Asp1186Tyr)
c.2851G>T (p.Asp951Tyr)
c.2806G>T (p.Asp936Tyr)
c.2779G>T (p.Asp927Tyr)
c.2686G>T (p.Asp896Tyr)
c.3559G>T (p.Asp1187Tyr)
c.3598G>T (p.Asp1200Tyr)
c.3514G>T (p.Asp1172Tyr)
c.3544G>T (p.Asp1182Tyr)
c.3622G>T (p.Asp1208Tyr)
c.3613G>T (p.Asp1205Tyr)
c.3574G>T (p.Asp1192Tyr)
c.3673G>T (p.Asp1225Tyr)
c.3670G>T (p.Asp1224Tyr)
c.3661G>T (p.Asp1221Tyr)
c.3655G>T (p.Asp1219Tyr)
c.3652G>T (p.Asp1218Tyr)
c.3610G>T (p.Asp1204Tyr)
c.3607G>T (p.Asp1203Tyr)
c.2713G>T (p.Asp905Tyr)
2g.50091416C>GCA346819144NRXN1c.3625G>C (p.Asp1209His)
n.792G>C
c.512G>C (n.512G>C)
c.520G>C (p.Asp174His)
c.3745G>C (p.Asp1249His)
c.3589G>C (p.Asp1197His)
c.-213G>C (n.-213G>C)
c.3601G>C (p.Asp1201His)
n.434G>C
c.3646G>C (p.Asp1216His)
c.3643G>C (p.Asp1215His)
c.3634G>C (p.Asp1212His)
c.3628G>C (p.Asp1210His)
c.3619G>C (p.Asp1207His)
c.3616G>C (p.Asp1206His)
c.3586G>C (p.Asp1196His)
c.3556G>C (p.Asp1186His)
c.2851G>C (p.Asp951His)
c.2806G>C (p.Asp936His)
c.2779G>C (p.Asp927His)
c.2686G>C (p.Asp896His)
c.3559G>C (p.Asp1187His)
c.3598G>C (p.Asp1200His)
c.3514G>C (p.Asp1172His)
c.3544G>C (p.Asp1182His)
c.3622G>C (p.Asp1208His)
c.3613G>C (p.Asp1205His)
c.3574G>C (p.Asp1192His)
c.3673G>C (p.Asp1225His)
c.3670G>C (p.Asp1224His)
c.3661G>C (p.Asp1221His)
c.3655G>C (p.Asp1219His)
c.3652G>C (p.Asp1218His)
c.3610G>C (p.Asp1204His)
c.3607G>C (p.Asp1203His)
c.2713G>C (p.Asp905His)
2g.50091416C>TCA346819145NRXN1c.3625G>A (p.Asp1209Asn)
n.792G>A
c.512G>A (n.512G>A)
c.520G>A (p.Asp174Asn)
c.3745G>A (p.Asp1249Asn)
c.3589G>A (p.Asp1197Asn)
c.-213G>A (n.-213G>A)
c.3601G>A (p.Asp1201Asn)
n.434G>A
c.3646G>A (p.Asp1216Asn)
c.3643G>A (p.Asp1215Asn)
c.3634G>A (p.Asp1212Asn)
c.3628G>A (p.Asp1210Asn)
c.3619G>A (p.Asp1207Asn)
c.3616G>A (p.Asp1206Asn)
c.3586G>A (p.Asp1196Asn)
c.3556G>A (p.Asp1186Asn)
c.2851G>A (p.Asp951Asn)
c.2806G>A (p.Asp936Asn)
c.2779G>A (p.Asp927Asn)
c.2686G>A (p.Asp896Asn)
c.3559G>A (p.Asp1187Asn)
c.3598G>A (p.Asp1200Asn)
c.3514G>A (p.Asp1172Asn)
c.3544G>A (p.Asp1182Asn)
c.3622G>A (p.Asp1208Asn)
c.3613G>A (p.Asp1205Asn)
c.3574G>A (p.Asp1192Asn)
c.3673G>A (p.Asp1225Asn)
c.3670G>A (p.Asp1224Asn)
c.3661G>A (p.Asp1221Asn)
c.3655G>A (p.Asp1219Asn)
c.3652G>A (p.Asp1218Asn)
c.3610G>A (p.Asp1204Asn)
c.3607G>A (p.Asp1203Asn)
c.2713G>A (p.Asp905Asn)
2g.50091417A=CA1249373440NRXN1c.3624T= (p.Asn1208=)
n.791T=
c.511T= (n.511T=)
c.519T= (p.Asn173=)
c.3744T= (p.Asn1248=)
c.3588T= (p.Asn1196=)
c.-214T= (n.-214T=)
c.3600T= (p.Asn1200=)
n.433T=
c.3645T= (p.Asn1215=)
c.3642T= (p.Asn1214=)
c.3633T= (p.Asn1211=)
c.3627T= (p.Asn1209=)
c.3618T= (p.Asn1206=)
c.3615T= (p.Asn1205=)
c.3585T= (p.Asn1195=)
c.3555T= (p.Asn1185=)
c.2850T= (p.Asn950=)
c.2805T= (p.Asn935=)
c.2778T= (p.Asn926=)
c.2685T= (p.Asn895=)
c.3558T= (p.Asn1186=)
c.3597T= (p.Asn1199=)
c.3513T= (p.Asn1171=)
c.3543T= (p.Asn1181=)
c.3621T= (p.Asn1207=)
c.3612T= (p.Asn1204=)
c.3573T= (p.Asn1191=)
c.3672T= (p.Asn1224=)
c.3669T= (p.Asn1223=)
c.3660T= (p.Asn1220=)
c.3654T= (p.Asn1218=)
c.3651T= (p.Asn1217=)
c.3609T= (p.Asn1203=)
c.3606T= (p.Asn1202=)
c.2712T= (p.Asn904=)
2g.50091417A>CCA346819146NRXN1c.3624T>G (p.Asn1208Lys)
n.791T>G
c.511T>G (n.511T>G)
c.519T>G (p.Asn173Lys)
c.3744T>G (p.Asn1248Lys)
c.3588T>G (p.Asn1196Lys)
c.-214T>G (n.-214T>G)
c.3600T>G (p.Asn1200Lys)
n.433T>G
c.3645T>G (p.Asn1215Lys)
c.3642T>G (p.Asn1214Lys)
c.3633T>G (p.Asn1211Lys)
c.3627T>G (p.Asn1209Lys)
c.3618T>G (p.Asn1206Lys)
c.3615T>G (p.Asn1205Lys)
c.3585T>G (p.Asn1195Lys)
c.3555T>G (p.Asn1185Lys)
c.2850T>G (p.Asn950Lys)
c.2805T>G (p.Asn935Lys)
c.2778T>G (p.Asn926Lys)
c.2685T>G (p.Asn895Lys)
c.3558T>G (p.Asn1186Lys)
c.3597T>G (p.Asn1199Lys)
c.3513T>G (p.Asn1171Lys)
c.3543T>G (p.Asn1181Lys)
c.3621T>G (p.Asn1207Lys)
c.3612T>G (p.Asn1204Lys)
c.3573T>G (p.Asn1191Lys)
c.3672T>G (p.Asn1224Lys)
c.3669T>G (p.Asn1223Lys)
c.3660T>G (p.Asn1220Lys)
c.3654T>G (p.Asn1218Lys)
c.3651T>G (p.Asn1217Lys)
c.3609T>G (p.Asn1203Lys)
c.3606T>G (p.Asn1202Lys)
c.2712T>G (p.Asn904Lys)
2g.50091417A>GCA426101618NRXN1c.3624T>C (p.Asn1208=)
n.791T>C
c.511T>C (n.511T>C)
c.519T>C (p.Asn173=)
c.3744T>C (p.Asn1248=)
c.3588T>C (p.Asn1196=)
c.-214T>C (n.-214T>C)
c.3600T>C (p.Asn1200=)
n.433T>C
c.3645T>C (p.Asn1215=)
c.3642T>C (p.Asn1214=)
c.3633T>C (p.Asn1211=)
c.3627T>C (p.Asn1209=)
c.3618T>C (p.Asn1206=)
c.3615T>C (p.Asn1205=)
c.3585T>C (p.Asn1195=)
c.3555T>C (p.Asn1185=)
c.2850T>C (p.Asn950=)
c.2805T>C (p.Asn935=)
c.2778T>C (p.Asn926=)
c.2685T>C (p.Asn895=)
c.3558T>C (p.Asn1186=)
c.3597T>C (p.Asn1199=)
c.3513T>C (p.Asn1171=)
c.3543T>C (p.Asn1181=)
c.3621T>C (p.Asn1207=)
c.3612T>C (p.Asn1204=)
c.3573T>C (p.Asn1191=)
c.3672T>C (p.Asn1224=)
c.3669T>C (p.Asn1223=)
c.3660T>C (p.Asn1220=)
c.3654T>C (p.Asn1218=)
c.3651T>C (p.Asn1217=)
c.3609T>C (p.Asn1203=)
c.3606T>C (p.Asn1202=)
c.2712T>C (p.Asn904=)
dbSNP gnomAD v2 gnomAD v4
2g.50091417A>TCA346819147NRXN1c.3624T>A (p.Asn1208Lys)
n.791T>A
c.511T>A (n.511T>A)
c.519T>A (p.Asn173Lys)
c.3744T>A (p.Asn1248Lys)
c.3588T>A (p.Asn1196Lys)
c.-214T>A (n.-214T>A)
c.3600T>A (p.Asn1200Lys)
n.433T>A
c.3645T>A (p.Asn1215Lys)
c.3642T>A (p.Asn1214Lys)
c.3633T>A (p.Asn1211Lys)
c.3627T>A (p.Asn1209Lys)
c.3618T>A (p.Asn1206Lys)
c.3615T>A (p.Asn1205Lys)
c.3585T>A (p.Asn1195Lys)
c.3555T>A (p.Asn1185Lys)
c.2850T>A (p.Asn950Lys)
c.2805T>A (p.Asn935Lys)
c.2778T>A (p.Asn926Lys)
c.2685T>A (p.Asn895Lys)
c.3558T>A (p.Asn1186Lys)
c.3597T>A (p.Asn1199Lys)
c.3513T>A (p.Asn1171Lys)
c.3543T>A (p.Asn1181Lys)
c.3621T>A (p.Asn1207Lys)
c.3612T>A (p.Asn1204Lys)
c.3573T>A (p.Asn1191Lys)
c.3672T>A (p.Asn1224Lys)
c.3669T>A (p.Asn1223Lys)
c.3660T>A (p.Asn1220Lys)
c.3654T>A (p.Asn1218Lys)
c.3651T>A (p.Asn1217Lys)
c.3609T>A (p.Asn1203Lys)
c.3606T>A (p.Asn1202Lys)
c.2712T>A (p.Asn904Lys)
2g.50091418T>ACA346819148NRXN1c.3623A>T (p.Asn1208Ile)
n.790A>T
c.510A>T (n.510A>T)
c.518A>T (p.Asn173Ile)
c.3743A>T (p.Asn1248Ile)
c.3587A>T (p.Asn1196Ile)
c.-215A>T (n.-215A>T)
c.3599A>T (p.Asn1200Ile)
n.432A>T
c.3644A>T (p.Asn1215Ile)
c.3641A>T (p.Asn1214Ile)
c.3632A>T (p.Asn1211Ile)
c.3626A>T (p.Asn1209Ile)
c.3617A>T (p.Asn1206Ile)
c.3614A>T (p.Asn1205Ile)
c.3584A>T (p.Asn1195Ile)
c.3554A>T (p.Asn1185Ile)
c.2849A>T (p.Asn950Ile)
c.2804A>T (p.Asn935Ile)
c.2777A>T (p.Asn926Ile)
c.2684A>T (p.Asn895Ile)
c.3557A>T (p.Asn1186Ile)
c.3596A>T (p.Asn1199Ile)
c.3512A>T (p.Asn1171Ile)
c.3542A>T (p.Asn1181Ile)
c.3620A>T (p.Asn1207Ile)
c.3611A>T (p.Asn1204Ile)
c.3572A>T (p.Asn1191Ile)
c.3671A>T (p.Asn1224Ile)
c.3668A>T (p.Asn1223Ile)
c.3659A>T (p.Asn1220Ile)
c.3653A>T (p.Asn1218Ile)
c.3650A>T (p.Asn1217Ile)
c.3608A>T (p.Asn1203Ile)
c.3605A>T (p.Asn1202Ile)
c.2711A>T (p.Asn904Ile)
2g.50091418T>CCA346819149NRXN1c.3623A>G (p.Asn1208Ser)
n.790A>G
c.510A>G (n.510A>G)
c.518A>G (p.Asn173Ser)
c.3743A>G (p.Asn1248Ser)
c.3587A>G (p.Asn1196Ser)
c.-215A>G (n.-215A>G)
c.3599A>G (p.Asn1200Ser)
n.432A>G
c.3644A>G (p.Asn1215Ser)
c.3641A>G (p.Asn1214Ser)
c.3632A>G (p.Asn1211Ser)
c.3626A>G (p.Asn1209Ser)
c.3617A>G (p.Asn1206Ser)
c.3614A>G (p.Asn1205Ser)
c.3584A>G (p.Asn1195Ser)
c.3554A>G (p.Asn1185Ser)
c.2849A>G (p.Asn950Ser)
c.2804A>G (p.Asn935Ser)
c.2777A>G (p.Asn926Ser)
c.2684A>G (p.Asn895Ser)
c.3557A>G (p.Asn1186Ser)
c.3596A>G (p.Asn1199Ser)
c.3512A>G (p.Asn1171Ser)
c.3542A>G (p.Asn1181Ser)
c.3620A>G (p.Asn1207Ser)
c.3611A>G (p.Asn1204Ser)
c.3572A>G (p.Asn1191Ser)
c.3671A>G (p.Asn1224Ser)
c.3668A>G (p.Asn1223Ser)
c.3659A>G (p.Asn1220Ser)
c.3653A>G (p.Asn1218Ser)
c.3650A>G (p.Asn1217Ser)
c.3608A>G (p.Asn1203Ser)
c.3605A>G (p.Asn1202Ser)
c.2711A>G (p.Asn904Ser)
ClinVar
2g.50091418T>GCA346819150NRXN1c.3623A>C (p.Asn1208Thr)
n.790A>C
c.510A>C (n.510A>C)
c.518A>C (p.Asn173Thr)
c.3743A>C (p.Asn1248Thr)
c.3587A>C (p.Asn1196Thr)
c.-215A>C (n.-215A>C)
c.3599A>C (p.Asn1200Thr)
n.432A>C
c.3644A>C (p.Asn1215Thr)
c.3641A>C (p.Asn1214Thr)
c.3632A>C (p.Asn1211Thr)
c.3626A>C (p.Asn1209Thr)
c.3617A>C (p.Asn1206Thr)
c.3614A>C (p.Asn1205Thr)
c.3584A>C (p.Asn1195Thr)
c.3554A>C (p.Asn1185Thr)
c.2849A>C (p.Asn950Thr)
c.2804A>C (p.Asn935Thr)
c.2777A>C (p.Asn926Thr)
c.2684A>C (p.Asn895Thr)
c.3557A>C (p.Asn1186Thr)
c.3596A>C (p.Asn1199Thr)
c.3512A>C (p.Asn1171Thr)
c.3542A>C (p.Asn1181Thr)
c.3620A>C (p.Asn1207Thr)
c.3611A>C (p.Asn1204Thr)
c.3572A>C (p.Asn1191Thr)
c.3671A>C (p.Asn1224Thr)
c.3668A>C (p.Asn1223Thr)
c.3659A>C (p.Asn1220Thr)
c.3653A>C (p.Asn1218Thr)
c.3650A>C (p.Asn1217Thr)
c.3608A>C (p.Asn1203Thr)
c.3605A>C (p.Asn1202Thr)
c.2711A>C (p.Asn904Thr)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.50091419T>ACA346819151NRXN1c.3622A>T (p.Asn1208Tyr)
n.789A>T
c.509A>T (n.509A>T)
c.517A>T (p.Asn173Tyr)
c.3742A>T (p.Asn1248Tyr)
c.3586A>T (p.Asn1196Tyr)
c.-216A>T (n.-216A>T)
c.3598A>T (p.Asn1200Tyr)
n.431A>T
c.3643A>T (p.Asn1215Tyr)
c.3640A>T (p.Asn1214Tyr)
c.3631A>T (p.Asn1211Tyr)
c.3625A>T (p.Asn1209Tyr)
c.3616A>T (p.Asn1206Tyr)
c.3613A>T (p.Asn1205Tyr)
c.3583A>T (p.Asn1195Tyr)
c.3553A>T (p.Asn1185Tyr)
c.2848A>T (p.Asn950Tyr)
c.2803A>T (p.Asn935Tyr)
c.2776A>T (p.Asn926Tyr)
c.2683A>T (p.Asn895Tyr)
c.3556A>T (p.Asn1186Tyr)
c.3595A>T (p.Asn1199Tyr)
c.3511A>T (p.Asn1171Tyr)
c.3541A>T (p.Asn1181Tyr)
c.3619A>T (p.Asn1207Tyr)
c.3610A>T (p.Asn1204Tyr)
c.3571A>T (p.Asn1191Tyr)
c.3670A>T (p.Asn1224Tyr)
c.3667A>T (p.Asn1223Tyr)
c.3658A>T (p.Asn1220Tyr)
c.3652A>T (p.Asn1218Tyr)
c.3649A>T (p.Asn1217Tyr)
c.3607A>T (p.Asn1203Tyr)
c.3604A>T (p.Asn1202Tyr)
c.2710A>T (p.Asn904Tyr)
2g.50091419T>CCA346819152NRXN1c.3622A>G (p.Asn1208Asp)
n.789A>G
c.509A>G (n.509A>G)
c.517A>G (p.Asn173Asp)
c.3742A>G (p.Asn1248Asp)
c.3586A>G (p.Asn1196Asp)
c.-216A>G (n.-216A>G)
c.3598A>G (p.Asn1200Asp)
n.431A>G
c.3643A>G (p.Asn1215Asp)
c.3640A>G (p.Asn1214Asp)
c.3631A>G (p.Asn1211Asp)
c.3625A>G (p.Asn1209Asp)
c.3616A>G (p.Asn1206Asp)
c.3613A>G (p.Asn1205Asp)
c.3583A>G (p.Asn1195Asp)
c.3553A>G (p.Asn1185Asp)
c.2848A>G (p.Asn950Asp)
c.2803A>G (p.Asn935Asp)
c.2776A>G (p.Asn926Asp)
c.2683A>G (p.Asn895Asp)
c.3556A>G (p.Asn1186Asp)
c.3595A>G (p.Asn1199Asp)
c.3511A>G (p.Asn1171Asp)
c.3541A>G (p.Asn1181Asp)
c.3619A>G (p.Asn1207Asp)
c.3610A>G (p.Asn1204Asp)
c.3571A>G (p.Asn1191Asp)
c.3670A>G (p.Asn1224Asp)
c.3667A>G (p.Asn1223Asp)
c.3658A>G (p.Asn1220Asp)
c.3652A>G (p.Asn1218Asp)
c.3649A>G (p.Asn1217Asp)
c.3607A>G (p.Asn1203Asp)
c.3604A>G (p.Asn1202Asp)
c.2710A>G (p.Asn904Asp)
ClinVar gnomAD v4
2g.50091419T>GCA346819153NRXN1c.3622A>C (p.Asn1208His)
n.789A>C
c.509A>C (n.509A>C)
c.517A>C (p.Asn173His)
c.3742A>C (p.Asn1248His)
c.3586A>C (p.Asn1196His)
c.-216A>C (n.-216A>C)
c.3598A>C (p.Asn1200His)
n.431A>C
c.3643A>C (p.Asn1215His)
c.3640A>C (p.Asn1214His)
c.3631A>C (p.Asn1211His)
c.3625A>C (p.Asn1209His)
c.3616A>C (p.Asn1206His)
c.3613A>C (p.Asn1205His)
c.3583A>C (p.Asn1195His)
c.3553A>C (p.Asn1185His)
c.2848A>C (p.Asn950His)
c.2803A>C (p.Asn935His)
c.2776A>C (p.Asn926His)
c.2683A>C (p.Asn895His)
c.3556A>C (p.Asn1186His)
c.3595A>C (p.Asn1199His)
c.3511A>C (p.Asn1171His)
c.3541A>C (p.Asn1181His)
c.3619A>C (p.Asn1207His)
c.3610A>C (p.Asn1204His)
c.3571A>C (p.Asn1191His)
c.3670A>C (p.Asn1224His)
c.3667A>C (p.Asn1223His)
c.3658A>C (p.Asn1220His)
c.3652A>C (p.Asn1218His)
c.3649A>C (p.Asn1217His)
c.3607A>C (p.Asn1203His)
c.3604A>C (p.Asn1202His)
c.2710A>C (p.Asn904His)
2g.50091420A>CCA346819154NRXN1c.3621T>G (p.Ile1207Met)
n.788T>G
c.508T>G (n.508T>G)
c.516T>G (p.Ile172Met)
c.3741T>G (p.Ile1247Met)
c.3585T>G (p.Ile1195Met)
c.-217T>G (n.-217T>G)
c.3597T>G (p.Ile1199Met)
n.430T>G
c.3642T>G (p.Ile1214Met)
c.3639T>G (p.Ile1213Met)
c.3630T>G (p.Ile1210Met)
c.3624T>G (p.Ile1208Met)
c.3615T>G (p.Ile1205Met)
c.3612T>G (p.Ile1204Met)
c.3582T>G (p.Ile1194Met)
c.3552T>G (p.Ile1184Met)
c.2847T>G (p.Ile949Met)
c.2802T>G (p.Ile934Met)
c.2775T>G (p.Ile925Met)
c.2682T>G (p.Ile894Met)
c.3555T>G (p.Ile1185Met)
c.3594T>G (p.Ile1198Met)
c.3510T>G (p.Ile1170Met)
c.3540T>G (p.Ile1180Met)
c.3618T>G (p.Ile1206Met)
c.3609T>G (p.Ile1203Met)
c.3570T>G (p.Ile1190Met)
c.3669T>G (p.Ile1223Met)
c.3666T>G (p.Ile1222Met)
c.3657T>G (p.Ile1219Met)
c.3651T>G (p.Ile1217Met)
c.3648T>G (p.Ile1216Met)
c.3606T>G (p.Ile1202Met)
c.3603T>G (p.Ile1201Met)
c.2709T>G (p.Ile903Met)
2g.50091420A>GCA426101622NRXN1c.3621T>C (p.Ile1207=)
n.788T>C
c.508T>C (n.508T>C)
c.516T>C (p.Ile172=)
c.3741T>C (p.Ile1247=)
c.3585T>C (p.Ile1195=)
c.-217T>C (n.-217T>C)
c.3597T>C (p.Ile1199=)
n.430T>C
c.3642T>C (p.Ile1214=)
c.3639T>C (p.Ile1213=)
c.3630T>C (p.Ile1210=)
c.3624T>C (p.Ile1208=)
c.3615T>C (p.Ile1205=)
c.3612T>C (p.Ile1204=)
c.3582T>C (p.Ile1194=)
c.3552T>C (p.Ile1184=)
c.2847T>C (p.Ile949=)
c.2802T>C (p.Ile934=)
c.2775T>C (p.Ile925=)
c.2682T>C (p.Ile894=)
c.3555T>C (p.Ile1185=)
c.3594T>C (p.Ile1198=)
c.3510T>C (p.Ile1170=)
c.3540T>C (p.Ile1180=)
c.3618T>C (p.Ile1206=)
c.3609T>C (p.Ile1203=)
c.3570T>C (p.Ile1190=)
c.3669T>C (p.Ile1223=)
c.3666T>C (p.Ile1222=)
c.3657T>C (p.Ile1219=)
c.3651T>C (p.Ile1217=)
c.3648T>C (p.Ile1216=)
c.3606T>C (p.Ile1202=)
c.3603T>C (p.Ile1201=)
c.2709T>C (p.Ile903=)
2g.50091420A>TCA426101623NRXN1c.3621T>A (p.Ile1207=)
n.788T>A
c.508T>A (n.508T>A)
c.516T>A (p.Ile172=)
c.3741T>A (p.Ile1247=)
c.3585T>A (p.Ile1195=)
c.-217T>A (n.-217T>A)
c.3597T>A (p.Ile1199=)
n.430T>A
c.3642T>A (p.Ile1214=)
c.3639T>A (p.Ile1213=)
c.3630T>A (p.Ile1210=)
c.3624T>A (p.Ile1208=)
c.3615T>A (p.Ile1205=)
c.3612T>A (p.Ile1204=)
c.3582T>A (p.Ile1194=)
c.3552T>A (p.Ile1184=)
c.2847T>A (p.Ile949=)
c.2802T>A (p.Ile934=)
c.2775T>A (p.Ile925=)
c.2682T>A (p.Ile894=)
c.3555T>A (p.Ile1185=)
c.3594T>A (p.Ile1198=)
c.3510T>A (p.Ile1170=)
c.3540T>A (p.Ile1180=)
c.3618T>A (p.Ile1206=)
c.3609T>A (p.Ile1203=)
c.3570T>A (p.Ile1190=)
c.3669T>A (p.Ile1223=)
c.3666T>A (p.Ile1222=)
c.3657T>A (p.Ile1219=)
c.3651T>A (p.Ile1217=)
c.3648T>A (p.Ile1216=)
c.3606T>A (p.Ile1202=)
c.3603T>A (p.Ile1201=)
c.2709T>A (p.Ile903=)
2g.50091421A>CCA346819155NRXN1c.3620T>G (p.Ile1207Ser)
n.787T>G
c.507T>G (n.507T>G)
c.515T>G (p.Ile172Ser)
c.3740T>G (p.Ile1247Ser)
c.3584T>G (p.Ile1195Ser)
c.-218T>G (n.-218T>G)
c.3596T>G (p.Ile1199Ser)
n.429T>G
c.3641T>G (p.Ile1214Ser)
c.3638T>G (p.Ile1213Ser)
c.3629T>G (p.Ile1210Ser)
c.3623T>G (p.Ile1208Ser)
c.3614T>G (p.Ile1205Ser)
c.3611T>G (p.Ile1204Ser)
c.3581T>G (p.Ile1194Ser)
c.3551T>G (p.Ile1184Ser)
c.2846T>G (p.Ile949Ser)
c.2801T>G (p.Ile934Ser)
c.2774T>G (p.Ile925Ser)
c.2681T>G (p.Ile894Ser)
c.3554T>G (p.Ile1185Ser)
c.3593T>G (p.Ile1198Ser)
c.3509T>G (p.Ile1170Ser)
c.3539T>G (p.Ile1180Ser)
c.3617T>G (p.Ile1206Ser)
c.3608T>G (p.Ile1203Ser)
c.3569T>G (p.Ile1190Ser)
c.3668T>G (p.Ile1223Ser)
c.3665T>G (p.Ile1222Ser)
c.3656T>G (p.Ile1219Ser)
c.3650T>G (p.Ile1217Ser)
c.3647T>G (p.Ile1216Ser)
c.3605T>G (p.Ile1202Ser)
c.3602T>G (p.Ile1201Ser)
c.2708T>G (p.Ile903Ser)
2g.50091421A>GCA346819156NRXN1c.3620T>C (p.Ile1207Thr)
n.787T>C
c.507T>C (n.507T>C)
c.515T>C (p.Ile172Thr)
c.3740T>C (p.Ile1247Thr)
c.3584T>C (p.Ile1195Thr)
c.-218T>C (n.-218T>C)
c.3596T>C (p.Ile1199Thr)
n.429T>C
c.3641T>C (p.Ile1214Thr)
c.3638T>C (p.Ile1213Thr)
c.3629T>C (p.Ile1210Thr)
c.3623T>C (p.Ile1208Thr)
c.3614T>C (p.Ile1205Thr)
c.3611T>C (p.Ile1204Thr)
c.3581T>C (p.Ile1194Thr)
c.3551T>C (p.Ile1184Thr)
c.2846T>C (p.Ile949Thr)
c.2801T>C (p.Ile934Thr)
c.2774T>C (p.Ile925Thr)
c.2681T>C (p.Ile894Thr)
c.3554T>C (p.Ile1185Thr)
c.3593T>C (p.Ile1198Thr)
c.3509T>C (p.Ile1170Thr)
c.3539T>C (p.Ile1180Thr)
c.3617T>C (p.Ile1206Thr)
c.3608T>C (p.Ile1203Thr)
c.3569T>C (p.Ile1190Thr)
c.3668T>C (p.Ile1223Thr)
c.3665T>C (p.Ile1222Thr)
c.3656T>C (p.Ile1219Thr)
c.3650T>C (p.Ile1217Thr)
c.3647T>C (p.Ile1216Thr)
c.3605T>C (p.Ile1202Thr)
c.3602T>C (p.Ile1201Thr)
c.2708T>C (p.Ile903Thr)
gnomAD v4
2g.50091421A>TCA346819157NRXN1c.3620T>A (p.Ile1207Asn)
n.787T>A
c.507T>A (n.507T>A)
c.515T>A (p.Ile172Asn)
c.3740T>A (p.Ile1247Asn)
c.3584T>A (p.Ile1195Asn)
c.-218T>A (n.-218T>A)
c.3596T>A (p.Ile1199Asn)
n.429T>A
c.3641T>A (p.Ile1214Asn)
c.3638T>A (p.Ile1213Asn)
c.3629T>A (p.Ile1210Asn)
c.3623T>A (p.Ile1208Asn)
c.3614T>A (p.Ile1205Asn)
c.3611T>A (p.Ile1204Asn)
c.3581T>A (p.Ile1194Asn)
c.3551T>A (p.Ile1184Asn)
c.2846T>A (p.Ile949Asn)
c.2801T>A (p.Ile934Asn)
c.2774T>A (p.Ile925Asn)
c.2681T>A (p.Ile894Asn)
c.3554T>A (p.Ile1185Asn)
c.3593T>A (p.Ile1198Asn)
c.3509T>A (p.Ile1170Asn)
c.3539T>A (p.Ile1180Asn)
c.3617T>A (p.Ile1206Asn)
c.3608T>A (p.Ile1203Asn)
c.3569T>A (p.Ile1190Asn)
c.3668T>A (p.Ile1223Asn)
c.3665T>A (p.Ile1222Asn)
c.3656T>A (p.Ile1219Asn)
c.3650T>A (p.Ile1217Asn)
c.3647T>A (p.Ile1216Asn)
c.3605T>A (p.Ile1202Asn)
c.3602T>A (p.Ile1201Asn)
c.2708T>A (p.Ile903Asn)
2g.50091422T>ACA346819158NRXN1c.3619A>T (p.Ile1207Phe)
n.786A>T
c.506A>T (n.506A>T)
c.514A>T (p.Ile172Phe)
c.3739A>T (p.Ile1247Phe)
c.3583A>T (p.Ile1195Phe)
c.-219A>T (n.-219A>T)
c.3595A>T (p.Ile1199Phe)
n.428A>T
c.3640A>T (p.Ile1214Phe)
c.3637A>T (p.Ile1213Phe)
c.3628A>T (p.Ile1210Phe)
c.3622A>T (p.Ile1208Phe)
c.3613A>T (p.Ile1205Phe)
c.3610A>T (p.Ile1204Phe)
c.3580A>T (p.Ile1194Phe)
c.3550A>T (p.Ile1184Phe)
c.2845A>T (p.Ile949Phe)
c.2800A>T (p.Ile934Phe)
c.2773A>T (p.Ile925Phe)
c.2680A>T (p.Ile894Phe)
c.3553A>T (p.Ile1185Phe)
c.3592A>T (p.Ile1198Phe)
c.3508A>T (p.Ile1170Phe)
c.3538A>T (p.Ile1180Phe)
c.3616A>T (p.Ile1206Phe)
c.3607A>T (p.Ile1203Phe)
c.3568A>T (p.Ile1190Phe)
c.3667A>T (p.Ile1223Phe)
c.3664A>T (p.Ile1222Phe)
c.3655A>T (p.Ile1219Phe)
c.3649A>T (p.Ile1217Phe)
c.3646A>T (p.Ile1216Phe)
c.3604A>T (p.Ile1202Phe)
c.3601A>T (p.Ile1201Phe)
c.2707A>T (p.Ile903Phe)
2g.50091422T>CCA346819159NRXN1c.3619A>G (p.Ile1207Val)
n.786A>G
c.506A>G (n.506A>G)
c.514A>G (p.Ile172Val)
c.3739A>G (p.Ile1247Val)
c.3583A>G (p.Ile1195Val)
c.-219A>G (n.-219A>G)
c.3595A>G (p.Ile1199Val)
n.428A>G
c.3640A>G (p.Ile1214Val)
c.3637A>G (p.Ile1213Val)
c.3628A>G (p.Ile1210Val)
c.3622A>G (p.Ile1208Val)
c.3613A>G (p.Ile1205Val)
c.3610A>G (p.Ile1204Val)
c.3580A>G (p.Ile1194Val)
c.3550A>G (p.Ile1184Val)
c.2845A>G (p.Ile949Val)
c.2800A>G (p.Ile934Val)
c.2773A>G (p.Ile925Val)
c.2680A>G (p.Ile894Val)
c.3553A>G (p.Ile1185Val)
c.3592A>G (p.Ile1198Val)
c.3508A>G (p.Ile1170Val)
c.3538A>G (p.Ile1180Val)
c.3616A>G (p.Ile1206Val)
c.3607A>G (p.Ile1203Val)
c.3568A>G (p.Ile1190Val)
c.3667A>G (p.Ile1223Val)
c.3664A>G (p.Ile1222Val)
c.3655A>G (p.Ile1219Val)
c.3649A>G (p.Ile1217Val)
c.3646A>G (p.Ile1216Val)
c.3604A>G (p.Ile1202Val)
c.3601A>G (p.Ile1201Val)
c.2707A>G (p.Ile903Val)
2g.50091422T>GCA346819160NRXN1c.3619A>C (p.Ile1207Leu)
n.786A>C
c.506A>C (n.506A>C)
c.514A>C (p.Ile172Leu)
c.3739A>C (p.Ile1247Leu)
c.3583A>C (p.Ile1195Leu)
c.-219A>C (n.-219A>C)
c.3595A>C (p.Ile1199Leu)
n.428A>C
c.3640A>C (p.Ile1214Leu)
c.3637A>C (p.Ile1213Leu)
c.3628A>C (p.Ile1210Leu)
c.3622A>C (p.Ile1208Leu)
c.3613A>C (p.Ile1205Leu)
c.3610A>C (p.Ile1204Leu)
c.3580A>C (p.Ile1194Leu)
c.3550A>C (p.Ile1184Leu)
c.2845A>C (p.Ile949Leu)
c.2800A>C (p.Ile934Leu)
c.2773A>C (p.Ile925Leu)
c.2680A>C (p.Ile894Leu)
c.3553A>C (p.Ile1185Leu)
c.3592A>C (p.Ile1198Leu)
c.3508A>C (p.Ile1170Leu)
c.3538A>C (p.Ile1180Leu)
c.3616A>C (p.Ile1206Leu)
c.3607A>C (p.Ile1203Leu)
c.3568A>C (p.Ile1190Leu)
c.3667A>C (p.Ile1223Leu)
c.3664A>C (p.Ile1222Leu)
c.3655A>C (p.Ile1219Leu)
c.3649A>C (p.Ile1217Leu)
c.3646A>C (p.Ile1216Leu)
c.3604A>C (p.Ile1202Leu)
c.3601A>C (p.Ile1201Leu)
c.2707A>C (p.Ile903Leu)
dbSNP gnomAD v2 gnomAD v4
2g.50091422T=CA1249373441NRXN1c.3619A= (p.Ile1207=)
n.786A=
c.506A= (n.506A=)
c.514A= (p.Ile172=)
c.3739A= (p.Ile1247=)
c.3583A= (p.Ile1195=)
c.-219A= (n.-219A=)
c.3595A= (p.Ile1199=)
n.428A=
c.3640A= (p.Ile1214=)
c.3637A= (p.Ile1213=)
c.3628A= (p.Ile1210=)
c.3622A= (p.Ile1208=)
c.3613A= (p.Ile1205=)
c.3610A= (p.Ile1204=)
c.3580A= (p.Ile1194=)
c.3550A= (p.Ile1184=)
c.2845A= (p.Ile949=)
c.2800A= (p.Ile934=)
c.2773A= (p.Ile925=)
c.2680A= (p.Ile894=)
c.3553A= (p.Ile1185=)
c.3592A= (p.Ile1198=)
c.3508A= (p.Ile1170=)
c.3538A= (p.Ile1180=)
c.3616A= (p.Ile1206=)
c.3607A= (p.Ile1203=)
c.3568A= (p.Ile1190=)
c.3667A= (p.Ile1223=)
c.3664A= (p.Ile1222=)
c.3655A= (p.Ile1219=)
c.3649A= (p.Ile1217=)
c.3646A= (p.Ile1216=)
c.3604A= (p.Ile1202=)
c.3601A= (p.Ile1201=)
c.2707A= (p.Ile903=)
2g.50091423G>ACA426101625NRXN1c.3618C>T (p.Ile1206=)
n.785C>T
c.505C>T (n.505C>T)
c.513C>T (p.Ile171=)
c.3738C>T (p.Ile1246=)
c.3582C>T (p.Ile1194=)
c.-220C>T (n.-220C>T)
c.3594C>T (p.Ile1198=)
n.427C>T
c.3639C>T (p.Ile1213=)
c.3636C>T (p.Ile1212=)
c.3627C>T (p.Ile1209=)
c.3621C>T (p.Ile1207=)
c.3612C>T (p.Ile1204=)
c.3609C>T (p.Ile1203=)
c.3579C>T (p.Ile1193=)
c.3549C>T (p.Ile1183=)
c.2844C>T (p.Ile948=)
c.2799C>T (p.Ile933=)
c.2772C>T (p.Ile924=)
c.2679C>T (p.Ile893=)
c.3552C>T (p.Ile1184=)
c.3591C>T (p.Ile1197=)
c.3507C>T (p.Ile1169=)
c.3537C>T (p.Ile1179=)
c.3615C>T (p.Ile1205=)
c.3606C>T (p.Ile1202=)
c.3567C>T (p.Ile1189=)
c.3666C>T (p.Ile1222=)
c.3663C>T (p.Ile1221=)
c.3654C>T (p.Ile1218=)
c.3648C>T (p.Ile1216=)
c.3645C>T (p.Ile1215=)
c.3603C>T (p.Ile1201=)
c.3600C>T (p.Ile1200=)
c.2706C>T (p.Ile902=)
ClinVar dbSNP gnomAD v4
2g.50091423G>CCA346819161NRXN1c.3618C>G (p.Ile1206Met)
n.785C>G
c.505C>G (n.505C>G)
c.513C>G (p.Ile171Met)
c.3738C>G (p.Ile1246Met)
c.3582C>G (p.Ile1194Met)
c.-220C>G (n.-220C>G)
c.3594C>G (p.Ile1198Met)
n.427C>G
c.3639C>G (p.Ile1213Met)
c.3636C>G (p.Ile1212Met)
c.3627C>G (p.Ile1209Met)
c.3621C>G (p.Ile1207Met)
c.3612C>G (p.Ile1204Met)
c.3609C>G (p.Ile1203Met)
c.3579C>G (p.Ile1193Met)
c.3549C>G (p.Ile1183Met)
c.2844C>G (p.Ile948Met)
c.2799C>G (p.Ile933Met)
c.2772C>G (p.Ile924Met)
c.2679C>G (p.Ile893Met)
c.3552C>G (p.Ile1184Met)
c.3591C>G (p.Ile1197Met)
c.3507C>G (p.Ile1169Met)
c.3537C>G (p.Ile1179Met)
c.3615C>G (p.Ile1205Met)
c.3606C>G (p.Ile1202Met)
c.3567C>G (p.Ile1189Met)
c.3666C>G (p.Ile1222Met)
c.3663C>G (p.Ile1221Met)
c.3654C>G (p.Ile1218Met)
c.3648C>G (p.Ile1216Met)
c.3645C>G (p.Ile1215Met)
c.3603C>G (p.Ile1201Met)
c.3600C>G (p.Ile1200Met)
c.2706C>G (p.Ile902Met)
2g.50091423G=CA1249373442NRXN1c.3618C= (p.Ile1206=)
n.785C=
c.505C= (n.505C=)
c.513C= (p.Ile171=)
c.3738C= (p.Ile1246=)
c.3582C= (p.Ile1194=)
c.-220C= (n.-220C=)
c.3594C= (p.Ile1198=)
n.427C=
c.3639C= (p.Ile1213=)
c.3636C= (p.Ile1212=)
c.3627C= (p.Ile1209=)
c.3621C= (p.Ile1207=)
c.3612C= (p.Ile1204=)
c.3609C= (p.Ile1203=)
c.3579C= (p.Ile1193=)
c.3549C= (p.Ile1183=)
c.2844C= (p.Ile948=)
c.2799C= (p.Ile933=)
c.2772C= (p.Ile924=)
c.2679C= (p.Ile893=)
c.3552C= (p.Ile1184=)
c.3591C= (p.Ile1197=)
c.3507C= (p.Ile1169=)
c.3537C= (p.Ile1179=)
c.3615C= (p.Ile1205=)
c.3606C= (p.Ile1202=)
c.3567C= (p.Ile1189=)
c.3666C= (p.Ile1222=)
c.3663C= (p.Ile1221=)
c.3654C= (p.Ile1218=)
c.3648C= (p.Ile1216=)
c.3645C= (p.Ile1215=)
c.3603C= (p.Ile1201=)
c.3600C= (p.Ile1200=)
c.2706C= (p.Ile902=)
2g.50091423G>TCA426101626NRXN1c.3618C>A (p.Ile1206=)
n.785C>A
c.505C>A (n.505C>A)
c.513C>A (p.Ile171=)
c.3738C>A (p.Ile1246=)
c.3582C>A (p.Ile1194=)
c.-220C>A (n.-220C>A)
c.3594C>A (p.Ile1198=)
n.427C>A
c.3639C>A (p.Ile1213=)
c.3636C>A (p.Ile1212=)
c.3627C>A (p.Ile1209=)
c.3621C>A (p.Ile1207=)
c.3612C>A (p.Ile1204=)
c.3609C>A (p.Ile1203=)
c.3579C>A (p.Ile1193=)
c.3549C>A (p.Ile1183=)
c.2844C>A (p.Ile948=)
c.2799C>A (p.Ile933=)
c.2772C>A (p.Ile924=)
c.2679C>A (p.Ile893=)
c.3552C>A (p.Ile1184=)
c.3591C>A (p.Ile1197=)
c.3507C>A (p.Ile1169=)
c.3537C>A (p.Ile1179=)
c.3615C>A (p.Ile1205=)
c.3606C>A (p.Ile1202=)
c.3567C>A (p.Ile1189=)
c.3666C>A (p.Ile1222=)
c.3663C>A (p.Ile1221=)
c.3654C>A (p.Ile1218=)
c.3648C>A (p.Ile1216=)
c.3645C>A (p.Ile1215=)
c.3603C>A (p.Ile1201=)
c.3600C>A (p.Ile1200=)
c.2706C>A (p.Ile902=)
gnomAD v4
2g.50091424A>CCA346819164NRXN1c.3617T>G (p.Ile1206Ser)
n.784T>G
c.504T>G (n.504T>G)
c.512T>G (p.Ile171Ser)
c.3737T>G (p.Ile1246Ser)
c.3581T>G (p.Ile1194Ser)
c.-221T>G (n.-221T>G)
c.3593T>G (p.Ile1198Ser)
n.426T>G
c.3638T>G (p.Ile1213Ser)
c.3635T>G (p.Ile1212Ser)
c.3626T>G (p.Ile1209Ser)
c.3620T>G (p.Ile1207Ser)
c.3611T>G (p.Ile1204Ser)
c.3608T>G (p.Ile1203Ser)
c.3578T>G (p.Ile1193Ser)
c.3548T>G (p.Ile1183Ser)
c.2843T>G (p.Ile948Ser)
c.2798T>G (p.Ile933Ser)
c.2771T>G (p.Ile924Ser)
c.2678T>G (p.Ile893Ser)
c.3551T>G (p.Ile1184Ser)
c.3590T>G (p.Ile1197Ser)
c.3506T>G (p.Ile1169Ser)
c.3536T>G (p.Ile1179Ser)
c.3614T>G (p.Ile1205Ser)
c.3605T>G (p.Ile1202Ser)
c.3566T>G (p.Ile1189Ser)
c.3665T>G (p.Ile1222Ser)
c.3662T>G (p.Ile1221Ser)
c.3653T>G (p.Ile1218Ser)
c.3647T>G (p.Ile1216Ser)
c.3644T>G (p.Ile1215Ser)
c.3602T>G (p.Ile1201Ser)
c.3599T>G (p.Ile1200Ser)
c.2705T>G (p.Ile902Ser)
2g.50091424A>GCA346819162NRXN1c.3617T>C (p.Ile1206Thr)
n.784T>C
c.504T>C (n.504T>C)
c.512T>C (p.Ile171Thr)
c.3737T>C (p.Ile1246Thr)
c.3581T>C (p.Ile1194Thr)
c.-221T>C (n.-221T>C)
c.3593T>C (p.Ile1198Thr)
n.426T>C
c.3638T>C (p.Ile1213Thr)
c.3635T>C (p.Ile1212Thr)
c.3626T>C (p.Ile1209Thr)
c.3620T>C (p.Ile1207Thr)
c.3611T>C (p.Ile1204Thr)
c.3608T>C (p.Ile1203Thr)
c.3578T>C (p.Ile1193Thr)
c.3548T>C (p.Ile1183Thr)
c.2843T>C (p.Ile948Thr)
c.2798T>C (p.Ile933Thr)
c.2771T>C (p.Ile924Thr)
c.2678T>C (p.Ile893Thr)
c.3551T>C (p.Ile1184Thr)
c.3590T>C (p.Ile1197Thr)
c.3506T>C (p.Ile1169Thr)
c.3536T>C (p.Ile1179Thr)
c.3614T>C (p.Ile1205Thr)
c.3605T>C (p.Ile1202Thr)
c.3566T>C (p.Ile1189Thr)
c.3665T>C (p.Ile1222Thr)
c.3662T>C (p.Ile1221Thr)
c.3653T>C (p.Ile1218Thr)
c.3647T>C (p.Ile1216Thr)
c.3644T>C (p.Ile1215Thr)
c.3602T>C (p.Ile1201Thr)
c.3599T>C (p.Ile1200Thr)
c.2705T>C (p.Ile902Thr)
2g.50091424A>TCA346819163NRXN1c.3617T>A (p.Ile1206Asn)
n.784T>A
c.504T>A (n.504T>A)
c.512T>A (p.Ile171Asn)
c.3737T>A (p.Ile1246Asn)
c.3581T>A (p.Ile1194Asn)
c.-221T>A (n.-221T>A)
c.3593T>A (p.Ile1198Asn)
n.426T>A
c.3638T>A (p.Ile1213Asn)
c.3635T>A (p.Ile1212Asn)
c.3626T>A (p.Ile1209Asn)
c.3620T>A (p.Ile1207Asn)
c.3611T>A (p.Ile1204Asn)
c.3608T>A (p.Ile1203Asn)
c.3578T>A (p.Ile1193Asn)
c.3548T>A (p.Ile1183Asn)
c.2843T>A (p.Ile948Asn)
c.2798T>A (p.Ile933Asn)
c.2771T>A (p.Ile924Asn)
c.2678T>A (p.Ile893Asn)
c.3551T>A (p.Ile1184Asn)
c.3590T>A (p.Ile1197Asn)
c.3506T>A (p.Ile1169Asn)
c.3536T>A (p.Ile1179Asn)
c.3614T>A (p.Ile1205Asn)
c.3605T>A (p.Ile1202Asn)
c.3566T>A (p.Ile1189Asn)
c.3665T>A (p.Ile1222Asn)
c.3662T>A (p.Ile1221Asn)
c.3653T>A (p.Ile1218Asn)
c.3647T>A (p.Ile1216Asn)
c.3644T>A (p.Ile1215Asn)
c.3602T>A (p.Ile1201Asn)
c.3599T>A (p.Ile1200Asn)
c.2705T>A (p.Ile902Asn)
2g.50091425T>ACA346819165NRXN1c.3616A>T (p.Ile1206Phe)
n.783A>T
c.503A>T (n.503A>T)
c.511A>T (p.Ile171Phe)
c.3736A>T (p.Ile1246Phe)
c.3580A>T (p.Ile1194Phe)
c.-222A>T (n.-222A>T)
c.3592A>T (p.Ile1198Phe)
n.425A>T
c.3637A>T (p.Ile1213Phe)
c.3634A>T (p.Ile1212Phe)
c.3625A>T (p.Ile1209Phe)
c.3619A>T (p.Ile1207Phe)
c.3610A>T (p.Ile1204Phe)
c.3607A>T (p.Ile1203Phe)
c.3577A>T (p.Ile1193Phe)
c.3547A>T (p.Ile1183Phe)
c.2842A>T (p.Ile948Phe)
c.2797A>T (p.Ile933Phe)
c.2770A>T (p.Ile924Phe)
c.2677A>T (p.Ile893Phe)
c.3550A>T (p.Ile1184Phe)
c.3589A>T (p.Ile1197Phe)
c.3505A>T (p.Ile1169Phe)
c.3535A>T (p.Ile1179Phe)
c.3613A>T (p.Ile1205Phe)
c.3604A>T (p.Ile1202Phe)
c.3565A>T (p.Ile1189Phe)
c.3664A>T (p.Ile1222Phe)
c.3661A>T (p.Ile1221Phe)
c.3652A>T (p.Ile1218Phe)
c.3646A>T (p.Ile1216Phe)
c.3643A>T (p.Ile1215Phe)
c.3601A>T (p.Ile1201Phe)
c.3598A>T (p.Ile1200Phe)
c.2704A>T (p.Ile902Phe)
2g.50091425T>CCA207108NRXN1c.3616A>G (p.Ile1206Val)
n.783A>G
c.503A>G (n.503A>G)
c.511A>G (p.Ile171Val)
c.3736A>G (p.Ile1246Val)
c.3580A>G (p.Ile1194Val)
c.-222A>G (n.-222A>G)
c.3592A>G (p.Ile1198Val)
n.425A>G
c.3637A>G (p.Ile1213Val)
c.3634A>G (p.Ile1212Val)
c.3625A>G (p.Ile1209Val)
c.3619A>G (p.Ile1207Val)
c.3610A>G (p.Ile1204Val)
c.3607A>G (p.Ile1203Val)
c.3577A>G (p.Ile1193Val)
c.3547A>G (p.Ile1183Val)
c.2842A>G (p.Ile948Val)
c.2797A>G (p.Ile933Val)
c.2770A>G (p.Ile924Val)
c.2677A>G (p.Ile893Val)
c.3550A>G (p.Ile1184Val)
c.3589A>G (p.Ile1197Val)
c.3505A>G (p.Ile1169Val)
c.3535A>G (p.Ile1179Val)
c.3613A>G (p.Ile1205Val)
c.3604A>G (p.Ile1202Val)
c.3565A>G (p.Ile1189Val)
c.3664A>G (p.Ile1222Val)
c.3661A>G (p.Ile1221Val)
c.3652A>G (p.Ile1218Val)
c.3646A>G (p.Ile1216Val)
c.3643A>G (p.Ile1215Val)
c.3601A>G (p.Ile1201Val)
c.3598A>G (p.Ile1200Val)
c.2704A>G (p.Ile902Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.50091425T>GCA346819166NRXN1c.3616A>C (p.Ile1206Leu)
n.783A>C
c.503A>C (n.503A>C)
c.511A>C (p.Ile171Leu)
c.3736A>C (p.Ile1246Leu)
c.3580A>C (p.Ile1194Leu)
c.-222A>C (n.-222A>C)
c.3592A>C (p.Ile1198Leu)
n.425A>C
c.3637A>C (p.Ile1213Leu)
c.3634A>C (p.Ile1212Leu)
c.3625A>C (p.Ile1209Leu)
c.3619A>C (p.Ile1207Leu)
c.3610A>C (p.Ile1204Leu)
c.3607A>C (p.Ile1203Leu)
c.3577A>C (p.Ile1193Leu)
c.3547A>C (p.Ile1183Leu)
c.2842A>C (p.Ile948Leu)
c.2797A>C (p.Ile933Leu)
c.2770A>C (p.Ile924Leu)
c.2677A>C (p.Ile893Leu)
c.3550A>C (p.Ile1184Leu)
c.3589A>C (p.Ile1197Leu)
c.3505A>C (p.Ile1169Leu)
c.3535A>C (p.Ile1179Leu)
c.3613A>C (p.Ile1205Leu)
c.3604A>C (p.Ile1202Leu)
c.3565A>C (p.Ile1189Leu)
c.3664A>C (p.Ile1222Leu)
c.3661A>C (p.Ile1221Leu)
c.3652A>C (p.Ile1218Leu)
c.3646A>C (p.Ile1216Leu)
c.3643A>C (p.Ile1215Leu)
c.3601A>C (p.Ile1201Leu)
c.3598A>C (p.Ile1200Leu)
c.2704A>C (p.Ile902Leu)
2g.50091425T=CA1249373443NRXN1c.3616A= (p.Ile1206=)
n.783A=
c.503A= (n.503A=)
c.511A= (p.Ile171=)
c.3736A= (p.Ile1246=)
c.3580A= (p.Ile1194=)
c.-222A= (n.-222A=)
c.3592A= (p.Ile1198=)
n.425A=
c.3637A= (p.Ile1213=)
c.3634A= (p.Ile1212=)
c.3625A= (p.Ile1209=)
c.3619A= (p.Ile1207=)
c.3610A= (p.Ile1204=)
c.3607A= (p.Ile1203=)
c.3577A= (p.Ile1193=)
c.3547A= (p.Ile1183=)
c.2842A= (p.Ile948=)
c.2797A= (p.Ile933=)
c.2770A= (p.Ile924=)
c.2677A= (p.Ile893=)
c.3550A= (p.Ile1184=)
c.3589A= (p.Ile1197=)
c.3505A= (p.Ile1169=)
c.3535A= (p.Ile1179=)
c.3613A= (p.Ile1205=)
c.3604A= (p.Ile1202=)
c.3565A= (p.Ile1189=)
c.3664A= (p.Ile1222=)
c.3661A= (p.Ile1221=)
c.3652A= (p.Ile1218=)
c.3646A= (p.Ile1216=)
c.3643A= (p.Ile1215=)
c.3601A= (p.Ile1201=)
c.3598A= (p.Ile1200=)
c.2704A= (p.Ile902=)
2g.50091426T>ACA426101627NRXN1c.3615A>T (p.Ala1205=)
n.782A>T
c.502A>T (n.502A>T)
c.510A>T (p.Ala170=)
c.3735A>T (p.Ala1245=)
c.3579A>T (p.Ala1193=)
c.-223A>T (n.-223A>T)
c.3591A>T (p.Ala1197=)
n.424A>T
c.3636A>T (p.Ala1212=)
c.3633A>T (p.Ala1211=)
c.3624A>T (p.Ala1208=)
c.3618A>T (p.Ala1206=)
c.3609A>T (p.Ala1203=)
c.3606A>T (p.Ala1202=)
c.3576A>T (p.Ala1192=)
c.3546A>T (p.Ala1182=)
c.2841A>T (p.Ala947=)
c.2796A>T (p.Ala932=)
c.2769A>T (p.Ala923=)
c.2676A>T (p.Ala892=)
c.3549A>T (p.Ala1183=)
c.3588A>T (p.Ala1196=)
c.3504A>T (p.Ala1168=)
c.3534A>T (p.Ala1178=)
c.3612A>T (p.Ala1204=)
c.3603A>T (p.Ala1201=)
c.3564A>T (p.Ala1188=)
c.3663A>T (p.Ala1221=)
c.3660A>T (p.Ala1220=)
c.3651A>T (p.Ala1217=)
c.3645A>T (p.Ala1215=)
c.3642A>T (p.Ala1214=)
c.3600A>T (p.Ala1200=)
c.3597A>T (p.Ala1199=)
c.2703A>T (p.Ala901=)
2g.50091426T>CCA426101628NRXN1c.3615A>G (p.Ala1205=)
n.782A>G
c.502A>G (n.502A>G)
c.510A>G (p.Ala170=)
c.3735A>G (p.Ala1245=)
c.3579A>G (p.Ala1193=)
c.-223A>G (n.-223A>G)
c.3591A>G (p.Ala1197=)
n.424A>G
c.3636A>G (p.Ala1212=)
c.3633A>G (p.Ala1211=)
c.3624A>G (p.Ala1208=)
c.3618A>G (p.Ala1206=)
c.3609A>G (p.Ala1203=)
c.3606A>G (p.Ala1202=)
c.3576A>G (p.Ala1192=)
c.3546A>G (p.Ala1182=)
c.2841A>G (p.Ala947=)
c.2796A>G (p.Ala932=)
c.2769A>G (p.Ala923=)
c.2676A>G (p.Ala892=)
c.3549A>G (p.Ala1183=)
c.3588A>G (p.Ala1196=)
c.3504A>G (p.Ala1168=)
c.3534A>G (p.Ala1178=)
c.3612A>G (p.Ala1204=)
c.3603A>G (p.Ala1201=)
c.3564A>G (p.Ala1188=)
c.3663A>G (p.Ala1221=)
c.3660A>G (p.Ala1220=)
c.3651A>G (p.Ala1217=)
c.3645A>G (p.Ala1215=)
c.3642A>G (p.Ala1214=)
c.3600A>G (p.Ala1200=)
c.3597A>G (p.Ala1199=)
c.2703A>G (p.Ala901=)
2g.50091426T>GCA426101630NRXN1c.3615A>C (p.Ala1205=)
n.782A>C
c.502A>C (n.502A>C)
c.510A>C (p.Ala170=)
c.3735A>C (p.Ala1245=)
c.3579A>C (p.Ala1193=)
c.-223A>C (n.-223A>C)
c.3591A>C (p.Ala1197=)
n.424A>C
c.3636A>C (p.Ala1212=)
c.3633A>C (p.Ala1211=)
c.3624A>C (p.Ala1208=)
c.3618A>C (p.Ala1206=)
c.3609A>C (p.Ala1203=)
c.3606A>C (p.Ala1202=)
c.3576A>C (p.Ala1192=)
c.3546A>C (p.Ala1182=)
c.2841A>C (p.Ala947=)
c.2796A>C (p.Ala932=)
c.2769A>C (p.Ala923=)
c.2676A>C (p.Ala892=)
c.3549A>C (p.Ala1183=)
c.3588A>C (p.Ala1196=)
c.3504A>C (p.Ala1168=)
c.3534A>C (p.Ala1178=)
c.3612A>C (p.Ala1204=)
c.3603A>C (p.Ala1201=)
c.3564A>C (p.Ala1188=)
c.3663A>C (p.Ala1221=)
c.3660A>C (p.Ala1220=)
c.3651A>C (p.Ala1217=)
c.3645A>C (p.Ala1215=)
c.3642A>C (p.Ala1214=)
c.3600A>C (p.Ala1200=)
c.3597A>C (p.Ala1199=)
c.2703A>C (p.Ala901=)
gnomAD v4
2g.50091427G>ACA346819169NRXN1c.3614C>T (p.Ala1205Val)
n.781C>T
c.501C>T (n.501C>T)
c.509C>T (p.Ala170Val)
c.3734C>T (p.Ala1245Val)
c.3578C>T (p.Ala1193Val)
c.-224C>T (n.-224C>T)
c.3590C>T (p.Ala1197Val)
n.423C>T
c.3635C>T (p.Ala1212Val)
c.3632C>T (p.Ala1211Val)
c.3623C>T (p.Ala1208Val)
c.3617C>T (p.Ala1206Val)
c.3608C>T (p.Ala1203Val)
c.3605C>T (p.Ala1202Val)
c.3575C>T (p.Ala1192Val)
c.3545C>T (p.Ala1182Val)
c.2840C>T (p.Ala947Val)
c.2795C>T (p.Ala932Val)
c.2768C>T (p.Ala923Val)
c.2675C>T (p.Ala892Val)
c.3548C>T (p.Ala1183Val)
c.3587C>T (p.Ala1196Val)
c.3503C>T (p.Ala1168Val)
c.3533C>T (p.Ala1178Val)
c.3611C>T (p.Ala1204Val)
c.3602C>T (p.Ala1201Val)
c.3563C>T (p.Ala1188Val)
c.3662C>T (p.Ala1221Val)
c.3659C>T (p.Ala1220Val)
c.3650C>T (p.Ala1217Val)
c.3644C>T (p.Ala1215Val)
c.3641C>T (p.Ala1214Val)
c.3599C>T (p.Ala1200Val)
c.3596C>T (p.Ala1199Val)
c.2702C>T (p.Ala901Val)
gnomAD v4
2g.50091427G>CCA346819168NRXN1c.3614C>G (p.Ala1205Gly)
n.781C>G
c.501C>G (n.501C>G)
c.509C>G (p.Ala170Gly)
c.3734C>G (p.Ala1245Gly)
c.3578C>G (p.Ala1193Gly)
c.-224C>G (n.-224C>G)
c.3590C>G (p.Ala1197Gly)
n.423C>G
c.3635C>G (p.Ala1212Gly)
c.3632C>G (p.Ala1211Gly)
c.3623C>G (p.Ala1208Gly)
c.3617C>G (p.Ala1206Gly)
c.3608C>G (p.Ala1203Gly)
c.3605C>G (p.Ala1202Gly)
c.3575C>G (p.Ala1192Gly)
c.3545C>G (p.Ala1182Gly)
c.2840C>G (p.Ala947Gly)
c.2795C>G (p.Ala932Gly)
c.2768C>G (p.Ala923Gly)
c.2675C>G (p.Ala892Gly)
c.3548C>G (p.Ala1183Gly)
c.3587C>G (p.Ala1196Gly)
c.3503C>G (p.Ala1168Gly)
c.3533C>G (p.Ala1178Gly)
c.3611C>G (p.Ala1204Gly)
c.3602C>G (p.Ala1201Gly)
c.3563C>G (p.Ala1188Gly)
c.3662C>G (p.Ala1221Gly)
c.3659C>G (p.Ala1220Gly)
c.3650C>G (p.Ala1217Gly)
c.3644C>G (p.Ala1215Gly)
c.3641C>G (p.Ala1214Gly)
c.3599C>G (p.Ala1200Gly)
c.3596C>G (p.Ala1199Gly)
c.2702C>G (p.Ala901Gly)
2g.50091427G=CA1249373444NRXN1c.3614C= (p.Ala1205=)
n.781C=
c.501C= (n.501C=)
c.509C= (p.Ala170=)
c.3734C= (p.Ala1245=)
c.3578C= (p.Ala1193=)
c.-224C= (n.-224C=)
c.3590C= (p.Ala1197=)
n.423C=
c.3635C= (p.Ala1212=)
c.3632C= (p.Ala1211=)
c.3623C= (p.Ala1208=)
c.3617C= (p.Ala1206=)
c.3608C= (p.Ala1203=)
c.3605C= (p.Ala1202=)
c.3575C= (p.Ala1192=)
c.3545C= (p.Ala1182=)
c.2840C= (p.Ala947=)
c.2795C= (p.Ala932=)
c.2768C= (p.Ala923=)
c.2675C= (p.Ala892=)
c.3548C= (p.Ala1183=)
c.3587C= (p.Ala1196=)
c.3503C= (p.Ala1168=)
c.3533C= (p.Ala1178=)
c.3611C= (p.Ala1204=)
c.3602C= (p.Ala1201=)
c.3563C= (p.Ala1188=)
c.3662C= (p.Ala1221=)
c.3659C= (p.Ala1220=)
c.3650C= (p.Ala1217=)
c.3644C= (p.Ala1215=)
c.3641C= (p.Ala1214=)
c.3599C= (p.Ala1200=)
c.3596C= (p.Ala1199=)
c.2702C= (p.Ala901=)
2g.50091427G>TCA346819167NRXN1c.3614C>A (p.Ala1205Glu)
n.781C>A
c.501C>A (n.501C>A)
c.509C>A (p.Ala170Glu)
c.3734C>A (p.Ala1245Glu)
c.3578C>A (p.Ala1193Glu)
c.-224C>A (n.-224C>A)
c.3590C>A (p.Ala1197Glu)
n.423C>A
c.3635C>A (p.Ala1212Glu)
c.3632C>A (p.Ala1211Glu)
c.3623C>A (p.Ala1208Glu)
c.3617C>A (p.Ala1206Glu)
c.3608C>A (p.Ala1203Glu)
c.3605C>A (p.Ala1202Glu)
c.3575C>A (p.Ala1192Glu)
c.3545C>A (p.Ala1182Glu)
c.2840C>A (p.Ala947Glu)
c.2795C>A (p.Ala932Glu)
c.2768C>A (p.Ala923Glu)
c.2675C>A (p.Ala892Glu)
c.3548C>A (p.Ala1183Glu)
c.3587C>A (p.Ala1196Glu)
c.3503C>A (p.Ala1168Glu)
c.3533C>A (p.Ala1178Glu)
c.3611C>A (p.Ala1204Glu)
c.3602C>A (p.Ala1201Glu)
c.3563C>A (p.Ala1188Glu)
c.3662C>A (p.Ala1221Glu)
c.3659C>A (p.Ala1220Glu)
c.3650C>A (p.Ala1217Glu)
c.3644C>A (p.Ala1215Glu)
c.3641C>A (p.Ala1214Glu)
c.3599C>A (p.Ala1200Glu)
c.3596C>A (p.Ala1199Glu)
c.2702C>A (p.Ala901Glu)
dbSNP gnomAD v2 gnomAD v4
2g.50091428C>ACA346819170NRXN1c.3613G>T (p.Ala1205Ser)
n.780G>T
c.500G>T (n.500G>T)
c.508G>T (p.Ala170Ser)
c.3733G>T (p.Ala1245Ser)
c.3577G>T (p.Ala1193Ser)
c.-225G>T (n.-225G>T)
c.3589G>T (p.Ala1197Ser)
n.422G>T
c.3634G>T (p.Ala1212Ser)
c.3631G>T (p.Ala1211Ser)
c.3622G>T (p.Ala1208Ser)
c.3616G>T (p.Ala1206Ser)
c.3607G>T (p.Ala1203Ser)
c.3604G>T (p.Ala1202Ser)
c.3574G>T (p.Ala1192Ser)
c.3544G>T (p.Ala1182Ser)
c.2839G>T (p.Ala947Ser)
c.2794G>T (p.Ala932Ser)
c.2767G>T (p.Ala923Ser)
c.2674G>T (p.Ala892Ser)
c.3547G>T (p.Ala1183Ser)
c.3586G>T (p.Ala1196Ser)
c.3502G>T (p.Ala1168Ser)
c.3532G>T (p.Ala1178Ser)
c.3610G>T (p.Ala1204Ser)
c.3601G>T (p.Ala1201Ser)
c.3562G>T (p.Ala1188Ser)
c.3661G>T (p.Ala1221Ser)
c.3658G>T (p.Ala1220Ser)
c.3649G>T (p.Ala1217Ser)
c.3643G>T (p.Ala1215Ser)
c.3640G>T (p.Ala1214Ser)
c.3598G>T (p.Ala1200Ser)
c.3595G>T (p.Ala1199Ser)
c.2701G>T (p.Ala901Ser)
2g.50091428C>GCA346819171NRXN1c.3613G>C (p.Ala1205Pro)
n.780G>C
c.500G>C (n.500G>C)
c.508G>C (p.Ala170Pro)
c.3733G>C (p.Ala1245Pro)
c.3577G>C (p.Ala1193Pro)
c.-225G>C (n.-225G>C)
c.3589G>C (p.Ala1197Pro)
n.422G>C
c.3634G>C (p.Ala1212Pro)
c.3631G>C (p.Ala1211Pro)
c.3622G>C (p.Ala1208Pro)
c.3616G>C (p.Ala1206Pro)
c.3607G>C (p.Ala1203Pro)
c.3604G>C (p.Ala1202Pro)
c.3574G>C (p.Ala1192Pro)
c.3544G>C (p.Ala1182Pro)
c.2839G>C (p.Ala947Pro)
c.2794G>C (p.Ala932Pro)
c.2767G>C (p.Ala923Pro)
c.2674G>C (p.Ala892Pro)
c.3547G>C (p.Ala1183Pro)
c.3586G>C (p.Ala1196Pro)
c.3502G>C (p.Ala1168Pro)
c.3532G>C (p.Ala1178Pro)
c.3610G>C (p.Ala1204Pro)
c.3601G>C (p.Ala1201Pro)
c.3562G>C (p.Ala1188Pro)
c.3661G>C (p.Ala1221Pro)
c.3658G>C (p.Ala1220Pro)
c.3649G>C (p.Ala1217Pro)
c.3643G>C (p.Ala1215Pro)
c.3640G>C (p.Ala1214Pro)
c.3598G>C (p.Ala1200Pro)
c.3595G>C (p.Ala1199Pro)
c.2701G>C (p.Ala901Pro)
2g.50091428C>TCA346819172NRXN1c.3613G>A (p.Ala1205Thr)
n.780G>A
c.500G>A (n.500G>A)
c.508G>A (p.Ala170Thr)
c.3733G>A (p.Ala1245Thr)
c.3577G>A (p.Ala1193Thr)
c.-225G>A (n.-225G>A)
c.3589G>A (p.Ala1197Thr)
n.422G>A
c.3634G>A (p.Ala1212Thr)
c.3631G>A (p.Ala1211Thr)
c.3622G>A (p.Ala1208Thr)
c.3616G>A (p.Ala1206Thr)
c.3607G>A (p.Ala1203Thr)
c.3604G>A (p.Ala1202Thr)
c.3574G>A (p.Ala1192Thr)
c.3544G>A (p.Ala1182Thr)
c.2839G>A (p.Ala947Thr)
c.2794G>A (p.Ala932Thr)
c.2767G>A (p.Ala923Thr)
c.2674G>A (p.Ala892Thr)
c.3547G>A (p.Ala1183Thr)
c.3586G>A (p.Ala1196Thr)
c.3502G>A (p.Ala1168Thr)
c.3532G>A (p.Ala1178Thr)
c.3610G>A (p.Ala1204Thr)
c.3601G>A (p.Ala1201Thr)
c.3562G>A (p.Ala1188Thr)
c.3661G>A (p.Ala1221Thr)
c.3658G>A (p.Ala1220Thr)
c.3649G>A (p.Ala1217Thr)
c.3643G>A (p.Ala1215Thr)
c.3640G>A (p.Ala1214Thr)
c.3598G>A (p.Ala1200Thr)
c.3595G>A (p.Ala1199Thr)
c.2701G>A (p.Ala901Thr)
2g.50091429A=CA1249373445NRXN1c.3612T= (p.Asn1204=)
n.779T=
c.499T= (n.499T=)
c.507T= (p.Asn169=)
c.3732T= (p.Asn1244=)
c.3576T= (p.Asn1192=)
c.-226T= (n.-226T=)
c.3588T= (p.Asn1196=)
n.421T=
c.3633T= (p.Asn1211=)
c.3630T= (p.Asn1210=)
c.3621T= (p.Asn1207=)
c.3615T= (p.Asn1205=)
c.3606T= (p.Asn1202=)
c.3603T= (p.Asn1201=)
c.3573T= (p.Asn1191=)
c.3543T= (p.Asn1181=)
c.2838T= (p.Asn946=)
c.2793T= (p.Asn931=)
c.2766T= (p.Asn922=)
c.2673T= (p.Asn891=)
c.3546T= (p.Asn1182=)
c.3585T= (p.Asn1195=)
c.3501T= (p.Asn1167=)
c.3531T= (p.Asn1177=)
c.3609T= (p.Asn1203=)
c.3600T= (p.Asn1200=)
c.3561T= (p.Asn1187=)
c.3660T= (p.Asn1220=)
c.3657T= (p.Asn1219=)
c.3648T= (p.Asn1216=)
c.3642T= (p.Asn1214=)
c.3639T= (p.Asn1213=)
c.3597T= (p.Asn1199=)
c.3594T= (p.Asn1198=)
c.2700T= (p.Asn900=)
2g.50091429A>CCA346819173NRXN1c.3612T>G (p.Asn1204Lys)
n.779T>G
c.499T>G (n.499T>G)
c.507T>G (p.Asn169Lys)
c.3732T>G (p.Asn1244Lys)
c.3576T>G (p.Asn1192Lys)
c.-226T>G (n.-226T>G)
c.3588T>G (p.Asn1196Lys)
n.421T>G
c.3633T>G (p.Asn1211Lys)
c.3630T>G (p.Asn1210Lys)
c.3621T>G (p.Asn1207Lys)
c.3615T>G (p.Asn1205Lys)
c.3606T>G (p.Asn1202Lys)
c.3603T>G (p.Asn1201Lys)
c.3573T>G (p.Asn1191Lys)
c.3543T>G (p.Asn1181Lys)
c.2838T>G (p.Asn946Lys)
c.2793T>G (p.Asn931Lys)
c.2766T>G (p.Asn922Lys)
c.2673T>G (p.Asn891Lys)
c.3546T>G (p.Asn1182Lys)
c.3585T>G (p.Asn1195Lys)
c.3501T>G (p.Asn1167Lys)
c.3531T>G (p.Asn1177Lys)
c.3609T>G (p.Asn1203Lys)
c.3600T>G (p.Asn1200Lys)
c.3561T>G (p.Asn1187Lys)
c.3660T>G (p.Asn1220Lys)
c.3657T>G (p.Asn1219Lys)
c.3648T>G (p.Asn1216Lys)
c.3642T>G (p.Asn1214Lys)
c.3639T>G (p.Asn1213Lys)
c.3597T>G (p.Asn1199Lys)
c.3594T>G (p.Asn1198Lys)
c.2700T>G (p.Asn900Lys)
2g.50091429A>GCA1654407NRXN1c.3612T>C (p.Asn1204=)
n.779T>C
c.499T>C (n.499T>C)
c.507T>C (p.Asn169=)
c.3732T>C (p.Asn1244=)
c.3576T>C (p.Asn1192=)
c.-226T>C (n.-226T>C)
c.3588T>C (p.Asn1196=)
n.421T>C
c.3633T>C (p.Asn1211=)
c.3630T>C (p.Asn1210=)
c.3621T>C (p.Asn1207=)
c.3615T>C (p.Asn1205=)
c.3606T>C (p.Asn1202=)
c.3603T>C (p.Asn1201=)
c.3573T>C (p.Asn1191=)
c.3543T>C (p.Asn1181=)
c.2838T>C (p.Asn946=)
c.2793T>C (p.Asn931=)
c.2766T>C (p.Asn922=)
c.2673T>C (p.Asn891=)
c.3546T>C (p.Asn1182=)
c.3585T>C (p.Asn1195=)
c.3501T>C (p.Asn1167=)
c.3531T>C (p.Asn1177=)
c.3609T>C (p.Asn1203=)
c.3600T>C (p.Asn1200=)
c.3561T>C (p.Asn1187=)
c.3660T>C (p.Asn1220=)
c.3657T>C (p.Asn1219=)
c.3648T>C (p.Asn1216=)
c.3642T>C (p.Asn1214=)
c.3639T>C (p.Asn1213=)
c.3597T>C (p.Asn1199=)
c.3594T>C (p.Asn1198=)
c.2700T>C (p.Asn900=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.50091429A>TCA1654406NRXN1c.3612T>A (p.Asn1204Lys)
n.779T>A
c.499T>A (n.499T>A)
c.507T>A (p.Asn169Lys)
c.3732T>A (p.Asn1244Lys)
c.3576T>A (p.Asn1192Lys)
c.-226T>A (n.-226T>A)
c.3588T>A (p.Asn1196Lys)
n.421T>A
c.3633T>A (p.Asn1211Lys)
c.3630T>A (p.Asn1210Lys)
c.3621T>A (p.Asn1207Lys)
c.3615T>A (p.Asn1205Lys)
c.3606T>A (p.Asn1202Lys)
c.3603T>A (p.Asn1201Lys)
c.3573T>A (p.Asn1191Lys)
c.3543T>A (p.Asn1181Lys)
c.2838T>A (p.Asn946Lys)
c.2793T>A (p.Asn931Lys)
c.2766T>A (p.Asn922Lys)
c.2673T>A (p.Asn891Lys)
c.3546T>A (p.Asn1182Lys)
c.3585T>A (p.Asn1195Lys)
c.3501T>A (p.Asn1167Lys)
c.3531T>A (p.Asn1177Lys)
c.3609T>A (p.Asn1203Lys)
c.3600T>A (p.Asn1200Lys)
c.3561T>A (p.Asn1187Lys)
c.3660T>A (p.Asn1220Lys)
c.3657T>A (p.Asn1219Lys)
c.3648T>A (p.Asn1216Lys)
c.3642T>A (p.Asn1214Lys)
c.3639T>A (p.Asn1213Lys)
c.3597T>A (p.Asn1199Lys)
c.3594T>A (p.Asn1198Lys)
c.2700T>A (p.Asn900Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.50091430T>ACA346819174NRXN1c.3611A>T (p.Asn1204Ile)
n.778A>T
c.498A>T (n.498A>T)
c.506A>T (p.Asn169Ile)
c.3731A>T (p.Asn1244Ile)
c.3575A>T (p.Asn1192Ile)
c.-227A>T (n.-227A>T)
c.3587A>T (p.Asn1196Ile)
n.420A>T
c.3632A>T (p.Asn1211Ile)
c.3629A>T (p.Asn1210Ile)
c.3620A>T (p.Asn1207Ile)
c.3614A>T (p.Asn1205Ile)
c.3605A>T (p.Asn1202Ile)
c.3602A>T (p.Asn1201Ile)
c.3572A>T (p.Asn1191Ile)
c.3542A>T (p.Asn1181Ile)
c.2837A>T (p.Asn946Ile)
c.2792A>T (p.Asn931Ile)
c.2765A>T (p.Asn922Ile)
c.2672A>T (p.Asn891Ile)
c.3545A>T (p.Asn1182Ile)
c.3584A>T (p.Asn1195Ile)
c.3500A>T (p.Asn1167Ile)
c.3530A>T (p.Asn1177Ile)
c.3608A>T (p.Asn1203Ile)
c.3599A>T (p.Asn1200Ile)
c.3560A>T (p.Asn1187Ile)
c.3659A>T (p.Asn1220Ile)
c.3656A>T (p.Asn1219Ile)
c.3647A>T (p.Asn1216Ile)
c.3641A>T (p.Asn1214Ile)
c.3638A>T (p.Asn1213Ile)
c.3596A>T (p.Asn1199Ile)
c.3593A>T (p.Asn1198Ile)
c.2699A>T (p.Asn900Ile)
2g.50091430T>CCA1654408NRXN1c.3611A>G (p.Asn1204Ser)
n.778A>G
c.498A>G (n.498A>G)
c.506A>G (p.Asn169Ser)
c.3731A>G (p.Asn1244Ser)
c.3575A>G (p.Asn1192Ser)
c.-227A>G (n.-227A>G)
c.3587A>G (p.Asn1196Ser)
n.420A>G
c.3632A>G (p.Asn1211Ser)
c.3629A>G (p.Asn1210Ser)
c.3620A>G (p.Asn1207Ser)
c.3614A>G (p.Asn1205Ser)
c.3605A>G (p.Asn1202Ser)
c.3602A>G (p.Asn1201Ser)
c.3572A>G (p.Asn1191Ser)
c.3542A>G (p.Asn1181Ser)
c.2837A>G (p.Asn946Ser)
c.2792A>G (p.Asn931Ser)
c.2765A>G (p.Asn922Ser)
c.2672A>G (p.Asn891Ser)
c.3545A>G (p.Asn1182Ser)
c.3584A>G (p.Asn1195Ser)
c.3500A>G (p.Asn1167Ser)
c.3530A>G (p.Asn1177Ser)
c.3608A>G (p.Asn1203Ser)
c.3599A>G (p.Asn1200Ser)
c.3560A>G (p.Asn1187Ser)
c.3659A>G (p.Asn1220Ser)
c.3656A>G (p.Asn1219Ser)
c.3647A>G (p.Asn1216Ser)
c.3641A>G (p.Asn1214Ser)
c.3638A>G (p.Asn1213Ser)
c.3596A>G (p.Asn1199Ser)
c.3593A>G (p.Asn1198Ser)
c.2699A>G (p.Asn900Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.50091430T>GCA346819175NRXN1c.3611A>C (p.Asn1204Thr)
n.778A>C
c.498A>C (n.498A>C)
c.506A>C (p.Asn169Thr)
c.3731A>C (p.Asn1244Thr)
c.3575A>C (p.Asn1192Thr)
c.-227A>C (n.-227A>C)
c.3587A>C (p.Asn1196Thr)
n.420A>C
c.3632A>C (p.Asn1211Thr)
c.3629A>C (p.Asn1210Thr)
c.3620A>C (p.Asn1207Thr)
c.3614A>C (p.Asn1205Thr)
c.3605A>C (p.Asn1202Thr)
c.3602A>C (p.Asn1201Thr)
c.3572A>C (p.Asn1191Thr)
c.3542A>C (p.Asn1181Thr)
c.2837A>C (p.Asn946Thr)
c.2792A>C (p.Asn931Thr)
c.2765A>C (p.Asn922Thr)
c.2672A>C (p.Asn891Thr)
c.3545A>C (p.Asn1182Thr)
c.3584A>C (p.Asn1195Thr)
c.3500A>C (p.Asn1167Thr)
c.3530A>C (p.Asn1177Thr)
c.3608A>C (p.Asn1203Thr)
c.3599A>C (p.Asn1200Thr)
c.3560A>C (p.Asn1187Thr)
c.3659A>C (p.Asn1220Thr)
c.3656A>C (p.Asn1219Thr)
c.3647A>C (p.Asn1216Thr)
c.3641A>C (p.Asn1214Thr)
c.3638A>C (p.Asn1213Thr)
c.3596A>C (p.Asn1199Thr)
c.3593A>C (p.Asn1198Thr)
c.2699A>C (p.Asn900Thr)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.50091430T=CA1249373446NRXN1c.3611A= (p.Asn1204=)
n.778A=
c.498A= (n.498A=)
c.506A= (p.Asn169=)
c.3731A= (p.Asn1244=)
c.3575A= (p.Asn1192=)
c.-227A= (n.-227A=)
c.3587A= (p.Asn1196=)
n.420A=
c.3632A= (p.Asn1211=)
c.3629A= (p.Asn1210=)
c.3620A= (p.Asn1207=)
c.3614A= (p.Asn1205=)
c.3605A= (p.Asn1202=)
c.3602A= (p.Asn1201=)
c.3572A= (p.Asn1191=)
c.3542A= (p.Asn1181=)
c.2837A= (p.Asn946=)
c.2792A= (p.Asn931=)
c.2765A= (p.Asn922=)
c.2672A= (p.Asn891=)
c.3545A= (p.Asn1182=)
c.3584A= (p.Asn1195=)
c.3500A= (p.Asn1167=)
c.3530A= (p.Asn1177=)
c.3608A= (p.Asn1203=)
c.3599A= (p.Asn1200=)
c.3560A= (p.Asn1187=)
c.3659A= (p.Asn1220=)
c.3656A= (p.Asn1219=)
c.3647A= (p.Asn1216=)
c.3641A= (p.Asn1214=)
c.3638A= (p.Asn1213=)
c.3596A= (p.Asn1199=)
c.3593A= (p.Asn1198=)
c.2699A= (p.Asn900=)
2g.50091431T>ACA346819176NRXN1c.3610A>T (p.Asn1204Tyr)
n.777A>T
c.497A>T (n.497A>T)
c.505A>T (p.Asn169Tyr)
c.3730A>T (p.Asn1244Tyr)
c.3574A>T (p.Asn1192Tyr)
c.-228A>T (n.-228A>T)
c.3586A>T (p.Asn1196Tyr)
n.419A>T
c.3631A>T (p.Asn1211Tyr)
c.3628A>T (p.Asn1210Tyr)
c.3619A>T (p.Asn1207Tyr)
c.3613A>T (p.Asn1205Tyr)
c.3604A>T (p.Asn1202Tyr)
c.3601A>T (p.Asn1201Tyr)
c.3571A>T (p.Asn1191Tyr)
c.3541A>T (p.Asn1181Tyr)
c.2836A>T (p.Asn946Tyr)
c.2791A>T (p.Asn931Tyr)
c.2764A>T (p.Asn922Tyr)
c.2671A>T (p.Asn891Tyr)
c.3544A>T (p.Asn1182Tyr)
c.3583A>T (p.Asn1195Tyr)
c.3499A>T (p.Asn1167Tyr)
c.3529A>T (p.Asn1177Tyr)
c.3607A>T (p.Asn1203Tyr)
c.3598A>T (p.Asn1200Tyr)
c.3559A>T (p.Asn1187Tyr)
c.3658A>T (p.Asn1220Tyr)
c.3655A>T (p.Asn1219Tyr)
c.3646A>T (p.Asn1216Tyr)
c.3640A>T (p.Asn1214Tyr)
c.3637A>T (p.Asn1213Tyr)
c.3595A>T (p.Asn1199Tyr)
c.3592A>T (p.Asn1198Tyr)
c.2698A>T (p.Asn900Tyr)
2g.50091431T>CCA346819177NRXN1c.3610A>G (p.Asn1204Asp)
n.777A>G
c.497A>G (n.497A>G)
c.505A>G (p.Asn169Asp)
c.3730A>G (p.Asn1244Asp)
c.3574A>G (p.Asn1192Asp)
c.-228A>G (n.-228A>G)
c.3586A>G (p.Asn1196Asp)
n.419A>G
c.3631A>G (p.Asn1211Asp)
c.3628A>G (p.Asn1210Asp)
c.3619A>G (p.Asn1207Asp)
c.3613A>G (p.Asn1205Asp)
c.3604A>G (p.Asn1202Asp)
c.3601A>G (p.Asn1201Asp)
c.3571A>G (p.Asn1191Asp)
c.3541A>G (p.Asn1181Asp)
c.2836A>G (p.Asn946Asp)
c.2791A>G (p.Asn931Asp)
c.2764A>G (p.Asn922Asp)
c.2671A>G (p.Asn891Asp)
c.3544A>G (p.Asn1182Asp)
c.3583A>G (p.Asn1195Asp)
c.3499A>G (p.Asn1167Asp)
c.3529A>G (p.Asn1177Asp)
c.3607A>G (p.Asn1203Asp)
c.3598A>G (p.Asn1200Asp)
c.3559A>G (p.Asn1187Asp)
c.3658A>G (p.Asn1220Asp)
c.3655A>G (p.Asn1219Asp)
c.3646A>G (p.Asn1216Asp)
c.3640A>G (p.Asn1214Asp)
c.3637A>G (p.Asn1213Asp)
c.3595A>G (p.Asn1199Asp)
c.3592A>G (p.Asn1198Asp)
c.2698A>G (p.Asn900Asp)
gnomAD v4
2g.50091431T>GCA346819178NRXN1c.3610A>C (p.Asn1204His)
n.777A>C
c.497A>C (n.497A>C)
c.505A>C (p.Asn169His)
c.3730A>C (p.Asn1244His)
c.3574A>C (p.Asn1192His)
c.-228A>C (n.-228A>C)
c.3586A>C (p.Asn1196His)
n.419A>C
c.3631A>C (p.Asn1211His)
c.3628A>C (p.Asn1210His)
c.3619A>C (p.Asn1207His)
c.3613A>C (p.Asn1205His)
c.3604A>C (p.Asn1202His)
c.3601A>C (p.Asn1201His)
c.3571A>C (p.Asn1191His)
c.3541A>C (p.Asn1181His)
c.2836A>C (p.Asn946His)
c.2791A>C (p.Asn931His)
c.2764A>C (p.Asn922His)
c.2671A>C (p.Asn891His)
c.3544A>C (p.Asn1182His)
c.3583A>C (p.Asn1195His)
c.3499A>C (p.Asn1167His)
c.3529A>C (p.Asn1177His)
c.3607A>C (p.Asn1203His)
c.3598A>C (p.Asn1200His)
c.3559A>C (p.Asn1187His)
c.3658A>C (p.Asn1220His)
c.3655A>C (p.Asn1219His)
c.3646A>C (p.Asn1216His)
c.3640A>C (p.Asn1214His)
c.3637A>C (p.Asn1213His)
c.3595A>C (p.Asn1199His)
c.3592A>C (p.Asn1198His)
c.2698A>C (p.Asn900His)
2g.50091432G>ACA426101632NRXN1c.3609C>T (p.Ser1203=)
n.776C>T
c.496C>T (n.496C>T)
c.504C>T (p.Ser168=)
c.3729C>T (p.Ser1243=)
c.3573C>T (p.Ser1191=)
c.-229C>T (n.-229C>T)
c.3585C>T (p.Ser1195=)
n.418C>T
c.3630C>T (p.Ser1210=)
c.3627C>T (p.Ser1209=)
c.3618C>T (p.Ser1206=)
c.3612C>T (p.Ser1204=)
c.3603C>T (p.Ser1201=)
c.3600C>T (p.Ser1200=)
c.3570C>T (p.Ser1190=)
c.3540C>T (p.Ser1180=)
c.2835C>T (p.Ser945=)
c.2790C>T (p.Ser930=)
c.2763C>T (p.Ser921=)
c.2670C>T (p.Ser890=)
c.3543C>T (p.Ser1181=)
c.3582C>T (p.Ser1194=)
c.3498C>T (p.Ser1166=)
c.3528C>T (p.Ser1176=)
c.3606C>T (p.Ser1202=)
c.3597C>T (p.Ser1199=)
c.3558C>T (p.Ser1186=)
c.3657C>T (p.Ser1219=)
c.3654C>T (p.Ser1218=)
c.3645C>T (p.Ser1215=)
c.3639C>T (p.Ser1213=)
c.3636C>T (p.Ser1212=)
c.3594C>T (p.Ser1198=)
c.3591C>T (p.Ser1197=)
c.2697C>T (p.Ser899=)
2g.50091432G>CCA426101633NRXN1c.3609C>G (p.Ser1203=)
n.776C>G
c.496C>G (n.496C>G)
c.504C>G (p.Ser168=)
c.3729C>G (p.Ser1243=)
c.3573C>G (p.Ser1191=)
c.-229C>G (n.-229C>G)
c.3585C>G (p.Ser1195=)
n.418C>G
c.3630C>G (p.Ser1210=)
c.3627C>G (p.Ser1209=)
c.3618C>G (p.Ser1206=)
c.3612C>G (p.Ser1204=)
c.3603C>G (p.Ser1201=)
c.3600C>G (p.Ser1200=)
c.3570C>G (p.Ser1190=)
c.3540C>G (p.Ser1180=)
c.2835C>G (p.Ser945=)
c.2790C>G (p.Ser930=)
c.2763C>G (p.Ser921=)
c.2670C>G (p.Ser890=)
c.3543C>G (p.Ser1181=)
c.3582C>G (p.Ser1194=)
c.3498C>G (p.Ser1166=)
c.3528C>G (p.Ser1176=)
c.3606C>G (p.Ser1202=)
c.3597C>G (p.Ser1199=)
c.3558C>G (p.Ser1186=)
c.3657C>G (p.Ser1219=)
c.3654C>G (p.Ser1218=)
c.3645C>G (p.Ser1215=)
c.3639C>G (p.Ser1213=)
c.3636C>G (p.Ser1212=)
c.3594C>G (p.Ser1198=)
c.3591C>G (p.Ser1197=)
c.2697C>G (p.Ser899=)
2g.50091432G=CA1249373447NRXN1c.3609C= (p.Ser1203=)
n.776C=
c.496C= (n.496C=)
c.504C= (p.Ser168=)
c.3729C= (p.Ser1243=)
c.3573C= (p.Ser1191=)
c.-229C= (n.-229C=)
c.3585C= (p.Ser1195=)
n.418C=
c.3630C= (p.Ser1210=)
c.3627C= (p.Ser1209=)
c.3618C= (p.Ser1206=)
c.3612C= (p.Ser1204=)
c.3603C= (p.Ser1201=)
c.3600C= (p.Ser1200=)
c.3570C= (p.Ser1190=)
c.3540C= (p.Ser1180=)
c.2835C= (p.Ser945=)
c.2790C= (p.Ser930=)
c.2763C= (p.Ser921=)
c.2670C= (p.Ser890=)
c.3543C= (p.Ser1181=)
c.3582C= (p.Ser1194=)
c.3498C= (p.Ser1166=)
c.3528C= (p.Ser1176=)
c.3606C= (p.Ser1202=)
c.3597C= (p.Ser1199=)
c.3558C= (p.Ser1186=)
c.3657C= (p.Ser1219=)
c.3654C= (p.Ser1218=)
c.3645C= (p.Ser1215=)
c.3639C= (p.Ser1213=)
c.3636C= (p.Ser1212=)
c.3594C= (p.Ser1198=)
c.3591C= (p.Ser1197=)
c.2697C= (p.Ser899=)
2g.50091432G>TCA47843158NRXN1c.3609C>A (p.Ser1203=)
n.776C>A
c.496C>A (n.496C>A)
c.504C>A (p.Ser168=)
c.3729C>A (p.Ser1243=)
c.3573C>A (p.Ser1191=)
c.-229C>A (n.-229C>A)
c.3585C>A (p.Ser1195=)
n.418C>A
c.3630C>A (p.Ser1210=)
c.3627C>A (p.Ser1209=)
c.3618C>A (p.Ser1206=)
c.3612C>A (p.Ser1204=)
c.3603C>A (p.Ser1201=)
c.3600C>A (p.Ser1200=)
c.3570C>A (p.Ser1190=)
c.3540C>A (p.Ser1180=)
c.2835C>A (p.Ser945=)
c.2790C>A (p.Ser930=)
c.2763C>A (p.Ser921=)
c.2670C>A (p.Ser890=)
c.3543C>A (p.Ser1181=)
c.3582C>A (p.Ser1194=)
c.3498C>A (p.Ser1166=)
c.3528C>A (p.Ser1176=)
c.3606C>A (p.Ser1202=)
c.3597C>A (p.Ser1199=)
c.3558C>A (p.Ser1186=)
c.3657C>A (p.Ser1219=)
c.3654C>A (p.Ser1218=)
c.3645C>A (p.Ser1215=)
c.3639C>A (p.Ser1213=)
c.3636C>A (p.Ser1212=)
c.3594C>A (p.Ser1198=)
c.3591C>A (p.Ser1197=)
c.2697C>A (p.Ser899=)
dbSNP gnomAD v2 gnomAD v4
2g.50091433G>ACA1654409NRXN1c.3608C>T (p.Ser1203Phe)
n.775C>T
c.495C>T (n.495C>T)
c.503C>T (p.Ser168Phe)
c.3728C>T (p.Ser1243Phe)
c.3572C>T (p.Ser1191Phe)
c.-230C>T (n.-230C>T)
c.3584C>T (p.Ser1195Phe)
n.417C>T
c.3629C>T (p.Ser1210Phe)
c.3626C>T (p.Ser1209Phe)
c.3617C>T (p.Ser1206Phe)
c.3611C>T (p.Ser1204Phe)
c.3602C>T (p.Ser1201Phe)
c.3599C>T (p.Ser1200Phe)
c.3569C>T (p.Ser1190Phe)
c.3539C>T (p.Ser1180Phe)
c.2834C>T (p.Ser945Phe)
c.2789C>T (p.Ser930Phe)
c.2762C>T (p.Ser921Phe)
c.2669C>T (p.Ser890Phe)
c.3542C>T (p.Ser1181Phe)
c.3581C>T (p.Ser1194Phe)
c.3497C>T (p.Ser1166Phe)
c.3527C>T (p.Ser1176Phe)
c.3605C>T (p.Ser1202Phe)
c.3596C>T (p.Ser1199Phe)
c.3557C>T (p.Ser1186Phe)
c.3656C>T (p.Ser1219Phe)
c.3653C>T (p.Ser1218Phe)
c.3644C>T (p.Ser1215Phe)
c.3638C>T (p.Ser1213Phe)
c.3635C>T (p.Ser1212Phe)
c.3593C>T (p.Ser1198Phe)
c.3590C>T (p.Ser1197Phe)
c.2696C>T (p.Ser899Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.50091433G>CCA346819179NRXN1c.3608C>G (p.Ser1203Cys)
n.775C>G
c.495C>G (n.495C>G)
c.503C>G (p.Ser168Cys)
c.3728C>G (p.Ser1243Cys)
c.3572C>G (p.Ser1191Cys)
c.-230C>G (n.-230C>G)
c.3584C>G (p.Ser1195Cys)
n.417C>G
c.3629C>G (p.Ser1210Cys)
c.3626C>G (p.Ser1209Cys)
c.3617C>G (p.Ser1206Cys)
c.3611C>G (p.Ser1204Cys)
c.3602C>G (p.Ser1201Cys)
c.3599C>G (p.Ser1200Cys)
c.3569C>G (p.Ser1190Cys)
c.3539C>G (p.Ser1180Cys)
c.2834C>G (p.Ser945Cys)
c.2789C>G (p.Ser930Cys)
c.2762C>G (p.Ser921Cys)
c.2669C>G (p.Ser890Cys)
c.3542C>G (p.Ser1181Cys)
c.3581C>G (p.Ser1194Cys)
c.3497C>G (p.Ser1166Cys)
c.3527C>G (p.Ser1176Cys)
c.3605C>G (p.Ser1202Cys)
c.3596C>G (p.Ser1199Cys)
c.3557C>G (p.Ser1186Cys)
c.3656C>G (p.Ser1219Cys)
c.3653C>G (p.Ser1218Cys)
c.3644C>G (p.Ser1215Cys)
c.3638C>G (p.Ser1213Cys)
c.3635C>G (p.Ser1212Cys)
c.3593C>G (p.Ser1198Cys)
c.3590C>G (p.Ser1197Cys)
c.2696C>G (p.Ser899Cys)
2g.50091433G=CA1249373448NRXN1c.3608C= (p.Ser1203=)
n.775C=
c.495C= (n.495C=)
c.503C= (p.Ser168=)
c.3728C= (p.Ser1243=)
c.3572C= (p.Ser1191=)
c.-230C= (n.-230C=)
c.3584C= (p.Ser1195=)
n.417C=
c.3629C= (p.Ser1210=)
c.3626C= (p.Ser1209=)
c.3617C= (p.Ser1206=)
c.3611C= (p.Ser1204=)
c.3602C= (p.Ser1201=)
c.3599C= (p.Ser1200=)
c.3569C= (p.Ser1190=)
c.3539C= (p.Ser1180=)
c.2834C= (p.Ser945=)
c.2789C= (p.Ser930=)
c.2762C= (p.Ser921=)
c.2669C= (p.Ser890=)
c.3542C= (p.Ser1181=)
c.3581C= (p.Ser1194=)
c.3497C= (p.Ser1166=)
c.3527C= (p.Ser1176=)
c.3605C= (p.Ser1202=)
c.3596C= (p.Ser1199=)
c.3557C= (p.Ser1186=)
c.3656C= (p.Ser1219=)
c.3653C= (p.Ser1218=)
c.3644C= (p.Ser1215=)
c.3638C= (p.Ser1213=)
c.3635C= (p.Ser1212=)
c.3593C= (p.Ser1198=)
c.3590C= (p.Ser1197=)
c.2696C= (p.Ser899=)
2g.50091433G>TCA346819180NRXN1c.3608C>A (p.Ser1203Tyr)
n.775C>A
c.495C>A (n.495C>A)
c.503C>A (p.Ser168Tyr)
c.3728C>A (p.Ser1243Tyr)
c.3572C>A (p.Ser1191Tyr)
c.-230C>A (n.-230C>A)
c.3584C>A (p.Ser1195Tyr)
n.417C>A
c.3629C>A (p.Ser1210Tyr)
c.3626C>A (p.Ser1209Tyr)
c.3617C>A (p.Ser1206Tyr)
c.3611C>A (p.Ser1204Tyr)
c.3602C>A (p.Ser1201Tyr)
c.3599C>A (p.Ser1200Tyr)
c.3569C>A (p.Ser1190Tyr)
c.3539C>A (p.Ser1180Tyr)
c.2834C>A (p.Ser945Tyr)
c.2789C>A (p.Ser930Tyr)
c.2762C>A (p.Ser921Tyr)
c.2669C>A (p.Ser890Tyr)
c.3542C>A (p.Ser1181Tyr)
c.3581C>A (p.Ser1194Tyr)
c.3497C>A (p.Ser1166Tyr)
c.3527C>A (p.Ser1176Tyr)
c.3605C>A (p.Ser1202Tyr)
c.3596C>A (p.Ser1199Tyr)
c.3557C>A (p.Ser1186Tyr)
c.3656C>A (p.Ser1219Tyr)
c.3653C>A (p.Ser1218Tyr)
c.3644C>A (p.Ser1215Tyr)
c.3638C>A (p.Ser1213Tyr)
c.3635C>A (p.Ser1212Tyr)
c.3593C>A (p.Ser1198Tyr)
c.3590C>A (p.Ser1197Tyr)
c.2696C>A (p.Ser899Tyr)
2g.50091434A>CCA346819181NRXN1c.3607T>G (p.Ser1203Ala)
n.774T>G
c.494T>G (n.494T>G)
c.502T>G (p.Ser168Ala)
c.3727T>G (p.Ser1243Ala)
c.3571T>G (p.Ser1191Ala)
c.-231T>G (n.-231T>G)
c.3583T>G (p.Ser1195Ala)
n.416T>G
c.3628T>G (p.Ser1210Ala)
c.3625T>G (p.Ser1209Ala)
c.3616T>G (p.Ser1206Ala)
c.3610T>G (p.Ser1204Ala)
c.3601T>G (p.Ser1201Ala)
c.3598T>G (p.Ser1200Ala)
c.3568T>G (p.Ser1190Ala)
c.3538T>G (p.Ser1180Ala)
c.2833T>G (p.Ser945Ala)
c.2788T>G (p.Ser930Ala)
c.2761T>G (p.Ser921Ala)
c.2668T>G (p.Ser890Ala)
c.3541T>G (p.Ser1181Ala)
c.3580T>G (p.Ser1194Ala)
c.3496T>G (p.Ser1166Ala)
c.3526T>G (p.Ser1176Ala)
c.3604T>G (p.Ser1202Ala)
c.3595T>G (p.Ser1199Ala)
c.3556T>G (p.Ser1186Ala)
c.3655T>G (p.Ser1219Ala)
c.3652T>G (p.Ser1218Ala)
c.3643T>G (p.Ser1215Ala)
c.3637T>G (p.Ser1213Ala)
c.3634T>G (p.Ser1212Ala)
c.3592T>G (p.Ser1198Ala)
c.3589T>G (p.Ser1197Ala)
c.2695T>G (p.Ser899Ala)
2g.50091434A>GCA346819182NRXN1c.3607T>C (p.Ser1203Pro)
n.774T>C
c.494T>C (n.494T>C)
c.502T>C (p.Ser168Pro)
c.3727T>C (p.Ser1243Pro)
c.3571T>C (p.Ser1191Pro)
c.-231T>C (n.-231T>C)
c.3583T>C (p.Ser1195Pro)
n.416T>C
c.3628T>C (p.Ser1210Pro)
c.3625T>C (p.Ser1209Pro)
c.3616T>C (p.Ser1206Pro)
c.3610T>C (p.Ser1204Pro)
c.3601T>C (p.Ser1201Pro)
c.3598T>C (p.Ser1200Pro)
c.3568T>C (p.Ser1190Pro)
c.3538T>C (p.Ser1180Pro)
c.2833T>C (p.Ser945Pro)
c.2788T>C (p.Ser930Pro)
c.2761T>C (p.Ser921Pro)
c.2668T>C (p.Ser890Pro)
c.3541T>C (p.Ser1181Pro)
c.3580T>C (p.Ser1194Pro)
c.3496T>C (p.Ser1166Pro)
c.3526T>C (p.Ser1176Pro)
c.3604T>C (p.Ser1202Pro)
c.3595T>C (p.Ser1199Pro)
c.3556T>C (p.Ser1186Pro)
c.3655T>C (p.Ser1219Pro)
c.3652T>C (p.Ser1218Pro)
c.3643T>C (p.Ser1215Pro)
c.3637T>C (p.Ser1213Pro)
c.3634T>C (p.Ser1212Pro)
c.3592T>C (p.Ser1198Pro)
c.3589T>C (p.Ser1197Pro)
c.2695T>C (p.Ser899Pro)
2g.50091434A>TCA346819183NRXN1c.3607T>A (p.Ser1203Thr)
n.774T>A
c.494T>A (n.494T>A)
c.502T>A (p.Ser168Thr)
c.3727T>A (p.Ser1243Thr)
c.3571T>A (p.Ser1191Thr)
c.-231T>A (n.-231T>A)
c.3583T>A (p.Ser1195Thr)
n.416T>A
c.3628T>A (p.Ser1210Thr)
c.3625T>A (p.Ser1209Thr)
c.3616T>A (p.Ser1206Thr)
c.3610T>A (p.Ser1204Thr)
c.3601T>A (p.Ser1201Thr)
c.3598T>A (p.Ser1200Thr)
c.3568T>A (p.Ser1190Thr)
c.3538T>A (p.Ser1180Thr)
c.2833T>A (p.Ser945Thr)
c.2788T>A (p.Ser930Thr)
c.2761T>A (p.Ser921Thr)
c.2668T>A (p.Ser890Thr)
c.3541T>A (p.Ser1181Thr)
c.3580T>A (p.Ser1194Thr)
c.3496T>A (p.Ser1166Thr)
c.3526T>A (p.Ser1176Thr)
c.3604T>A (p.Ser1202Thr)
c.3595T>A (p.Ser1199Thr)
c.3556T>A (p.Ser1186Thr)
c.3655T>A (p.Ser1219Thr)
c.3652T>A (p.Ser1218Thr)
c.3643T>A (p.Ser1215Thr)
c.3637T>A (p.Ser1213Thr)
c.3634T>A (p.Ser1212Thr)
c.3592T>A (p.Ser1198Thr)
c.3589T>A (p.Ser1197Thr)
c.2695T>A (p.Ser899Thr)
2g.50091435T>ACA346819184NRXN1c.3606A>T (p.Glu1202Asp)
n.773A>T
c.493A>T (n.493A>T)
c.501A>T (p.Glu167Asp)
c.3726A>T (p.Glu1242Asp)
c.3570A>T (p.Glu1190Asp)
c.-232A>T (n.-232A>T)
c.3582A>T (p.Glu1194Asp)
n.415A>T
c.3627A>T (p.Glu1209Asp)
c.3624A>T (p.Glu1208Asp)
c.3615A>T (p.Glu1205Asp)
c.3609A>T (p.Glu1203Asp)
c.3600A>T (p.Glu1200Asp)
c.3597A>T (p.Glu1199Asp)
c.3567A>T (p.Glu1189Asp)
c.3537A>T (p.Glu1179Asp)
c.2832A>T (p.Glu944Asp)
c.2787A>T (p.Glu929Asp)
c.2760A>T (p.Glu920Asp)
c.2667A>T (p.Glu889Asp)
c.3540A>T (p.Glu1180Asp)
c.3579A>T (p.Glu1193Asp)
c.3495A>T (p.Glu1165Asp)
c.3525A>T (p.Glu1175Asp)
c.3603A>T (p.Glu1201Asp)
c.3594A>T (p.Glu1198Asp)
c.3555A>T (p.Glu1185Asp)
c.3654A>T (p.Glu1218Asp)
c.3651A>T (p.Glu1217Asp)
c.3642A>T (p.Glu1214Asp)
c.3636A>T (p.Glu1212Asp)
c.3633A>T (p.Glu1211Asp)
c.3591A>T (p.Glu1197Asp)
c.3588A>T (p.Glu1196Asp)
c.2694A>T (p.Glu898Asp)
2g.50091435T>CCA426101637NRXN1c.3606A>G (p.Glu1202=)
n.773A>G
c.493A>G (n.493A>G)
c.501A>G (p.Glu167=)
c.3726A>G (p.Glu1242=)
c.3570A>G (p.Glu1190=)
c.-232A>G (n.-232A>G)
c.3582A>G (p.Glu1194=)
n.415A>G
c.3627A>G (p.Glu1209=)
c.3624A>G (p.Glu1208=)
c.3615A>G (p.Glu1205=)
c.3609A>G (p.Glu1203=)
c.3600A>G (p.Glu1200=)
c.3597A>G (p.Glu1199=)
c.3567A>G (p.Glu1189=)
c.3537A>G (p.Glu1179=)
c.2832A>G (p.Glu944=)
c.2787A>G (p.Glu929=)
c.2760A>G (p.Glu920=)
c.2667A>G (p.Glu889=)
c.3540A>G (p.Glu1180=)
c.3579A>G (p.Glu1193=)
c.3495A>G (p.Glu1165=)
c.3525A>G (p.Glu1175=)
c.3603A>G (p.Glu1201=)
c.3594A>G (p.Glu1198=)
c.3555A>G (p.Glu1185=)
c.3654A>G (p.Glu1218=)
c.3651A>G (p.Glu1217=)
c.3642A>G (p.Glu1214=)
c.3636A>G (p.Glu1212=)
c.3633A>G (p.Glu1211=)
c.3591A>G (p.Glu1197=)
c.3588A>G (p.Glu1196=)
c.2694A>G (p.Glu898=)
dbSNP
2g.50091435T>GCA346819185NRXN1c.3606A>C (p.Glu1202Asp)
n.773A>C
c.493A>C (n.493A>C)
c.501A>C (p.Glu167Asp)
c.3726A>C (p.Glu1242Asp)
c.3570A>C (p.Glu1190Asp)
c.-232A>C (n.-232A>C)
c.3582A>C (p.Glu1194Asp)
n.415A>C
c.3627A>C (p.Glu1209Asp)
c.3624A>C (p.Glu1208Asp)
c.3615A>C (p.Glu1205Asp)
c.3609A>C (p.Glu1203Asp)
c.3600A>C (p.Glu1200Asp)
c.3597A>C (p.Glu1199Asp)
c.3567A>C (p.Glu1189Asp)
c.3537A>C (p.Glu1179Asp)
c.2832A>C (p.Glu944Asp)
c.2787A>C (p.Glu929Asp)
c.2760A>C (p.Glu920Asp)
c.2667A>C (p.Glu889Asp)
c.3540A>C (p.Glu1180Asp)
c.3579A>C (p.Glu1193Asp)
c.3495A>C (p.Glu1165Asp)
c.3525A>C (p.Glu1175Asp)
c.3603A>C (p.Glu1201Asp)
c.3594A>C (p.Glu1198Asp)
c.3555A>C (p.Glu1185Asp)
c.3654A>C (p.Glu1218Asp)
c.3651A>C (p.Glu1217Asp)
c.3642A>C (p.Glu1214Asp)
c.3636A>C (p.Glu1212Asp)
c.3633A>C (p.Glu1211Asp)
c.3591A>C (p.Glu1197Asp)
c.3588A>C (p.Glu1196Asp)
c.2694A>C (p.Glu898Asp)
gnomAD v4
2g.50091436T>ACA346819186NRXN1c.3605A>T (p.Glu1202Val)
n.772A>T
c.492A>T (n.492A>T)
c.500A>T (p.Glu167Val)
c.3725A>T (p.Glu1242Val)
c.3569A>T (p.Glu1190Val)
c.-233A>T (n.-233A>T)
c.3581A>T (p.Glu1194Val)
n.414A>T
c.3626A>T (p.Glu1209Val)
c.3623A>T (p.Glu1208Val)
c.3614A>T (p.Glu1205Val)
c.3608A>T (p.Glu1203Val)
c.3599A>T (p.Glu1200Val)
c.3596A>T (p.Glu1199Val)
c.3566A>T (p.Glu1189Val)
c.3536A>T (p.Glu1179Val)
c.2831A>T (p.Glu944Val)
c.2786A>T (p.Glu929Val)
c.2759A>T (p.Glu920Val)
c.2666A>T (p.Glu889Val)
c.3539A>T (p.Glu1180Val)
c.3578A>T (p.Glu1193Val)
c.3494A>T (p.Glu1165Val)
c.3524A>T (p.Glu1175Val)
c.3602A>T (p.Glu1201Val)
c.3593A>T (p.Glu1198Val)
c.3554A>T (p.Glu1185Val)
c.3653A>T (p.Glu1218Val)
c.3650A>T (p.Glu1217Val)
c.3641A>T (p.Glu1214Val)
c.3635A>T (p.Glu1212Val)
c.3632A>T (p.Glu1211Val)
c.3590A>T (p.Glu1197Val)
c.3587A>T (p.Glu1196Val)
c.2693A>T (p.Glu898Val)
2g.50091436T>CCA346819188NRXN1c.3605A>G (p.Glu1202Gly)
n.772A>G
c.492A>G (n.492A>G)
c.500A>G (p.Glu167Gly)
c.3725A>G (p.Glu1242Gly)
c.3569A>G (p.Glu1190Gly)
c.-233A>G (n.-233A>G)
c.3581A>G (p.Glu1194Gly)
n.414A>G
c.3626A>G (p.Glu1209Gly)
c.3623A>G (p.Glu1208Gly)
c.3614A>G (p.Glu1205Gly)
c.3608A>G (p.Glu1203Gly)
c.3599A>G (p.Glu1200Gly)
c.3596A>G (p.Glu1199Gly)
c.3566A>G (p.Glu1189Gly)
c.3536A>G (p.Glu1179Gly)
c.2831A>G (p.Glu944Gly)
c.2786A>G (p.Glu929Gly)
c.2759A>G (p.Glu920Gly)
c.2666A>G (p.Glu889Gly)
c.3539A>G (p.Glu1180Gly)
c.3578A>G (p.Glu1193Gly)
c.3494A>G (p.Glu1165Gly)
c.3524A>G (p.Glu1175Gly)
c.3602A>G (p.Glu1201Gly)
c.3593A>G (p.Glu1198Gly)
c.3554A>G (p.Glu1185Gly)
c.3653A>G (p.Glu1218Gly)
c.3650A>G (p.Glu1217Gly)
c.3641A>G (p.Glu1214Gly)
c.3635A>G (p.Glu1212Gly)
c.3632A>G (p.Glu1211Gly)
c.3590A>G (p.Glu1197Gly)
c.3587A>G (p.Glu1196Gly)
c.2693A>G (p.Glu898Gly)
2g.50091436T>GCA346819187NRXN1c.3605A>C (p.Glu1202Ala)
n.772A>C
c.492A>C (n.492A>C)
c.500A>C (p.Glu167Ala)
c.3725A>C (p.Glu1242Ala)
c.3569A>C (p.Glu1190Ala)
c.-233A>C (n.-233A>C)
c.3581A>C (p.Glu1194Ala)
n.414A>C
c.3626A>C (p.Glu1209Ala)
c.3623A>C (p.Glu1208Ala)
c.3614A>C (p.Glu1205Ala)
c.3608A>C (p.Glu1203Ala)
c.3599A>C (p.Glu1200Ala)
c.3596A>C (p.Glu1199Ala)
c.3566A>C (p.Glu1189Ala)
c.3536A>C (p.Glu1179Ala)
c.2831A>C (p.Glu944Ala)
c.2786A>C (p.Glu929Ala)
c.2759A>C (p.Glu920Ala)
c.2666A>C (p.Glu889Ala)
c.3539A>C (p.Glu1180Ala)
c.3578A>C (p.Glu1193Ala)
c.3494A>C (p.Glu1165Ala)
c.3524A>C (p.Glu1175Ala)
c.3602A>C (p.Glu1201Ala)
c.3593A>C (p.Glu1198Ala)
c.3554A>C (p.Glu1185Ala)
c.3653A>C (p.Glu1218Ala)
c.3650A>C (p.Glu1217Ala)
c.3641A>C (p.Glu1214Ala)
c.3635A>C (p.Glu1212Ala)
c.3632A>C (p.Glu1211Ala)
c.3590A>C (p.Glu1197Ala)
c.3587A>C (p.Glu1196Ala)
c.2693A>C (p.Glu898Ala)
2g.50091437C>ACA346819189NRXN1c.3604G>T (p.Glu1202Ter)
n.771G>T
c.491G>T (n.491G>T)
c.499G>T (p.Glu167Ter)
c.3724G>T (p.Glu1242Ter)
c.3568G>T (p.Glu1190Ter)
c.-234G>T (n.-234G>T)
c.3580G>T (p.Glu1194Ter)
n.413G>T
c.3625G>T (p.Glu1209Ter)
c.3622G>T (p.Glu1208Ter)
c.3613G>T (p.Glu1205Ter)
c.3607G>T (p.Glu1203Ter)
c.3598G>T (p.Glu1200Ter)
c.3595G>T (p.Glu1199Ter)
c.3565G>T (p.Glu1189Ter)
c.3535G>T (p.Glu1179Ter)
c.2830G>T (p.Glu944Ter)
c.2785G>T (p.Glu929Ter)
c.2758G>T (p.Glu920Ter)
c.2665G>T (p.Glu889Ter)
c.3538G>T (p.Glu1180Ter)
c.3577G>T (p.Glu1193Ter)
c.3493G>T (p.Glu1165Ter)
c.3523G>T (p.Glu1175Ter)
c.3601G>T (p.Glu1201Ter)
c.3592G>T (p.Glu1198Ter)
c.3553G>T (p.Glu1185Ter)
c.3652G>T (p.Glu1218Ter)
c.3649G>T (p.Glu1217Ter)
c.3640G>T (p.Glu1214Ter)
c.3634G>T (p.Glu1212Ter)
c.3631G>T (p.Glu1211Ter)
c.3589G>T (p.Glu1197Ter)
c.3586G>T (p.Glu1196Ter)
c.2692G>T (p.Glu898Ter)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.50091437C>GCA346819191NRXN1c.3604G>C (p.Glu1202Gln)
n.771G>C
c.491G>C (n.491G>C)
c.499G>C (p.Glu167Gln)
c.3724G>C (p.Glu1242Gln)
c.3568G>C (p.Glu1190Gln)
c.-234G>C (n.-234G>C)
c.3580G>C (p.Glu1194Gln)
n.413G>C
c.3625G>C (p.Glu1209Gln)
c.3622G>C (p.Glu1208Gln)
c.3613G>C (p.Glu1205Gln)
c.3607G>C (p.Glu1203Gln)
c.3598G>C (p.Glu1200Gln)
c.3595G>C (p.Glu1199Gln)
c.3565G>C (p.Glu1189Gln)
c.3535G>C (p.Glu1179Gln)
c.2830G>C (p.Glu944Gln)
c.2785G>C (p.Glu929Gln)
c.2758G>C (p.Glu920Gln)
c.2665G>C (p.Glu889Gln)
c.3538G>C (p.Glu1180Gln)
c.3577G>C (p.Glu1193Gln)
c.3493G>C (p.Glu1165Gln)
c.3523G>C (p.Glu1175Gln)
c.3601G>C (p.Glu1201Gln)
c.3592G>C (p.Glu1198Gln)
c.3553G>C (p.Glu1185Gln)
c.3652G>C (p.Glu1218Gln)
c.3649G>C (p.Glu1217Gln)
c.3640G>C (p.Glu1214Gln)
c.3634G>C (p.Glu1212Gln)
c.3631G>C (p.Glu1211Gln)
c.3589G>C (p.Glu1197Gln)
c.3586G>C (p.Glu1196Gln)
c.2692G>C (p.Glu898Gln)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.50091437C>TCA346819190NRXN1c.3604G>A (p.Glu1202Lys)
n.771G>A
c.491G>A (n.491G>A)
c.499G>A (p.Glu167Lys)
c.3724G>A (p.Glu1242Lys)
c.3568G>A (p.Glu1190Lys)
c.-234G>A (n.-234G>A)
c.3580G>A (p.Glu1194Lys)
n.413G>A
c.3625G>A (p.Glu1209Lys)
c.3622G>A (p.Glu1208Lys)
c.3613G>A (p.Glu1205Lys)
c.3607G>A (p.Glu1203Lys)
c.3598G>A (p.Glu1200Lys)
c.3595G>A (p.Glu1199Lys)
c.3565G>A (p.Glu1189Lys)
c.3535G>A (p.Glu1179Lys)
c.2830G>A (p.Glu944Lys)
c.2785G>A (p.Glu929Lys)
c.2758G>A (p.Glu920Lys)
c.2665G>A (p.Glu889Lys)
c.3538G>A (p.Glu1180Lys)
c.3577G>A (p.Glu1193Lys)
c.3493G>A (p.Glu1165Lys)
c.3523G>A (p.Glu1175Lys)
c.3601G>A (p.Glu1201Lys)
c.3592G>A (p.Glu1198Lys)
c.3553G>A (p.Glu1185Lys)
c.3652G>A (p.Glu1218Lys)
c.3649G>A (p.Glu1217Lys)
c.3640G>A (p.Glu1214Lys)
c.3634G>A (p.Glu1212Lys)
c.3631G>A (p.Glu1211Lys)
c.3589G>A (p.Glu1197Lys)
c.3586G>A (p.Glu1196Lys)
c.2692G>A (p.Glu898Lys)
2g.50091438T>ACA346819192NRXN1c.3603A>T (p.Glu1201Asp)
n.770A>T
c.490A>T (n.490A>T)
c.498A>T (p.Glu166Asp)
c.3723A>T (p.Glu1241Asp)
c.3567A>T (p.Glu1189Asp)
c.-235A>T (n.-235A>T)
c.3579A>T (p.Glu1193Asp)
n.412A>T
c.3624A>T (p.Glu1208Asp)
c.3621A>T (p.Glu1207Asp)
c.3612A>T (p.Glu1204Asp)
c.3606A>T (p.Glu1202Asp)
c.3597A>T (p.Glu1199Asp)
c.3594A>T (p.Glu1198Asp)
c.3564A>T (p.Glu1188Asp)
c.3534A>T (p.Glu1178Asp)
c.2829A>T (p.Glu943Asp)
c.2784A>T (p.Glu928Asp)
c.2757A>T (p.Glu919Asp)
c.2664A>T (p.Glu888Asp)
c.3537A>T (p.Glu1179Asp)
c.3576A>T (p.Glu1192Asp)
c.3492A>T (p.Glu1164Asp)
c.3522A>T (p.Glu1174Asp)
c.3600A>T (p.Glu1200Asp)
c.3591A>T (p.Glu1197Asp)
c.3552A>T (p.Glu1184Asp)
c.3651A>T (p.Glu1217Asp)
c.3648A>T (p.Glu1216Asp)
c.3639A>T (p.Glu1213Asp)
c.3633A>T (p.Glu1211Asp)
c.3630A>T (p.Glu1210Asp)
c.3588A>T (p.Glu1196Asp)
c.3585A>T (p.Glu1195Asp)
c.2691A>T (p.Glu897Asp)
2g.50091438T>CCA1654410NRXN1c.3603A>G (p.Glu1201=)
n.770A>G
c.490A>G (n.490A>G)
c.498A>G (p.Glu166=)
c.3723A>G (p.Glu1241=)
c.3567A>G (p.Glu1189=)
c.-235A>G (n.-235A>G)
c.3579A>G (p.Glu1193=)
n.412A>G
c.3624A>G (p.Glu1208=)
c.3621A>G (p.Glu1207=)
c.3612A>G (p.Glu1204=)
c.3606A>G (p.Glu1202=)
c.3597A>G (p.Glu1199=)
c.3594A>G (p.Glu1198=)
c.3564A>G (p.Glu1188=)
c.3534A>G (p.Glu1178=)
c.2829A>G (p.Glu943=)
c.2784A>G (p.Glu928=)
c.2757A>G (p.Glu919=)
c.2664A>G (p.Glu888=)
c.3537A>G (p.Glu1179=)
c.3576A>G (p.Glu1192=)
c.3492A>G (p.Glu1164=)
c.3522A>G (p.Glu1174=)
c.3600A>G (p.Glu1200=)
c.3591A>G (p.Glu1197=)
c.3552A>G (p.Glu1184=)
c.3651A>G (p.Glu1217=)
c.3648A>G (p.Glu1216=)
c.3639A>G (p.Glu1213=)
c.3633A>G (p.Glu1211=)
c.3630A>G (p.Glu1210=)
c.3588A>G (p.Glu1196=)
c.3585A>G (p.Glu1195=)
c.2691A>G (p.Glu897=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.50091438T>GCA346819193NRXN1c.3603A>C (p.Glu1201Asp)
n.770A>C
c.490A>C (n.490A>C)
c.498A>C (p.Glu166Asp)
c.3723A>C (p.Glu1241Asp)
c.3567A>C (p.Glu1189Asp)
c.-235A>C (n.-235A>C)
c.3579A>C (p.Glu1193Asp)
n.412A>C
c.3624A>C (p.Glu1208Asp)
c.3621A>C (p.Glu1207Asp)
c.3612A>C (p.Glu1204Asp)
c.3606A>C (p.Glu1202Asp)
c.3597A>C (p.Glu1199Asp)
c.3594A>C (p.Glu1198Asp)
c.3564A>C (p.Glu1188Asp)
c.3534A>C (p.Glu1178Asp)
c.2829A>C (p.Glu943Asp)
c.2784A>C (p.Glu928Asp)
c.2757A>C (p.Glu919Asp)
c.2664A>C (p.Glu888Asp)
c.3537A>C (p.Glu1179Asp)
c.3576A>C (p.Glu1192Asp)
c.3492A>C (p.Glu1164Asp)
c.3522A>C (p.Glu1174Asp)
c.3600A>C (p.Glu1200Asp)
c.3591A>C (p.Glu1197Asp)
c.3552A>C (p.Glu1184Asp)
c.3651A>C (p.Glu1217Asp)
c.3648A>C (p.Glu1216Asp)
c.3639A>C (p.Glu1213Asp)
c.3633A>C (p.Glu1211Asp)
c.3630A>C (p.Glu1210Asp)
c.3588A>C (p.Glu1196Asp)
c.3585A>C (p.Glu1195Asp)
c.2691A>C (p.Glu897Asp)
2g.50091438T=CA1249373449NRXN1c.3603A= (p.Glu1201=)
n.770A=
c.490A= (n.490A=)
c.498A= (p.Glu166=)
c.3723A= (p.Glu1241=)
c.3567A= (p.Glu1189=)
c.-235A= (n.-235A=)
c.3579A= (p.Glu1193=)
n.412A=
c.3624A= (p.Glu1208=)
c.3621A= (p.Glu1207=)
c.3612A= (p.Glu1204=)
c.3606A= (p.Glu1202=)
c.3597A= (p.Glu1199=)
c.3594A= (p.Glu1198=)
c.3564A= (p.Glu1188=)
c.3534A= (p.Glu1178=)
c.2829A= (p.Glu943=)
c.2784A= (p.Glu928=)
c.2757A= (p.Glu919=)
c.2664A= (p.Glu888=)
c.3537A= (p.Glu1179=)
c.3576A= (p.Glu1192=)
c.3492A= (p.Glu1164=)
c.3522A= (p.Glu1174=)
c.3600A= (p.Glu1200=)
c.3591A= (p.Glu1197=)
c.3552A= (p.Glu1184=)
c.3651A= (p.Glu1217=)
c.3648A= (p.Glu1216=)
c.3639A= (p.Glu1213=)
c.3633A= (p.Glu1211=)
c.3630A= (p.Glu1210=)
c.3588A= (p.Glu1196=)
c.3585A= (p.Glu1195=)
c.2691A= (p.Glu897=)
2g.50091439T>ACA346819194NRXN1c.3602A>T (p.Glu1201Val)
n.769A>T
c.489A>T (n.489A>T)
c.497A>T (p.Glu166Val)
c.3722A>T (p.Glu1241Val)
c.3566A>T (p.Glu1189Val)
c.-236A>T (n.-236A>T)
c.3578A>T (p.Glu1193Val)
n.411A>T
c.3623A>T (p.Glu1208Val)
c.3620A>T (p.Glu1207Val)
c.3611A>T (p.Glu1204Val)
c.3605A>T (p.Glu1202Val)
c.3596A>T (p.Glu1199Val)
c.3593A>T (p.Glu1198Val)
c.3563A>T (p.Glu1188Val)
c.3533A>T (p.Glu1178Val)
c.2828A>T (p.Glu943Val)
c.2783A>T (p.Glu928Val)
c.2756A>T (p.Glu919Val)
c.2663A>T (p.Glu888Val)
c.3536A>T (p.Glu1179Val)
c.3575A>T (p.Glu1192Val)
c.3491A>T (p.Glu1164Val)
c.3521A>T (p.Glu1174Val)
c.3599A>T (p.Glu1200Val)
c.3590A>T (p.Glu1197Val)
c.3551A>T (p.Glu1184Val)
c.3650A>T (p.Glu1217Val)
c.3647A>T (p.Glu1216Val)
c.3638A>T (p.Glu1213Val)
c.3632A>T (p.Glu1211Val)
c.3629A>T (p.Glu1210Val)
c.3587A>T (p.Glu1196Val)
c.3584A>T (p.Glu1195Val)
c.2690A>T (p.Glu897Val)
2g.50091439T>CCA346819195NRXN1c.3602A>G (p.Glu1201Gly)
n.769A>G
c.489A>G (n.489A>G)
c.497A>G (p.Glu166Gly)
c.3722A>G (p.Glu1241Gly)
c.3566A>G (p.Glu1189Gly)
c.-236A>G (n.-236A>G)
c.3578A>G (p.Glu1193Gly)
n.411A>G
c.3623A>G (p.Glu1208Gly)
c.3620A>G (p.Glu1207Gly)
c.3611A>G (p.Glu1204Gly)
c.3605A>G (p.Glu1202Gly)
c.3596A>G (p.Glu1199Gly)
c.3593A>G (p.Glu1198Gly)
c.3563A>G (p.Glu1188Gly)
c.3533A>G (p.Glu1178Gly)
c.2828A>G (p.Glu943Gly)
c.2783A>G (p.Glu928Gly)
c.2756A>G (p.Glu919Gly)
c.2663A>G (p.Glu888Gly)
c.3536A>G (p.Glu1179Gly)
c.3575A>G (p.Glu1192Gly)
c.3491A>G (p.Glu1164Gly)
c.3521A>G (p.Glu1174Gly)
c.3599A>G (p.Glu1200Gly)
c.3590A>G (p.Glu1197Gly)
c.3551A>G (p.Glu1184Gly)
c.3650A>G (p.Glu1217Gly)
c.3647A>G (p.Glu1216Gly)
c.3638A>G (p.Glu1213Gly)
c.3632A>G (p.Glu1211Gly)
c.3629A>G (p.Glu1210Gly)
c.3587A>G (p.Glu1196Gly)
c.3584A>G (p.Glu1195Gly)
c.2690A>G (p.Glu897Gly)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.50091439T>GCA346819196NRXN1c.3602A>C (p.Glu1201Ala)
n.769A>C
c.489A>C (n.489A>C)
c.497A>C (p.Glu166Ala)
c.3722A>C (p.Glu1241Ala)
c.3566A>C (p.Glu1189Ala)
c.-236A>C (n.-236A>C)
c.3578A>C (p.Glu1193Ala)
n.411A>C
c.3623A>C (p.Glu1208Ala)
c.3620A>C (p.Glu1207Ala)
c.3611A>C (p.Glu1204Ala)
c.3605A>C (p.Glu1202Ala)
c.3596A>C (p.Glu1199Ala)
c.3593A>C (p.Glu1198Ala)
c.3563A>C (p.Glu1188Ala)
c.3533A>C (p.Glu1178Ala)
c.2828A>C (p.Glu943Ala)
c.2783A>C (p.Glu928Ala)
c.2756A>C (p.Glu919Ala)
c.2663A>C (p.Glu888Ala)
c.3536A>C (p.Glu1179Ala)
c.3575A>C (p.Glu1192Ala)
c.3491A>C (p.Glu1164Ala)
c.3521A>C (p.Glu1174Ala)
c.3599A>C (p.Glu1200Ala)
c.3590A>C (p.Glu1197Ala)
c.3551A>C (p.Glu1184Ala)
c.3650A>C (p.Glu1217Ala)
c.3647A>C (p.Glu1216Ala)
c.3638A>C (p.Glu1213Ala)
c.3632A>C (p.Glu1211Ala)
c.3629A>C (p.Glu1210Ala)
c.3587A>C (p.Glu1196Ala)
c.3584A>C (p.Glu1195Ala)
c.2690A>C (p.Glu897Ala)
2g.50091440C>ACA346819197NRXN1c.3601G>T (p.Glu1201Ter)
n.768G>T
c.488G>T (n.488G>T)
c.496G>T (p.Glu166Ter)
c.3721G>T (p.Glu1241Ter)
c.3565G>T (p.Glu1189Ter)
c.-237G>T (n.-237G>T)
c.3577G>T (p.Glu1193Ter)
n.410G>T
c.3622G>T (p.Glu1208Ter)
c.3619G>T (p.Glu1207Ter)
c.3610G>T (p.Glu1204Ter)
c.3604G>T (p.Glu1202Ter)
c.3595G>T (p.Glu1199Ter)
c.3592G>T (p.Glu1198Ter)
c.3562G>T (p.Glu1188Ter)
c.3532G>T (p.Glu1178Ter)
c.2827G>T (p.Glu943Ter)
c.2782G>T (p.Glu928Ter)
c.2755G>T (p.Glu919Ter)
c.2662G>T (p.Glu888Ter)
c.3535G>T (p.Glu1179Ter)
c.3574G>T (p.Glu1192Ter)
c.3490G>T (p.Glu1164Ter)
c.3520G>T (p.Glu1174Ter)
c.3598G>T (p.Glu1200Ter)
c.3589G>T (p.Glu1197Ter)
c.3550G>T (p.Glu1184Ter)
c.3649G>T (p.Glu1217Ter)
c.3646G>T (p.Glu1216Ter)
c.3637G>T (p.Glu1213Ter)
c.3631G>T (p.Glu1211Ter)
c.3628G>T (p.Glu1210Ter)
c.3586G>T (p.Glu1196Ter)
c.3583G>T (p.Glu1195Ter)
c.2689G>T (p.Glu897Ter)
2g.50091440C=CA1249373450NRXN1c.3601G= (p.Glu1201=)
n.768G=
c.488G= (n.488G=)
c.496G= (p.Glu166=)
c.3721G= (p.Glu1241=)
c.3565G= (p.Glu1189=)
c.-237G= (n.-237G=)
c.3577G= (p.Glu1193=)
n.410G=
c.3622G= (p.Glu1208=)
c.3619G= (p.Glu1207=)
c.3610G= (p.Glu1204=)
c.3604G= (p.Glu1202=)
c.3595G= (p.Glu1199=)
c.3592G= (p.Glu1198=)
c.3562G= (p.Glu1188=)
c.3532G= (p.Glu1178=)
c.2827G= (p.Glu943=)
c.2782G= (p.Glu928=)
c.2755G= (p.Glu919=)
c.2662G= (p.Glu888=)
c.3535G= (p.Glu1179=)
c.3574G= (p.Glu1192=)
c.3490G= (p.Glu1164=)
c.3520G= (p.Glu1174=)
c.3598G= (p.Glu1200=)
c.3589G= (p.Glu1197=)
c.3550G= (p.Glu1184=)
c.3649G= (p.Glu1217=)
c.3646G= (p.Glu1216=)
c.3637G= (p.Glu1213=)
c.3631G= (p.Glu1211=)
c.3628G= (p.Glu1210=)
c.3586G= (p.Glu1196=)
c.3583G= (p.Glu1195=)
c.2689G= (p.Glu897=)
2g.50091440C>GCA346819198NRXN1c.3601G>C (p.Glu1201Gln)
n.768G>C
c.488G>C (n.488G>C)
c.496G>C (p.Glu166Gln)
c.3721G>C (p.Glu1241Gln)
c.3565G>C (p.Glu1189Gln)
c.-237G>C (n.-237G>C)
c.3577G>C (p.Glu1193Gln)
n.410G>C
c.3622G>C (p.Glu1208Gln)
c.3619G>C (p.Glu1207Gln)
c.3610G>C (p.Glu1204Gln)
c.3604G>C (p.Glu1202Gln)
c.3595G>C (p.Glu1199Gln)
c.3592G>C (p.Glu1198Gln)
c.3562G>C (p.Glu1188Gln)
c.3532G>C (p.Glu1178Gln)
c.2827G>C (p.Glu943Gln)
c.2782G>C (p.Glu928Gln)
c.2755G>C (p.Glu919Gln)
c.2662G>C (p.Glu888Gln)
c.3535G>C (p.Glu1179Gln)
c.3574G>C (p.Glu1192Gln)
c.3490G>C (p.Glu1164Gln)
c.3520G>C (p.Glu1174Gln)
c.3598G>C (p.Glu1200Gln)
c.3589G>C (p.Glu1197Gln)
c.3550G>C (p.Glu1184Gln)
c.3649G>C (p.Glu1217Gln)
c.3646G>C (p.Glu1216Gln)
c.3637G>C (p.Glu1213Gln)
c.3631G>C (p.Glu1211Gln)
c.3628G>C (p.Glu1210Gln)
c.3586G>C (p.Glu1196Gln)
c.3583G>C (p.Glu1195Gln)
c.2689G>C (p.Glu897Gln)
2g.50091440C>TCA1654411NRXN1c.3601G>A (p.Glu1201Lys)
n.768G>A
c.488G>A (n.488G>A)
c.496G>A (p.Glu166Lys)
c.3721G>A (p.Glu1241Lys)
c.3565G>A (p.Glu1189Lys)
c.-237G>A (n.-237G>A)
c.3577G>A (p.Glu1193Lys)
n.410G>A
c.3622G>A (p.Glu1208Lys)
c.3619G>A (p.Glu1207Lys)
c.3610G>A (p.Glu1204Lys)
c.3604G>A (p.Glu1202Lys)
c.3595G>A (p.Glu1199Lys)
c.3592G>A (p.Glu1198Lys)
c.3562G>A (p.Glu1188Lys)
c.3532G>A (p.Glu1178Lys)
c.2827G>A (p.Glu943Lys)
c.2782G>A (p.Glu928Lys)
c.2755G>A (p.Glu919Lys)
c.2662G>A (p.Glu888Lys)
c.3535G>A (p.Glu1179Lys)
c.3574G>A (p.Glu1192Lys)
c.3490G>A (p.Glu1164Lys)
c.3520G>A (p.Glu1174Lys)
c.3598G>A (p.Glu1200Lys)
c.3589G>A (p.Glu1197Lys)
c.3550G>A (p.Glu1184Lys)
c.3649G>A (p.Glu1217Lys)
c.3646G>A (p.Glu1216Lys)
c.3637G>A (p.Glu1213Lys)
c.3631G>A (p.Glu1211Lys)
c.3628G>A (p.Glu1210Lys)
c.3586G>A (p.Glu1196Lys)
c.3583G>A (p.Glu1195Lys)
c.2689G>A (p.Glu897Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.50091441A>CCA346819199NRXN1c.3600T>G (p.Ile1200Met)
n.767T>G
c.487T>G (n.487T>G)
c.495T>G (p.Ile165Met)
c.3720T>G (p.Ile1240Met)
c.3564T>G (p.Ile1188Met)
c.-238T>G (n.-238T>G)
c.3576T>G (p.Ile1192Met)
n.409T>G
c.3621T>G (p.Ile1207Met)
c.3618T>G (p.Ile1206Met)
c.3609T>G (p.Ile1203Met)
c.3603T>G (p.Ile1201Met)
c.3594T>G (p.Ile1198Met)
c.3591T>G (p.Ile1197Met)
c.3561T>G (p.Ile1187Met)
c.3531T>G (p.Ile1177Met)
c.2826T>G (p.Ile942Met)
c.2781T>G (p.Ile927Met)
c.2754T>G (p.Ile918Met)
c.2661T>G (p.Ile887Met)
c.3534T>G (p.Ile1178Met)
c.3573T>G (p.Ile1191Met)
c.3489T>G (p.Ile1163Met)
c.3519T>G (p.Ile1173Met)
c.3597T>G (p.Ile1199Met)
c.3588T>G (p.Ile1196Met)
c.3549T>G (p.Ile1183Met)
c.3648T>G (p.Ile1216Met)
c.3645T>G (p.Ile1215Met)
c.3636T>G (p.Ile1212Met)
c.3630T>G (p.Ile1210Met)
c.3627T>G (p.Ile1209Met)
c.3585T>G (p.Ile1195Met)
c.3582T>G (p.Ile1194Met)
c.2688T>G (p.Ile896Met)
2g.50091441A>GCA426101642NRXN1c.3600T>C (p.Ile1200=)
n.767T>C
c.487T>C (n.487T>C)
c.495T>C (p.Ile165=)
c.3720T>C (p.Ile1240=)
c.3564T>C (p.Ile1188=)
c.-238T>C (n.-238T>C)
c.3576T>C (p.Ile1192=)
n.409T>C
c.3621T>C (p.Ile1207=)
c.3618T>C (p.Ile1206=)
c.3609T>C (p.Ile1203=)
c.3603T>C (p.Ile1201=)
c.3594T>C (p.Ile1198=)
c.3591T>C (p.Ile1197=)
c.3561T>C (p.Ile1187=)
c.3531T>C (p.Ile1177=)
c.2826T>C (p.Ile942=)
c.2781T>C (p.Ile927=)
c.2754T>C (p.Ile918=)
c.2661T>C (p.Ile887=)
c.3534T>C (p.Ile1178=)
c.3573T>C (p.Ile1191=)
c.3489T>C (p.Ile1163=)
c.3519T>C (p.Ile1173=)
c.3597T>C (p.Ile1199=)
c.3588T>C (p.Ile1196=)
c.3549T>C (p.Ile1183=)
c.3648T>C (p.Ile1216=)
c.3645T>C (p.Ile1215=)
c.3636T>C (p.Ile1212=)
c.3630T>C (p.Ile1210=)
c.3627T>C (p.Ile1209=)
c.3585T>C (p.Ile1195=)
c.3582T>C (p.Ile1194=)
c.2688T>C (p.Ile896=)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.50091441A>TCA426101641NRXN1c.3600T>A (p.Ile1200=)
n.767T>A
c.487T>A (n.487T>A)
c.495T>A (p.Ile165=)
c.3720T>A (p.Ile1240=)
c.3564T>A (p.Ile1188=)
c.-238T>A (n.-238T>A)
c.3576T>A (p.Ile1192=)
n.409T>A
c.3621T>A (p.Ile1207=)
c.3618T>A (p.Ile1206=)
c.3609T>A (p.Ile1203=)
c.3603T>A (p.Ile1201=)
c.3594T>A (p.Ile1198=)
c.3591T>A (p.Ile1197=)
c.3561T>A (p.Ile1187=)
c.3531T>A (p.Ile1177=)
c.2826T>A (p.Ile942=)
c.2781T>A (p.Ile927=)
c.2754T>A (p.Ile918=)
c.2661T>A (p.Ile887=)
c.3534T>A (p.Ile1178=)
c.3573T>A (p.Ile1191=)
c.3489T>A (p.Ile1163=)
c.3519T>A (p.Ile1173=)
c.3597T>A (p.Ile1199=)
c.3588T>A (p.Ile1196=)
c.3549T>A (p.Ile1183=)
c.3648T>A (p.Ile1216=)
c.3645T>A (p.Ile1215=)
c.3636T>A (p.Ile1212=)
c.3630T>A (p.Ile1210=)
c.3627T>A (p.Ile1209=)
c.3585T>A (p.Ile1195=)
c.3582T>A (p.Ile1194=)
c.2688T>A (p.Ile896=)
2g.50091442A=CA1249373451NRXN1c.3599T= (p.Ile1200=)
n.766T=
c.486T= (n.486T=)
c.494T= (p.Ile165=)
c.3719T= (p.Ile1240=)
c.3563T= (p.Ile1188=)
c.-239T= (n.-239T=)
c.3575T= (p.Ile1192=)
n.408T=
c.3620T= (p.Ile1207=)
c.3617T= (p.Ile1206=)
c.3608T= (p.Ile1203=)
c.3602T= (p.Ile1201=)
c.3593T= (p.Ile1198=)
c.3590T= (p.Ile1197=)
c.3560T= (p.Ile1187=)
c.3530T= (p.Ile1177=)
c.2825T= (p.Ile942=)
c.2780T= (p.Ile927=)
c.2753T= (p.Ile918=)
c.2660T= (p.Ile887=)
c.3533T= (p.Ile1178=)
c.3572T= (p.Ile1191=)
c.3488T= (p.Ile1163=)
c.3518T= (p.Ile1173=)
c.3596T= (p.Ile1199=)
c.3587T= (p.Ile1196=)
c.3548T= (p.Ile1183=)
c.3647T= (p.Ile1216=)
c.3644T= (p.Ile1215=)
c.3635T= (p.Ile1212=)
c.3629T= (p.Ile1210=)
c.3626T= (p.Ile1209=)
c.3584T= (p.Ile1195=)
c.3581T= (p.Ile1194=)
c.2687T= (p.Ile896=)
2g.50091442A>CCA346819201NRXN1c.3599T>G (p.Ile1200Ser)
n.766T>G
c.486T>G (n.486T>G)
c.494T>G (p.Ile165Ser)
c.3719T>G (p.Ile1240Ser)
c.3563T>G (p.Ile1188Ser)
c.-239T>G (n.-239T>G)
c.3575T>G (p.Ile1192Ser)
n.408T>G
c.3620T>G (p.Ile1207Ser)
c.3617T>G (p.Ile1206Ser)
c.3608T>G (p.Ile1203Ser)
c.3602T>G (p.Ile1201Ser)
c.3593T>G (p.Ile1198Ser)
c.3590T>G (p.Ile1197Ser)
c.3560T>G (p.Ile1187Ser)
c.3530T>G (p.Ile1177Ser)
c.2825T>G (p.Ile942Ser)
c.2780T>G (p.Ile927Ser)
c.2753T>G (p.Ile918Ser)
c.2660T>G (p.Ile887Ser)
c.3533T>G (p.Ile1178Ser)
c.3572T>G (p.Ile1191Ser)
c.3488T>G (p.Ile1163Ser)
c.3518T>G (p.Ile1173Ser)
c.3596T>G (p.Ile1199Ser)
c.3587T>G (p.Ile1196Ser)
c.3548T>G (p.Ile1183Ser)
c.3647T>G (p.Ile1216Ser)
c.3644T>G (p.Ile1215Ser)
c.3635T>G (p.Ile1212Ser)
c.3629T>G (p.Ile1210Ser)
c.3626T>G (p.Ile1209Ser)
c.3584T>G (p.Ile1195Ser)
c.3581T>G (p.Ile1194Ser)
c.2687T>G (p.Ile896Ser)
2g.50091442A>GCA47843164NRXN1c.3599T>C (p.Ile1200Thr)
n.766T>C
c.486T>C (n.486T>C)
c.494T>C (p.Ile165Thr)
c.3719T>C (p.Ile1240Thr)
c.3563T>C (p.Ile1188Thr)
c.-239T>C (n.-239T>C)
c.3575T>C (p.Ile1192Thr)
n.408T>C
c.3620T>C (p.Ile1207Thr)
c.3617T>C (p.Ile1206Thr)
c.3608T>C (p.Ile1203Thr)
c.3602T>C (p.Ile1201Thr)
c.3593T>C (p.Ile1198Thr)
c.3590T>C (p.Ile1197Thr)
c.3560T>C (p.Ile1187Thr)
c.3530T>C (p.Ile1177Thr)
c.2825T>C (p.Ile942Thr)
c.2780T>C (p.Ile927Thr)
c.2753T>C (p.Ile918Thr)
c.2660T>C (p.Ile887Thr)
c.3533T>C (p.Ile1178Thr)
c.3572T>C (p.Ile1191Thr)
c.3488T>C (p.Ile1163Thr)
c.3518T>C (p.Ile1173Thr)
c.3596T>C (p.Ile1199Thr)
c.3587T>C (p.Ile1196Thr)
c.3548T>C (p.Ile1183Thr)
c.3647T>C (p.Ile1216Thr)
c.3644T>C (p.Ile1215Thr)
c.3635T>C (p.Ile1212Thr)
c.3629T>C (p.Ile1210Thr)
c.3626T>C (p.Ile1209Thr)
c.3584T>C (p.Ile1195Thr)
c.3581T>C (p.Ile1194Thr)
c.2687T>C (p.Ile896Thr)
ClinVar dbSNP
2g.50091442A>TCA346819200NRXN1c.3599T>A (p.Ile1200Asn)
n.766T>A
c.486T>A (n.486T>A)
c.494T>A (p.Ile165Asn)
c.3719T>A (p.Ile1240Asn)
c.3563T>A (p.Ile1188Asn)
c.-239T>A (n.-239T>A)
c.3575T>A (p.Ile1192Asn)
n.408T>A
c.3620T>A (p.Ile1207Asn)
c.3617T>A (p.Ile1206Asn)
c.3608T>A (p.Ile1203Asn)
c.3602T>A (p.Ile1201Asn)
c.3593T>A (p.Ile1198Asn)
c.3590T>A (p.Ile1197Asn)
c.3560T>A (p.Ile1187Asn)
c.3530T>A (p.Ile1177Asn)
c.2825T>A (p.Ile942Asn)
c.2780T>A (p.Ile927Asn)
c.2753T>A (p.Ile918Asn)
c.2660T>A (p.Ile887Asn)
c.3533T>A (p.Ile1178Asn)
c.3572T>A (p.Ile1191Asn)
c.3488T>A (p.Ile1163Asn)
c.3518T>A (p.Ile1173Asn)
c.3596T>A (p.Ile1199Asn)
c.3587T>A (p.Ile1196Asn)
c.3548T>A (p.Ile1183Asn)
c.3647T>A (p.Ile1216Asn)
c.3644T>A (p.Ile1215Asn)
c.3635T>A (p.Ile1212Asn)
c.3629T>A (p.Ile1210Asn)
c.3626T>A (p.Ile1209Asn)
c.3584T>A (p.Ile1195Asn)
c.3581T>A (p.Ile1194Asn)
c.2687T>A (p.Ile896Asn)
2g.50091443T>ACA346819202NRXN1c.3598A>T (p.Ile1200Phe)
n.765A>T
c.485A>T (n.485A>T)
c.493A>T (p.Ile165Phe)
c.3718A>T (p.Ile1240Phe)
c.3562A>T (p.Ile1188Phe)
c.-240A>T (n.-240A>T)
c.3574A>T (p.Ile1192Phe)
n.407A>T
c.3619A>T (p.Ile1207Phe)
c.3616A>T (p.Ile1206Phe)
c.3607A>T (p.Ile1203Phe)
c.3601A>T (p.Ile1201Phe)
c.3592A>T (p.Ile1198Phe)
c.3589A>T (p.Ile1197Phe)
c.3559A>T (p.Ile1187Phe)
c.3529A>T (p.Ile1177Phe)
c.2824A>T (p.Ile942Phe)
c.2779A>T (p.Ile927Phe)
c.2752A>T (p.Ile918Phe)
c.2659A>T (p.Ile887Phe)
c.3532A>T (p.Ile1178Phe)
c.3571A>T (p.Ile1191Phe)
c.3487A>T (p.Ile1163Phe)
c.3517A>T (p.Ile1173Phe)
c.3595A>T (p.Ile1199Phe)
c.3586A>T (p.Ile1196Phe)
c.3547A>T (p.Ile1183Phe)
c.3646A>T (p.Ile1216Phe)
c.3643A>T (p.Ile1215Phe)
c.3634A>T (p.Ile1212Phe)
c.3628A>T (p.Ile1210Phe)
c.3625A>T (p.Ile1209Phe)
c.3583A>T (p.Ile1195Phe)
c.3580A>T (p.Ile1194Phe)
c.2686A>T (p.Ile896Phe)
2g.50091443T>CCA346819203NRXN1c.3598A>G (p.Ile1200Val)
n.765A>G
c.485A>G (n.485A>G)
c.493A>G (p.Ile165Val)
c.3718A>G (p.Ile1240Val)
c.3562A>G (p.Ile1188Val)
c.-240A>G (n.-240A>G)
c.3574A>G (p.Ile1192Val)
n.407A>G
c.3619A>G (p.Ile1207Val)
c.3616A>G (p.Ile1206Val)
c.3607A>G (p.Ile1203Val)
c.3601A>G (p.Ile1201Val)
c.3592A>G (p.Ile1198Val)
c.3589A>G (p.Ile1197Val)
c.3559A>G (p.Ile1187Val)
c.3529A>G (p.Ile1177Val)
c.2824A>G (p.Ile942Val)
c.2779A>G (p.Ile927Val)
c.2752A>G (p.Ile918Val)
c.2659A>G (p.Ile887Val)
c.3532A>G (p.Ile1178Val)
c.3571A>G (p.Ile1191Val)
c.3487A>G (p.Ile1163Val)
c.3517A>G (p.Ile1173Val)
c.3595A>G (p.Ile1199Val)
c.3586A>G (p.Ile1196Val)
c.3547A>G (p.Ile1183Val)
c.3646A>G (p.Ile1216Val)
c.3643A>G (p.Ile1215Val)
c.3634A>G (p.Ile1212Val)
c.3628A>G (p.Ile1210Val)
c.3625A>G (p.Ile1209Val)
c.3583A>G (p.Ile1195Val)
c.3580A>G (p.Ile1194Val)
c.2686A>G (p.Ile896Val)
2g.50091443T>GCA346819204NRXN1c.3598A>C (p.Ile1200Leu)
n.765A>C
c.485A>C (n.485A>C)
c.493A>C (p.Ile165Leu)
c.3718A>C (p.Ile1240Leu)
c.3562A>C (p.Ile1188Leu)
c.-240A>C (n.-240A>C)
c.3574A>C (p.Ile1192Leu)
n.407A>C
c.3619A>C (p.Ile1207Leu)
c.3616A>C (p.Ile1206Leu)
c.3607A>C (p.Ile1203Leu)
c.3601A>C (p.Ile1201Leu)
c.3592A>C (p.Ile1198Leu)
c.3589A>C (p.Ile1197Leu)
c.3559A>C (p.Ile1187Leu)
c.3529A>C (p.Ile1177Leu)
c.2824A>C (p.Ile942Leu)
c.2779A>C (p.Ile927Leu)
c.2752A>C (p.Ile918Leu)
c.2659A>C (p.Ile887Leu)
c.3532A>C (p.Ile1178Leu)
c.3571A>C (p.Ile1191Leu)
c.3487A>C (p.Ile1163Leu)
c.3517A>C (p.Ile1173Leu)
c.3595A>C (p.Ile1199Leu)
c.3586A>C (p.Ile1196Leu)
c.3547A>C (p.Ile1183Leu)
c.3646A>C (p.Ile1216Leu)
c.3643A>C (p.Ile1215Leu)
c.3634A>C (p.Ile1212Leu)
c.3628A>C (p.Ile1210Leu)
c.3625A>C (p.Ile1209Leu)
c.3583A>C (p.Ile1195Leu)
c.3580A>C (p.Ile1194Leu)
c.2686A>C (p.Ile896Leu)
2g.50091444G>ACA426101646NRXN1c.3597C>T (p.Ala1199=)
n.764C>T
c.484C>T (n.484C>T)
c.492C>T (p.Ala164=)
c.3717C>T (p.Ala1239=)
c.3561C>T (p.Ala1187=)
c.-241C>T (n.-241C>T)
c.3573C>T (p.Ala1191=)
n.406C>T
c.3618C>T (p.Ala1206=)
c.3615C>T (p.Ala1205=)
c.3606C>T (p.Ala1202=)
c.3600C>T (p.Ala1200=)
c.3591C>T (p.Ala1197=)
c.3588C>T (p.Ala1196=)
c.3558C>T (p.Ala1186=)
c.3528C>T (p.Ala1176=)
c.2823C>T (p.Ala941=)
c.2778C>T (p.Ala926=)
c.2751C>T (p.Ala917=)
c.2658C>T (p.Ala886=)
c.3531C>T (p.Ala1177=)
c.3570C>T (p.Ala1190=)
c.3486C>T (p.Ala1162=)
c.3516C>T (p.Ala1172=)
c.3594C>T (p.Ala1198=)
c.3585C>T (p.Ala1195=)
c.3546C>T (p.Ala1182=)
c.3645C>T (p.Ala1215=)
c.3642C>T (p.Ala1214=)
c.3633C>T (p.Ala1211=)
c.3627C>T (p.Ala1209=)
c.3624C>T (p.Ala1208=)
c.3582C>T (p.Ala1194=)
c.3579C>T (p.Ala1193=)
c.2685C>T (p.Ala895=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.50091444G>CCA426101647NRXN1c.3597C>G (p.Ala1199=)
n.764C>G
c.484C>G (n.484C>G)
c.492C>G (p.Ala164=)
c.3717C>G (p.Ala1239=)
c.3561C>G (p.Ala1187=)
c.-241C>G (n.-241C>G)
c.3573C>G (p.Ala1191=)
n.406C>G
c.3618C>G (p.Ala1206=)
c.3615C>G (p.Ala1205=)
c.3606C>G (p.Ala1202=)
c.3600C>G (p.Ala1200=)
c.3591C>G (p.Ala1197=)
c.3588C>G (p.Ala1196=)
c.3558C>G (p.Ala1186=)
c.3528C>G (p.Ala1176=)
c.2823C>G (p.Ala941=)
c.2778C>G (p.Ala926=)
c.2751C>G (p.Ala917=)
c.2658C>G (p.Ala886=)
c.3531C>G (p.Ala1177=)
c.3570C>G (p.Ala1190=)
c.3486C>G (p.Ala1162=)
c.3516C>G (p.Ala1172=)
c.3594C>G (p.Ala1198=)
c.3585C>G (p.Ala1195=)
c.3546C>G (p.Ala1182=)
c.3645C>G (p.Ala1215=)
c.3642C>G (p.Ala1214=)
c.3633C>G (p.Ala1211=)
c.3627C>G (p.Ala1209=)
c.3624C>G (p.Ala1208=)
c.3582C>G (p.Ala1194=)
c.3579C>G (p.Ala1193=)
c.2685C>G (p.Ala895=)
2g.50091444G=CA1249373452NRXN1c.3597C= (p.Ala1199=)
n.764C=
c.484C= (n.484C=)
c.492C= (p.Ala164=)
c.3717C= (p.Ala1239=)
c.3561C= (p.Ala1187=)
c.-241C= (n.-241C=)
c.3573C= (p.Ala1191=)
n.406C=
c.3618C= (p.Ala1206=)
c.3615C= (p.Ala1205=)
c.3606C= (p.Ala1202=)
c.3600C= (p.Ala1200=)
c.3591C= (p.Ala1197=)
c.3588C= (p.Ala1196=)
c.3558C= (p.Ala1186=)
c.3528C= (p.Ala1176=)
c.2823C= (p.Ala941=)
c.2778C= (p.Ala926=)
c.2751C= (p.Ala917=)
c.2658C= (p.Ala886=)
c.3531C= (p.Ala1177=)
c.3570C= (p.Ala1190=)
c.3486C= (p.Ala1162=)
c.3516C= (p.Ala1172=)
c.3594C= (p.Ala1198=)
c.3585C= (p.Ala1195=)
c.3546C= (p.Ala1182=)
c.3645C= (p.Ala1215=)
c.3642C= (p.Ala1214=)
c.3633C= (p.Ala1211=)
c.3627C= (p.Ala1209=)
c.3624C= (p.Ala1208=)
c.3582C= (p.Ala1194=)
c.3579C= (p.Ala1193=)
c.2685C= (p.Ala895=)
2g.50091444G>TCA426101648NRXN1c.3597C>A (p.Ala1199=)
n.764C>A
c.484C>A (n.484C>A)
c.492C>A (p.Ala164=)
c.3717C>A (p.Ala1239=)
c.3561C>A (p.Ala1187=)
c.-241C>A (n.-241C>A)
c.3573C>A (p.Ala1191=)
n.406C>A
c.3618C>A (p.Ala1206=)
c.3615C>A (p.Ala1205=)
c.3606C>A (p.Ala1202=)
c.3600C>A (p.Ala1200=)
c.3591C>A (p.Ala1197=)
c.3588C>A (p.Ala1196=)
c.3558C>A (p.Ala1186=)
c.3528C>A (p.Ala1176=)
c.2823C>A (p.Ala941=)
c.2778C>A (p.Ala926=)
c.2751C>A (p.Ala917=)
c.2658C>A (p.Ala886=)
c.3531C>A (p.Ala1177=)
c.3570C>A (p.Ala1190=)
c.3486C>A (p.Ala1162=)
c.3516C>A (p.Ala1172=)
c.3594C>A (p.Ala1198=)
c.3585C>A (p.Ala1195=)
c.3546C>A (p.Ala1182=)
c.3645C>A (p.Ala1215=)
c.3642C>A (p.Ala1214=)
c.3633C>A (p.Ala1211=)
c.3627C>A (p.Ala1209=)
c.3624C>A (p.Ala1208=)
c.3582C>A (p.Ala1194=)
c.3579C>A (p.Ala1193=)
c.2685C>A (p.Ala895=)
2g.50091445G>ACA346819205NRXN1c.3596C>T (p.Ala1199Val)
n.763C>T
c.483C>T (n.483C>T)
c.491C>T (p.Ala164Val)
c.3716C>T (p.Ala1239Val)
c.3560C>T (p.Ala1187Val)
c.-242C>T (n.-242C>T)
c.3572C>T (p.Ala1191Val)
n.405C>T
c.3617C>T (p.Ala1206Val)
c.3614C>T (p.Ala1205Val)
c.3605C>T (p.Ala1202Val)
c.3599C>T (p.Ala1200Val)
c.3590C>T (p.Ala1197Val)
c.3587C>T (p.Ala1196Val)
c.3557C>T (p.Ala1186Val)
c.3527C>T (p.Ala1176Val)
c.2822C>T (p.Ala941Val)
c.2777C>T (p.Ala926Val)
c.2750C>T (p.Ala917Val)
c.2657C>T (p.Ala886Val)
c.3530C>T (p.Ala1177Val)
c.3569C>T (p.Ala1190Val)
c.3485C>T (p.Ala1162Val)
c.3515C>T (p.Ala1172Val)
c.3593C>T (p.Ala1198Val)
c.3584C>T (p.Ala1195Val)
c.3545C>T (p.Ala1182Val)
c.3644C>T (p.Ala1215Val)
c.3641C>T (p.Ala1214Val)
c.3632C>T (p.Ala1211Val)
c.3626C>T (p.Ala1209Val)
c.3623C>T (p.Ala1208Val)
c.3581C>T (p.Ala1194Val)
c.3578C>T (p.Ala1193Val)
c.2684C>T (p.Ala895Val)
ClinVar gnomAD v4
2g.50091445G>CCA346819206NRXN1c.3596C>G (p.Ala1199Gly)
n.763C>G
c.483C>G (n.483C>G)
c.491C>G (p.Ala164Gly)
c.3716C>G (p.Ala1239Gly)
c.3560C>G (p.Ala1187Gly)
c.-242C>G (n.-242C>G)
c.3572C>G (p.Ala1191Gly)
n.405C>G
c.3617C>G (p.Ala1206Gly)
c.3614C>G (p.Ala1205Gly)
c.3605C>G (p.Ala1202Gly)
c.3599C>G (p.Ala1200Gly)
c.3590C>G (p.Ala1197Gly)
c.3587C>G (p.Ala1196Gly)
c.3557C>G (p.Ala1186Gly)
c.3527C>G (p.Ala1176Gly)
c.2822C>G (p.Ala941Gly)
c.2777C>G (p.Ala926Gly)
c.2750C>G (p.Ala917Gly)
c.2657C>G (p.Ala886Gly)
c.3530C>G (p.Ala1177Gly)
c.3569C>G (p.Ala1190Gly)
c.3485C>G (p.Ala1162Gly)
c.3515C>G (p.Ala1172Gly)
c.3593C>G (p.Ala1198Gly)
c.3584C>G (p.Ala1195Gly)
c.3545C>G (p.Ala1182Gly)
c.3644C>G (p.Ala1215Gly)
c.3641C>G (p.Ala1214Gly)
c.3632C>G (p.Ala1211Gly)
c.3626C>G (p.Ala1209Gly)
c.3623C>G (p.Ala1208Gly)
c.3581C>G (p.Ala1194Gly)
c.3578C>G (p.Ala1193Gly)
c.2684C>G (p.Ala895Gly)
2g.50091445G>TCA346819207NRXN1c.3596C>A (p.Ala1199Asp)
n.763C>A
c.483C>A (n.483C>A)
c.491C>A (p.Ala164Asp)
c.3716C>A (p.Ala1239Asp)
c.3560C>A (p.Ala1187Asp)
c.-242C>A (n.-242C>A)
c.3572C>A (p.Ala1191Asp)
n.405C>A
c.3617C>A (p.Ala1206Asp)
c.3614C>A (p.Ala1205Asp)
c.3605C>A (p.Ala1202Asp)
c.3599C>A (p.Ala1200Asp)
c.3590C>A (p.Ala1197Asp)
c.3587C>A (p.Ala1196Asp)
c.3557C>A (p.Ala1186Asp)
c.3527C>A (p.Ala1176Asp)
c.2822C>A (p.Ala941Asp)
c.2777C>A (p.Ala926Asp)
c.2750C>A (p.Ala917Asp)
c.2657C>A (p.Ala886Asp)
c.3530C>A (p.Ala1177Asp)
c.3569C>A (p.Ala1190Asp)
c.3485C>A (p.Ala1162Asp)
c.3515C>A (p.Ala1172Asp)
c.3593C>A (p.Ala1198Asp)
c.3584C>A (p.Ala1195Asp)
c.3545C>A (p.Ala1182Asp)
c.3644C>A (p.Ala1215Asp)
c.3641C>A (p.Ala1214Asp)
c.3632C>A (p.Ala1211Asp)
c.3626C>A (p.Ala1209Asp)
c.3623C>A (p.Ala1208Asp)
c.3581C>A (p.Ala1194Asp)
c.3578C>A (p.Ala1193Asp)
c.2684C>A (p.Ala895Asp)
2g.50091446C>ACA346819208NRXN1c.3595G>T (p.Ala1199Ser)
n.762G>T
c.482G>T (n.482G>T)
c.490G>T (p.Ala164Ser)
c.3715G>T (p.Ala1239Ser)
c.3559G>T (p.Ala1187Ser)
c.-243G>T (n.-243G>T)
c.3571G>T (p.Ala1191Ser)
n.404G>T
c.3616G>T (p.Ala1206Ser)
c.3613G>T (p.Ala1205Ser)
c.3604G>T (p.Ala1202Ser)
c.3598G>T (p.Ala1200Ser)
c.3589G>T (p.Ala1197Ser)
c.3586G>T (p.Ala1196Ser)
c.3556G>T (p.Ala1186Ser)
c.3526G>T (p.Ala1176Ser)
c.2821G>T (p.Ala941Ser)
c.2776G>T (p.Ala926Ser)
c.2749G>T (p.Ala917Ser)
c.2656G>T (p.Ala886Ser)
c.3529G>T (p.Ala1177Ser)
c.3568G>T (p.Ala1190Ser)
c.3484G>T (p.Ala1162Ser)
c.3514G>T (p.Ala1172Ser)
c.3592G>T (p.Ala1198Ser)
c.3583G>T (p.Ala1195Ser)
c.3544G>T (p.Ala1182Ser)
c.3643G>T (p.Ala1215Ser)
c.3640G>T (p.Ala1214Ser)
c.3631G>T (p.Ala1211Ser)
c.3625G>T (p.Ala1209Ser)
c.3622G>T (p.Ala1208Ser)
c.3580G>T (p.Ala1194Ser)
c.3577G>T (p.Ala1193Ser)
c.2683G>T (p.Ala895Ser)
2g.50091446C=CA1249373453NRXN1c.3595G= (p.Ala1199=)
n.762G=
c.482G= (n.482G=)
c.490G= (p.Ala164=)
c.3715G= (p.Ala1239=)
c.3559G= (p.Ala1187=)
c.-243G= (n.-243G=)
c.3571G= (p.Ala1191=)
n.404G=
c.3616G= (p.Ala1206=)
c.3613G= (p.Ala1205=)
c.3604G= (p.Ala1202=)
c.3598G= (p.Ala1200=)
c.3589G= (p.Ala1197=)
c.3586G= (p.Ala1196=)
c.3556G= (p.Ala1186=)
c.3526G= (p.Ala1176=)
c.2821G= (p.Ala941=)
c.2776G= (p.Ala926=)
c.2749G= (p.Ala917=)
c.2656G= (p.Ala886=)
c.3529G= (p.Ala1177=)
c.3568G= (p.Ala1190=)
c.3484G= (p.Ala1162=)
c.3514G= (p.Ala1172=)
c.3592G= (p.Ala1198=)
c.3583G= (p.Ala1195=)
c.3544G= (p.Ala1182=)
c.3643G= (p.Ala1215=)
c.3640G= (p.Ala1214=)
c.3631G= (p.Ala1211=)
c.3625G= (p.Ala1209=)
c.3622G= (p.Ala1208=)
c.3580G= (p.Ala1194=)
c.3577G= (p.Ala1193=)
c.2683G= (p.Ala895=)
2g.50091446C>GCA346819209NRXN1c.3595G>C (p.Ala1199Pro)
n.762G>C
c.482G>C (n.482G>C)
c.490G>C (p.Ala164Pro)
c.3715G>C (p.Ala1239Pro)
c.3559G>C (p.Ala1187Pro)
c.-243G>C (n.-243G>C)
c.3571G>C (p.Ala1191Pro)
n.404G>C
c.3616G>C (p.Ala1206Pro)
c.3613G>C (p.Ala1205Pro)
c.3604G>C (p.Ala1202Pro)
c.3598G>C (p.Ala1200Pro)
c.3589G>C (p.Ala1197Pro)
c.3586G>C (p.Ala1196Pro)
c.3556G>C (p.Ala1186Pro)
c.3526G>C (p.Ala1176Pro)
c.2821G>C (p.Ala941Pro)
c.2776G>C (p.Ala926Pro)
c.2749G>C (p.Ala917Pro)
c.2656G>C (p.Ala886Pro)
c.3529G>C (p.Ala1177Pro)
c.3568G>C (p.Ala1190Pro)
c.3484G>C (p.Ala1162Pro)
c.3514G>C (p.Ala1172Pro)
c.3592G>C (p.Ala1198Pro)
c.3583G>C (p.Ala1195Pro)
c.3544G>C (p.Ala1182Pro)
c.3643G>C (p.Ala1215Pro)
c.3640G>C (p.Ala1214Pro)
c.3631G>C (p.Ala1211Pro)
c.3625G>C (p.Ala1209Pro)
c.3622G>C (p.Ala1208Pro)
c.3580G>C (p.Ala1194Pro)
c.3577G>C (p.Ala1193Pro)
c.2683G>C (p.Ala895Pro)
2g.50091446C>TCA316173NRXN1c.3595G>A (p.Ala1199Thr)
n.762G>A
c.482G>A (n.482G>A)
c.490G>A (p.Ala164Thr)
c.3715G>A (p.Ala1239Thr)
c.3559G>A (p.Ala1187Thr)
c.-243G>A (n.-243G>A)
c.3571G>A (p.Ala1191Thr)
n.404G>A
c.3616G>A (p.Ala1206Thr)
c.3613G>A (p.Ala1205Thr)
c.3604G>A (p.Ala1202Thr)
c.3598G>A (p.Ala1200Thr)
c.3589G>A (p.Ala1197Thr)
c.3586G>A (p.Ala1196Thr)
c.3556G>A (p.Ala1186Thr)
c.3526G>A (p.Ala1176Thr)
c.2821G>A (p.Ala941Thr)
c.2776G>A (p.Ala926Thr)
c.2749G>A (p.Ala917Thr)
c.2656G>A (p.Ala886Thr)
c.3529G>A (p.Ala1177Thr)
c.3568G>A (p.Ala1190Thr)
c.3484G>A (p.Ala1162Thr)
c.3514G>A (p.Ala1172Thr)
c.3592G>A (p.Ala1198Thr)
c.3583G>A (p.Ala1195Thr)
c.3544G>A (p.Ala1182Thr)
c.3643G>A (p.Ala1215Thr)
c.3640G>A (p.Ala1214Thr)
c.3631G>A (p.Ala1211Thr)
c.3625G>A (p.Ala1209Thr)
c.3622G>A (p.Ala1208Thr)
c.3580G>A (p.Ala1194Thr)
c.3577G>A (p.Ala1193Thr)
c.2683G>A (p.Ala895Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
2g.50091447G>ACA426101653NRXN1c.3594C>T (p.Ile1198=)
n.761C>T
c.481C>T (n.481C>T)
c.489C>T (p.Ile163=)
c.3714C>T (p.Ile1238=)
c.3558C>T (p.Ile1186=)
c.-244C>T (n.-244C>T)
c.3570C>T (p.Ile1190=)
n.403C>T
c.3615C>T (p.Ile1205=)
c.3612C>T (p.Ile1204=)
c.3603C>T (p.Ile1201=)
c.3597C>T (p.Ile1199=)
c.3588C>T (p.Ile1196=)
c.3585C>T (p.Ile1195=)
c.3555C>T (p.Ile1185=)
c.3525C>T (p.Ile1175=)
c.2820C>T (p.Ile940=)
c.2775C>T (p.Ile925=)
c.2748C>T (p.Ile916=)
c.2655C>T (p.Ile885=)
c.3528C>T (p.Ile1176=)
c.3567C>T (p.Ile1189=)
c.3483C>T (p.Ile1161=)
c.3513C>T (p.Ile1171=)
c.3591C>T (p.Ile1197=)
c.3582C>T (p.Ile1194=)
c.3543C>T (p.Ile1181=)
c.3642C>T (p.Ile1214=)
c.3639C>T (p.Ile1213=)
c.3630C>T (p.Ile1210=)
c.3624C>T (p.Ile1208=)
c.3621C>T (p.Ile1207=)
c.3579C>T (p.Ile1193=)
c.3576C>T (p.Ile1192=)
c.2682C>T (p.Ile894=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.50091447G>CCA346819210NRXN1c.3594C>G (p.Ile1198Met)
n.761C>G
c.481C>G (n.481C>G)
c.489C>G (p.Ile163Met)
c.3714C>G (p.Ile1238Met)
c.3558C>G (p.Ile1186Met)
c.-244C>G (n.-244C>G)
c.3570C>G (p.Ile1190Met)
n.403C>G
c.3615C>G (p.Ile1205Met)
c.3612C>G (p.Ile1204Met)
c.3603C>G (p.Ile1201Met)
c.3597C>G (p.Ile1199Met)
c.3588C>G (p.Ile1196Met)
c.3585C>G (p.Ile1195Met)
c.3555C>G (p.Ile1185Met)
c.3525C>G (p.Ile1175Met)
c.2820C>G (p.Ile940Met)
c.2775C>G (p.Ile925Met)
c.2748C>G (p.Ile916Met)
c.2655C>G (p.Ile885Met)
c.3528C>G (p.Ile1176Met)
c.3567C>G (p.Ile1189Met)
c.3483C>G (p.Ile1161Met)
c.3513C>G (p.Ile1171Met)
c.3591C>G (p.Ile1197Met)
c.3582C>G (p.Ile1194Met)
c.3543C>G (p.Ile1181Met)
c.3642C>G (p.Ile1214Met)
c.3639C>G (p.Ile1213Met)
c.3630C>G (p.Ile1210Met)
c.3624C>G (p.Ile1208Met)
c.3621C>G (p.Ile1207Met)
c.3579C>G (p.Ile1193Met)
c.3576C>G (p.Ile1192Met)
c.2682C>G (p.Ile894Met)
2g.50091447G=CA1249373454NRXN1c.3594C= (p.Ile1198=)
n.761C=
c.481C= (n.481C=)
c.489C= (p.Ile163=)
c.3714C= (p.Ile1238=)
c.3558C= (p.Ile1186=)
c.-244C= (n.-244C=)
c.3570C= (p.Ile1190=)
n.403C=
c.3615C= (p.Ile1205=)
c.3612C= (p.Ile1204=)
c.3603C= (p.Ile1201=)
c.3597C= (p.Ile1199=)
c.3588C= (p.Ile1196=)
c.3585C= (p.Ile1195=)
c.3555C= (p.Ile1185=)
c.3525C= (p.Ile1175=)
c.2820C= (p.Ile940=)
c.2775C= (p.Ile925=)
c.2748C= (p.Ile916=)
c.2655C= (p.Ile885=)
c.3528C= (p.Ile1176=)
c.3567C= (p.Ile1189=)
c.3483C= (p.Ile1161=)
c.3513C= (p.Ile1171=)
c.3591C= (p.Ile1197=)
c.3582C= (p.Ile1194=)
c.3543C= (p.Ile1181=)
c.3642C= (p.Ile1214=)
c.3639C= (p.Ile1213=)
c.3630C= (p.Ile1210=)
c.3624C= (p.Ile1208=)
c.3621C= (p.Ile1207=)
c.3579C= (p.Ile1193=)
c.3576C= (p.Ile1192=)
c.2682C= (p.Ile894=)
2g.50091447G>TCA1654412NRXN1c.3594C>A (p.Ile1198=)
n.761C>A
c.481C>A (n.481C>A)
c.489C>A (p.Ile163=)
c.3714C>A (p.Ile1238=)
c.3558C>A (p.Ile1186=)
c.-244C>A (n.-244C>A)
c.3570C>A (p.Ile1190=)
n.403C>A
c.3615C>A (p.Ile1205=)
c.3612C>A (p.Ile1204=)
c.3603C>A (p.Ile1201=)
c.3597C>A (p.Ile1199=)
c.3588C>A (p.Ile1196=)
c.3585C>A (p.Ile1195=)
c.3555C>A (p.Ile1185=)
c.3525C>A (p.Ile1175=)
c.2820C>A (p.Ile940=)
c.2775C>A (p.Ile925=)
c.2748C>A (p.Ile916=)
c.2655C>A (p.Ile885=)
c.3528C>A (p.Ile1176=)
c.3567C>A (p.Ile1189=)
c.3483C>A (p.Ile1161=)
c.3513C>A (p.Ile1171=)
c.3591C>A (p.Ile1197=)
c.3582C>A (p.Ile1194=)
c.3543C>A (p.Ile1181=)
c.3642C>A (p.Ile1214=)
c.3639C>A (p.Ile1213=)
c.3630C>A (p.Ile1210=)
c.3624C>A (p.Ile1208=)
c.3621C>A (p.Ile1207=)
c.3579C>A (p.Ile1193=)
c.3576C>A (p.Ile1192=)
c.2682C>A (p.Ile894=)
dbSNP ExAC gnomAD v3 gnomAD v4
2g.50091448A>CCA346819212NRXN1c.3593T>G (p.Ile1198Ser)
n.760T>G
c.480T>G (n.480T>G)
c.488T>G (p.Ile163Ser)
c.3713T>G (p.Ile1238Ser)
c.3557T>G (p.Ile1186Ser)
c.-245T>G (n.-245T>G)
c.3569T>G (p.Ile1190Ser)
n.402T>G
c.3614T>G (p.Ile1205Ser)
c.3611T>G (p.Ile1204Ser)
c.3602T>G (p.Ile1201Ser)
c.3596T>G (p.Ile1199Ser)
c.3587T>G (p.Ile1196Ser)
c.3584T>G (p.Ile1195Ser)
c.3554T>G (p.Ile1185Ser)
c.3524T>G (p.Ile1175Ser)
c.2819T>G (p.Ile940Ser)
c.2774T>G (p.Ile925Ser)
c.2747T>G (p.Ile916Ser)
c.2654T>G (p.Ile885Ser)
c.3527T>G (p.Ile1176Ser)
c.3566T>G (p.Ile1189Ser)
c.3482T>G (p.Ile1161Ser)
c.3512T>G (p.Ile1171Ser)
c.3590T>G (p.Ile1197Ser)
c.3581T>G (p.Ile1194Ser)
c.3542T>G (p.Ile1181Ser)
c.3641T>G (p.Ile1214Ser)
c.3638T>G (p.Ile1213Ser)
c.3629T>G (p.Ile1210Ser)
c.3623T>G (p.Ile1208Ser)
c.3620T>G (p.Ile1207Ser)
c.3578T>G (p.Ile1193Ser)
c.3575T>G (p.Ile1192Ser)
c.2681T>G (p.Ile894Ser)
2g.50091448A>GCA346819213NRXN1c.3593T>C (p.Ile1198Thr)
n.760T>C
c.480T>C (n.480T>C)
c.488T>C (p.Ile163Thr)
c.3713T>C (p.Ile1238Thr)
c.3557T>C (p.Ile1186Thr)
c.-245T>C (n.-245T>C)
c.3569T>C (p.Ile1190Thr)
n.402T>C
c.3614T>C (p.Ile1205Thr)
c.3611T>C (p.Ile1204Thr)
c.3602T>C (p.Ile1201Thr)
c.3596T>C (p.Ile1199Thr)
c.3587T>C (p.Ile1196Thr)
c.3584T>C (p.Ile1195Thr)
c.3554T>C (p.Ile1185Thr)
c.3524T>C (p.Ile1175Thr)
c.2819T>C (p.Ile940Thr)
c.2774T>C (p.Ile925Thr)
c.2747T>C (p.Ile916Thr)
c.2654T>C (p.Ile885Thr)
c.3527T>C (p.Ile1176Thr)
c.3566T>C (p.Ile1189Thr)
c.3482T>C (p.Ile1161Thr)
c.3512T>C (p.Ile1171Thr)
c.3590T>C (p.Ile1197Thr)
c.3581T>C (p.Ile1194Thr)
c.3542T>C (p.Ile1181Thr)
c.3641T>C (p.Ile1214Thr)
c.3638T>C (p.Ile1213Thr)
c.3629T>C (p.Ile1210Thr)
c.3623T>C (p.Ile1208Thr)
c.3620T>C (p.Ile1207Thr)
c.3578T>C (p.Ile1193Thr)
c.3575T>C (p.Ile1192Thr)
c.2681T>C (p.Ile894Thr)
2g.50091448A>TCA346819211NRXN1c.3593T>A (p.Ile1198Asn)
n.760T>A
c.480T>A (n.480T>A)
c.488T>A (p.Ile163Asn)
c.3713T>A (p.Ile1238Asn)
c.3557T>A (p.Ile1186Asn)
c.-245T>A (n.-245T>A)
c.3569T>A (p.Ile1190Asn)
n.402T>A
c.3614T>A (p.Ile1205Asn)
c.3611T>A (p.Ile1204Asn)
c.3602T>A (p.Ile1201Asn)
c.3596T>A (p.Ile1199Asn)
c.3587T>A (p.Ile1196Asn)
c.3584T>A (p.Ile1195Asn)
c.3554T>A (p.Ile1185Asn)
c.3524T>A (p.Ile1175Asn)
c.2819T>A (p.Ile940Asn)
c.2774T>A (p.Ile925Asn)
c.2747T>A (p.Ile916Asn)
c.2654T>A (p.Ile885Asn)
c.3527T>A (p.Ile1176Asn)
c.3566T>A (p.Ile1189Asn)
c.3482T>A (p.Ile1161Asn)
c.3512T>A (p.Ile1171Asn)
c.3590T>A (p.Ile1197Asn)
c.3581T>A (p.Ile1194Asn)
c.3542T>A (p.Ile1181Asn)
c.3641T>A (p.Ile1214Asn)
c.3638T>A (p.Ile1213Asn)
c.3629T>A (p.Ile1210Asn)
c.3623T>A (p.Ile1208Asn)
c.3620T>A (p.Ile1207Asn)
c.3578T>A (p.Ile1193Asn)
c.3575T>A (p.Ile1192Asn)
c.2681T>A (p.Ile894Asn)
2g.50091449T>ACA346819214NRXN1c.3592A>T (p.Ile1198Phe)
n.759A>T
c.479A>T (n.479A>T)
c.487A>T (p.Ile163Phe)
c.3712A>T (p.Ile1238Phe)
c.3556A>T (p.Ile1186Phe)
c.-246A>T (n.-246A>T)
c.3568A>T (p.Ile1190Phe)
n.401A>T
c.3613A>T (p.Ile1205Phe)
c.3610A>T (p.Ile1204Phe)
c.3601A>T (p.Ile1201Phe)
c.3595A>T (p.Ile1199Phe)
c.3586A>T (p.Ile1196Phe)
c.3583A>T (p.Ile1195Phe)
c.3553A>T (p.Ile1185Phe)
c.3523A>T (p.Ile1175Phe)
c.2818A>T (p.Ile940Phe)
c.2773A>T (p.Ile925Phe)
c.2746A>T (p.Ile916Phe)
c.2653A>T (p.Ile885Phe)
c.3526A>T (p.Ile1176Phe)
c.3565A>T (p.Ile1189Phe)
c.3481A>T (p.Ile1161Phe)
c.3511A>T (p.Ile1171Phe)
c.3589A>T (p.Ile1197Phe)
c.3580A>T (p.Ile1194Phe)
c.3541A>T (p.Ile1181Phe)
c.3640A>T (p.Ile1214Phe)
c.3637A>T (p.Ile1213Phe)
c.3628A>T (p.Ile1210Phe)
c.3622A>T (p.Ile1208Phe)
c.3619A>T (p.Ile1207Phe)
c.3577A>T (p.Ile1193Phe)
c.3574A>T (p.Ile1192Phe)
c.2680A>T (p.Ile894Phe)
2g.50091449T>CCA346819215NRXN1c.3592A>G (p.Ile1198Val)
n.759A>G
c.479A>G (n.479A>G)
c.487A>G (p.Ile163Val)
c.3712A>G (p.Ile1238Val)
c.3556A>G (p.Ile1186Val)
c.-246A>G (n.-246A>G)
c.3568A>G (p.Ile1190Val)
n.401A>G
c.3613A>G (p.Ile1205Val)
c.3610A>G (p.Ile1204Val)
c.3601A>G (p.Ile1201Val)
c.3595A>G (p.Ile1199Val)
c.3586A>G (p.Ile1196Val)
c.3583A>G (p.Ile1195Val)
c.3553A>G (p.Ile1185Val)
c.3523A>G (p.Ile1175Val)
c.2818A>G (p.Ile940Val)
c.2773A>G (p.Ile925Val)
c.2746A>G (p.Ile916Val)
c.2653A>G (p.Ile885Val)
c.3526A>G (p.Ile1176Val)
c.3565A>G (p.Ile1189Val)
c.3481A>G (p.Ile1161Val)
c.3511A>G (p.Ile1171Val)
c.3589A>G (p.Ile1197Val)
c.3580A>G (p.Ile1194Val)
c.3541A>G (p.Ile1181Val)
c.3640A>G (p.Ile1214Val)
c.3637A>G (p.Ile1213Val)
c.3628A>G (p.Ile1210Val)
c.3622A>G (p.Ile1208Val)
c.3619A>G (p.Ile1207Val)
c.3577A>G (p.Ile1193Val)
c.3574A>G (p.Ile1192Val)
c.2680A>G (p.Ile894Val)
2g.50091449T>GCA346819216NRXN1c.3592A>C (p.Ile1198Leu)
n.759A>C
c.479A>C (n.479A>C)
c.487A>C (p.Ile163Leu)
c.3712A>C (p.Ile1238Leu)
c.3556A>C (p.Ile1186Leu)
c.-246A>C (n.-246A>C)
c.3568A>C (p.Ile1190Leu)
n.401A>C
c.3613A>C (p.Ile1205Leu)
c.3610A>C (p.Ile1204Leu)
c.3601A>C (p.Ile1201Leu)
c.3595A>C (p.Ile1199Leu)
c.3586A>C (p.Ile1196Leu)
c.3583A>C (p.Ile1195Leu)
c.3553A>C (p.Ile1185Leu)
c.3523A>C (p.Ile1175Leu)
c.2818A>C (p.Ile940Leu)
c.2773A>C (p.Ile925Leu)
c.2746A>C (p.Ile916Leu)
c.2653A>C (p.Ile885Leu)
c.3526A>C (p.Ile1176Leu)
c.3565A>C (p.Ile1189Leu)
c.3481A>C (p.Ile1161Leu)
c.3511A>C (p.Ile1171Leu)
c.3589A>C (p.Ile1197Leu)
c.3580A>C (p.Ile1194Leu)
c.3541A>C (p.Ile1181Leu)
c.3640A>C (p.Ile1214Leu)
c.3637A>C (p.Ile1213Leu)
c.3628A>C (p.Ile1210Leu)
c.3622A>C (p.Ile1208Leu)
c.3619A>C (p.Ile1207Leu)
c.3577A>C (p.Ile1193Leu)
c.3574A>C (p.Ile1192Leu)
c.2680A>C (p.Ile894Leu)
2g.50091450G>ACA426101655NRXN1c.3591C>T (p.Asp1197=)
n.758C>T
c.478C>T (n.478C>T)
c.486C>T (p.Asp162=)
c.3711C>T (p.Asp1237=)
c.3555C>T (p.Asp1185=)
c.-247C>T (n.-247C>T)
c.3567C>T (p.Asp1189=)
n.400C>T
c.3612C>T (p.Asp1204=)
c.3609C>T (p.Asp1203=)
c.3600C>T (p.Asp1200=)
c.3594C>T (p.Asp1198=)
c.3585C>T (p.Asp1195=)
c.3582C>T (p.Asp1194=)
c.3552C>T (p.Asp1184=)
c.3522C>T (p.Asp1174=)
c.2817C>T (p.Asp939=)
c.2772C>T (p.Asp924=)
c.2745C>T (p.Asp915=)
c.2652C>T (p.Asp884=)
c.3525C>T (p.Asp1175=)
c.3564C>T (p.Asp1188=)
c.3480C>T (p.Asp1160=)
c.3510C>T (p.Asp1170=)
c.3588C>T (p.Asp1196=)
c.3579C>T (p.Asp1193=)
c.3540C>T (p.Asp1180=)
c.3639C>T (p.Asp1213=)
c.3636C>T (p.Asp1212=)
c.3627C>T (p.Asp1209=)
c.3621C>T (p.Asp1207=)
c.3618C>T (p.Asp1206=)
c.3576C>T (p.Asp1192=)
c.3573C>T (p.Asp1191=)
c.2679C>T (p.Asp893=)
2g.50091450G>CCA346819217NRXN1c.3591C>G (p.Asp1197Glu)
n.758C>G
c.478C>G (n.478C>G)
c.486C>G (p.Asp162Glu)
c.3711C>G (p.Asp1237Glu)
c.3555C>G (p.Asp1185Glu)
c.-247C>G (n.-247C>G)
c.3567C>G (p.Asp1189Glu)
n.400C>G
c.3612C>G (p.Asp1204Glu)
c.3609C>G (p.Asp1203Glu)
c.3600C>G (p.Asp1200Glu)
c.3594C>G (p.Asp1198Glu)
c.3585C>G (p.Asp1195Glu)
c.3582C>G (p.Asp1194Glu)
c.3552C>G (p.Asp1184Glu)
c.3522C>G (p.Asp1174Glu)
c.2817C>G (p.Asp939Glu)
c.2772C>G (p.Asp924Glu)
c.2745C>G (p.Asp915Glu)
c.2652C>G (p.Asp884Glu)
c.3525C>G (p.Asp1175Glu)
c.3564C>G (p.Asp1188Glu)
c.3480C>G (p.Asp1160Glu)
c.3510C>G (p.Asp1170Glu)
c.3588C>G (p.Asp1196Glu)
c.3579C>G (p.Asp1193Glu)
c.3540C>G (p.Asp1180Glu)
c.3639C>G (p.Asp1213Glu)
c.3636C>G (p.Asp1212Glu)
c.3627C>G (p.Asp1209Glu)
c.3621C>G (p.Asp1207Glu)
c.3618C>G (p.Asp1206Glu)
c.3576C>G (p.Asp1192Glu)
c.3573C>G (p.Asp1191Glu)
c.2679C>G (p.Asp893Glu)
dbSNP gnomAD v2
2g.50091450G=CA1249373455NRXN1c.3591C= (p.Asp1197=)
n.758C=
c.478C= (n.478C=)
c.486C= (p.Asp162=)
c.3711C= (p.Asp1237=)
c.3555C= (p.Asp1185=)
c.-247C= (n.-247C=)
c.3567C= (p.Asp1189=)
n.400C=
c.3612C= (p.Asp1204=)
c.3609C= (p.Asp1203=)
c.3600C= (p.Asp1200=)
c.3594C= (p.Asp1198=)
c.3585C= (p.Asp1195=)
c.3582C= (p.Asp1194=)
c.3552C= (p.Asp1184=)
c.3522C= (p.Asp1174=)
c.2817C= (p.Asp939=)
c.2772C= (p.Asp924=)
c.2745C= (p.Asp915=)
c.2652C= (p.Asp884=)
c.3525C= (p.Asp1175=)
c.3564C= (p.Asp1188=)
c.3480C= (p.Asp1160=)
c.3510C= (p.Asp1170=)
c.3588C= (p.Asp1196=)
c.3579C= (p.Asp1193=)
c.3540C= (p.Asp1180=)
c.3639C= (p.Asp1213=)
c.3636C= (p.Asp1212=)
c.3627C= (p.Asp1209=)
c.3621C= (p.Asp1207=)
c.3618C= (p.Asp1206=)
c.3576C= (p.Asp1192=)
c.3573C= (p.Asp1191=)
c.2679C= (p.Asp893=)
2g.50091450G>TCA346819218NRXN1c.3591C>A (p.Asp1197Glu)
n.758C>A
c.478C>A (n.478C>A)
c.486C>A (p.Asp162Glu)
c.3711C>A (p.Asp1237Glu)
c.3555C>A (p.Asp1185Glu)
c.-247C>A (n.-247C>A)
c.3567C>A (p.Asp1189Glu)
n.400C>A
c.3612C>A (p.Asp1204Glu)
c.3609C>A (p.Asp1203Glu)
c.3600C>A (p.Asp1200Glu)
c.3594C>A (p.Asp1198Glu)
c.3585C>A (p.Asp1195Glu)
c.3582C>A (p.Asp1194Glu)
c.3552C>A (p.Asp1184Glu)
c.3522C>A (p.Asp1174Glu)
c.2817C>A (p.Asp939Glu)
c.2772C>A (p.Asp924Glu)
c.2745C>A (p.Asp915Glu)
c.2652C>A (p.Asp884Glu)
c.3525C>A (p.Asp1175Glu)
c.3564C>A (p.Asp1188Glu)
c.3480C>A (p.Asp1160Glu)
c.3510C>A (p.Asp1170Glu)
c.3588C>A (p.Asp1196Glu)
c.3579C>A (p.Asp1193Glu)
c.3540C>A (p.Asp1180Glu)
c.3639C>A (p.Asp1213Glu)
c.3636C>A (p.Asp1212Glu)
c.3627C>A (p.Asp1209Glu)
c.3621C>A (p.Asp1207Glu)
c.3618C>A (p.Asp1206Glu)
c.3576C>A (p.Asp1192Glu)
c.3573C>A (p.Asp1191Glu)
c.2679C>A (p.Asp893Glu)
2g.50091451T>ACA346819221NRXN1c.3590A>T (p.Asp1197Val)
n.757A>T
c.477A>T (n.477A>T)
c.485A>T (p.Asp162Val)
c.3710A>T (p.Asp1237Val)
c.3554A>T (p.Asp1185Val)
c.-248A>T (n.-248A>T)
c.3566A>T (p.Asp1189Val)
n.399A>T
c.3611A>T (p.Asp1204Val)
c.3608A>T (p.Asp1203Val)
c.3599A>T (p.Asp1200Val)
c.3593A>T (p.Asp1198Val)
c.3584A>T (p.Asp1195Val)
c.3581A>T (p.Asp1194Val)
c.3551A>T (p.Asp1184Val)
c.3521A>T (p.Asp1174Val)
c.2816A>T (p.Asp939Val)
c.2771A>T (p.Asp924Val)
c.2744A>T (p.Asp915Val)
c.2651A>T (p.Asp884Val)
c.3524A>T (p.Asp1175Val)
c.3563A>T (p.Asp1188Val)
c.3479A>T (p.Asp1160Val)
c.3509A>T (p.Asp1170Val)
c.3587A>T (p.Asp1196Val)
c.3578A>T (p.Asp1193Val)
c.3539A>T (p.Asp1180Val)
c.3638A>T (p.Asp1213Val)
c.3635A>T (p.Asp1212Val)
c.3626A>T (p.Asp1209Val)
c.3620A>T (p.Asp1207Val)
c.3617A>T (p.Asp1206Val)
c.3575A>T (p.Asp1192Val)
c.3572A>T (p.Asp1191Val)
c.2678A>T (p.Asp893Val)
2g.50091451T>CCA346819219NRXN1c.3590A>G (p.Asp1197Gly)
n.757A>G
c.477A>G (n.477A>G)
c.485A>G (p.Asp162Gly)
c.3710A>G (p.Asp1237Gly)
c.3554A>G (p.Asp1185Gly)
c.-248A>G (n.-248A>G)
c.3566A>G (p.Asp1189Gly)
n.399A>G
c.3611A>G (p.Asp1204Gly)
c.3608A>G (p.Asp1203Gly)
c.3599A>G (p.Asp1200Gly)
c.3593A>G (p.Asp1198Gly)
c.3584A>G (p.Asp1195Gly)
c.3581A>G (p.Asp1194Gly)
c.3551A>G (p.Asp1184Gly)
c.3521A>G (p.Asp1174Gly)
c.2816A>G (p.Asp939Gly)
c.2771A>G (p.Asp924Gly)
c.2744A>G (p.Asp915Gly)
c.2651A>G (p.Asp884Gly)
c.3524A>G (p.Asp1175Gly)
c.3563A>G (p.Asp1188Gly)
c.3479A>G (p.Asp1160Gly)
c.3509A>G (p.Asp1170Gly)
c.3587A>G (p.Asp1196Gly)
c.3578A>G (p.Asp1193Gly)
c.3539A>G (p.Asp1180Gly)
c.3638A>G (p.Asp1213Gly)
c.3635A>G (p.Asp1212Gly)
c.3626A>G (p.Asp1209Gly)
c.3620A>G (p.Asp1207Gly)
c.3617A>G (p.Asp1206Gly)
c.3575A>G (p.Asp1192Gly)
c.3572A>G (p.Asp1191Gly)
c.2678A>G (p.Asp893Gly)
2g.50091451T>GCA346819220NRXN1c.3590A>C (p.Asp1197Ala)
n.757A>C
c.477A>C (n.477A>C)
c.485A>C (p.Asp162Ala)
c.3710A>C (p.Asp1237Ala)
c.3554A>C (p.Asp1185Ala)
c.-248A>C (n.-248A>C)
c.3566A>C (p.Asp1189Ala)
n.399A>C
c.3611A>C (p.Asp1204Ala)
c.3608A>C (p.Asp1203Ala)
c.3599A>C (p.Asp1200Ala)
c.3593A>C (p.Asp1198Ala)
c.3584A>C (p.Asp1195Ala)
c.3581A>C (p.Asp1194Ala)
c.3551A>C (p.Asp1184Ala)
c.3521A>C (p.Asp1174Ala)
c.2816A>C (p.Asp939Ala)
c.2771A>C (p.Asp924Ala)
c.2744A>C (p.Asp915Ala)
c.2651A>C (p.Asp884Ala)
c.3524A>C (p.Asp1175Ala)
c.3563A>C (p.Asp1188Ala)
c.3479A>C (p.Asp1160Ala)
c.3509A>C (p.Asp1170Ala)
c.3587A>C (p.Asp1196Ala)
c.3578A>C (p.Asp1193Ala)
c.3539A>C (p.Asp1180Ala)
c.3638A>C (p.Asp1213Ala)
c.3635A>C (p.Asp1212Ala)
c.3626A>C (p.Asp1209Ala)
c.3620A>C (p.Asp1207Ala)
c.3617A>C (p.Asp1206Ala)
c.3575A>C (p.Asp1192Ala)
c.3572A>C (p.Asp1191Ala)
c.2678A>C (p.Asp893Ala)
2g.50091452C>ACA346819222NRXN1c.3589G>T (p.Asp1197Tyr)
n.756G>T
c.476G>T (n.476G>T)
c.484G>T (p.Asp162Tyr)
c.3709G>T (p.Asp1237Tyr)
c.3553G>T (p.Asp1185Tyr)
c.-249G>T (n.-249G>T)
c.3565G>T (p.Asp1189Tyr)
n.398G>T
c.3610G>T (p.Asp1204Tyr)
c.3607G>T (p.Asp1203Tyr)
c.3598G>T (p.Asp1200Tyr)
c.3592G>T (p.Asp1198Tyr)
c.3583G>T (p.Asp1195Tyr)
c.3580G>T (p.Asp1194Tyr)
c.3550G>T (p.Asp1184Tyr)
c.3520G>T (p.Asp1174Tyr)
c.2815G>T (p.Asp939Tyr)
c.2770G>T (p.Asp924Tyr)
c.2743G>T (p.Asp915Tyr)
c.2650G>T (p.Asp884Tyr)
c.3523G>T (p.Asp1175Tyr)
c.3562G>T (p.Asp1188Tyr)
c.3478G>T (p.Asp1160Tyr)
c.3508G>T (p.Asp1170Tyr)
c.3586G>T (p.Asp1196Tyr)
c.3577G>T (p.Asp1193Tyr)
c.3538G>T (p.Asp1180Tyr)
c.3637G>T (p.Asp1213Tyr)
c.3634G>T (p.Asp1212Tyr)
c.3625G>T (p.Asp1209Tyr)
c.3619G>T (p.Asp1207Tyr)
c.3616G>T (p.Asp1206Tyr)
c.3574G>T (p.Asp1192Tyr)
c.3571G>T (p.Asp1191Tyr)
c.2677G>T (p.Asp893Tyr)
2g.50091452C>GCA346819223NRXN1c.3589G>C (p.Asp1197His)
n.756G>C
c.476G>C (n.476G>C)
c.484G>C (p.Asp162His)
c.3709G>C (p.Asp1237His)
c.3553G>C (p.Asp1185His)
c.-249G>C (n.-249G>C)
c.3565G>C (p.Asp1189His)
n.398G>C
c.3610G>C (p.Asp1204His)
c.3607G>C (p.Asp1203His)
c.3598G>C (p.Asp1200His)
c.3592G>C (p.Asp1198His)
c.3583G>C (p.Asp1195His)
c.3580G>C (p.Asp1194His)
c.3550G>C (p.Asp1184His)
c.3520G>C (p.Asp1174His)
c.2815G>C (p.Asp939His)
c.2770G>C (p.Asp924His)
c.2743G>C (p.Asp915His)
c.2650G>C (p.Asp884His)
c.3523G>C (p.Asp1175His)
c.3562G>C (p.Asp1188His)
c.3478G>C (p.Asp1160His)
c.3508G>C (p.Asp1170His)
c.3586G>C (p.Asp1196His)
c.3577G>C (p.Asp1193His)
c.3538G>C (p.Asp1180His)
c.3637G>C (p.Asp1213His)
c.3634G>C (p.Asp1212His)
c.3625G>C (p.Asp1209His)
c.3619G>C (p.Asp1207His)
c.3616G>C (p.Asp1206His)
c.3574G>C (p.Asp1192His)
c.3571G>C (p.Asp1191His)
c.2677G>C (p.Asp893His)
2g.50091452C>TCA346819224NRXN1c.3589G>A (p.Asp1197Asn)
n.756G>A
c.476G>A (n.476G>A)
c.484G>A (p.Asp162Asn)
c.3709G>A (p.Asp1237Asn)
c.3553G>A (p.Asp1185Asn)
c.-249G>A (n.-249G>A)
c.3565G>A (p.Asp1189Asn)
n.398G>A
c.3610G>A (p.Asp1204Asn)
c.3607G>A (p.Asp1203Asn)
c.3598G>A (p.Asp1200Asn)
c.3592G>A (p.Asp1198Asn)
c.3583G>A (p.Asp1195Asn)
c.3580G>A (p.Asp1194Asn)
c.3550G>A (p.Asp1184Asn)
c.3520G>A (p.Asp1174Asn)
c.2815G>A (p.Asp939Asn)
c.2770G>A (p.Asp924Asn)
c.2743G>A (p.Asp915Asn)
c.2650G>A (p.Asp884Asn)
c.3523G>A (p.Asp1175Asn)
c.3562G>A (p.Asp1188Asn)
c.3478G>A (p.Asp1160Asn)
c.3508G>A (p.Asp1170Asn)
c.3586G>A (p.Asp1196Asn)
c.3577G>A (p.Asp1193Asn)
c.3538G>A (p.Asp1180Asn)
c.3637G>A (p.Asp1213Asn)
c.3634G>A (p.Asp1212Asn)
c.3625G>A (p.Asp1209Asn)
c.3619G>A (p.Asp1207Asn)
c.3616G>A (p.Asp1206Asn)
c.3574G>A (p.Asp1192Asn)
c.3571G>A (p.Asp1191Asn)
c.2677G>A (p.Asp893Asn)
2g.50091453A>CCA346819225NRXN1c.3588T>G (p.Asp1196Glu)
n.755T>G
c.475T>G (n.475T>G)
c.483T>G (p.Asp161Glu)
c.3708T>G (p.Asp1236Glu)
c.3552T>G (p.Asp1184Glu)
c.-250T>G (n.-250T>G)
c.3564T>G (p.Asp1188Glu)
n.397T>G
c.3609T>G (p.Asp1203Glu)
c.3606T>G (p.Asp1202Glu)
c.3597T>G (p.Asp1199Glu)
c.3591T>G (p.Asp1197Glu)
c.3582T>G (p.Asp1194Glu)
c.3579T>G (p.Asp1193Glu)
c.3549T>G (p.Asp1183Glu)
c.3519T>G (p.Asp1173Glu)
c.2814T>G (p.Asp938Glu)
c.2769T>G (p.Asp923Glu)
c.2742T>G (p.Asp914Glu)
c.2649T>G (p.Asp883Glu)
c.3522T>G (p.Asp1174Glu)
c.3561T>G (p.Asp1187Glu)
c.3477T>G (p.Asp1159Glu)
c.3507T>G (p.Asp1169Glu)
c.3585T>G (p.Asp1195Glu)
c.3576T>G (p.Asp1192Glu)
c.3537T>G (p.Asp1179Glu)
c.3636T>G (p.Asp1212Glu)
c.3633T>G (p.Asp1211Glu)
c.3624T>G (p.Asp1208Glu)
c.3618T>G (p.Asp1206Glu)
c.3615T>G (p.Asp1205Glu)
c.3573T>G (p.Asp1191Glu)
c.3570T>G (p.Asp1190Glu)
c.2676T>G (p.Asp892Glu)
2g.50091453A>GCA426101658NRXN1c.3588T>C (p.Asp1196=)
n.755T>C
c.475T>C (n.475T>C)
c.483T>C (p.Asp161=)
c.3708T>C (p.Asp1236=)
c.3552T>C (p.Asp1184=)
c.-250T>C (n.-250T>C)
c.3564T>C (p.Asp1188=)
n.397T>C
c.3609T>C (p.Asp1203=)
c.3606T>C (p.Asp1202=)
c.3597T>C (p.Asp1199=)
c.3591T>C (p.Asp1197=)
c.3582T>C (p.Asp1194=)
c.3579T>C (p.Asp1193=)
c.3549T>C (p.Asp1183=)
c.3519T>C (p.Asp1173=)
c.2814T>C (p.Asp938=)
c.2769T>C (p.Asp923=)
c.2742T>C (p.Asp914=)
c.2649T>C (p.Asp883=)
c.3522T>C (p.Asp1174=)
c.3561T>C (p.Asp1187=)
c.3477T>C (p.Asp1159=)
c.3507T>C (p.Asp1169=)
c.3585T>C (p.Asp1195=)
c.3576T>C (p.Asp1192=)
c.3537T>C (p.Asp1179=)
c.3636T>C (p.Asp1212=)
c.3633T>C (p.Asp1211=)
c.3624T>C (p.Asp1208=)
c.3618T>C (p.Asp1206=)
c.3615T>C (p.Asp1205=)
c.3573T>C (p.Asp1191=)
c.3570T>C (p.Asp1190=)
c.2676T>C (p.Asp892=)
gnomAD v4
2g.50091453A>TCA346819226NRXN1c.3588T>A (p.Asp1196Glu)
n.755T>A
c.475T>A (n.475T>A)
c.483T>A (p.Asp161Glu)
c.3708T>A (p.Asp1236Glu)
c.3552T>A (p.Asp1184Glu)
c.-250T>A (n.-250T>A)
c.3564T>A (p.Asp1188Glu)
n.397T>A
c.3609T>A (p.Asp1203Glu)
c.3606T>A (p.Asp1202Glu)
c.3597T>A (p.Asp1199Glu)
c.3591T>A (p.Asp1197Glu)
c.3582T>A (p.Asp1194Glu)
c.3579T>A (p.Asp1193Glu)
c.3549T>A (p.Asp1183Glu)
c.3519T>A (p.Asp1173Glu)
c.2814T>A (p.Asp938Glu)
c.2769T>A (p.Asp923Glu)
c.2742T>A (p.Asp914Glu)
c.2649T>A (p.Asp883Glu)
c.3522T>A (p.Asp1174Glu)
c.3561T>A (p.Asp1187Glu)
c.3477T>A (p.Asp1159Glu)
c.3507T>A (p.Asp1169Glu)
c.3585T>A (p.Asp1195Glu)
c.3576T>A (p.Asp1192Glu)
c.3537T>A (p.Asp1179Glu)
c.3636T>A (p.Asp1212Glu)
c.3633T>A (p.Asp1211Glu)
c.3624T>A (p.Asp1208Glu)
c.3618T>A (p.Asp1206Glu)
c.3615T>A (p.Asp1205Glu)
c.3573T>A (p.Asp1191Glu)
c.3570T>A (p.Asp1190Glu)
c.2676T>A (p.Asp892Glu)
2g.50091454T>ACA346819227NRXN1c.3587A>T (p.Asp1196Val)
n.754A>T
c.474A>T (n.474A>T)
c.482A>T (p.Asp161Val)
c.3707A>T (p.Asp1236Val)
c.3551A>T (p.Asp1184Val)
c.-251A>T (n.-251A>T)
c.3563A>T (p.Asp1188Val)
n.396A>T
c.3608A>T (p.Asp1203Val)
c.3605A>T (p.Asp1202Val)
c.3596A>T (p.Asp1199Val)
c.3590A>T (p.Asp1197Val)
c.3581A>T (p.Asp1194Val)
c.3578A>T (p.Asp1193Val)
c.3548A>T (p.Asp1183Val)
c.3518A>T (p.Asp1173Val)
c.2813A>T (p.Asp938Val)
c.2768A>T (p.Asp923Val)
c.2741A>T (p.Asp914Val)
c.2648A>T (p.Asp883Val)
c.3521A>T (p.Asp1174Val)
c.3560A>T (p.Asp1187Val)
c.3476A>T (p.Asp1159Val)
c.3506A>T (p.Asp1169Val)
c.3584A>T (p.Asp1195Val)
c.3575A>T (p.Asp1192Val)
c.3536A>T (p.Asp1179Val)
c.3635A>T (p.Asp1212Val)
c.3632A>T (p.Asp1211Val)
c.3623A>T (p.Asp1208Val)
c.3617A>T (p.Asp1206Val)
c.3614A>T (p.Asp1205Val)
c.3572A>T (p.Asp1191Val)
c.3569A>T (p.Asp1190Val)
c.2675A>T (p.Asp892Val)
2g.50091454T>CCA346819229NRXN1c.3587A>G (p.Asp1196Gly)
n.754A>G
c.474A>G (n.474A>G)
c.482A>G (p.Asp161Gly)
c.3707A>G (p.Asp1236Gly)
c.3551A>G (p.Asp1184Gly)
c.-251A>G (n.-251A>G)
c.3563A>G (p.Asp1188Gly)
n.396A>G
c.3608A>G (p.Asp1203Gly)
c.3605A>G (p.Asp1202Gly)
c.3596A>G (p.Asp1199Gly)
c.3590A>G (p.Asp1197Gly)
c.3581A>G (p.Asp1194Gly)
c.3578A>G (p.Asp1193Gly)
c.3548A>G (p.Asp1183Gly)
c.3518A>G (p.Asp1173Gly)
c.2813A>G (p.Asp938Gly)
c.2768A>G (p.Asp923Gly)
c.2741A>G (p.Asp914Gly)
c.2648A>G (p.Asp883Gly)
c.3521A>G (p.Asp1174Gly)
c.3560A>G (p.Asp1187Gly)
c.3476A>G (p.Asp1159Gly)
c.3506A>G (p.Asp1169Gly)
c.3584A>G (p.Asp1195Gly)
c.3575A>G (p.Asp1192Gly)
c.3536A>G (p.Asp1179Gly)
c.3635A>G (p.Asp1212Gly)
c.3632A>G (p.Asp1211Gly)
c.3623A>G (p.Asp1208Gly)
c.3617A>G (p.Asp1206Gly)
c.3614A>G (p.Asp1205Gly)
c.3572A>G (p.Asp1191Gly)
c.3569A>G (p.Asp1190Gly)
c.2675A>G (p.Asp892Gly)
2g.50091454T>GCA346819228NRXN1c.3587A>C (p.Asp1196Ala)
n.754A>C
c.474A>C (n.474A>C)
c.482A>C (p.Asp161Ala)
c.3707A>C (p.Asp1236Ala)
c.3551A>C (p.Asp1184Ala)
c.-251A>C (n.-251A>C)
c.3563A>C (p.Asp1188Ala)
n.396A>C
c.3608A>C (p.Asp1203Ala)
c.3605A>C (p.Asp1202Ala)
c.3596A>C (p.Asp1199Ala)
c.3590A>C (p.Asp1197Ala)
c.3581A>C (p.Asp1194Ala)
c.3578A>C (p.Asp1193Ala)
c.3548A>C (p.Asp1183Ala)
c.3518A>C (p.Asp1173Ala)
c.2813A>C (p.Asp938Ala)
c.2768A>C (p.Asp923Ala)
c.2741A>C (p.Asp914Ala)
c.2648A>C (p.Asp883Ala)
c.3521A>C (p.Asp1174Ala)
c.3560A>C (p.Asp1187Ala)
c.3476A>C (p.Asp1159Ala)
c.3506A>C (p.Asp1169Ala)
c.3584A>C (p.Asp1195Ala)
c.3575A>C (p.Asp1192Ala)
c.3536A>C (p.Asp1179Ala)
c.3635A>C (p.Asp1212Ala)
c.3632A>C (p.Asp1211Ala)
c.3623A>C (p.Asp1208Ala)
c.3617A>C (p.Asp1206Ala)
c.3614A>C (p.Asp1205Ala)
c.3572A>C (p.Asp1191Ala)
c.3569A>C (p.Asp1190Ala)
c.2675A>C (p.Asp892Ala)
2g.50091455C>ACA346819230NRXN1c.3586G>T (p.Asp1196Tyr)
n.753G>T
c.473G>T (n.473G>T)
c.481G>T (p.Asp161Tyr)
c.3706G>T (p.Asp1236Tyr)
c.3550G>T (p.Asp1184Tyr)
c.-252G>T (n.-252G>T)
c.3562G>T (p.Asp1188Tyr)
n.395G>T
c.3607G>T (p.Asp1203Tyr)
c.3604G>T (p.Asp1202Tyr)
c.3595G>T (p.Asp1199Tyr)
c.3589G>T (p.Asp1197Tyr)
c.3580G>T (p.Asp1194Tyr)
c.3577G>T (p.Asp1193Tyr)
c.3547G>T (p.Asp1183Tyr)
c.3517G>T (p.Asp1173Tyr)
c.2812G>T (p.Asp938Tyr)
c.2767G>T (p.Asp923Tyr)
c.2740G>T (p.Asp914Tyr)
c.2647G>T (p.Asp883Tyr)
c.3520G>T (p.Asp1174Tyr)
c.3559G>T (p.Asp1187Tyr)
c.3475G>T (p.Asp1159Tyr)
c.3505G>T (p.Asp1169Tyr)
c.3583G>T (p.Asp1195Tyr)
c.3574G>T (p.Asp1192Tyr)
c.3535G>T (p.Asp1179Tyr)
c.3634G>T (p.Asp1212Tyr)
c.3631G>T (p.Asp1211Tyr)
c.3622G>T (p.Asp1208Tyr)
c.3616G>T (p.Asp1206Tyr)
c.3613G>T (p.Asp1205Tyr)
c.3571G>T (p.Asp1191Tyr)
c.3568G>T (p.Asp1190Tyr)
c.2674G>T (p.Asp892Tyr)
2g.50091455C=CA1249373456NRXN1c.3586G= (p.Asp1196=)
n.753G=
c.473G= (n.473G=)
c.481G= (p.Asp161=)
c.3706G= (p.Asp1236=)
c.3550G= (p.Asp1184=)
c.-252G= (n.-252G=)
c.3562G= (p.Asp1188=)
n.395G=
c.3607G= (p.Asp1203=)
c.3604G= (p.Asp1202=)
c.3595G= (p.Asp1199=)
c.3589G= (p.Asp1197=)
c.3580G= (p.Asp1194=)
c.3577G= (p.Asp1193=)
c.3547G= (p.Asp1183=)
c.3517G= (p.Asp1173=)
c.2812G= (p.Asp938=)
c.2767G= (p.Asp923=)
c.2740G= (p.Asp914=)
c.2647G= (p.Asp883=)
c.3520G= (p.Asp1174=)
c.3559G= (p.Asp1187=)
c.3475G= (p.Asp1159=)
c.3505G= (p.Asp1169=)
c.3583G= (p.Asp1195=)
c.3574G= (p.Asp1192=)
c.3535G= (p.Asp1179=)
c.3634G= (p.Asp1212=)
c.3631G= (p.Asp1211=)
c.3622G= (p.Asp1208=)
c.3616G= (p.Asp1206=)
c.3613G= (p.Asp1205=)
c.3571G= (p.Asp1191=)
c.3568G= (p.Asp1190=)
c.2674G= (p.Asp892=)
2g.50091455C>GCA346819231NRXN1c.3586G>C (p.Asp1196His)
n.753G>C
c.473G>C (n.473G>C)
c.481G>C (p.Asp161His)
c.3706G>C (p.Asp1236His)
c.3550G>C (p.Asp1184His)
c.-252G>C (n.-252G>C)
c.3562G>C (p.Asp1188His)
n.395G>C
c.3607G>C (p.Asp1203His)
c.3604G>C (p.Asp1202His)
c.3595G>C (p.Asp1199His)
c.3589G>C (p.Asp1197His)
c.3580G>C (p.Asp1194His)
c.3577G>C (p.Asp1193His)
c.3547G>C (p.Asp1183His)
c.3517G>C (p.Asp1173His)
c.2812G>C (p.Asp938His)
c.2767G>C (p.Asp923His)
c.2740G>C (p.Asp914His)
c.2647G>C (p.Asp883His)
c.3520G>C (p.Asp1174His)
c.3559G>C (p.Asp1187His)
c.3475G>C (p.Asp1159His)
c.3505G>C (p.Asp1169His)
c.3583G>C (p.Asp1195His)
c.3574G>C (p.Asp1192His)
c.3535G>C (p.Asp1179His)
c.3634G>C (p.Asp1212His)
c.3631G>C (p.Asp1211His)
c.3622G>C (p.Asp1208His)
c.3616G>C (p.Asp1206His)
c.3613G>C (p.Asp1205His)
c.3571G>C (p.Asp1191His)
c.3568G>C (p.Asp1190His)
c.2674G>C (p.Asp892His)
2g.50091455C>TCA47843168NRXN1c.3586G>A (p.Asp1196Asn)
n.753G>A
c.473G>A (n.473G>A)
c.481G>A (p.Asp161Asn)
c.3706G>A (p.Asp1236Asn)
c.3550G>A (p.Asp1184Asn)
c.-252G>A (n.-252G>A)
c.3562G>A (p.Asp1188Asn)
n.395G>A
c.3607G>A (p.Asp1203Asn)
c.3604G>A (p.Asp1202Asn)
c.3595G>A (p.Asp1199Asn)
c.3589G>A (p.Asp1197Asn)
c.3580G>A (p.Asp1194Asn)
c.3577G>A (p.Asp1193Asn)
c.3547G>A (p.Asp1183Asn)
c.3517G>A (p.Asp1173Asn)
c.2812G>A (p.Asp938Asn)
c.2767G>A (p.Asp923Asn)
c.2740G>A (p.Asp914Asn)
c.2647G>A (p.Asp883Asn)
c.3520G>A (p.Asp1174Asn)
c.3559G>A (p.Asp1187Asn)
c.3475G>A (p.Asp1159Asn)
c.3505G>A (p.Asp1169Asn)
c.3583G>A (p.Asp1195Asn)
c.3574G>A (p.Asp1192Asn)
c.3535G>A (p.Asp1179Asn)
c.3634G>A (p.Asp1212Asn)
c.3631G>A (p.Asp1211Asn)
c.3622G>A (p.Asp1208Asn)
c.3616G>A (p.Asp1206Asn)
c.3613G>A (p.Asp1205Asn)
c.3571G>A (p.Asp1191Asn)
c.3568G>A (p.Asp1190Asn)
c.2674G>A (p.Asp892Asn)
ClinVar dbSNP
2g.50091456T>ACA426101661NRXN1c.3585A>T (p.Thr1195=)
n.752A>T
c.472A>T (n.472A>T)
c.480A>T (p.Thr160=)
c.3705A>T (p.Thr1235=)
c.3549A>T (p.Thr1183=)
c.-253A>T (n.-253A>T)
c.3561A>T (p.Thr1187=)
n.394A>T
c.3606A>T (p.Thr1202=)
c.3603A>T (p.Thr1201=)
c.3594A>T (p.Thr1198=)
c.3588A>T (p.Thr1196=)
c.3579A>T (p.Thr1193=)
c.3576A>T (p.Thr1192=)
c.3546A>T (p.Thr1182=)
c.3516A>T (p.Thr1172=)
c.2811A>T (p.Thr937=)
c.2766A>T (p.Thr922=)
c.2739A>T (p.Thr913=)
c.2646A>T (p.Thr882=)
c.3519A>T (p.Thr1173=)
c.3558A>T (p.Thr1186=)
c.3474A>T (p.Thr1158=)
c.3504A>T (p.Thr1168=)
c.3582A>T (p.Thr1194=)
c.3573A>T (p.Thr1191=)
c.3534A>T (p.Thr1178=)
c.3633A>T (p.Thr1211=)
c.3630A>T (p.Thr1210=)
c.3621A>T (p.Thr1207=)
c.3615A>T (p.Thr1205=)
c.3612A>T (p.Thr1204=)
c.3570A>T (p.Thr1190=)
c.3567A>T (p.Thr1189=)
c.2673A>T (p.Thr891=)
2g.50091456T>CCA426101662NRXN1c.3585A>G (p.Thr1195=)
n.752A>G
c.472A>G (n.472A>G)
c.480A>G (p.Thr160=)
c.3705A>G (p.Thr1235=)
c.3549A>G (p.Thr1183=)
c.-253A>G (n.-253A>G)
c.3561A>G (p.Thr1187=)
n.394A>G
c.3606A>G (p.Thr1202=)
c.3603A>G (p.Thr1201=)
c.3594A>G (p.Thr1198=)
c.3588A>G (p.Thr1196=)
c.3579A>G (p.Thr1193=)
c.3576A>G (p.Thr1192=)
c.3546A>G (p.Thr1182=)
c.3516A>G (p.Thr1172=)
c.2811A>G (p.Thr937=)
c.2766A>G (p.Thr922=)
c.2739A>G (p.Thr913=)
c.2646A>G (p.Thr882=)
c.3519A>G (p.Thr1173=)
c.3558A>G (p.Thr1186=)
c.3474A>G (p.Thr1158=)
c.3504A>G (p.Thr1168=)
c.3582A>G (p.Thr1194=)
c.3573A>G (p.Thr1191=)
c.3534A>G (p.Thr1178=)
c.3633A>G (p.Thr1211=)
c.3630A>G (p.Thr1210=)
c.3621A>G (p.Thr1207=)
c.3615A>G (p.Thr1205=)
c.3612A>G (p.Thr1204=)
c.3570A>G (p.Thr1190=)
c.3567A>G (p.Thr1189=)
c.2673A>G (p.Thr891=)
2g.50091456T>GCA1654413NRXN1c.3585A>C (p.Thr1195=)
n.752A>C
c.472A>C (n.472A>C)
c.480A>C (p.Thr160=)
c.3705A>C (p.Thr1235=)
c.3549A>C (p.Thr1183=)
c.-253A>C (n.-253A>C)
c.3561A>C (p.Thr1187=)
n.394A>C
c.3606A>C (p.Thr1202=)
c.3603A>C (p.Thr1201=)
c.3594A>C (p.Thr1198=)
c.3588A>C (p.Thr1196=)
c.3579A>C (p.Thr1193=)
c.3576A>C (p.Thr1192=)
c.3546A>C (p.Thr1182=)
c.3516A>C (p.Thr1172=)
c.2811A>C (p.Thr937=)
c.2766A>C (p.Thr922=)
c.2739A>C (p.Thr913=)
c.2646A>C (p.Thr882=)
c.3519A>C (p.Thr1173=)
c.3558A>C (p.Thr1186=)
c.3474A>C (p.Thr1158=)
c.3504A>C (p.Thr1168=)
c.3582A>C (p.Thr1194=)
c.3573A>C (p.Thr1191=)
c.3534A>C (p.Thr1178=)
c.3633A>C (p.Thr1211=)
c.3630A>C (p.Thr1210=)
c.3621A>C (p.Thr1207=)
c.3615A>C (p.Thr1205=)
c.3612A>C (p.Thr1204=)
c.3570A>C (p.Thr1190=)
c.3567A>C (p.Thr1189=)
c.2673A>C (p.Thr891=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.50091456T=CA1249373457NRXN1c.3585A= (p.Thr1195=)
n.752A=
c.472A= (n.472A=)
c.480A= (p.Thr160=)
c.3705A= (p.Thr1235=)
c.3549A= (p.Thr1183=)
c.-253A= (n.-253A=)
c.3561A= (p.Thr1187=)
n.394A=
c.3606A= (p.Thr1202=)
c.3603A= (p.Thr1201=)
c.3594A= (p.Thr1198=)
c.3588A= (p.Thr1196=)
c.3579A= (p.Thr1193=)
c.3576A= (p.Thr1192=)
c.3546A= (p.Thr1182=)
c.3516A= (p.Thr1172=)
c.2811A= (p.Thr937=)
c.2766A= (p.Thr922=)
c.2739A= (p.Thr913=)
c.2646A= (p.Thr882=)
c.3519A= (p.Thr1173=)
c.3558A= (p.Thr1186=)
c.3474A= (p.Thr1158=)
c.3504A= (p.Thr1168=)
c.3582A= (p.Thr1194=)
c.3573A= (p.Thr1191=)
c.3534A= (p.Thr1178=)
c.3633A= (p.Thr1211=)
c.3630A= (p.Thr1210=)
c.3621A= (p.Thr1207=)
c.3615A= (p.Thr1205=)
c.3612A= (p.Thr1204=)
c.3570A= (p.Thr1190=)
c.3567A= (p.Thr1189=)
c.2673A= (p.Thr891=)
2g.50091457G>ACA346819232NRXN1c.3584C>T (p.Thr1195Ile)
n.751C>T
c.471C>T (n.471C>T)
c.479C>T (p.Thr160Ile)
c.3704C>T (p.Thr1235Ile)
c.3548C>T (p.Thr1183Ile)
c.-254C>T (n.-254C>T)
c.3560C>T (p.Thr1187Ile)
n.393C>T
c.3605C>T (p.Thr1202Ile)
c.3602C>T (p.Thr1201Ile)
c.3593C>T (p.Thr1198Ile)
c.3587C>T (p.Thr1196Ile)
c.3578C>T (p.Thr1193Ile)
c.3575C>T (p.Thr1192Ile)
c.3545C>T (p.Thr1182Ile)
c.3515C>T (p.Thr1172Ile)
c.2810C>T (p.Thr937Ile)
c.2765C>T (p.Thr922Ile)
c.2738C>T (p.Thr913Ile)
c.2645C>T (p.Thr882Ile)
c.3518C>T (p.Thr1173Ile)
c.3557C>T (p.Thr1186Ile)
c.3473C>T (p.Thr1158Ile)
c.3503C>T (p.Thr1168Ile)
c.3581C>T (p.Thr1194Ile)
c.3572C>T (p.Thr1191Ile)
c.3533C>T (p.Thr1178Ile)
c.3632C>T (p.Thr1211Ile)
c.3629C>T (p.Thr1210Ile)
c.3620C>T (p.Thr1207Ile)
c.3614C>T (p.Thr1205Ile)
c.3611C>T (p.Thr1204Ile)
c.3569C>T (p.Thr1190Ile)
c.3566C>T (p.Thr1189Ile)
c.2672C>T (p.Thr891Ile)
gnomAD v4
2g.50091457G>CCA346819233NRXN1c.3584C>G (p.Thr1195Arg)
n.751C>G
c.471C>G (n.471C>G)
c.479C>G (p.Thr160Arg)
c.3704C>G (p.Thr1235Arg)
c.3548C>G (p.Thr1183Arg)
c.-254C>G (n.-254C>G)
c.3560C>G (p.Thr1187Arg)
n.393C>G
c.3605C>G (p.Thr1202Arg)
c.3602C>G (p.Thr1201Arg)
c.3593C>G (p.Thr1198Arg)
c.3587C>G (p.Thr1196Arg)
c.3578C>G (p.Thr1193Arg)
c.3575C>G (p.Thr1192Arg)
c.3545C>G (p.Thr1182Arg)
c.3515C>G (p.Thr1172Arg)
c.2810C>G (p.Thr937Arg)
c.2765C>G (p.Thr922Arg)
c.2738C>G (p.Thr913Arg)
c.2645C>G (p.Thr882Arg)
c.3518C>G (p.Thr1173Arg)
c.3557C>G (p.Thr1186Arg)
c.3473C>G (p.Thr1158Arg)
c.3503C>G (p.Thr1168Arg)
c.3581C>G (p.Thr1194Arg)
c.3572C>G (p.Thr1191Arg)
c.3533C>G (p.Thr1178Arg)
c.3632C>G (p.Thr1211Arg)
c.3629C>G (p.Thr1210Arg)
c.3620C>G (p.Thr1207Arg)
c.3614C>G (p.Thr1205Arg)
c.3611C>G (p.Thr1204Arg)
c.3569C>G (p.Thr1190Arg)
c.3566C>G (p.Thr1189Arg)
c.2672C>G (p.Thr891Arg)
2g.50091457G>TCA346819234NRXN1c.3584C>A (p.Thr1195Lys)
n.751C>A
c.471C>A (n.471C>A)
c.479C>A (p.Thr160Lys)
c.3704C>A (p.Thr1235Lys)
c.3548C>A (p.Thr1183Lys)
c.-254C>A (n.-254C>A)
c.3560C>A (p.Thr1187Lys)
n.393C>A
c.3605C>A (p.Thr1202Lys)
c.3602C>A (p.Thr1201Lys)
c.3593C>A (p.Thr1198Lys)
c.3587C>A (p.Thr1196Lys)
c.3578C>A (p.Thr1193Lys)
c.3575C>A (p.Thr1192Lys)
c.3545C>A (p.Thr1182Lys)
c.3515C>A (p.Thr1172Lys)
c.2810C>A (p.Thr937Lys)
c.2765C>A (p.Thr922Lys)
c.2738C>A (p.Thr913Lys)
c.2645C>A (p.Thr882Lys)
c.3518C>A (p.Thr1173Lys)
c.3557C>A (p.Thr1186Lys)
c.3473C>A (p.Thr1158Lys)
c.3503C>A (p.Thr1168Lys)
c.3581C>A (p.Thr1194Lys)
c.3572C>A (p.Thr1191Lys)
c.3533C>A (p.Thr1178Lys)
c.3632C>A (p.Thr1211Lys)
c.3629C>A (p.Thr1210Lys)
c.3620C>A (p.Thr1207Lys)
c.3614C>A (p.Thr1205Lys)
c.3611C>A (p.Thr1204Lys)
c.3569C>A (p.Thr1190Lys)
c.3566C>A (p.Thr1189Lys)
c.2672C>A (p.Thr891Lys)
2g.50091458T>ACA346819235NRXN1c.3583A>T (p.Thr1195Ser)
n.750A>T
c.470A>T (n.470A>T)
c.478A>T (p.Thr160Ser)
c.3703A>T (p.Thr1235Ser)
c.3547A>T (p.Thr1183Ser)
c.-255A>T (n.-255A>T)
c.3559A>T (p.Thr1187Ser)
n.392A>T
c.3604A>T (p.Thr1202Ser)
c.3601A>T (p.Thr1201Ser)
c.3592A>T (p.Thr1198Ser)
c.3586A>T (p.Thr1196Ser)
c.3577A>T (p.Thr1193Ser)
c.3574A>T (p.Thr1192Ser)
c.3544A>T (p.Thr1182Ser)
c.3514A>T (p.Thr1172Ser)
c.2809A>T (p.Thr937Ser)
c.2764A>T (p.Thr922Ser)
c.2737A>T (p.Thr913Ser)
c.2644A>T (p.Thr882Ser)
c.3517A>T (p.Thr1173Ser)
c.3556A>T (p.Thr1186Ser)
c.3472A>T (p.Thr1158Ser)
c.3502A>T (p.Thr1168Ser)
c.3580A>T (p.Thr1194Ser)
c.3571A>T (p.Thr1191Ser)
c.3532A>T (p.Thr1178Ser)
c.3631A>T (p.Thr1211Ser)
c.3628A>T (p.Thr1210Ser)
c.3619A>T (p.Thr1207Ser)
c.3613A>T (p.Thr1205Ser)
c.3610A>T (p.Thr1204Ser)
c.3568A>T (p.Thr1190Ser)
c.3565A>T (p.Thr1189Ser)
c.2671A>T (p.Thr891Ser)
2g.50091458T>CCA346819236NRXN1c.3583A>G (p.Thr1195Ala)
n.750A>G
c.470A>G (n.470A>G)
c.478A>G (p.Thr160Ala)
c.3703A>G (p.Thr1235Ala)
c.3547A>G (p.Thr1183Ala)
c.-255A>G (n.-255A>G)
c.3559A>G (p.Thr1187Ala)
n.392A>G
c.3604A>G (p.Thr1202Ala)
c.3601A>G (p.Thr1201Ala)
c.3592A>G (p.Thr1198Ala)
c.3586A>G (p.Thr1196Ala)
c.3577A>G (p.Thr1193Ala)
c.3574A>G (p.Thr1192Ala)
c.3544A>G (p.Thr1182Ala)
c.3514A>G (p.Thr1172Ala)
c.2809A>G (p.Thr937Ala)
c.2764A>G (p.Thr922Ala)
c.2737A>G (p.Thr913Ala)
c.2644A>G (p.Thr882Ala)
c.3517A>G (p.Thr1173Ala)
c.3556A>G (p.Thr1186Ala)
c.3472A>G (p.Thr1158Ala)
c.3502A>G (p.Thr1168Ala)
c.3580A>G (p.Thr1194Ala)
c.3571A>G (p.Thr1191Ala)
c.3532A>G (p.Thr1178Ala)
c.3631A>G (p.Thr1211Ala)
c.3628A>G (p.Thr1210Ala)
c.3619A>G (p.Thr1207Ala)
c.3613A>G (p.Thr1205Ala)
c.3610A>G (p.Thr1204Ala)
c.3568A>G (p.Thr1190Ala)
c.3565A>G (p.Thr1189Ala)
c.2671A>G (p.Thr891Ala)
2g.50091458T>GCA346819237NRXN1c.3583A>C (p.Thr1195Pro)
n.750A>C
c.470A>C (n.470A>C)
c.478A>C (p.Thr160Pro)
c.3703A>C (p.Thr1235Pro)
c.3547A>C (p.Thr1183Pro)
c.-255A>C (n.-255A>C)
c.3559A>C (p.Thr1187Pro)
n.392A>C
c.3604A>C (p.Thr1202Pro)
c.3601A>C (p.Thr1201Pro)
c.3592A>C (p.Thr1198Pro)
c.3586A>C (p.Thr1196Pro)
c.3577A>C (p.Thr1193Pro)
c.3574A>C (p.Thr1192Pro)
c.3544A>C (p.Thr1182Pro)
c.3514A>C (p.Thr1172Pro)
c.2809A>C (p.Thr937Pro)
c.2764A>C (p.Thr922Pro)
c.2737A>C (p.Thr913Pro)
c.2644A>C (p.Thr882Pro)
c.3517A>C (p.Thr1173Pro)
c.3556A>C (p.Thr1186Pro)
c.3472A>C (p.Thr1158Pro)
c.3502A>C (p.Thr1168Pro)
c.3580A>C (p.Thr1194Pro)
c.3571A>C (p.Thr1191Pro)
c.3532A>C (p.Thr1178Pro)
c.3631A>C (p.Thr1211Pro)
c.3628A>C (p.Thr1210Pro)
c.3619A>C (p.Thr1207Pro)
c.3613A>C (p.Thr1205Pro)
c.3610A>C (p.Thr1204Pro)
c.3568A>C (p.Thr1190Pro)
c.3565A>C (p.Thr1189Pro)
c.2671A>C (p.Thr891Pro)
2g.50091459C>ACA426101664NRXN1c.3582G>T (p.Gly1194=)
n.749G>T
c.469G>T (n.469G>T)
c.477G>T (p.Gly159=)
c.3702G>T (p.Gly1234=)
c.3546G>T (p.Gly1182=)
c.-256G>T (n.-256G>T)
c.3558G>T (p.Gly1186=)
n.391G>T
c.3603G>T (p.Gly1201=)
c.3600G>T (p.Gly1200=)
c.3591G>T (p.Gly1197=)
c.3585G>T (p.Gly1195=)
c.3576G>T (p.Gly1192=)
c.3573G>T (p.Gly1191=)
c.3543G>T (p.Gly1181=)
c.3513G>T (p.Gly1171=)
c.2808G>T (p.Gly936=)
c.2763G>T (p.Gly921=)
c.2736G>T (p.Gly912=)
c.2643G>T (p.Gly881=)
c.3516G>T (p.Gly1172=)
c.3555G>T (p.Gly1185=)
c.3471G>T (p.Gly1157=)
c.3501G>T (p.Gly1167=)
c.3579G>T (p.Gly1193=)
c.3570G>T (p.Gly1190=)
c.3531G>T (p.Gly1177=)
c.3630G>T (p.Gly1210=)
c.3627G>T (p.Gly1209=)
c.3618G>T (p.Gly1206=)
c.3612G>T (p.Gly1204=)
c.3609G>T (p.Gly1203=)
c.3567G>T (p.Gly1189=)
c.3564G>T (p.Gly1188=)
c.2670G>T (p.Gly890=)
2g.50091459C=CA1249373458NRXN1c.3582G= (p.Gly1194=)
n.749G=
c.469G= (n.469G=)
c.477G= (p.Gly159=)
c.3702G= (p.Gly1234=)
c.3546G= (p.Gly1182=)
c.-256G= (n.-256G=)
c.3558G= (p.Gly1186=)
n.391G=
c.3603G= (p.Gly1201=)
c.3600G= (p.Gly1200=)
c.3591G= (p.Gly1197=)
c.3585G= (p.Gly1195=)
c.3576G= (p.Gly1192=)
c.3573G= (p.Gly1191=)
c.3543G= (p.Gly1181=)
c.3513G= (p.Gly1171=)
c.2808G= (p.Gly936=)
c.2763G= (p.Gly921=)
c.2736G= (p.Gly912=)
c.2643G= (p.Gly881=)
c.3516G= (p.Gly1172=)
c.3555G= (p.Gly1185=)
c.3471G= (p.Gly1157=)
c.3501G= (p.Gly1167=)
c.3579G= (p.Gly1193=)
c.3570G= (p.Gly1190=)
c.3531G= (p.Gly1177=)
c.3630G= (p.Gly1210=)
c.3627G= (p.Gly1209=)
c.3618G= (p.Gly1206=)
c.3612G= (p.Gly1204=)
c.3609G= (p.Gly1203=)
c.3567G= (p.Gly1189=)
c.3564G= (p.Gly1188=)
c.2670G= (p.Gly890=)
2g.50091459C>GCA1654414NRXN1c.3582G>C (p.Gly1194=)
n.749G>C
c.469G>C (n.469G>C)
c.477G>C (p.Gly159=)
c.3702G>C (p.Gly1234=)
c.3546G>C (p.Gly1182=)
c.-256G>C (n.-256G>C)
c.3558G>C (p.Gly1186=)
n.391G>C
c.3603G>C (p.Gly1201=)
c.3600G>C (p.Gly1200=)
c.3591G>C (p.Gly1197=)
c.3585G>C (p.Gly1195=)
c.3576G>C (p.Gly1192=)
c.3573G>C (p.Gly1191=)
c.3543G>C (p.Gly1181=)
c.3513G>C (p.Gly1171=)
c.2808G>C (p.Gly936=)
c.2763G>C (p.Gly921=)
c.2736G>C (p.Gly912=)
c.2643G>C (p.Gly881=)
c.3516G>C (p.Gly1172=)
c.3555G>C (p.Gly1185=)
c.3471G>C (p.Gly1157=)
c.3501G>C (p.Gly1167=)
c.3579G>C (p.Gly1193=)
c.3570G>C (p.Gly1190=)
c.3531G>C (p.Gly1177=)
c.3630G>C (p.Gly1210=)
c.3627G>C (p.Gly1209=)
c.3618G>C (p.Gly1206=)
c.3612G>C (p.Gly1204=)
c.3609G>C (p.Gly1203=)
c.3567G>C (p.Gly1189=)
c.3564G>C (p.Gly1188=)
c.2670G>C (p.Gly890=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.50091459C>TCA426101665NRXN1c.3582G>A (p.Gly1194=)
n.749G>A
c.469G>A (n.469G>A)
c.477G>A (p.Gly159=)
c.3702G>A (p.Gly1234=)
c.3546G>A (p.Gly1182=)
c.-256G>A (n.-256G>A)
c.3558G>A (p.Gly1186=)
n.391G>A
c.3603G>A (p.Gly1201=)
c.3600G>A (p.Gly1200=)
c.3591G>A (p.Gly1197=)
c.3585G>A (p.Gly1195=)
c.3576G>A (p.Gly1192=)
c.3573G>A (p.Gly1191=)
c.3543G>A (p.Gly1181=)
c.3513G>A (p.Gly1171=)
c.2808G>A (p.Gly936=)
c.2763G>A (p.Gly921=)
c.2736G>A (p.Gly912=)
c.2643G>A (p.Gly881=)
c.3516G>A (p.Gly1172=)
c.3555G>A (p.Gly1185=)
c.3471G>A (p.Gly1157=)
c.3501G>A (p.Gly1167=)
c.3579G>A (p.Gly1193=)
c.3570G>A (p.Gly1190=)
c.3531G>A (p.Gly1177=)
c.3630G>A (p.Gly1210=)
c.3627G>A (p.Gly1209=)
c.3618G>A (p.Gly1206=)
c.3612G>A (p.Gly1204=)
c.3609G>A (p.Gly1203=)
c.3567G>A (p.Gly1189=)
c.3564G>A (p.Gly1188=)
c.2670G>A (p.Gly890=)
dbSNP gnomAD v2
2g.50091460C>ACA346819240NRXN1c.3581G>T (p.Gly1194Val)
n.748G>T
c.468G>T (n.468G>T)
c.476G>T (p.Gly159Val)
c.3701G>T (p.Gly1234Val)
c.3545G>T (p.Gly1182Val)
c.-257G>T (n.-257G>T)
c.3557G>T (p.Gly1186Val)
n.390G>T
c.3602G>T (p.Gly1201Val)
c.3599G>T (p.Gly1200Val)
c.3590G>T (p.Gly1197Val)
c.3584G>T (p.Gly1195Val)
c.3575G>T (p.Gly1192Val)
c.3572G>T (p.Gly1191Val)
c.3542G>T (p.Gly1181Val)
c.3512G>T (p.Gly1171Val)
c.2807G>T (p.Gly936Val)
c.2762G>T (p.Gly921Val)
c.2735G>T (p.Gly912Val)
c.2642G>T (p.Gly881Val)
c.3515G>T (p.Gly1172Val)
c.3554G>T (p.Gly1185Val)
c.3470G>T (p.Gly1157Val)
c.3500G>T (p.Gly1167Val)
c.3578G>T (p.Gly1193Val)
c.3569G>T (p.Gly1190Val)
c.3530G>T (p.Gly1177Val)
c.3629G>T (p.Gly1210Val)
c.3626G>T (p.Gly1209Val)
c.3617G>T (p.Gly1206Val)
c.3611G>T (p.Gly1204Val)
c.3608G>T (p.Gly1203Val)
c.3566G>T (p.Gly1189Val)
c.3563G>T (p.Gly1188Val)
c.2669G>T (p.Gly890Val)
2g.50091460C>GCA346819239NRXN1c.3581G>C (p.Gly1194Ala)
n.748G>C
c.468G>C (n.468G>C)
c.476G>C (p.Gly159Ala)
c.3701G>C (p.Gly1234Ala)
c.3545G>C (p.Gly1182Ala)
c.-257G>C (n.-257G>C)
c.3557G>C (p.Gly1186Ala)
n.390G>C
c.3602G>C (p.Gly1201Ala)
c.3599G>C (p.Gly1200Ala)
c.3590G>C (p.Gly1197Ala)
c.3584G>C (p.Gly1195Ala)
c.3575G>C (p.Gly1192Ala)
c.3572G>C (p.Gly1191Ala)
c.3542G>C (p.Gly1181Ala)
c.3512G>C (p.Gly1171Ala)
c.2807G>C (p.Gly936Ala)
c.2762G>C (p.Gly921Ala)
c.2735G>C (p.Gly912Ala)
c.2642G>C (p.Gly881Ala)
c.3515G>C (p.Gly1172Ala)
c.3554G>C (p.Gly1185Ala)
c.3470G>C (p.Gly1157Ala)
c.3500G>C (p.Gly1167Ala)
c.3578G>C (p.Gly1193Ala)
c.3569G>C (p.Gly1190Ala)
c.3530G>C (p.Gly1177Ala)
c.3629G>C (p.Gly1210Ala)
c.3626G>C (p.Gly1209Ala)
c.3617G>C (p.Gly1206Ala)
c.3611G>C (p.Gly1204Ala)
c.3608G>C (p.Gly1203Ala)
c.3566G>C (p.Gly1189Ala)
c.3563G>C (p.Gly1188Ala)
c.2669G>C (p.Gly890Ala)
2g.50091460C>TCA346819238NRXN1c.3581G>A (p.Gly1194Glu)
n.748G>A
c.468G>A (n.468G>A)
c.476G>A (p.Gly159Glu)
c.3701G>A (p.Gly1234Glu)
c.3545G>A (p.Gly1182Glu)
c.-257G>A (n.-257G>A)
c.3557G>A (p.Gly1186Glu)
n.390G>A
c.3602G>A (p.Gly1201Glu)
c.3599G>A (p.Gly1200Glu)
c.3590G>A (p.Gly1197Glu)
c.3584G>A (p.Gly1195Glu)
c.3575G>A (p.Gly1192Glu)
c.3572G>A (p.Gly1191Glu)
c.3542G>A (p.Gly1181Glu)
c.3512G>A (p.Gly1171Glu)
c.2807G>A (p.Gly936Glu)
c.2762G>A (p.Gly921Glu)
c.2735G>A (p.Gly912Glu)
c.2642G>A (p.Gly881Glu)
c.3515G>A (p.Gly1172Glu)
c.3554G>A (p.Gly1185Glu)
c.3470G>A (p.Gly1157Glu)
c.3500G>A (p.Gly1167Glu)
c.3578G>A (p.Gly1193Glu)
c.3569G>A (p.Gly1190Glu)
c.3530G>A (p.Gly1177Glu)
c.3629G>A (p.Gly1210Glu)
c.3626G>A (p.Gly1209Glu)
c.3617G>A (p.Gly1206Glu)
c.3611G>A (p.Gly1204Glu)
c.3608G>A (p.Gly1203Glu)
c.3566G>A (p.Gly1189Glu)
c.3563G>A (p.Gly1188Glu)
c.2669G>A (p.Gly890Glu)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.50091461C>ACA346819241NRXN1c.3580G>T (p.Gly1194Trp)
n.747G>T
c.467G>T (n.467G>T)
c.475G>T (p.Gly159Trp)
c.3700G>T (p.Gly1234Trp)
c.3544G>T (p.Gly1182Trp)
c.-258G>T (n.-258G>T)
c.3556G>T (p.Gly1186Trp)
n.389G>T
c.3601G>T (p.Gly1201Trp)
c.3598G>T (p.Gly1200Trp)
c.3589G>T (p.Gly1197Trp)
c.3583G>T (p.Gly1195Trp)
c.3574G>T (p.Gly1192Trp)
c.3571G>T (p.Gly1191Trp)
c.3541G>T (p.Gly1181Trp)
c.3511G>T (p.Gly1171Trp)
c.2806G>T (p.Gly936Trp)
c.2761G>T (p.Gly921Trp)
c.2734G>T (p.Gly912Trp)
c.2641G>T (p.Gly881Trp)
c.3514G>T (p.Gly1172Trp)
c.3553G>T (p.Gly1185Trp)
c.3469G>T (p.Gly1157Trp)
c.3499G>T (p.Gly1167Trp)
c.3577G>T (p.Gly1193Trp)
c.3568G>T (p.Gly1190Trp)
c.3529G>T (p.Gly1177Trp)
c.3628G>T (p.Gly1210Trp)
c.3625G>T (p.Gly1209Trp)
c.3616G>T (p.Gly1206Trp)
c.3610G>T (p.Gly1204Trp)
c.3607G>T (p.Gly1203Trp)
c.3565G>T (p.Gly1189Trp)
c.3562G>T (p.Gly1188Trp)
c.2668G>T (p.Gly890Trp)
2g.50091461C>GCA346819242NRXN1c.3580G>C (p.Gly1194Arg)
n.747G>C
c.467G>C (n.467G>C)
c.475G>C (p.Gly159Arg)
c.3700G>C (p.Gly1234Arg)
c.3544G>C (p.Gly1182Arg)
c.-258G>C (n.-258G>C)
c.3556G>C (p.Gly1186Arg)
n.389G>C
c.3601G>C (p.Gly1201Arg)
c.3598G>C (p.Gly1200Arg)
c.3589G>C (p.Gly1197Arg)
c.3583G>C (p.Gly1195Arg)
c.3574G>C (p.Gly1192Arg)
c.3571G>C (p.Gly1191Arg)
c.3541G>C (p.Gly1181Arg)
c.3511G>C (p.Gly1171Arg)
c.2806G>C (p.Gly936Arg)
c.2761G>C (p.Gly921Arg)
c.2734G>C (p.Gly912Arg)
c.2641G>C (p.Gly881Arg)
c.3514G>C (p.Gly1172Arg)
c.3553G>C (p.Gly1185Arg)
c.3469G>C (p.Gly1157Arg)
c.3499G>C (p.Gly1167Arg)
c.3577G>C (p.Gly1193Arg)
c.3568G>C (p.Gly1190Arg)
c.3529G>C (p.Gly1177Arg)
c.3628G>C (p.Gly1210Arg)
c.3625G>C (p.Gly1209Arg)
c.3616G>C (p.Gly1206Arg)
c.3610G>C (p.Gly1204Arg)
c.3607G>C (p.Gly1203Arg)
c.3565G>C (p.Gly1189Arg)
c.3562G>C (p.Gly1188Arg)
c.2668G>C (p.Gly890Arg)
2g.50091461C>TCA346819243NRXN1c.3580G>A (p.Gly1194Arg)
n.747G>A
c.467G>A (n.467G>A)
c.475G>A (p.Gly159Arg)
c.3700G>A (p.Gly1234Arg)
c.3544G>A (p.Gly1182Arg)
c.-258G>A (n.-258G>A)
c.3556G>A (p.Gly1186Arg)
n.389G>A
c.3601G>A (p.Gly1201Arg)
c.3598G>A (p.Gly1200Arg)
c.3589G>A (p.Gly1197Arg)
c.3583G>A (p.Gly1195Arg)
c.3574G>A (p.Gly1192Arg)
c.3571G>A (p.Gly1191Arg)
c.3541G>A (p.Gly1181Arg)
c.3511G>A (p.Gly1171Arg)
c.2806G>A (p.Gly936Arg)
c.2761G>A (p.Gly921Arg)
c.2734G>A (p.Gly912Arg)
c.2641G>A (p.Gly881Arg)
c.3514G>A (p.Gly1172Arg)
c.3553G>A (p.Gly1185Arg)
c.3469G>A (p.Gly1157Arg)
c.3499G>A (p.Gly1167Arg)
c.3577G>A (p.Gly1193Arg)
c.3568G>A (p.Gly1190Arg)
c.3529G>A (p.Gly1177Arg)
c.3628G>A (p.Gly1210Arg)
c.3625G>A (p.Gly1209Arg)
c.3616G>A (p.Gly1206Arg)
c.3610G>A (p.Gly1204Arg)
c.3607G>A (p.Gly1203Arg)
c.3565G>A (p.Gly1189Arg)
c.3562G>A (p.Gly1188Arg)
c.2668G>A (p.Gly890Arg)
2g.50091462A>CCA426101666NRXN1c.3579T>G (p.Val1193=)
n.746T>G
c.466T>G (n.466T>G)
c.474T>G (p.Val158=)
c.3699T>G (p.Val1233=)
c.3543T>G (p.Val1181=)
c.-259T>G (n.-259T>G)
c.3555T>G (p.Val1185=)
n.388T>G
c.3600T>G (p.Val1200=)
c.3597T>G (p.Val1199=)
c.3588T>G (p.Val1196=)
c.3582T>G (p.Val1194=)
c.3573T>G (p.Val1191=)
c.3570T>G (p.Val1190=)
c.3540T>G (p.Val1180=)
c.3510T>G (p.Val1170=)
c.2805T>G (p.Val935=)
c.2760T>G (p.Val920=)
c.2733T>G (p.Val911=)
c.2640T>G (p.Val880=)
c.3513T>G (p.Val1171=)
c.3552T>G (p.Val1184=)
c.3468T>G (p.Val1156=)
c.3498T>G (p.Val1166=)
c.3576T>G (p.Val1192=)
c.3567T>G (p.Val1189=)
c.3528T>G (p.Val1176=)
c.3627T>G (p.Val1209=)
c.3624T>G (p.Val1208=)
c.3615T>G (p.Val1205=)
c.3609T>G (p.Val1203=)
c.3606T>G (p.Val1202=)
c.3564T>G (p.Val1188=)
c.3561T>G (p.Val1187=)
c.2667T>G (p.Val889=)
2g.50091462A>GCA426101667NRXN1c.3579T>C (p.Val1193=)
n.746T>C
c.466T>C (n.466T>C)
c.474T>C (p.Val158=)
c.3699T>C (p.Val1233=)
c.3543T>C (p.Val1181=)
c.-259T>C (n.-259T>C)
c.3555T>C (p.Val1185=)
n.388T>C
c.3600T>C (p.Val1200=)
c.3597T>C (p.Val1199=)
c.3588T>C (p.Val1196=)
c.3582T>C (p.Val1194=)
c.3573T>C (p.Val1191=)
c.3570T>C (p.Val1190=)
c.3540T>C (p.Val1180=)
c.3510T>C (p.Val1170=)
c.2805T>C (p.Val935=)
c.2760T>C (p.Val920=)
c.2733T>C (p.Val911=)
c.2640T>C (p.Val880=)
c.3513T>C (p.Val1171=)
c.3552T>C (p.Val1184=)
c.3468T>C (p.Val1156=)
c.3498T>C (p.Val1166=)
c.3576T>C (p.Val1192=)
c.3567T>C (p.Val1189=)
c.3528T>C (p.Val1176=)
c.3627T>C (p.Val1209=)
c.3624T>C (p.Val1208=)
c.3615T>C (p.Val1205=)
c.3609T>C (p.Val1203=)
c.3606T>C (p.Val1202=)
c.3564T>C (p.Val1188=)
c.3561T>C (p.Val1187=)
c.2667T>C (p.Val889=)
2g.50091462A>TCA426101669NRXN1c.3579T>A (p.Val1193=)
n.746T>A
c.466T>A (n.466T>A)
c.474T>A (p.Val158=)
c.3699T>A (p.Val1233=)
c.3543T>A (p.Val1181=)
c.-259T>A (n.-259T>A)
c.3555T>A (p.Val1185=)
n.388T>A
c.3600T>A (p.Val1200=)
c.3597T>A (p.Val1199=)
c.3588T>A (p.Val1196=)
c.3582T>A (p.Val1194=)
c.3573T>A (p.Val1191=)
c.3570T>A (p.Val1190=)
c.3540T>A (p.Val1180=)
c.3510T>A (p.Val1170=)
c.2805T>A (p.Val935=)
c.2760T>A (p.Val920=)
c.2733T>A (p.Val911=)
c.2640T>A (p.Val880=)
c.3513T>A (p.Val1171=)
c.3552T>A (p.Val1184=)
c.3468T>A (p.Val1156=)
c.3498T>A (p.Val1166=)
c.3576T>A (p.Val1192=)
c.3567T>A (p.Val1189=)
c.3528T>A (p.Val1176=)
c.3627T>A (p.Val1209=)
c.3624T>A (p.Val1208=)
c.3615T>A (p.Val1205=)
c.3609T>A (p.Val1203=)
c.3606T>A (p.Val1202=)
c.3564T>A (p.Val1188=)
c.3561T>A (p.Val1187=)
c.2667T>A (p.Val889=)
2g.50091463A=CA1249373459NRXN1c.3578T= (p.Val1193=)
n.745T=
c.465T= (n.465T=)
c.473T= (p.Val158=)
c.3698T= (p.Val1233=)
c.3542T= (p.Val1181=)
c.-260T= (n.-260T=)
c.3554T= (p.Val1185=)
n.387T=
c.3599T= (p.Val1200=)
c.3596T= (p.Val1199=)
c.3587T= (p.Val1196=)
c.3581T= (p.Val1194=)
c.3572T= (p.Val1191=)
c.3569T= (p.Val1190=)
c.3539T= (p.Val1180=)
c.3509T= (p.Val1170=)
c.2804T= (p.Val935=)
c.2759T= (p.Val920=)
c.2732T= (p.Val911=)
c.2639T= (p.Val880=)
c.3512T= (p.Val1171=)
c.3551T= (p.Val1184=)
c.3467T= (p.Val1156=)
c.3497T= (p.Val1166=)
c.3575T= (p.Val1192=)
c.3566T= (p.Val1189=)
c.3527T= (p.Val1176=)
c.3626T= (p.Val1209=)
c.3623T= (p.Val1208=)
c.3614T= (p.Val1205=)
c.3608T= (p.Val1203=)
c.3605T= (p.Val1202=)
c.3563T= (p.Val1188=)
c.3560T= (p.Val1187=)
c.2666T= (p.Val889=)
2g.50091463A>CCA346819244NRXN1c.3578T>G (p.Val1193Gly)
n.745T>G
c.465T>G (n.465T>G)
c.473T>G (p.Val158Gly)
c.3698T>G (p.Val1233Gly)
c.3542T>G (p.Val1181Gly)
c.-260T>G (n.-260T>G)
c.3554T>G (p.Val1185Gly)
n.387T>G
c.3599T>G (p.Val1200Gly)
c.3596T>G (p.Val1199Gly)
c.3587T>G (p.Val1196Gly)
c.3581T>G (p.Val1194Gly)
c.3572T>G (p.Val1191Gly)
c.3569T>G (p.Val1190Gly)
c.3539T>G (p.Val1180Gly)
c.3509T>G (p.Val1170Gly)
c.2804T>G (p.Val935Gly)
c.2759T>G (p.Val920Gly)
c.2732T>G (p.Val911Gly)
c.2639T>G (p.Val880Gly)
c.3512T>G (p.Val1171Gly)
c.3551T>G (p.Val1184Gly)
c.3467T>G (p.Val1156Gly)
c.3497T>G (p.Val1166Gly)
c.3575T>G (p.Val1192Gly)
c.3566T>G (p.Val1189Gly)
c.3527T>G (p.Val1176Gly)
c.3626T>G (p.Val1209Gly)
c.3623T>G (p.Val1208Gly)
c.3614T>G (p.Val1205Gly)
c.3608T>G (p.Val1203Gly)
c.3605T>G (p.Val1202Gly)
c.3563T>G (p.Val1188Gly)
c.3560T>G (p.Val1187Gly)
c.2666T>G (p.Val889Gly)
2g.50091463A>GCA346819245NRXN1c.3578T>C (p.Val1193Ala)
n.745T>C
c.465T>C (n.465T>C)
c.473T>C (p.Val158Ala)
c.3698T>C (p.Val1233Ala)
c.3542T>C (p.Val1181Ala)
c.-260T>C (n.-260T>C)
c.3554T>C (p.Val1185Ala)
n.387T>C
c.3599T>C (p.Val1200Ala)
c.3596T>C (p.Val1199Ala)
c.3587T>C (p.Val1196Ala)
c.3581T>C (p.Val1194Ala)
c.3572T>C (p.Val1191Ala)
c.3569T>C (p.Val1190Ala)
c.3539T>C (p.Val1180Ala)
c.3509T>C (p.Val1170Ala)
c.2804T>C (p.Val935Ala)
c.2759T>C (p.Val920Ala)
c.2732T>C (p.Val911Ala)
c.2639T>C (p.Val880Ala)
c.3512T>C (p.Val1171Ala)
c.3551T>C (p.Val1184Ala)
c.3467T>C (p.Val1156Ala)
c.3497T>C (p.Val1166Ala)
c.3575T>C (p.Val1192Ala)
c.3566T>C (p.Val1189Ala)
c.3527T>C (p.Val1176Ala)
c.3626T>C (p.Val1209Ala)
c.3623T>C (p.Val1208Ala)
c.3614T>C (p.Val1205Ala)
c.3608T>C (p.Val1203Ala)
c.3605T>C (p.Val1202Ala)
c.3563T>C (p.Val1188Ala)
c.3560T>C (p.Val1187Ala)
c.2666T>C (p.Val889Ala)
dbSNP gnomAD v4
2g.50091463A>TCA346819246NRXN1c.3578T>A (p.Val1193Asp)
n.745T>A
c.465T>A (n.465T>A)
c.473T>A (p.Val158Asp)
c.3698T>A (p.Val1233Asp)
c.3542T>A (p.Val1181Asp)
c.-260T>A (n.-260T>A)
c.3554T>A (p.Val1185Asp)
n.387T>A
c.3599T>A (p.Val1200Asp)
c.3596T>A (p.Val1199Asp)
c.3587T>A (p.Val1196Asp)
c.3581T>A (p.Val1194Asp)
c.3572T>A (p.Val1191Asp)
c.3569T>A (p.Val1190Asp)
c.3539T>A (p.Val1180Asp)
c.3509T>A (p.Val1170Asp)
c.2804T>A (p.Val935Asp)
c.2759T>A (p.Val920Asp)
c.2732T>A (p.Val911Asp)
c.2639T>A (p.Val880Asp)
c.3512T>A (p.Val1171Asp)
c.3551T>A (p.Val1184Asp)
c.3467T>A (p.Val1156Asp)
c.3497T>A (p.Val1166Asp)
c.3575T>A (p.Val1192Asp)
c.3566T>A (p.Val1189Asp)
c.3527T>A (p.Val1176Asp)
c.3626T>A (p.Val1209Asp)
c.3623T>A (p.Val1208Asp)
c.3614T>A (p.Val1205Asp)
c.3608T>A (p.Val1203Asp)
c.3605T>A (p.Val1202Asp)
c.3563T>A (p.Val1188Asp)
c.3560T>A (p.Val1187Asp)
c.2666T>A (p.Val889Asp)
2g.50091464C>ACA346819249NRXN1c.3577G>T (p.Val1193Phe)
n.744G>T
c.464G>T (n.464G>T)
c.472G>T (p.Val158Phe)
c.3697G>T (p.Val1233Phe)
c.3541G>T (p.Val1181Phe)
c.-261G>T (n.-261G>T)
c.3553G>T (p.Val1185Phe)
n.386G>T
c.3598G>T (p.Val1200Phe)
c.3595G>T (p.Val1199Phe)
c.3586G>T (p.Val1196Phe)
c.3580G>T (p.Val1194Phe)
c.3571G>T (p.Val1191Phe)
c.3568G>T (p.Val1190Phe)
c.3538G>T (p.Val1180Phe)
c.3508G>T (p.Val1170Phe)
c.2803G>T (p.Val935Phe)
c.2758G>T (p.Val920Phe)
c.2731G>T (p.Val911Phe)
c.2638G>T (p.Val880Phe)
c.3511G>T (p.Val1171Phe)
c.3550G>T (p.Val1184Phe)
c.3466G>T (p.Val1156Phe)
c.3496G>T (p.Val1166Phe)
c.3574G>T (p.Val1192Phe)
c.3565G>T (p.Val1189Phe)
c.3526G>T (p.Val1176Phe)
c.3625G>T (p.Val1209Phe)
c.3622G>T (p.Val1208Phe)
c.3613G>T (p.Val1205Phe)
c.3607G>T (p.Val1203Phe)
c.3604G>T (p.Val1202Phe)
c.3562G>T (p.Val1188Phe)
c.3559G>T (p.Val1187Phe)
c.2665G>T (p.Val889Phe)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.50091464C>GCA346819247NRXN1c.3577G>C (p.Val1193Leu)
n.744G>C
c.464G>C (n.464G>C)
c.472G>C (p.Val158Leu)
c.3697G>C (p.Val1233Leu)
c.3541G>C (p.Val1181Leu)
c.-261G>C (n.-261G>C)
c.3553G>C (p.Val1185Leu)
n.386G>C
c.3598G>C (p.Val1200Leu)
c.3595G>C (p.Val1199Leu)
c.3586G>C (p.Val1196Leu)
c.3580G>C (p.Val1194Leu)
c.3571G>C (p.Val1191Leu)
c.3568G>C (p.Val1190Leu)
c.3538G>C (p.Val1180Leu)
c.3508G>C (p.Val1170Leu)
c.2803G>C (p.Val935Leu)
c.2758G>C (p.Val920Leu)
c.2731G>C (p.Val911Leu)
c.2638G>C (p.Val880Leu)
c.3511G>C (p.Val1171Leu)
c.3550G>C (p.Val1184Leu)
c.3466G>C (p.Val1156Leu)
c.3496G>C (p.Val1166Leu)
c.3574G>C (p.Val1192Leu)
c.3565G>C (p.Val1189Leu)
c.3526G>C (p.Val1176Leu)
c.3625G>C (p.Val1209Leu)
c.3622G>C (p.Val1208Leu)
c.3613G>C (p.Val1205Leu)
c.3607G>C (p.Val1203Leu)
c.3604G>C (p.Val1202Leu)
c.3562G>C (p.Val1188Leu)
c.3559G>C (p.Val1187Leu)
c.2665G>C (p.Val889Leu)
2g.50091464C>TCA346819248NRXN1c.3577G>A (p.Val1193Ile)
n.744G>A
c.464G>A (n.464G>A)
c.472G>A (p.Val158Ile)
c.3697G>A (p.Val1233Ile)
c.3541G>A (p.Val1181Ile)
c.-261G>A (n.-261G>A)
c.3553G>A (p.Val1185Ile)
n.386G>A
c.3598G>A (p.Val1200Ile)
c.3595G>A (p.Val1199Ile)
c.3586G>A (p.Val1196Ile)
c.3580G>A (p.Val1194Ile)
c.3571G>A (p.Val1191Ile)
c.3568G>A (p.Val1190Ile)
c.3538G>A (p.Val1180Ile)
c.3508G>A (p.Val1170Ile)
c.2803G>A (p.Val935Ile)
c.2758G>A (p.Val920Ile)
c.2731G>A (p.Val911Ile)
c.2638G>A (p.Val880Ile)
c.3511G>A (p.Val1171Ile)
c.3550G>A (p.Val1184Ile)
c.3466G>A (p.Val1156Ile)
c.3496G>A (p.Val1166Ile)
c.3574G>A (p.Val1192Ile)
c.3565G>A (p.Val1189Ile)
c.3526G>A (p.Val1176Ile)
c.3625G>A (p.Val1209Ile)
c.3622G>A (p.Val1208Ile)
c.3613G>A (p.Val1205Ile)
c.3607G>A (p.Val1203Ile)
c.3604G>A (p.Val1202Ile)
c.3562G>A (p.Val1188Ile)
c.3559G>A (p.Val1187Ile)
c.2665G>A (p.Val889Ile)
2g.50091465A=CA1249373460NRXN1c.3576T= (p.Asn1192=)
n.743T=
c.463T= (n.463T=)
c.471T= (p.Asn157=)
c.3696T= (p.Asn1232=)
c.3540T= (p.Asn1180=)
c.-262T= (n.-262T=)
c.3552T= (p.Asn1184=)
n.385T=
c.3597T= (p.Asn1199=)
c.3594T= (p.Asn1198=)
c.3585T= (p.Asn1195=)
c.3579T= (p.Asn1193=)
c.3570T= (p.Asn1190=)
c.3567T= (p.Asn1189=)
c.3537T= (p.Asn1179=)
c.3507T= (p.Asn1169=)
c.2802T= (p.Asn934=)
c.2757T= (p.Asn919=)
c.2730T= (p.Asn910=)
c.2637T= (p.Asn879=)
c.3510T= (p.Asn1170=)
c.3549T= (p.Asn1183=)
c.3465T= (p.Asn1155=)
c.3495T= (p.Asn1165=)
c.3573T= (p.Asn1191=)
c.3564T= (p.Asn1188=)
c.3525T= (p.Asn1175=)
c.3624T= (p.Asn1208=)
c.3621T= (p.Asn1207=)
c.3612T= (p.Asn1204=)
c.3606T= (p.Asn1202=)
c.3603T= (p.Asn1201=)
c.3561T= (p.Asn1187=)
c.3558T= (p.Asn1186=)
c.2664T= (p.Asn888=)
2g.50091465A>CCA346819250NRXN1c.3576T>G (p.Asn1192Lys)
n.743T>G
c.463T>G (n.463T>G)
c.471T>G (p.Asn157Lys)
c.3696T>G (p.Asn1232Lys)
c.3540T>G (p.Asn1180Lys)
c.-262T>G (n.-262T>G)
c.3552T>G (p.Asn1184Lys)
n.385T>G
c.3597T>G (p.Asn1199Lys)
c.3594T>G (p.Asn1198Lys)
c.3585T>G (p.Asn1195Lys)
c.3579T>G (p.Asn1193Lys)
c.3570T>G (p.Asn1190Lys)
c.3567T>G (p.Asn1189Lys)
c.3537T>G (p.Asn1179Lys)
c.3507T>G (p.Asn1169Lys)
c.2802T>G (p.Asn934Lys)
c.2757T>G (p.Asn919Lys)
c.2730T>G (p.Asn910Lys)
c.2637T>G (p.Asn879Lys)
c.3510T>G (p.Asn1170Lys)
c.3549T>G (p.Asn1183Lys)
c.3465T>G (p.Asn1155Lys)
c.3495T>G (p.Asn1165Lys)
c.3573T>G (p.Asn1191Lys)
c.3564T>G (p.Asn1188Lys)
c.3525T>G (p.Asn1175Lys)
c.3624T>G (p.Asn1208Lys)
c.3621T>G (p.Asn1207Lys)
c.3612T>G (p.Asn1204Lys)
c.3606T>G (p.Asn1202Lys)
c.3603T>G (p.Asn1201Lys)
c.3561T>G (p.Asn1187Lys)
c.3558T>G (p.Asn1186Lys)
c.2664T>G (p.Asn888Lys)
2g.50091465A>GCA426101672NRXN1c.3576T>C (p.Asn1192=)
n.743T>C
c.463T>C (n.463T>C)
c.471T>C (p.Asn157=)
c.3696T>C (p.Asn1232=)
c.3540T>C (p.Asn1180=)
c.-262T>C (n.-262T>C)
c.3552T>C (p.Asn1184=)
n.385T>C
c.3597T>C (p.Asn1199=)
c.3594T>C (p.Asn1198=)
c.3585T>C (p.Asn1195=)
c.3579T>C (p.Asn1193=)
c.3570T>C (p.Asn1190=)
c.3567T>C (p.Asn1189=)
c.3537T>C (p.Asn1179=)
c.3507T>C (p.Asn1169=)
c.2802T>C (p.Asn934=)
c.2757T>C (p.Asn919=)
c.2730T>C (p.Asn910=)
c.2637T>C (p.Asn879=)
c.3510T>C (p.Asn1170=)
c.3549T>C (p.Asn1183=)
c.3465T>C (p.Asn1155=)
c.3495T>C (p.Asn1165=)
c.3573T>C (p.Asn1191=)
c.3564T>C (p.Asn1188=)
c.3525T>C (p.Asn1175=)
c.3624T>C (p.Asn1208=)
c.3621T>C (p.Asn1207=)
c.3612T>C (p.Asn1204=)
c.3606T>C (p.Asn1202=)
c.3603T>C (p.Asn1201=)
c.3561T>C (p.Asn1187=)
c.3558T>C (p.Asn1186=)
c.2664T>C (p.Asn888=)
ClinVar dbSNP gnomAD v4
2g.50091465A>TCA346819251NRXN1c.3576T>A (p.Asn1192Lys)
n.743T>A
c.463T>A (n.463T>A)
c.471T>A (p.Asn157Lys)
c.3696T>A (p.Asn1232Lys)
c.3540T>A (p.Asn1180Lys)
c.-262T>A (n.-262T>A)
c.3552T>A (p.Asn1184Lys)
n.385T>A
c.3597T>A (p.Asn1199Lys)
c.3594T>A (p.Asn1198Lys)
c.3585T>A (p.Asn1195Lys)
c.3579T>A (p.Asn1193Lys)
c.3570T>A (p.Asn1190Lys)
c.3567T>A (p.Asn1189Lys)
c.3537T>A (p.Asn1179Lys)
c.3507T>A (p.Asn1169Lys)
c.2802T>A (p.Asn934Lys)
c.2757T>A (p.Asn919Lys)
c.2730T>A (p.Asn910Lys)
c.2637T>A (p.Asn879Lys)
c.3510T>A (p.Asn1170Lys)
c.3549T>A (p.Asn1183Lys)
c.3465T>A (p.Asn1155Lys)
c.3495T>A (p.Asn1165Lys)
c.3573T>A (p.Asn1191Lys)
c.3564T>A (p.Asn1188Lys)
c.3525T>A (p.Asn1175Lys)
c.3624T>A (p.Asn1208Lys)
c.3621T>A (p.Asn1207Lys)
c.3612T>A (p.Asn1204Lys)
c.3606T>A (p.Asn1202Lys)
c.3603T>A (p.Asn1201Lys)
c.3561T>A (p.Asn1187Lys)
c.3558T>A (p.Asn1186Lys)
c.2664T>A (p.Asn888Lys)
2g.50091466T>ACA346819252NRXN1c.3575A>T (p.Asn1192Ile)
n.742A>T
c.462A>T (n.462A>T)
c.470A>T (p.Asn157Ile)
c.3695A>T (p.Asn1232Ile)
c.3539A>T (p.Asn1180Ile)
c.-263A>T (n.-263A>T)
c.3551A>T (p.Asn1184Ile)
n.384A>T
c.3596A>T (p.Asn1199Ile)
c.3593A>T (p.Asn1198Ile)
c.3584A>T (p.Asn1195Ile)
c.3578A>T (p.Asn1193Ile)
c.3569A>T (p.Asn1190Ile)
c.3566A>T (p.Asn1189Ile)
c.3536A>T (p.Asn1179Ile)
c.3506A>T (p.Asn1169Ile)
c.2801A>T (p.Asn934Ile)
c.2756A>T (p.Asn919Ile)
c.2729A>T (p.Asn910Ile)
c.2636A>T (p.Asn879Ile)
c.3509A>T (p.Asn1170Ile)
c.3548A>T (p.Asn1183Ile)
c.3464A>T (p.Asn1155Ile)
c.3494A>T (p.Asn1165Ile)
c.3572A>T (p.Asn1191Ile)
c.3563A>T (p.Asn1188Ile)
c.3524A>T (p.Asn1175Ile)
c.3623A>T (p.Asn1208Ile)
c.3620A>T (p.Asn1207Ile)
c.3611A>T (p.Asn1204Ile)
c.3605A>T (p.Asn1202Ile)
c.3602A>T (p.Asn1201Ile)
c.3560A>T (p.Asn1187Ile)
c.3557A>T (p.Asn1186Ile)
c.2663A>T (p.Asn888Ile)
2g.50091466T>CCA346819253NRXN1c.3575A>G (p.Asn1192Ser)
n.742A>G
c.462A>G (n.462A>G)
c.470A>G (p.Asn157Ser)
c.3695A>G (p.Asn1232Ser)
c.3539A>G (p.Asn1180Ser)
c.-263A>G (n.-263A>G)
c.3551A>G (p.Asn1184Ser)
n.384A>G
c.3596A>G (p.Asn1199Ser)
c.3593A>G (p.Asn1198Ser)
c.3584A>G (p.Asn1195Ser)
c.3578A>G (p.Asn1193Ser)
c.3569A>G (p.Asn1190Ser)
c.3566A>G (p.Asn1189Ser)
c.3536A>G (p.Asn1179Ser)
c.3506A>G (p.Asn1169Ser)
c.2801A>G (p.Asn934Ser)
c.2756A>G (p.Asn919Ser)
c.2729A>G (p.Asn910Ser)
c.2636A>G (p.Asn879Ser)
c.3509A>G (p.Asn1170Ser)
c.3548A>G (p.Asn1183Ser)
c.3464A>G (p.Asn1155Ser)
c.3494A>G (p.Asn1165Ser)
c.3572A>G (p.Asn1191Ser)
c.3563A>G (p.Asn1188Ser)
c.3524A>G (p.Asn1175Ser)
c.3623A>G (p.Asn1208Ser)
c.3620A>G (p.Asn1207Ser)
c.3611A>G (p.Asn1204Ser)
c.3605A>G (p.Asn1202Ser)
c.3602A>G (p.Asn1201Ser)
c.3560A>G (p.Asn1187Ser)
c.3557A>G (p.Asn1186Ser)
c.2663A>G (p.Asn888Ser)
2g.50091466T>GCA346819254NRXN1c.3575A>C (p.Asn1192Thr)
n.742A>C
c.462A>C (n.462A>C)
c.470A>C (p.Asn157Thr)
c.3695A>C (p.Asn1232Thr)
c.3539A>C (p.Asn1180Thr)
c.-263A>C (n.-263A>C)
c.3551A>C (p.Asn1184Thr)
n.384A>C
c.3596A>C (p.Asn1199Thr)
c.3593A>C (p.Asn1198Thr)
c.3584A>C (p.Asn1195Thr)
c.3578A>C (p.Asn1193Thr)
c.3569A>C (p.Asn1190Thr)
c.3566A>C (p.Asn1189Thr)
c.3536A>C (p.Asn1179Thr)
c.3506A>C (p.Asn1169Thr)
c.2801A>C (p.Asn934Thr)
c.2756A>C (p.Asn919Thr)
c.2729A>C (p.Asn910Thr)
c.2636A>C (p.Asn879Thr)
c.3509A>C (p.Asn1170Thr)
c.3548A>C (p.Asn1183Thr)
c.3464A>C (p.Asn1155Thr)
c.3494A>C (p.Asn1165Thr)
c.3572A>C (p.Asn1191Thr)
c.3563A>C (p.Asn1188Thr)
c.3524A>C (p.Asn1175Thr)
c.3623A>C (p.Asn1208Thr)
c.3620A>C (p.Asn1207Thr)
c.3611A>C (p.Asn1204Thr)
c.3605A>C (p.Asn1202Thr)
c.3602A>C (p.Asn1201Thr)
c.3560A>C (p.Asn1187Thr)
c.3557A>C (p.Asn1186Thr)
c.2663A>C (p.Asn888Thr)
2g.50091467T>ACA346819257NRXN1c.3574A>T (p.Asn1192Tyr)
n.741A>T
c.461A>T (n.461A>T)
c.469A>T (p.Asn157Tyr)
c.3694A>T (p.Asn1232Tyr)
c.3538A>T (p.Asn1180Tyr)
c.-264A>T (n.-264A>T)
c.3550A>T (p.Asn1184Tyr)
n.383A>T
c.3595A>T (p.Asn1199Tyr)
c.3592A>T (p.Asn1198Tyr)
c.3583A>T (p.Asn1195Tyr)
c.3577A>T (p.Asn1193Tyr)
c.3568A>T (p.Asn1190Tyr)
c.3565A>T (p.Asn1189Tyr)
c.3535A>T (p.Asn1179Tyr)
c.3505A>T (p.Asn1169Tyr)
c.2800A>T (p.Asn934Tyr)
c.2755A>T (p.Asn919Tyr)
c.2728A>T (p.Asn910Tyr)
c.2635A>T (p.Asn879Tyr)
c.3508A>T (p.Asn1170Tyr)
c.3547A>T (p.Asn1183Tyr)
c.3463A>T (p.Asn1155Tyr)
c.3493A>T (p.Asn1165Tyr)
c.3571A>T (p.Asn1191Tyr)
c.3562A>T (p.Asn1188Tyr)
c.3523A>T (p.Asn1175Tyr)
c.3622A>T (p.Asn1208Tyr)
c.3619A>T (p.Asn1207Tyr)
c.3610A>T (p.Asn1204Tyr)
c.3604A>T (p.Asn1202Tyr)
c.3601A>T (p.Asn1201Tyr)
c.3559A>T (p.Asn1187Tyr)
c.3556A>T (p.Asn1186Tyr)
c.2662A>T (p.Asn888Tyr)
2g.50091467T>CCA346819255NRXN1c.3574A>G (p.Asn1192Asp)
n.741A>G
c.461A>G (n.461A>G)
c.469A>G (p.Asn157Asp)
c.3694A>G (p.Asn1232Asp)
c.3538A>G (p.Asn1180Asp)
c.-264A>G (n.-264A>G)
c.3550A>G (p.Asn1184Asp)
n.383A>G
c.3595A>G (p.Asn1199Asp)
c.3592A>G (p.Asn1198Asp)
c.3583A>G (p.Asn1195Asp)
c.3577A>G (p.Asn1193Asp)
c.3568A>G (p.Asn1190Asp)
c.3565A>G (p.Asn1189Asp)
c.3535A>G (p.Asn1179Asp)
c.3505A>G (p.Asn1169Asp)
c.2800A>G (p.Asn934Asp)
c.2755A>G (p.Asn919Asp)
c.2728A>G (p.Asn910Asp)
c.2635A>G (p.Asn879Asp)
c.3508A>G (p.Asn1170Asp)
c.3547A>G (p.Asn1183Asp)
c.3463A>G (p.Asn1155Asp)
c.3493A>G (p.Asn1165Asp)
c.3571A>G (p.Asn1191Asp)
c.3562A>G (p.Asn1188Asp)
c.3523A>G (p.Asn1175Asp)
c.3622A>G (p.Asn1208Asp)
c.3619A>G (p.Asn1207Asp)
c.3610A>G (p.Asn1204Asp)
c.3604A>G (p.Asn1202Asp)
c.3601A>G (p.Asn1201Asp)
c.3559A>G (p.Asn1187Asp)
c.3556A>G (p.Asn1186Asp)
c.2662A>G (p.Asn888Asp)
2g.50091467T>GCA346819256NRXN1c.3574A>C (p.Asn1192His)
n.741A>C
c.461A>C (n.461A>C)
c.469A>C (p.Asn157His)
c.3694A>C (p.Asn1232His)
c.3538A>C (p.Asn1180His)
c.-264A>C (n.-264A>C)
c.3550A>C (p.Asn1184His)
n.383A>C
c.3595A>C (p.Asn1199His)
c.3592A>C (p.Asn1198His)
c.3583A>C (p.Asn1195His)
c.3577A>C (p.Asn1193His)
c.3568A>C (p.Asn1190His)
c.3565A>C (p.Asn1189His)
c.3535A>C (p.Asn1179His)
c.3505A>C (p.Asn1169His)
c.2800A>C (p.Asn934His)
c.2755A>C (p.Asn919His)
c.2728A>C (p.Asn910His)
c.2635A>C (p.Asn879His)
c.3508A>C (p.Asn1170His)
c.3547A>C (p.Asn1183His)
c.3463A>C (p.Asn1155His)
c.3493A>C (p.Asn1165His)
c.3571A>C (p.Asn1191His)
c.3562A>C (p.Asn1188His)
c.3523A>C (p.Asn1175His)
c.3622A>C (p.Asn1208His)
c.3619A>C (p.Asn1207His)
c.3610A>C (p.Asn1204His)
c.3604A>C (p.Asn1202His)
c.3601A>C (p.Asn1201His)
c.3559A>C (p.Asn1187His)
c.3556A>C (p.Asn1186His)
c.2662A>C (p.Asn888His)
2g.50091468A>CCA346819258NRXN1c.3573T>G (p.Phe1191Leu)
n.740T>G
c.460T>G (n.460T>G)
c.468T>G (p.Phe156Leu)
c.3693T>G (p.Phe1231Leu)
c.3537T>G (p.Phe1179Leu)
c.-265T>G (n.-265T>G)
c.3549T>G (p.Phe1183Leu)
n.382T>G
c.3594T>G (p.Phe1198Leu)
c.3591T>G (p.Phe1197Leu)
c.3582T>G (p.Phe1194Leu)
c.3576T>G (p.Phe1192Leu)
c.3567T>G (p.Phe1189Leu)
c.3564T>G (p.Phe1188Leu)
c.3534T>G (p.Phe1178Leu)
c.3504T>G (p.Phe1168Leu)
c.2799T>G (p.Phe933Leu)
c.2754T>G (p.Phe918Leu)
c.2727T>G (p.Phe909Leu)
c.2634T>G (p.Phe878Leu)
c.3507T>G (p.Phe1169Leu)
c.3546T>G (p.Phe1182Leu)
c.3462T>G (p.Phe1154Leu)
c.3492T>G (p.Phe1164Leu)
c.3570T>G (p.Phe1190Leu)
c.3561T>G (p.Phe1187Leu)
c.3522T>G (p.Phe1174Leu)
c.3621T>G (p.Phe1207Leu)
c.3618T>G (p.Phe1206Leu)
c.3609T>G (p.Phe1203Leu)
c.3603T>G (p.Phe1201Leu)
c.3600T>G (p.Phe1200Leu)
c.3558T>G (p.Phe1186Leu)
c.3555T>G (p.Phe1185Leu)
c.2661T>G (p.Phe887Leu)
2g.50091468A>GCA426101674NRXN1c.3573T>C (p.Phe1191=)
n.740T>C
c.460T>C (n.460T>C)
c.468T>C (p.Phe156=)
c.3693T>C (p.Phe1231=)
c.3537T>C (p.Phe1179=)
c.-265T>C (n.-265T>C)
c.3549T>C (p.Phe1183=)
n.382T>C
c.3594T>C (p.Phe1198=)
c.3591T>C (p.Phe1197=)
c.3582T>C (p.Phe1194=)
c.3576T>C (p.Phe1192=)
c.3567T>C (p.Phe1189=)
c.3564T>C (p.Phe1188=)
c.3534T>C (p.Phe1178=)
c.3504T>C (p.Phe1168=)
c.2799T>C (p.Phe933=)
c.2754T>C (p.Phe918=)
c.2727T>C (p.Phe909=)
c.2634T>C (p.Phe878=)
c.3507T>C (p.Phe1169=)
c.3546T>C (p.Phe1182=)
c.3462T>C (p.Phe1154=)
c.3492T>C (p.Phe1164=)
c.3570T>C (p.Phe1190=)
c.3561T>C (p.Phe1187=)
c.3522T>C (p.Phe1174=)
c.3621T>C (p.Phe1207=)
c.3618T>C (p.Phe1206=)
c.3609T>C (p.Phe1203=)
c.3603T>C (p.Phe1201=)
c.3600T>C (p.Phe1200=)
c.3558T>C (p.Phe1186=)
c.3555T>C (p.Phe1185=)
c.2661T>C (p.Phe887=)
2g.50091468A>TCA346819259NRXN1c.3573T>A (p.Phe1191Leu)
n.740T>A
c.460T>A (n.460T>A)
c.468T>A (p.Phe156Leu)
c.3693T>A (p.Phe1231Leu)
c.3537T>A (p.Phe1179Leu)
c.-265T>A (n.-265T>A)
c.3549T>A (p.Phe1183Leu)
n.382T>A
c.3594T>A (p.Phe1198Leu)
c.3591T>A (p.Phe1197Leu)
c.3582T>A (p.Phe1194Leu)
c.3576T>A (p.Phe1192Leu)
c.3567T>A (p.Phe1189Leu)
c.3564T>A (p.Phe1188Leu)
c.3534T>A (p.Phe1178Leu)
c.3504T>A (p.Phe1168Leu)
c.2799T>A (p.Phe933Leu)
c.2754T>A (p.Phe918Leu)
c.2727T>A (p.Phe909Leu)
c.2634T>A (p.Phe878Leu)
c.3507T>A (p.Phe1169Leu)
c.3546T>A (p.Phe1182Leu)
c.3462T>A (p.Phe1154Leu)
c.3492T>A (p.Phe1164Leu)
c.3570T>A (p.Phe1190Leu)
c.3561T>A (p.Phe1187Leu)
c.3522T>A (p.Phe1174Leu)
c.3621T>A (p.Phe1207Leu)
c.3618T>A (p.Phe1206Leu)
c.3609T>A (p.Phe1203Leu)
c.3603T>A (p.Phe1201Leu)
c.3600T>A (p.Phe1200Leu)
c.3558T>A (p.Phe1186Leu)
c.3555T>A (p.Phe1185Leu)
c.2661T>A (p.Phe887Leu)
2g.50091469A>CCA346819260NRXN1c.3572T>G (p.Phe1191Cys)
n.739T>G
c.459T>G (n.459T>G)
c.467T>G (p.Phe156Cys)
c.3692T>G (p.Phe1231Cys)
c.3536T>G (p.Phe1179Cys)
c.-266T>G (n.-266T>G)
c.3548T>G (p.Phe1183Cys)
n.381T>G
c.3593T>G (p.Phe1198Cys)
c.3590T>G (p.Phe1197Cys)
c.3581T>G (p.Phe1194Cys)
c.3575T>G (p.Phe1192Cys)
c.3566T>G (p.Phe1189Cys)
c.3563T>G (p.Phe1188Cys)
c.3533T>G (p.Phe1178Cys)
c.3503T>G (p.Phe1168Cys)
c.2798T>G (p.Phe933Cys)
c.2753T>G (p.Phe918Cys)
c.2726T>G (p.Phe909Cys)
c.2633T>G (p.Phe878Cys)
c.3506T>G (p.Phe1169Cys)
c.3545T>G (p.Phe1182Cys)
c.3461T>G (p.Phe1154Cys)
c.3491T>G (p.Phe1164Cys)
c.3569T>G (p.Phe1190Cys)
c.3560T>G (p.Phe1187Cys)
c.3521T>G (p.Phe1174Cys)
c.3620T>G (p.Phe1207Cys)
c.3617T>G (p.Phe1206Cys)
c.3608T>G (p.Phe1203Cys)
c.3602T>G (p.Phe1201Cys)
c.3599T>G (p.Phe1200Cys)
c.3557T>G (p.Phe1186Cys)
c.3554T>G (p.Phe1185Cys)
c.2660T>G (p.Phe887Cys)
2g.50091469A>GCA346819261NRXN1c.3572T>C (p.Phe1191Ser)
n.739T>C
c.459T>C (n.459T>C)
c.467T>C (p.Phe156Ser)
c.3692T>C (p.Phe1231Ser)
c.3536T>C (p.Phe1179Ser)
c.-266T>C (n.-266T>C)
c.3548T>C (p.Phe1183Ser)
n.381T>C
c.3593T>C (p.Phe1198Ser)
c.3590T>C (p.Phe1197Ser)
c.3581T>C (p.Phe1194Ser)
c.3575T>C (p.Phe1192Ser)
c.3566T>C (p.Phe1189Ser)
c.3563T>C (p.Phe1188Ser)
c.3533T>C (p.Phe1178Ser)
c.3503T>C (p.Phe1168Ser)
c.2798T>C (p.Phe933Ser)
c.2753T>C (p.Phe918Ser)
c.2726T>C (p.Phe909Ser)
c.2633T>C (p.Phe878Ser)
c.3506T>C (p.Phe1169Ser)
c.3545T>C (p.Phe1182Ser)
c.3461T>C (p.Phe1154Ser)
c.3491T>C (p.Phe1164Ser)
c.3569T>C (p.Phe1190Ser)
c.3560T>C (p.Phe1187Ser)
c.3521T>C (p.Phe1174Ser)
c.3620T>C (p.Phe1207Ser)
c.3617T>C (p.Phe1206Ser)
c.3608T>C (p.Phe1203Ser)
c.3602T>C (p.Phe1201Ser)
c.3599T>C (p.Phe1200Ser)
c.3557T>C (p.Phe1186Ser)
c.3554T>C (p.Phe1185Ser)
c.2660T>C (p.Phe887Ser)
2g.50091469A>TCA346819262NRXN1c.3572T>A (p.Phe1191Tyr)
n.739T>A
c.459T>A (n.459T>A)
c.467T>A (p.Phe156Tyr)
c.3692T>A (p.Phe1231Tyr)
c.3536T>A (p.Phe1179Tyr)
c.-266T>A (n.-266T>A)
c.3548T>A (p.Phe1183Tyr)
n.381T>A
c.3593T>A (p.Phe1198Tyr)
c.3590T>A (p.Phe1197Tyr)
c.3581T>A (p.Phe1194Tyr)
c.3575T>A (p.Phe1192Tyr)
c.3566T>A (p.Phe1189Tyr)
c.3563T>A (p.Phe1188Tyr)
c.3533T>A (p.Phe1178Tyr)
c.3503T>A (p.Phe1168Tyr)
c.2798T>A (p.Phe933Tyr)
c.2753T>A (p.Phe918Tyr)
c.2726T>A (p.Phe909Tyr)
c.2633T>A (p.Phe878Tyr)
c.3506T>A (p.Phe1169Tyr)
c.3545T>A (p.Phe1182Tyr)
c.3461T>A (p.Phe1154Tyr)
c.3491T>A (p.Phe1164Tyr)
c.3569T>A (p.Phe1190Tyr)
c.3560T>A (p.Phe1187Tyr)
c.3521T>A (p.Phe1174Tyr)
c.3620T>A (p.Phe1207Tyr)
c.3617T>A (p.Phe1206Tyr)
c.3608T>A (p.Phe1203Tyr)
c.3602T>A (p.Phe1201Tyr)
c.3599T>A (p.Phe1200Tyr)
c.3557T>A (p.Phe1186Tyr)
c.3554T>A (p.Phe1185Tyr)
c.2660T>A (p.Phe887Tyr)
2g.50091470A>CCA346819263NRXN1c.3571T>G (p.Phe1191Val)
n.738T>G
c.458T>G (n.458T>G)
c.466T>G (p.Phe156Val)
c.3691T>G (p.Phe1231Val)
c.3535T>G (p.Phe1179Val)
c.-267T>G (n.-267T>G)
c.3547T>G (p.Phe1183Val)
n.380T>G
c.3592T>G (p.Phe1198Val)
c.3589T>G (p.Phe1197Val)
c.3580T>G (p.Phe1194Val)
c.3574T>G (p.Phe1192Val)
c.3565T>G (p.Phe1189Val)
c.3562T>G (p.Phe1188Val)
c.3532T>G (p.Phe1178Val)
c.3502T>G (p.Phe1168Val)
c.2797T>G (p.Phe933Val)
c.2752T>G (p.Phe918Val)
c.2725T>G (p.Phe909Val)
c.2632T>G (p.Phe878Val)
c.3505T>G (p.Phe1169Val)
c.3544T>G (p.Phe1182Val)
c.3460T>G (p.Phe1154Val)
c.3490T>G (p.Phe1164Val)
c.3568T>G (p.Phe1190Val)
c.3559T>G (p.Phe1187Val)
c.3520T>G (p.Phe1174Val)
c.3619T>G (p.Phe1207Val)
c.3616T>G (p.Phe1206Val)
c.3607T>G (p.Phe1203Val)
c.3601T>G (p.Phe1201Val)
c.3598T>G (p.Phe1200Val)
c.3556T>G (p.Phe1186Val)
c.3553T>G (p.Phe1185Val)
c.2659T>G (p.Phe887Val)
2g.50091470A>GCA346819264NRXN1c.3571T>C (p.Phe1191Leu)
n.738T>C
c.458T>C (n.458T>C)
c.466T>C (p.Phe156Leu)
c.3691T>C (p.Phe1231Leu)
c.3535T>C (p.Phe1179Leu)
c.-267T>C (n.-267T>C)
c.3547T>C (p.Phe1183Leu)
n.380T>C
c.3592T>C (p.Phe1198Leu)
c.3589T>C (p.Phe1197Leu)
c.3580T>C (p.Phe1194Leu)
c.3574T>C (p.Phe1192Leu)
c.3565T>C (p.Phe1189Leu)
c.3562T>C (p.Phe1188Leu)
c.3532T>C (p.Phe1178Leu)
c.3502T>C (p.Phe1168Leu)
c.2797T>C (p.Phe933Leu)
c.2752T>C (p.Phe918Leu)
c.2725T>C (p.Phe909Leu)
c.2632T>C (p.Phe878Leu)
c.3505T>C (p.Phe1169Leu)
c.3544T>C (p.Phe1182Leu)
c.3460T>C (p.Phe1154Leu)
c.3490T>C (p.Phe1164Leu)
c.3568T>C (p.Phe1190Leu)
c.3559T>C (p.Phe1187Leu)
c.3520T>C (p.Phe1174Leu)
c.3619T>C (p.Phe1207Leu)
c.3616T>C (p.Phe1206Leu)
c.3607T>C (p.Phe1203Leu)
c.3601T>C (p.Phe1201Leu)
c.3598T>C (p.Phe1200Leu)
c.3556T>C (p.Phe1186Leu)
c.3553T>C (p.Phe1185Leu)
c.2659T>C (p.Phe887Leu)
2g.50091470A>TCA346819265NRXN1c.3571T>A (p.Phe1191Ile)
n.738T>A
c.458T>A (n.458T>A)
c.466T>A (p.Phe156Ile)
c.3691T>A (p.Phe1231Ile)
c.3535T>A (p.Phe1179Ile)
c.-267T>A (n.-267T>A)
c.3547T>A (p.Phe1183Ile)
n.380T>A
c.3592T>A (p.Phe1198Ile)
c.3589T>A (p.Phe1197Ile)
c.3580T>A (p.Phe1194Ile)
c.3574T>A (p.Phe1192Ile)
c.3565T>A (p.Phe1189Ile)
c.3562T>A (p.Phe1188Ile)
c.3532T>A (p.Phe1178Ile)
c.3502T>A (p.Phe1168Ile)
c.2797T>A (p.Phe933Ile)
c.2752T>A (p.Phe918Ile)
c.2725T>A (p.Phe909Ile)
c.2632T>A (p.Phe878Ile)
c.3505T>A (p.Phe1169Ile)
c.3544T>A (p.Phe1182Ile)
c.3460T>A (p.Phe1154Ile)
c.3490T>A (p.Phe1164Ile)
c.3568T>A (p.Phe1190Ile)
c.3559T>A (p.Phe1187Ile)
c.3520T>A (p.Phe1174Ile)
c.3619T>A (p.Phe1207Ile)
c.3616T>A (p.Phe1206Ile)
c.3607T>A (p.Phe1203Ile)
c.3601T>A (p.Phe1201Ile)
c.3598T>A (p.Phe1200Ile)
c.3556T>A (p.Phe1186Ile)
c.3553T>A (p.Phe1185Ile)
c.2659T>A (p.Phe887Ile)
2g.50091471C>ACA346819266NRXN1c.3570G>T (p.Lys1190Asn)
n.737G>T
c.457G>T (n.457G>T)
c.465G>T (p.Lys155Asn)
c.3690G>T (p.Lys1230Asn)
c.3534G>T (p.Lys1178Asn)
c.-268G>T (n.-268G>T)
c.3546G>T (p.Lys1182Asn)
n.379G>T
c.3591G>T (p.Lys1197Asn)
c.3588G>T (p.Lys1196Asn)
c.3579G>T (p.Lys1193Asn)
c.3573G>T (p.Lys1191Asn)
c.3564G>T (p.Lys1188Asn)
c.3561G>T (p.Lys1187Asn)
c.3531G>T (p.Lys1177Asn)
c.3501G>T (p.Lys1167Asn)
c.2796G>T (p.Lys932Asn)
c.2751G>T (p.Lys917Asn)
c.2724G>T (p.Lys908Asn)
c.2631G>T (p.Lys877Asn)
c.3504G>T (p.Lys1168Asn)
c.3543G>T (p.Lys1181Asn)
c.3459G>T (p.Lys1153Asn)
c.3489G>T (p.Lys1163Asn)
c.3567G>T (p.Lys1189Asn)
c.3558G>T (p.Lys1186Asn)
c.3519G>T (p.Lys1173Asn)
c.3618G>T (p.Lys1206Asn)
c.3615G>T (p.Lys1205Asn)
c.3606G>T (p.Lys1202Asn)
c.3600G>T (p.Lys1200Asn)
c.3597G>T (p.Lys1199Asn)
c.3555G>T (p.Lys1185Asn)
c.3552G>T (p.Lys1184Asn)
c.2658G>T (p.Lys886Asn)
2g.50091471C>GCA346819267NRXN1c.3570G>C (p.Lys1190Asn)
n.737G>C
c.457G>C (n.457G>C)
c.465G>C (p.Lys155Asn)
c.3690G>C (p.Lys1230Asn)
c.3534G>C (p.Lys1178Asn)
c.-268G>C (n.-268G>C)
c.3546G>C (p.Lys1182Asn)
n.379G>C
c.3591G>C (p.Lys1197Asn)
c.3588G>C (p.Lys1196Asn)
c.3579G>C (p.Lys1193Asn)
c.3573G>C (p.Lys1191Asn)
c.3564G>C (p.Lys1188Asn)
c.3561G>C (p.Lys1187Asn)
c.3531G>C (p.Lys1177Asn)
c.3501G>C (p.Lys1167Asn)
c.2796G>C (p.Lys932Asn)
c.2751G>C (p.Lys917Asn)
c.2724G>C (p.Lys908Asn)
c.2631G>C (p.Lys877Asn)
c.3504G>C (p.Lys1168Asn)
c.3543G>C (p.Lys1181Asn)
c.3459G>C (p.Lys1153Asn)
c.3489G>C (p.Lys1163Asn)
c.3567G>C (p.Lys1189Asn)
c.3558G>C (p.Lys1186Asn)
c.3519G>C (p.Lys1173Asn)
c.3618G>C (p.Lys1206Asn)
c.3615G>C (p.Lys1205Asn)
c.3606G>C (p.Lys1202Asn)
c.3600G>C (p.Lys1200Asn)
c.3597G>C (p.Lys1199Asn)
c.3555G>C (p.Lys1185Asn)
c.3552G>C (p.Lys1184Asn)
c.2658G>C (p.Lys886Asn)
2g.50091471C>TCA426101678NRXN1c.3570G>A (p.Lys1190=)
n.737G>A
c.457G>A (n.457G>A)
c.465G>A (p.Lys155=)
c.3690G>A (p.Lys1230=)
c.3534G>A (p.Lys1178=)
c.-268G>A (n.-268G>A)
c.3546G>A (p.Lys1182=)
n.379G>A
c.3591G>A (p.Lys1197=)
c.3588G>A (p.Lys1196=)
c.3579G>A (p.Lys1193=)
c.3573G>A (p.Lys1191=)
c.3564G>A (p.Lys1188=)
c.3561G>A (p.Lys1187=)
c.3531G>A (p.Lys1177=)
c.3501G>A (p.Lys1167=)
c.2796G>A (p.Lys932=)
c.2751G>A (p.Lys917=)
c.2724G>A (p.Lys908=)
c.2631G>A (p.Lys877=)
c.3504G>A (p.Lys1168=)
c.3543G>A (p.Lys1181=)
c.3459G>A (p.Lys1153=)
c.3489G>A (p.Lys1163=)
c.3567G>A (p.Lys1189=)
c.3558G>A (p.Lys1186=)
c.3519G>A (p.Lys1173=)
c.3618G>A (p.Lys1206=)
c.3615G>A (p.Lys1205=)
c.3606G>A (p.Lys1202=)
c.3600G>A (p.Lys1200=)
c.3597G>A (p.Lys1199=)
c.3555G>A (p.Lys1185=)
c.3552G>A (p.Lys1184=)
c.2658G>A (p.Lys886=)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
2g.50091472T>ACA346819268NRXN1c.3569A>T (p.Lys1190Met)
n.736A>T
c.456A>T (n.456A>T)
c.464A>T (p.Lys155Met)
c.3689A>T (p.Lys1230Met)
c.3533A>T (p.Lys1178Met)
c.-269A>T (n.-269A>T)
c.3545A>T (p.Lys1182Met)
n.378A>T
c.3590A>T (p.Lys1197Met)
c.3587A>T (p.Lys1196Met)
c.3578A>T (p.Lys1193Met)
c.3572A>T (p.Lys1191Met)
c.3563A>T (p.Lys1188Met)
c.3560A>T (p.Lys1187Met)
c.3530A>T (p.Lys1177Met)
c.3500A>T (p.Lys1167Met)
c.2795A>T (p.Lys932Met)
c.2750A>T (p.Lys917Met)
c.2723A>T (p.Lys908Met)
c.2630A>T (p.Lys877Met)
c.3503A>T (p.Lys1168Met)
c.3542A>T (p.Lys1181Met)
c.3458A>T (p.Lys1153Met)
c.3488A>T (p.Lys1163Met)
c.3566A>T (p.Lys1189Met)
c.3557A>T (p.Lys1186Met)
c.3518A>T (p.Lys1173Met)
c.3617A>T (p.Lys1206Met)
c.3614A>T (p.Lys1205Met)
c.3605A>T (p.Lys1202Met)
c.3599A>T (p.Lys1200Met)
c.3596A>T (p.Lys1199Met)
c.3554A>T (p.Lys1185Met)
c.3551A>T (p.Lys1184Met)
c.2657A>T (p.Lys886Met)
2g.50091472T>CCA346819269NRXN1c.3569A>G (p.Lys1190Arg)
n.736A>G
c.456A>G (n.456A>G)
c.464A>G (p.Lys155Arg)
c.3689A>G (p.Lys1230Arg)
c.3533A>G (p.Lys1178Arg)
c.-269A>G (n.-269A>G)
c.3545A>G (p.Lys1182Arg)
n.378A>G
c.3590A>G (p.Lys1197Arg)
c.3587A>G (p.Lys1196Arg)
c.3578A>G (p.Lys1193Arg)
c.3572A>G (p.Lys1191Arg)
c.3563A>G (p.Lys1188Arg)
c.3560A>G (p.Lys1187Arg)
c.3530A>G (p.Lys1177Arg)
c.3500A>G (p.Lys1167Arg)
c.2795A>G (p.Lys932Arg)
c.2750A>G (p.Lys917Arg)
c.2723A>G (p.Lys908Arg)
c.2630A>G (p.Lys877Arg)
c.3503A>G (p.Lys1168Arg)
c.3542A>G (p.Lys1181Arg)
c.3458A>G (p.Lys1153Arg)
c.3488A>G (p.Lys1163Arg)
c.3566A>G (p.Lys1189Arg)
c.3557A>G (p.Lys1186Arg)
c.3518A>G (p.Lys1173Arg)
c.3617A>G (p.Lys1206Arg)
c.3614A>G (p.Lys1205Arg)
c.3605A>G (p.Lys1202Arg)
c.3599A>G (p.Lys1200Arg)
c.3596A>G (p.Lys1199Arg)
c.3554A>G (p.Lys1185Arg)
c.3551A>G (p.Lys1184Arg)
c.2657A>G (p.Lys886Arg)
2g.50091472T>GCA346819270NRXN1c.3569A>C (p.Lys1190Thr)
n.736A>C
c.456A>C (n.456A>C)
c.464A>C (p.Lys155Thr)
c.3689A>C (p.Lys1230Thr)
c.3533A>C (p.Lys1178Thr)
c.-269A>C (n.-269A>C)
c.3545A>C (p.Lys1182Thr)
n.378A>C
c.3590A>C (p.Lys1197Thr)
c.3587A>C (p.Lys1196Thr)
c.3578A>C (p.Lys1193Thr)
c.3572A>C (p.Lys1191Thr)
c.3563A>C (p.Lys1188Thr)
c.3560A>C (p.Lys1187Thr)
c.3530A>C (p.Lys1177Thr)
c.3500A>C (p.Lys1167Thr)
c.2795A>C (p.Lys932Thr)
c.2750A>C (p.Lys917Thr)
c.2723A>C (p.Lys908Thr)
c.2630A>C (p.Lys877Thr)
c.3503A>C (p.Lys1168Thr)
c.3542A>C (p.Lys1181Thr)
c.3458A>C (p.Lys1153Thr)
c.3488A>C (p.Lys1163Thr)
c.3566A>C (p.Lys1189Thr)
c.3557A>C (p.Lys1186Thr)
c.3518A>C (p.Lys1173Thr)
c.3617A>C (p.Lys1206Thr)
c.3614A>C (p.Lys1205Thr)
c.3605A>C (p.Lys1202Thr)
c.3599A>C (p.Lys1200Thr)
c.3596A>C (p.Lys1199Thr)
c.3554A>C (p.Lys1185Thr)
c.3551A>C (p.Lys1184Thr)
c.2657A>C (p.Lys886Thr)
COSMIC COSMIC COSMIC COSMIC
2g.50091473T>ACA346819273NRXN1c.3568A>T (p.Lys1190Ter)
n.735A>T
c.455A>T (n.455A>T)
c.463A>T (p.Lys155Ter)
c.3688A>T (p.Lys1230Ter)
c.3532A>T (p.Lys1178Ter)
c.-270A>T (n.-270A>T)
c.3544A>T (p.Lys1182Ter)
n.377A>T
c.3589A>T (p.Lys1197Ter)
c.3586A>T (p.Lys1196Ter)
c.3577A>T (p.Lys1193Ter)
c.3571A>T (p.Lys1191Ter)
c.3562A>T (p.Lys1188Ter)
c.3559A>T (p.Lys1187Ter)
c.3529A>T (p.Lys1177Ter)
c.3499A>T (p.Lys1167Ter)
c.2794A>T (p.Lys932Ter)
c.2749A>T (p.Lys917Ter)
c.2722A>T (p.Lys908Ter)
c.2629A>T (p.Lys877Ter)
c.3502A>T (p.Lys1168Ter)
c.3541A>T (p.Lys1181Ter)
c.3457A>T (p.Lys1153Ter)
c.3487A>T (p.Lys1163Ter)
c.3565A>T (p.Lys1189Ter)
c.3556A>T (p.Lys1186Ter)
c.3517A>T (p.Lys1173Ter)
c.3616A>T (p.Lys1206Ter)
c.3613A>T (p.Lys1205Ter)
c.3604A>T (p.Lys1202Ter)
c.3598A>T (p.Lys1200Ter)
c.3595A>T (p.Lys1199Ter)
c.3553A>T (p.Lys1185Ter)
c.3550A>T (p.Lys1184Ter)
c.2656A>T (p.Lys886Ter)
2g.50091473T>CCA346819271NRXN1c.3568A>G (p.Lys1190Glu)
n.735A>G
c.455A>G (n.455A>G)
c.463A>G (p.Lys155Glu)
c.3688A>G (p.Lys1230Glu)
c.3532A>G (p.Lys1178Glu)
c.-270A>G (n.-270A>G)
c.3544A>G (p.Lys1182Glu)
n.377A>G
c.3589A>G (p.Lys1197Glu)
c.3586A>G (p.Lys1196Glu)
c.3577A>G (p.Lys1193Glu)
c.3571A>G (p.Lys1191Glu)
c.3562A>G (p.Lys1188Glu)
c.3559A>G (p.Lys1187Glu)
c.3529A>G (p.Lys1177Glu)
c.3499A>G (p.Lys1167Glu)
c.2794A>G (p.Lys932Glu)
c.2749A>G (p.Lys917Glu)
c.2722A>G (p.Lys908Glu)
c.2629A>G (p.Lys877Glu)
c.3502A>G (p.Lys1168Glu)
c.3541A>G (p.Lys1181Glu)
c.3457A>G (p.Lys1153Glu)
c.3487A>G (p.Lys1163Glu)
c.3565A>G (p.Lys1189Glu)
c.3556A>G (p.Lys1186Glu)
c.3517A>G (p.Lys1173Glu)
c.3616A>G (p.Lys1206Glu)
c.3613A>G (p.Lys1205Glu)
c.3604A>G (p.Lys1202Glu)
c.3598A>G (p.Lys1200Glu)
c.3595A>G (p.Lys1199Glu)
c.3553A>G (p.Lys1185Glu)
c.3550A>G (p.Lys1184Glu)
c.2656A>G (p.Lys886Glu)
2g.50091473T>GCA346819272NRXN1c.3568A>C (p.Lys1190Gln)
n.735A>C
c.455A>C (n.455A>C)
c.463A>C (p.Lys155Gln)
c.3688A>C (p.Lys1230Gln)
c.3532A>C (p.Lys1178Gln)
c.-270A>C (n.-270A>C)
c.3544A>C (p.Lys1182Gln)
n.377A>C
c.3589A>C (p.Lys1197Gln)
c.3586A>C (p.Lys1196Gln)
c.3577A>C (p.Lys1193Gln)
c.3571A>C (p.Lys1191Gln)
c.3562A>C (p.Lys1188Gln)
c.3559A>C (p.Lys1187Gln)
c.3529A>C (p.Lys1177Gln)
c.3499A>C (p.Lys1167Gln)
c.2794A>C (p.Lys932Gln)
c.2749A>C (p.Lys917Gln)
c.2722A>C (p.Lys908Gln)
c.2629A>C (p.Lys877Gln)
c.3502A>C (p.Lys1168Gln)
c.3541A>C (p.Lys1181Gln)
c.3457A>C (p.Lys1153Gln)
c.3487A>C (p.Lys1163Gln)
c.3565A>C (p.Lys1189Gln)
c.3556A>C (p.Lys1186Gln)
c.3517A>C (p.Lys1173Gln)
c.3616A>C (p.Lys1206Gln)
c.3613A>C (p.Lys1205Gln)
c.3604A>C (p.Lys1202Gln)
c.3598A>C (p.Lys1200Gln)
c.3595A>C (p.Lys1199Gln)
c.3553A>C (p.Lys1185Gln)
c.3550A>C (p.Lys1184Gln)
c.2656A>C (p.Lys886Gln)
gnomAD v4
2g.50091474A=CA1249373461NRXN1c.3567T= (p.Val1189=)
n.734T=
c.454T= (n.454T=)
c.462T= (p.Val154=)
c.3687T= (p.Val1229=)
c.3531T= (p.Val1177=)
c.-271T= (n.-271T=)
c.3543T= (p.Val1181=)
n.376T=
c.3588T= (p.Val1196=)
c.3585T= (p.Val1195=)
c.3576T= (p.Val1192=)
c.3570T= (p.Val1190=)
c.3561T= (p.Val1187=)
c.3558T= (p.Val1186=)
c.3528T= (p.Val1176=)
c.3498T= (p.Val1166=)
c.2793T= (p.Val931=)
c.2748T= (p.Val916=)
c.2721T= (p.Val907=)
c.2628T= (p.Val876=)
c.3501T= (p.Val1167=)
c.3540T= (p.Val1180=)
c.3456T= (p.Val1152=)
c.3486T= (p.Val1162=)
c.3564T= (p.Val1188=)
c.3555T= (p.Val1185=)
c.3516T= (p.Val1172=)
c.3615T= (p.Val1205=)
c.3612T= (p.Val1204=)
c.3603T= (p.Val1201=)
c.3597T= (p.Val1199=)
c.3594T= (p.Val1198=)
c.3552T= (p.Val1184=)
c.3549T= (p.Val1183=)
c.2655T= (p.Val885=)
2g.50091474A>CCA1654415NRXN1c.3567T>G (p.Val1189=)
n.734T>G
c.454T>G (n.454T>G)
c.462T>G (p.Val154=)
c.3687T>G (p.Val1229=)
c.3531T>G (p.Val1177=)
c.-271T>G (n.-271T>G)
c.3543T>G (p.Val1181=)
n.376T>G
c.3588T>G (p.Val1196=)
c.3585T>G (p.Val1195=)
c.3576T>G (p.Val1192=)
c.3570T>G (p.Val1190=)
c.3561T>G (p.Val1187=)
c.3558T>G (p.Val1186=)
c.3528T>G (p.Val1176=)
c.3498T>G (p.Val1166=)
c.2793T>G (p.Val931=)
c.2748T>G (p.Val916=)
c.2721T>G (p.Val907=)
c.2628T>G (p.Val876=)
c.3501T>G (p.Val1167=)
c.3540T>G (p.Val1180=)
c.3456T>G (p.Val1152=)
c.3486T>G (p.Val1162=)
c.3564T>G (p.Val1188=)
c.3555T>G (p.Val1185=)
c.3516T>G (p.Val1172=)
c.3615T>G (p.Val1205=)
c.3612T>G (p.Val1204=)
c.3603T>G (p.Val1201=)
c.3597T>G (p.Val1199=)
c.3594T>G (p.Val1198=)
c.3552T>G (p.Val1184=)
c.3549T>G (p.Val1183=)
c.2655T>G (p.Val885=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.50091474A>GCA426101680NRXN1c.3567T>C (p.Val1189=)
n.734T>C
c.454T>C (n.454T>C)
c.462T>C (p.Val154=)
c.3687T>C (p.Val1229=)
c.3531T>C (p.Val1177=)
c.-271T>C (n.-271T>C)
c.3543T>C (p.Val1181=)
n.376T>C
c.3588T>C (p.Val1196=)
c.3585T>C (p.Val1195=)
c.3576T>C (p.Val1192=)
c.3570T>C (p.Val1190=)
c.3561T>C (p.Val1187=)
c.3558T>C (p.Val1186=)
c.3528T>C (p.Val1176=)
c.3498T>C (p.Val1166=)
c.2793T>C (p.Val931=)
c.2748T>C (p.Val916=)
c.2721T>C (p.Val907=)
c.2628T>C (p.Val876=)
c.3501T>C (p.Val1167=)
c.3540T>C (p.Val1180=)
c.3456T>C (p.Val1152=)
c.3486T>C (p.Val1162=)
c.3564T>C (p.Val1188=)
c.3555T>C (p.Val1185=)
c.3516T>C (p.Val1172=)
c.3615T>C (p.Val1205=)
c.3612T>C (p.Val1204=)
c.3603T>C (p.Val1201=)
c.3597T>C (p.Val1199=)
c.3594T>C (p.Val1198=)
c.3552T>C (p.Val1184=)
c.3549T>C (p.Val1183=)
c.2655T>C (p.Val885=)
2g.50091474A>TCA426101681NRXN1c.3567T>A (p.Val1189=)
n.734T>A
c.454T>A (n.454T>A)
c.462T>A (p.Val154=)
c.3687T>A (p.Val1229=)
c.3531T>A (p.Val1177=)
c.-271T>A (n.-271T>A)
c.3543T>A (p.Val1181=)
n.376T>A
c.3588T>A (p.Val1196=)
c.3585T>A (p.Val1195=)
c.3576T>A (p.Val1192=)
c.3570T>A (p.Val1190=)
c.3561T>A (p.Val1187=)
c.3558T>A (p.Val1186=)
c.3528T>A (p.Val1176=)
c.3498T>A (p.Val1166=)
c.2793T>A (p.Val931=)
c.2748T>A (p.Val916=)
c.2721T>A (p.Val907=)
c.2628T>A (p.Val876=)
c.3501T>A (p.Val1167=)
c.3540T>A (p.Val1180=)
c.3456T>A (p.Val1152=)
c.3486T>A (p.Val1162=)
c.3564T>A (p.Val1188=)
c.3555T>A (p.Val1185=)
c.3516T>A (p.Val1172=)
c.3615T>A (p.Val1205=)
c.3612T>A (p.Val1204=)
c.3603T>A (p.Val1201=)
c.3597T>A (p.Val1199=)
c.3594T>A (p.Val1198=)
c.3552T>A (p.Val1184=)
c.3549T>A (p.Val1183=)
c.2655T>A (p.Val885=)
2g.50091475A>CCA346819274NRXN1c.3566T>G (p.Val1189Gly)
n.733T>G
c.453T>G (n.453T>G)
c.461T>G (p.Val154Gly)
c.3686T>G (p.Val1229Gly)
c.3530T>G (p.Val1177Gly)
c.-272T>G (n.-272T>G)
c.3542T>G (p.Val1181Gly)
n.375T>G
c.3587T>G (p.Val1196Gly)
c.3584T>G (p.Val1195Gly)
c.3575T>G (p.Val1192Gly)
c.3569T>G (p.Val1190Gly)
c.3560T>G (p.Val1187Gly)
c.3557T>G (p.Val1186Gly)
c.3527T>G (p.Val1176Gly)
c.3497T>G (p.Val1166Gly)
c.2792T>G (p.Val931Gly)
c.2747T>G (p.Val916Gly)
c.2720T>G (p.Val907Gly)
c.2627T>G (p.Val876Gly)
c.3500T>G (p.Val1167Gly)
c.3539T>G (p.Val1180Gly)
c.3455T>G (p.Val1152Gly)
c.3485T>G (p.Val1162Gly)
c.3563T>G (p.Val1188Gly)
c.3554T>G (p.Val1185Gly)
c.3515T>G (p.Val1172Gly)
c.3614T>G (p.Val1205Gly)
c.3611T>G (p.Val1204Gly)
c.3602T>G (p.Val1201Gly)
c.3596T>G (p.Val1199Gly)
c.3593T>G (p.Val1198Gly)
c.3551T>G (p.Val1184Gly)
c.3548T>G (p.Val1183Gly)
c.2654T>G (p.Val885Gly)
2g.50091475A>GCA346819275NRXN1c.3566T>C (p.Val1189Ala)
n.733T>C
c.453T>C (n.453T>C)
c.461T>C (p.Val154Ala)
c.3686T>C (p.Val1229Ala)
c.3530T>C (p.Val1177Ala)
c.-272T>C (n.-272T>C)
c.3542T>C (p.Val1181Ala)
n.375T>C
c.3587T>C (p.Val1196Ala)
c.3584T>C (p.Val1195Ala)
c.3575T>C (p.Val1192Ala)
c.3569T>C (p.Val1190Ala)
c.3560T>C (p.Val1187Ala)
c.3557T>C (p.Val1186Ala)
c.3527T>C (p.Val1176Ala)
c.3497T>C (p.Val1166Ala)
c.2792T>C (p.Val931Ala)
c.2747T>C (p.Val916Ala)
c.2720T>C (p.Val907Ala)
c.2627T>C (p.Val876Ala)
c.3500T>C (p.Val1167Ala)
c.3539T>C (p.Val1180Ala)
c.3455T>C (p.Val1152Ala)
c.3485T>C (p.Val1162Ala)
c.3563T>C (p.Val1188Ala)
c.3554T>C (p.Val1185Ala)
c.3515T>C (p.Val1172Ala)
c.3614T>C (p.Val1205Ala)
c.3611T>C (p.Val1204Ala)
c.3602T>C (p.Val1201Ala)
c.3596T>C (p.Val1199Ala)
c.3593T>C (p.Val1198Ala)
c.3551T>C (p.Val1184Ala)
c.3548T>C (p.Val1183Ala)
c.2654T>C (p.Val885Ala)
2g.50091475A>TCA346819276NRXN1c.3566T>A (p.Val1189Asp)
n.733T>A
c.453T>A (n.453T>A)
c.461T>A (p.Val154Asp)
c.3686T>A (p.Val1229Asp)
c.3530T>A (p.Val1177Asp)
c.-272T>A (n.-272T>A)
c.3542T>A (p.Val1181Asp)
n.375T>A
c.3587T>A (p.Val1196Asp)
c.3584T>A (p.Val1195Asp)
c.3575T>A (p.Val1192Asp)
c.3569T>A (p.Val1190Asp)
c.3560T>A (p.Val1187Asp)
c.3557T>A (p.Val1186Asp)
c.3527T>A (p.Val1176Asp)
c.3497T>A (p.Val1166Asp)
c.2792T>A (p.Val931Asp)
c.2747T>A (p.Val916Asp)
c.2720T>A (p.Val907Asp)
c.2627T>A (p.Val876Asp)
c.3500T>A (p.Val1167Asp)
c.3539T>A (p.Val1180Asp)
c.3455T>A (p.Val1152Asp)
c.3485T>A (p.Val1162Asp)
c.3563T>A (p.Val1188Asp)
c.3554T>A (p.Val1185Asp)
c.3515T>A (p.Val1172Asp)
c.3614T>A (p.Val1205Asp)
c.3611T>A (p.Val1204Asp)
c.3602T>A (p.Val1201Asp)
c.3596T>A (p.Val1199Asp)
c.3593T>A (p.Val1198Asp)
c.3551T>A (p.Val1184Asp)
c.3548T>A (p.Val1183Asp)
c.2654T>A (p.Val885Asp)
2g.50091476C>ACA346819277NRXN1c.3565G>T (p.Val1189Phe)
n.732G>T
c.452G>T (n.452G>T)
c.460G>T (p.Val154Phe)
c.3685G>T (p.Val1229Phe)
c.3529G>T (p.Val1177Phe)
c.-273G>T (n.-273G>T)
c.3541G>T (p.Val1181Phe)
n.374G>T
c.3586G>T (p.Val1196Phe)
c.3583G>T (p.Val1195Phe)
c.3574G>T (p.Val1192Phe)
c.3568G>T (p.Val1190Phe)
c.3559G>T (p.Val1187Phe)
c.3556G>T (p.Val1186Phe)
c.3526G>T (p.Val1176Phe)
c.3496G>T (p.Val1166Phe)
c.2791G>T (p.Val931Phe)
c.2746G>T (p.Val916Phe)
c.2719G>T (p.Val907Phe)
c.2626G>T (p.Val876Phe)
c.3499G>T (p.Val1167Phe)
c.3538G>T (p.Val1180Phe)
c.3454G>T (p.Val1152Phe)
c.3484G>T (p.Val1162Phe)
c.3562G>T (p.Val1188Phe)
c.3553G>T (p.Val1185Phe)
c.3514G>T (p.Val1172Phe)
c.3613G>T (p.Val1205Phe)
c.3610G>T (p.Val1204Phe)
c.3601G>T (p.Val1201Phe)
c.3595G>T (p.Val1199Phe)
c.3592G>T (p.Val1198Phe)
c.3550G>T (p.Val1184Phe)
c.3547G>T (p.Val1183Phe)
c.2653G>T (p.Val885Phe)
2g.50091476C=CA1249373462NRXN1c.3565G= (p.Val1189=)
n.732G=
c.452G= (n.452G=)
c.460G= (p.Val154=)
c.3685G= (p.Val1229=)
c.3529G= (p.Val1177=)
c.-273G= (n.-273G=)
c.3541G= (p.Val1181=)
n.374G=
c.3586G= (p.Val1196=)
c.3583G= (p.Val1195=)
c.3574G= (p.Val1192=)
c.3568G= (p.Val1190=)
c.3559G= (p.Val1187=)
c.3556G= (p.Val1186=)
c.3526G= (p.Val1176=)
c.3496G= (p.Val1166=)
c.2791G= (p.Val931=)
c.2746G= (p.Val916=)
c.2719G= (p.Val907=)
c.2626G= (p.Val876=)
c.3499G= (p.Val1167=)
c.3538G= (p.Val1180=)
c.3454G= (p.Val1152=)
c.3484G= (p.Val1162=)
c.3562G= (p.Val1188=)
c.3553G= (p.Val1185=)
c.3514G= (p.Val1172=)
c.3613G= (p.Val1205=)
c.3610G= (p.Val1204=)
c.3601G= (p.Val1201=)
c.3595G= (p.Val1199=)
c.3592G= (p.Val1198=)
c.3550G= (p.Val1184=)
c.3547G= (p.Val1183=)
c.2653G= (p.Val885=)
2g.50091476C>GCA346819278NRXN1c.3565G>C (p.Val1189Leu)
n.732G>C
c.452G>C (n.452G>C)
c.460G>C (p.Val154Leu)
c.3685G>C (p.Val1229Leu)
c.3529G>C (p.Val1177Leu)
c.-273G>C (n.-273G>C)
c.3541G>C (p.Val1181Leu)
n.374G>C
c.3586G>C (p.Val1196Leu)
c.3583G>C (p.Val1195Leu)
c.3574G>C (p.Val1192Leu)
c.3568G>C (p.Val1190Leu)
c.3559G>C (p.Val1187Leu)
c.3556G>C (p.Val1186Leu)
c.3526G>C (p.Val1176Leu)
c.3496G>C (p.Val1166Leu)
c.2791G>C (p.Val931Leu)
c.2746G>C (p.Val916Leu)
c.2719G>C (p.Val907Leu)
c.2626G>C (p.Val876Leu)
c.3499G>C (p.Val1167Leu)
c.3538G>C (p.Val1180Leu)
c.3454G>C (p.Val1152Leu)
c.3484G>C (p.Val1162Leu)
c.3562G>C (p.Val1188Leu)
c.3553G>C (p.Val1185Leu)
c.3514G>C (p.Val1172Leu)
c.3613G>C (p.Val1205Leu)
c.3610G>C (p.Val1204Leu)
c.3601G>C (p.Val1201Leu)
c.3595G>C (p.Val1199Leu)
c.3592G>C (p.Val1198Leu)
c.3550G>C (p.Val1184Leu)
c.3547G>C (p.Val1183Leu)
c.2653G>C (p.Val885Leu)
2g.50091476C>TCA346819279NRXN1c.3565G>A (p.Val1189Ile)
n.732G>A
c.452G>A (n.452G>A)
c.460G>A (p.Val154Ile)
c.3685G>A (p.Val1229Ile)
c.3529G>A (p.Val1177Ile)
c.-273G>A (n.-273G>A)
c.3541G>A (p.Val1181Ile)
n.374G>A
c.3586G>A (p.Val1196Ile)
c.3583G>A (p.Val1195Ile)
c.3574G>A (p.Val1192Ile)
c.3568G>A (p.Val1190Ile)
c.3559G>A (p.Val1187Ile)
c.3556G>A (p.Val1186Ile)
c.3526G>A (p.Val1176Ile)
c.3496G>A (p.Val1166Ile)
c.2791G>A (p.Val931Ile)
c.2746G>A (p.Val916Ile)
c.2719G>A (p.Val907Ile)
c.2626G>A (p.Val876Ile)
c.3499G>A (p.Val1167Ile)
c.3538G>A (p.Val1180Ile)
c.3454G>A (p.Val1152Ile)
c.3484G>A (p.Val1162Ile)
c.3562G>A (p.Val1188Ile)
c.3553G>A (p.Val1185Ile)
c.3514G>A (p.Val1172Ile)
c.3613G>A (p.Val1205Ile)
c.3610G>A (p.Val1204Ile)
c.3601G>A (p.Val1201Ile)
c.3595G>A (p.Val1199Ile)
c.3592G>A (p.Val1198Ile)
c.3550G>A (p.Val1184Ile)
c.3547G>A (p.Val1183Ile)
c.2653G>A (p.Val885Ile)
dbSNP
2g.50091477T>ACA426101683NRXN1c.3564A>T (p.Gly1188=)
n.731A>T
c.451A>T (n.451A>T)
c.459A>T (p.Gly153=)
c.3684A>T (p.Gly1228=)
c.3528A>T (p.Gly1176=)
c.-274A>T (n.-274A>T)
c.3540A>T (p.Gly1180=)
n.373A>T
c.3585A>T (p.Gly1195=)
c.3582A>T (p.Gly1194=)
c.3573A>T (p.Gly1191=)
c.3567A>T (p.Gly1189=)
c.3558A>T (p.Gly1186=)
c.3555A>T (p.Gly1185=)
c.3525A>T (p.Gly1175=)
c.3495A>T (p.Gly1165=)
c.2790A>T (p.Gly930=)
c.2745A>T (p.Gly915=)
c.2718A>T (p.Gly906=)
c.2625A>T (p.Gly875=)
c.3498A>T (p.Gly1166=)
c.3537A>T (p.Gly1179=)
c.3453A>T (p.Gly1151=)
c.3483A>T (p.Gly1161=)
c.3561A>T (p.Gly1187=)
c.3552A>T (p.Gly1184=)
c.3513A>T (p.Gly1171=)
c.3612A>T (p.Gly1204=)
c.3609A>T (p.Gly1203=)
c.3600A>T (p.Gly1200=)
c.3594A>T (p.Gly1198=)
c.3591A>T (p.Gly1197=)
c.3549A>T (p.Gly1183=)
c.3546A>T (p.Gly1182=)
c.2652A>T (p.Gly884=)
2g.50091477T>CCA426101684NRXN1c.3564A>G (p.Gly1188=)
n.731A>G
c.451A>G (n.451A>G)
c.459A>G (p.Gly153=)
c.3684A>G (p.Gly1228=)
c.3528A>G (p.Gly1176=)
c.-274A>G (n.-274A>G)
c.3540A>G (p.Gly1180=)
n.373A>G
c.3585A>G (p.Gly1195=)
c.3582A>G (p.Gly1194=)
c.3573A>G (p.Gly1191=)
c.3567A>G (p.Gly1189=)
c.3558A>G (p.Gly1186=)
c.3555A>G (p.Gly1185=)
c.3525A>G (p.Gly1175=)
c.3495A>G (p.Gly1165=)
c.2790A>G (p.Gly930=)
c.2745A>G (p.Gly915=)
c.2718A>G (p.Gly906=)
c.2625A>G (p.Gly875=)
c.3498A>G (p.Gly1166=)
c.3537A>G (p.Gly1179=)
c.3453A>G (p.Gly1151=)
c.3483A>G (p.Gly1161=)
c.3561A>G (p.Gly1187=)
c.3552A>G (p.Gly1184=)
c.3513A>G (p.Gly1171=)
c.3612A>G (p.Gly1204=)
c.3609A>G (p.Gly1203=)
c.3600A>G (p.Gly1200=)
c.3594A>G (p.Gly1198=)
c.3591A>G (p.Gly1197=)
c.3549A>G (p.Gly1183=)
c.3546A>G (p.Gly1182=)
c.2652A>G (p.Gly884=)
2g.50091477T>GCA426101685NRXN1c.3564A>C (p.Gly1188=)
n.731A>C
c.451A>C (n.451A>C)
c.459A>C (p.Gly153=)
c.3684A>C (p.Gly1228=)
c.3528A>C (p.Gly1176=)
c.-274A>C (n.-274A>C)
c.3540A>C (p.Gly1180=)
n.373A>C
c.3585A>C (p.Gly1195=)
c.3582A>C (p.Gly1194=)
c.3573A>C (p.Gly1191=)
c.3567A>C (p.Gly1189=)
c.3558A>C (p.Gly1186=)
c.3555A>C (p.Gly1185=)
c.3525A>C (p.Gly1175=)
c.3495A>C (p.Gly1165=)
c.2790A>C (p.Gly930=)
c.2745A>C (p.Gly915=)
c.2718A>C (p.Gly906=)
c.2625A>C (p.Gly875=)
c.3498A>C (p.Gly1166=)
c.3537A>C (p.Gly1179=)
c.3453A>C (p.Gly1151=)
c.3483A>C (p.Gly1161=)
c.3561A>C (p.Gly1187=)
c.3552A>C (p.Gly1184=)
c.3513A>C (p.Gly1171=)
c.3612A>C (p.Gly1204=)
c.3609A>C (p.Gly1203=)
c.3600A>C (p.Gly1200=)
c.3594A>C (p.Gly1198=)
c.3591A>C (p.Gly1197=)
c.3549A>C (p.Gly1183=)
c.3546A>C (p.Gly1182=)
c.2652A>C (p.Gly884=)
2g.50091478C>ACA346819280NRXN1c.3563G>T (p.Gly1188Val)
n.730G>T
c.450G>T (n.450G>T)
c.458G>T (p.Gly153Val)
c.3683G>T (p.Gly1228Val)
c.3527G>T (p.Gly1176Val)
c.-275G>T (n.-275G>T)
c.3539G>T (p.Gly1180Val)
n.372G>T
c.3584G>T (p.Gly1195Val)
c.3581G>T (p.Gly1194Val)
c.3572G>T (p.Gly1191Val)
c.3566G>T (p.Gly1189Val)
c.3557G>T (p.Gly1186Val)
c.3554G>T (p.Gly1185Val)
c.3524G>T (p.Gly1175Val)
c.3494G>T (p.Gly1165Val)
c.2789G>T (p.Gly930Val)
c.2744G>T (p.Gly915Val)
c.2717G>T (p.Gly906Val)
c.2624G>T (p.Gly875Val)
c.3497G>T (p.Gly1166Val)
c.3536G>T (p.Gly1179Val)
c.3452G>T (p.Gly1151Val)
c.3482G>T (p.Gly1161Val)
c.3560G>T (p.Gly1187Val)
c.3551G>T (p.Gly1184Val)
c.3512G>T (p.Gly1171Val)
c.3611G>T (p.Gly1204Val)
c.3608G>T (p.Gly1203Val)
c.3599G>T (p.Gly1200Val)
c.3593G>T (p.Gly1198Val)
c.3590G>T (p.Gly1197Val)
c.3548G>T (p.Gly1183Val)
c.3545G>T (p.Gly1182Val)
c.2651G>T (p.Gly884Val)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.50091478C=CA1249373463NRXN1c.3563G= (p.Gly1188=)
n.730G=
c.450G= (n.450G=)
c.458G= (p.Gly153=)
c.3683G= (p.Gly1228=)
c.3527G= (p.Gly1176=)
c.-275G= (n.-275G=)
c.3539G= (p.Gly1180=)
n.372G=
c.3584G= (p.Gly1195=)
c.3581G= (p.Gly1194=)
c.3572G= (p.Gly1191=)
c.3566G= (p.Gly1189=)
c.3557G= (p.Gly1186=)
c.3554G= (p.Gly1185=)
c.3524G= (p.Gly1175=)
c.3494G= (p.Gly1165=)
c.2789G= (p.Gly930=)
c.2744G= (p.Gly915=)
c.2717G= (p.Gly906=)
c.2624G= (p.Gly875=)
c.3497G= (p.Gly1166=)
c.3536G= (p.Gly1179=)
c.3452G= (p.Gly1151=)
c.3482G= (p.Gly1161=)
c.3560G= (p.Gly1187=)
c.3551G= (p.Gly1184=)
c.3512G= (p.Gly1171=)
c.3611G= (p.Gly1204=)
c.3608G= (p.Gly1203=)
c.3599G= (p.Gly1200=)
c.3593G= (p.Gly1198=)
c.3590G= (p.Gly1197=)
c.3548G= (p.Gly1183=)
c.3545G= (p.Gly1182=)
c.2651G= (p.Gly884=)
2g.50091478C>GCA1654416NRXN1c.3563G>C (p.Gly1188Ala)
n.730G>C
c.450G>C (n.450G>C)
c.458G>C (p.Gly153Ala)
c.3683G>C (p.Gly1228Ala)
c.3527G>C (p.Gly1176Ala)
c.-275G>C (n.-275G>C)
c.3539G>C (p.Gly1180Ala)
n.372G>C
c.3584G>C (p.Gly1195Ala)
c.3581G>C (p.Gly1194Ala)
c.3572G>C (p.Gly1191Ala)
c.3566G>C (p.Gly1189Ala)
c.3557G>C (p.Gly1186Ala)
c.3554G>C (p.Gly1185Ala)
c.3524G>C (p.Gly1175Ala)
c.3494G>C (p.Gly1165Ala)
c.2789G>C (p.Gly930Ala)
c.2744G>C (p.Gly915Ala)
c.2717G>C (p.Gly906Ala)
c.2624G>C (p.Gly875Ala)
c.3497G>C (p.Gly1166Ala)
c.3536G>C (p.Gly1179Ala)
c.3452G>C (p.Gly1151Ala)
c.3482G>C (p.Gly1161Ala)
c.3560G>C (p.Gly1187Ala)
c.3551G>C (p.Gly1184Ala)
c.3512G>C (p.Gly1171Ala)
c.3611G>C (p.Gly1204Ala)
c.3608G>C (p.Gly1203Ala)
c.3599G>C (p.Gly1200Ala)
c.3593G>C (p.Gly1198Ala)
c.3590G>C (p.Gly1197Ala)
c.3548G>C (p.Gly1183Ala)
c.3545G>C (p.Gly1182Ala)
c.2651G>C (p.Gly884Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.50091478C>TCA346819281NRXN1c.3563G>A (p.Gly1188Glu)
n.730G>A
c.450G>A (n.450G>A)
c.458G>A (p.Gly153Glu)
c.3683G>A (p.Gly1228Glu)
c.3527G>A (p.Gly1176Glu)
c.-275G>A (n.-275G>A)
c.3539G>A (p.Gly1180Glu)
n.372G>A
c.3584G>A (p.Gly1195Glu)
c.3581G>A (p.Gly1194Glu)
c.3572G>A (p.Gly1191Glu)
c.3566G>A (p.Gly1189Glu)
c.3557G>A (p.Gly1186Glu)
c.3554G>A (p.Gly1185Glu)
c.3524G>A (p.Gly1175Glu)
c.3494G>A (p.Gly1165Glu)
c.2789G>A (p.Gly930Glu)
c.2744G>A (p.Gly915Glu)
c.2717G>A (p.Gly906Glu)
c.2624G>A (p.Gly875Glu)
c.3497G>A (p.Gly1166Glu)
c.3536G>A (p.Gly1179Glu)
c.3452G>A (p.Gly1151Glu)
c.3482G>A (p.Gly1161Glu)
c.3560G>A (p.Gly1187Glu)
c.3551G>A (p.Gly1184Glu)
c.3512G>A (p.Gly1171Glu)
c.3611G>A (p.Gly1204Glu)
c.3608G>A (p.Gly1203Glu)
c.3599G>A (p.Gly1200Glu)
c.3593G>A (p.Gly1198Glu)
c.3590G>A (p.Gly1197Glu)
c.3548G>A (p.Gly1183Glu)
c.3545G>A (p.Gly1182Glu)
c.2651G>A (p.Gly884Glu)
2g.50091478_50091479insACCCAACACA2749871352NRXN1c.3562_3563insTGTTGGGT (p.Gly1188ValfsTer30)
n.729_730insTGTTGGGT
c.449_450insTGTTGGGT (n.449_450insTGTTGGGT)
c.457_458insTGTTGGGT (p.Gly153ValfsTer30)
c.3682_3683insTGTTGGGT (p.Gly1228ValfsTer30)
c.3526_3527insTGTTGGGT (p.Gly1176ValfsTer30)
c.-276_-275insTGTTGGGT (n.-276_-275insTGTTGGGT)
c.3538_3539insTGTTGGGT (p.Gly1180ValfsTer30)
n.371_372insTGTTGGGT
c.3583_3584insTGTTGGGT (p.Gly1195ValfsTer30)
c.3580_3581insTGTTGGGT (p.Gly1194ValfsTer30)
c.3571_3572insTGTTGGGT (p.Gly1191ValfsTer30)
c.3565_3566insTGTTGGGT (p.Gly1189ValfsTer30)
c.3556_3557insTGTTGGGT (p.Gly1186ValfsTer30)
c.3553_3554insTGTTGGGT (p.Gly1185ValfsTer30)
c.3523_3524insTGTTGGGT (p.Gly1175ValfsTer30)
c.3493_3494insTGTTGGGT (p.Gly1165ValfsTer30)
c.2788_2789insTGTTGGGT (p.Gly930ValfsTer30)
c.2743_2744insTGTTGGGT (p.Gly915ValfsTer30)
c.2716_2717insTGTTGGGT (p.Gly906ValfsTer30)
c.2623_2624insTGTTGGGT (p.Gly875ValfsTer30)
c.3496_3497insTGTTGGGT (p.Gly1166ValfsTer30)
c.3535_3536insTGTTGGGT (p.Gly1179ValfsTer30)
c.3451_3452insTGTTGGGT (p.Gly1151ValfsTer30)
c.3481_3482insTGTTGGGT (p.Gly1161ValfsTer30)
c.3559_3560insTGTTGGGT (p.Gly1187ValfsTer30)
c.3550_3551insTGTTGGGT (p.Gly1184ValfsTer30)
c.3511_3512insTGTTGGGT (p.Gly1171ValfsTer30)
c.3610_3611insTGTTGGGT (p.Gly1204ValfsTer30)
c.3607_3608insTGTTGGGT (p.Gly1203ValfsTer30)
c.3598_3599insTGTTGGGT (p.Gly1200ValfsTer30)
c.3592_3593insTGTTGGGT (p.Gly1198ValfsTer30)
c.3589_3590insTGTTGGGT (p.Gly1197ValfsTer30)
c.3547_3548insTGTTGGGT (p.Gly1183ValfsTer30)
c.3544_3545insTGTTGGGT (p.Gly1182ValfsTer30)
c.2650_2651insTGTTGGGT (p.Gly884ValfsTer30)
2g.50091479C>ACA1654417NRXN1c.3562G>T (p.Gly1188Ter)
n.729G>T
c.449G>T (n.449G>T)
c.457G>T (p.Gly153Ter)
c.3682G>T (p.Gly1228Ter)
c.3526G>T (p.Gly1176Ter)
c.-276G>T (n.-276G>T)
c.3538G>T (p.Gly1180Ter)
n.371G>T
c.3583G>T (p.Gly1195Ter)
c.3580G>T (p.Gly1194Ter)
c.3571G>T (p.Gly1191Ter)
c.3565G>T (p.Gly1189Ter)
c.3556G>T (p.Gly1186Ter)
c.3553G>T (p.Gly1185Ter)
c.3523G>T (p.Gly1175Ter)
c.3493G>T (p.Gly1165Ter)
c.2788G>T (p.Gly930Ter)
c.2743G>T (p.Gly915Ter)
c.2716G>T (p.Gly906Ter)
c.2623G>T (p.Gly875Ter)
c.3496G>T (p.Gly1166Ter)
c.3535G>T (p.Gly1179Ter)
c.3451G>T (p.Gly1151Ter)
c.3481G>T (p.Gly1161Ter)
c.3559G>T (p.Gly1187Ter)
c.3550G>T (p.Gly1184Ter)
c.3511G>T (p.Gly1171Ter)
c.3610G>T (p.Gly1204Ter)
c.3607G>T (p.Gly1203Ter)
c.3598G>T (p.Gly1200Ter)
c.3592G>T (p.Gly1198Ter)
c.3589G>T (p.Gly1197Ter)
c.3547G>T (p.Gly1183Ter)
c.3544G>T (p.Gly1182Ter)
c.2650G>T (p.Gly884Ter)
dbSNP ExAC
2g.50091479C=CA1249373464NRXN1c.3562G= (p.Gly1188=)
n.729G=
c.449G= (n.449G=)
c.457G= (p.Gly153=)
c.3682G= (p.Gly1228=)
c.3526G= (p.Gly1176=)
c.-276G= (n.-276G=)
c.3538G= (p.Gly1180=)
n.371G=
c.3583G= (p.Gly1195=)
c.3580G= (p.Gly1194=)
c.3571G= (p.Gly1191=)
c.3565G= (p.Gly1189=)
c.3556G= (p.Gly1186=)
c.3553G= (p.Gly1185=)
c.3523G= (p.Gly1175=)
c.3493G= (p.Gly1165=)
c.2788G= (p.Gly930=)
c.2743G= (p.Gly915=)
c.2716G= (p.Gly906=)
c.2623G= (p.Gly875=)
c.3496G= (p.Gly1166=)
c.3535G= (p.Gly1179=)
c.3451G= (p.Gly1151=)
c.3481G= (p.Gly1161=)
c.3559G= (p.Gly1187=)
c.3550G= (p.Gly1184=)
c.3511G= (p.Gly1171=)
c.3610G= (p.Gly1204=)
c.3607G= (p.Gly1203=)
c.3598G= (p.Gly1200=)
c.3592G= (p.Gly1198=)
c.3589G= (p.Gly1197=)
c.3547G= (p.Gly1183=)
c.3544G= (p.Gly1182=)
c.2650G= (p.Gly884=)
2g.50091479C>GCA346819282NRXN1c.3562G>C (p.Gly1188Arg)
n.729G>C
c.449G>C (n.449G>C)
c.457G>C (p.Gly153Arg)
c.3682G>C (p.Gly1228Arg)
c.3526G>C (p.Gly1176Arg)
c.-276G>C (n.-276G>C)
c.3538G>C (p.Gly1180Arg)
n.371G>C
c.3583G>C (p.Gly1195Arg)
c.3580G>C (p.Gly1194Arg)
c.3571G>C (p.Gly1191Arg)
c.3565G>C (p.Gly1189Arg)
c.3556G>C (p.Gly1186Arg)
c.3553G>C (p.Gly1185Arg)
c.3523G>C (p.Gly1175Arg)
c.3493G>C (p.Gly1165Arg)
c.2788G>C (p.Gly930Arg)
c.2743G>C (p.Gly915Arg)
c.2716G>C (p.Gly906Arg)
c.2623G>C (p.Gly875Arg)
c.3496G>C (p.Gly1166Arg)
c.3535G>C (p.Gly1179Arg)
c.3451G>C (p.Gly1151Arg)
c.3481G>C (p.Gly1161Arg)
c.3559G>C (p.Gly1187Arg)
c.3550G>C (p.Gly1184Arg)
c.3511G>C (p.Gly1171Arg)
c.3610G>C (p.Gly1204Arg)
c.3607G>C (p.Gly1203Arg)
c.3598G>C (p.Gly1200Arg)
c.3592G>C (p.Gly1198Arg)
c.3589G>C (p.Gly1197Arg)
c.3547G>C (p.Gly1183Arg)
c.3544G>C (p.Gly1182Arg)
c.2650G>C (p.Gly884Arg)
2g.50091479C>TCA346819283NRXN1c.3562G>A (p.Gly1188Arg)
n.729G>A
c.449G>A (n.449G>A)
c.457G>A (p.Gly153Arg)
c.3682G>A (p.Gly1228Arg)
c.3526G>A (p.Gly1176Arg)
c.-276G>A (n.-276G>A)
c.3538G>A (p.Gly1180Arg)
n.371G>A
c.3583G>A (p.Gly1195Arg)
c.3580G>A (p.Gly1194Arg)
c.3571G>A (p.Gly1191Arg)
c.3565G>A (p.Gly1189Arg)
c.3556G>A (p.Gly1186Arg)
c.3553G>A (p.Gly1185Arg)
c.3523G>A (p.Gly1175Arg)
c.3493G>A (p.Gly1165Arg)
c.2788G>A (p.Gly930Arg)
c.2743G>A (p.Gly915Arg)
c.2716G>A (p.Gly906Arg)
c.2623G>A (p.Gly875Arg)
c.3496G>A (p.Gly1166Arg)
c.3535G>A (p.Gly1179Arg)
c.3451G>A (p.Gly1151Arg)
c.3481G>A (p.Gly1161Arg)
c.3559G>A (p.Gly1187Arg)
c.3550G>A (p.Gly1184Arg)
c.3511G>A (p.Gly1171Arg)
c.3610G>A (p.Gly1204Arg)
c.3607G>A (p.Gly1203Arg)
c.3598G>A (p.Gly1200Arg)
c.3592G>A (p.Gly1198Arg)
c.3589G>A (p.Gly1197Arg)
c.3547G>A (p.Gly1183Arg)
c.3544G>A (p.Gly1182Arg)
c.2650G>A (p.Gly884Arg)
2g.50091480A>CCA346819284NRXN1c.3561T>G (p.Ile1187Met)
n.728T>G
c.448T>G (n.448T>G)
c.456T>G (p.Ile152Met)
c.3681T>G (p.Ile1227Met)
c.3525T>G (p.Ile1175Met)
c.-277T>G (n.-277T>G)
c.3537T>G (p.Ile1179Met)
n.370T>G
c.3582T>G (p.Ile1194Met)
c.3579T>G (p.Ile1193Met)
c.3570T>G (p.Ile1190Met)
c.3564T>G (p.Ile1188Met)
c.3555T>G (p.Ile1185Met)
c.3552T>G (p.Ile1184Met)
c.3522T>G (p.Ile1174Met)
c.3492T>G (p.Ile1164Met)
c.2787T>G (p.Ile929Met)
c.2742T>G (p.Ile914Met)
c.2715T>G (p.Ile905Met)
c.2622T>G (p.Ile874Met)
c.3495T>G (p.Ile1165Met)
c.3534T>G (p.Ile1178Met)
c.3450T>G (p.Ile1150Met)
c.3480T>G (p.Ile1160Met)
c.3558T>G (p.Ile1186Met)
c.3549T>G (p.Ile1183Met)
c.3510T>G (p.Ile1170Met)
c.3609T>G (p.Ile1203Met)
c.3606T>G (p.Ile1202Met)
c.3597T>G (p.Ile1199Met)
c.3591T>G (p.Ile1197Met)
c.3588T>G (p.Ile1196Met)
c.3546T>G (p.Ile1182Met)
c.3543T>G (p.Ile1181Met)
c.2649T>G (p.Ile883Met)
2g.50091480A>GCA426101687NRXN1c.3561T>C (p.Ile1187=)
n.728T>C
c.448T>C (n.448T>C)
c.456T>C (p.Ile152=)
c.3681T>C (p.Ile1227=)
c.3525T>C (p.Ile1175=)
c.-277T>C (n.-277T>C)
c.3537T>C (p.Ile1179=)
n.370T>C
c.3582T>C (p.Ile1194=)
c.3579T>C (p.Ile1193=)
c.3570T>C (p.Ile1190=)
c.3564T>C (p.Ile1188=)
c.3555T>C (p.Ile1185=)
c.3552T>C (p.Ile1184=)
c.3522T>C (p.Ile1174=)
c.3492T>C (p.Ile1164=)
c.2787T>C (p.Ile929=)
c.2742T>C (p.Ile914=)
c.2715T>C (p.Ile905=)
c.2622T>C (p.Ile874=)
c.3495T>C (p.Ile1165=)
c.3534T>C (p.Ile1178=)
c.3450T>C (p.Ile1150=)
c.3480T>C (p.Ile1160=)
c.3558T>C (p.Ile1186=)
c.3549T>C (p.Ile1183=)
c.3510T>C (p.Ile1170=)
c.3609T>C (p.Ile1203=)
c.3606T>C (p.Ile1202=)
c.3597T>C (p.Ile1199=)
c.3591T>C (p.Ile1197=)
c.3588T>C (p.Ile1196=)
c.3546T>C (p.Ile1182=)
c.3543T>C (p.Ile1181=)
c.2649T>C (p.Ile883=)
2g.50091480A>TCA426101688NRXN1c.3561T>A (p.Ile1187=)
n.728T>A
c.448T>A (n.448T>A)
c.456T>A (p.Ile152=)
c.3681T>A (p.Ile1227=)
c.3525T>A (p.Ile1175=)
c.-277T>A (n.-277T>A)
c.3537T>A (p.Ile1179=)
n.370T>A
c.3582T>A (p.Ile1194=)
c.3579T>A (p.Ile1193=)
c.3570T>A (p.Ile1190=)
c.3564T>A (p.Ile1188=)
c.3555T>A (p.Ile1185=)
c.3552T>A (p.Ile1184=)
c.3522T>A (p.Ile1174=)
c.3492T>A (p.Ile1164=)
c.2787T>A (p.Ile929=)
c.2742T>A (p.Ile914=)
c.2715T>A (p.Ile905=)
c.2622T>A (p.Ile874=)
c.3495T>A (p.Ile1165=)
c.3534T>A (p.Ile1178=)
c.3450T>A (p.Ile1150=)
c.3480T>A (p.Ile1160=)
c.3558T>A (p.Ile1186=)
c.3549T>A (p.Ile1183=)
c.3510T>A (p.Ile1170=)
c.3609T>A (p.Ile1203=)
c.3606T>A (p.Ile1202=)
c.3597T>A (p.Ile1199=)
c.3591T>A (p.Ile1197=)
c.3588T>A (p.Ile1196=)
c.3546T>A (p.Ile1182=)
c.3543T>A (p.Ile1181=)
c.2649T>A (p.Ile883=)
2g.50091481A=CA1249373465NRXN1c.3560T= (p.Ile1187=)
n.727T=
c.447T= (n.447T=)
c.455T= (p.Ile152=)
c.3680T= (p.Ile1227=)
c.3524T= (p.Ile1175=)
c.-278T= (n.-278T=)
c.3536T= (p.Ile1179=)
n.369T=
c.3581T= (p.Ile1194=)
c.3578T= (p.Ile1193=)
c.3569T= (p.Ile1190=)
c.3563T= (p.Ile1188=)
c.3554T= (p.Ile1185=)
c.3551T= (p.Ile1184=)
c.3521T= (p.Ile1174=)
c.3491T= (p.Ile1164=)
c.2786T= (p.Ile929=)
c.2741T= (p.Ile914=)
c.2714T= (p.Ile905=)
c.2621T= (p.Ile874=)
c.3494T= (p.Ile1165=)
c.3533T= (p.Ile1178=)
c.3449T= (p.Ile1150=)
c.3479T= (p.Ile1160=)
c.3557T= (p.Ile1186=)
c.3548T= (p.Ile1183=)
c.3509T= (p.Ile1170=)
c.3608T= (p.Ile1203=)
c.3605T= (p.Ile1202=)
c.3596T= (p.Ile1199=)
c.3590T= (p.Ile1197=)
c.3587T= (p.Ile1196=)
c.3545T= (p.Ile1182=)
c.3542T= (p.Ile1181=)
c.2648T= (p.Ile883=)
2g.50091481A>CCA346819285NRXN1c.3560T>G (p.Ile1187Ser)
n.727T>G
c.447T>G (n.447T>G)
c.455T>G (p.Ile152Ser)
c.3680T>G (p.Ile1227Ser)
c.3524T>G (p.Ile1175Ser)
c.-278T>G (n.-278T>G)
c.3536T>G (p.Ile1179Ser)
n.369T>G
c.3581T>G (p.Ile1194Ser)
c.3578T>G (p.Ile1193Ser)
c.3569T>G (p.Ile1190Ser)
c.3563T>G (p.Ile1188Ser)
c.3554T>G (p.Ile1185Ser)
c.3551T>G (p.Ile1184Ser)
c.3521T>G (p.Ile1174Ser)
c.3491T>G (p.Ile1164Ser)
c.2786T>G (p.Ile929Ser)
c.2741T>G (p.Ile914Ser)
c.2714T>G (p.Ile905Ser)
c.2621T>G (p.Ile874Ser)
c.3494T>G (p.Ile1165Ser)
c.3533T>G (p.Ile1178Ser)
c.3449T>G (p.Ile1150Ser)
c.3479T>G (p.Ile1160Ser)
c.3557T>G (p.Ile1186Ser)
c.3548T>G (p.Ile1183Ser)
c.3509T>G (p.Ile1170Ser)
c.3608T>G (p.Ile1203Ser)
c.3605T>G (p.Ile1202Ser)
c.3596T>G (p.Ile1199Ser)
c.3590T>G (p.Ile1197Ser)
c.3587T>G (p.Ile1196Ser)
c.3545T>G (p.Ile1182Ser)
c.3542T>G (p.Ile1181Ser)
c.2648T>G (p.Ile883Ser)
2g.50091481A>GCA346819287NRXN1c.3560T>C (p.Ile1187Thr)
n.727T>C
c.447T>C (n.447T>C)
c.455T>C (p.Ile152Thr)
c.3680T>C (p.Ile1227Thr)
c.3524T>C (p.Ile1175Thr)
c.-278T>C (n.-278T>C)
c.3536T>C (p.Ile1179Thr)
n.369T>C
c.3581T>C (p.Ile1194Thr)
c.3578T>C (p.Ile1193Thr)
c.3569T>C (p.Ile1190Thr)
c.3563T>C (p.Ile1188Thr)
c.3554T>C (p.Ile1185Thr)
c.3551T>C (p.Ile1184Thr)
c.3521T>C (p.Ile1174Thr)
c.3491T>C (p.Ile1164Thr)
c.2786T>C (p.Ile929Thr)
c.2741T>C (p.Ile914Thr)
c.2714T>C (p.Ile905Thr)
c.2621T>C (p.Ile874Thr)
c.3494T>C (p.Ile1165Thr)
c.3533T>C (p.Ile1178Thr)
c.3449T>C (p.Ile1150Thr)
c.3479T>C (p.Ile1160Thr)
c.3557T>C (p.Ile1186Thr)
c.3548T>C (p.Ile1183Thr)
c.3509T>C (p.Ile1170Thr)
c.3608T>C (p.Ile1203Thr)
c.3605T>C (p.Ile1202Thr)
c.3596T>C (p.Ile1199Thr)
c.3590T>C (p.Ile1197Thr)
c.3587T>C (p.Ile1196Thr)
c.3545T>C (p.Ile1182Thr)
c.3542T>C (p.Ile1181Thr)
c.2648T>C (p.Ile883Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.50091481A>TCA346819286NRXN1c.3560T>A (p.Ile1187Asn)
n.727T>A
c.447T>A (n.447T>A)
c.455T>A (p.Ile152Asn)
c.3680T>A (p.Ile1227Asn)
c.3524T>A (p.Ile1175Asn)
c.-278T>A (n.-278T>A)
c.3536T>A (p.Ile1179Asn)
n.369T>A
c.3581T>A (p.Ile1194Asn)
c.3578T>A (p.Ile1193Asn)
c.3569T>A (p.Ile1190Asn)
c.3563T>A (p.Ile1188Asn)
c.3554T>A (p.Ile1185Asn)
c.3551T>A (p.Ile1184Asn)
c.3521T>A (p.Ile1174Asn)
c.3491T>A (p.Ile1164Asn)
c.2786T>A (p.Ile929Asn)
c.2741T>A (p.Ile914Asn)
c.2714T>A (p.Ile905Asn)
c.2621T>A (p.Ile874Asn)
c.3494T>A (p.Ile1165Asn)
c.3533T>A (p.Ile1178Asn)
c.3449T>A (p.Ile1150Asn)
c.3479T>A (p.Ile1160Asn)
c.3557T>A (p.Ile1186Asn)
c.3548T>A (p.Ile1183Asn)
c.3509T>A (p.Ile1170Asn)
c.3608T>A (p.Ile1203Asn)
c.3605T>A (p.Ile1202Asn)
c.3596T>A (p.Ile1199Asn)
c.3590T>A (p.Ile1197Asn)
c.3587T>A (p.Ile1196Asn)
c.3545T>A (p.Ile1182Asn)
c.3542T>A (p.Ile1181Asn)
c.2648T>A (p.Ile883Asn)
COSMIC COSMIC COSMIC
2g.50091482T>ACA346819288NRXN1c.3559A>T (p.Ile1187Phe)
n.726A>T
c.446A>T (n.446A>T)
c.454A>T (p.Ile152Phe)
c.3679A>T (p.Ile1227Phe)
c.3523A>T (p.Ile1175Phe)
c.-279A>T (n.-279A>T)
c.3535A>T (p.Ile1179Phe)
n.368A>T
c.3580A>T (p.Ile1194Phe)
c.3577A>T (p.Ile1193Phe)
c.3568A>T (p.Ile1190Phe)
c.3562A>T (p.Ile1188Phe)
c.3553A>T (p.Ile1185Phe)
c.3550A>T (p.Ile1184Phe)
c.3520A>T (p.Ile1174Phe)
c.3490A>T (p.Ile1164Phe)
c.2785A>T (p.Ile929Phe)
c.2740A>T (p.Ile914Phe)
c.2713A>T (p.Ile905Phe)
c.2620A>T (p.Ile874Phe)
c.3493A>T (p.Ile1165Phe)
c.3532A>T (p.Ile1178Phe)
c.3448A>T (p.Ile1150Phe)
c.3478A>T (p.Ile1160Phe)
c.3556A>T (p.Ile1186Phe)
c.3547A>T (p.Ile1183Phe)
c.3508A>T (p.Ile1170Phe)
c.3607A>T (p.Ile1203Phe)
c.3604A>T (p.Ile1202Phe)
c.3595A>T (p.Ile1199Phe)
c.3589A>T (p.Ile1197Phe)
c.3586A>T (p.Ile1196Phe)
c.3544A>T (p.Ile1182Phe)
c.3541A>T (p.Ile1181Phe)
c.2647A>T (p.Ile883Phe)
2g.50091482T>CCA1654418NRXN1c.3559A>G (p.Ile1187Val)
n.726A>G
c.446A>G (n.446A>G)
c.454A>G (p.Ile152Val)
c.3679A>G (p.Ile1227Val)
c.3523A>G (p.Ile1175Val)
c.-279A>G (n.-279A>G)
c.3535A>G (p.Ile1179Val)
n.368A>G
c.3580A>G (p.Ile1194Val)
c.3577A>G (p.Ile1193Val)
c.3568A>G (p.Ile1190Val)
c.3562A>G (p.Ile1188Val)
c.3553A>G (p.Ile1185Val)
c.3550A>G (p.Ile1184Val)
c.3520A>G (p.Ile1174Val)
c.3490A>G (p.Ile1164Val)
c.2785A>G (p.Ile929Val)
c.2740A>G (p.Ile914Val)
c.2713A>G (p.Ile905Val)
c.2620A>G (p.Ile874Val)
c.3493A>G (p.Ile1165Val)
c.3532A>G (p.Ile1178Val)
c.3448A>G (p.Ile1150Val)
c.3478A>G (p.Ile1160Val)
c.3556A>G (p.Ile1186Val)
c.3547A>G (p.Ile1183Val)
c.3508A>G (p.Ile1170Val)
c.3607A>G (p.Ile1203Val)
c.3604A>G (p.Ile1202Val)
c.3595A>G (p.Ile1199Val)
c.3589A>G (p.Ile1197Val)
c.3586A>G (p.Ile1196Val)
c.3544A>G (p.Ile1182Val)
c.3541A>G (p.Ile1181Val)
c.2647A>G (p.Ile883Val)
dbSNP ExAC gnomAD v3 gnomAD v4
2g.50091482T>GCA346819289NRXN1c.3559A>C (p.Ile1187Leu)
n.726A>C
c.446A>C (n.446A>C)
c.454A>C (p.Ile152Leu)
c.3679A>C (p.Ile1227Leu)
c.3523A>C (p.Ile1175Leu)
c.-279A>C (n.-279A>C)
c.3535A>C (p.Ile1179Leu)
n.368A>C
c.3580A>C (p.Ile1194Leu)
c.3577A>C (p.Ile1193Leu)
c.3568A>C (p.Ile1190Leu)
c.3562A>C (p.Ile1188Leu)
c.3553A>C (p.Ile1185Leu)
c.3550A>C (p.Ile1184Leu)
c.3520A>C (p.Ile1174Leu)
c.3490A>C (p.Ile1164Leu)
c.2785A>C (p.Ile929Leu)
c.2740A>C (p.Ile914Leu)
c.2713A>C (p.Ile905Leu)
c.2620A>C (p.Ile874Leu)
c.3493A>C (p.Ile1165Leu)
c.3532A>C (p.Ile1178Leu)
c.3448A>C (p.Ile1150Leu)
c.3478A>C (p.Ile1160Leu)
c.3556A>C (p.Ile1186Leu)
c.3547A>C (p.Ile1183Leu)
c.3508A>C (p.Ile1170Leu)
c.3607A>C (p.Ile1203Leu)
c.3604A>C (p.Ile1202Leu)
c.3595A>C (p.Ile1199Leu)
c.3589A>C (p.Ile1197Leu)
c.3586A>C (p.Ile1196Leu)
c.3544A>C (p.Ile1182Leu)
c.3541A>C (p.Ile1181Leu)
c.2647A>C (p.Ile883Leu)
2g.50091482T=CA1249373466NRXN1c.3559A= (p.Ile1187=)
n.726A=
c.446A= (n.446A=)
c.454A= (p.Ile152=)
c.3679A= (p.Ile1227=)
c.3523A= (p.Ile1175=)
c.-279A= (n.-279A=)
c.3535A= (p.Ile1179=)
n.368A=
c.3580A= (p.Ile1194=)
c.3577A= (p.Ile1193=)
c.3568A= (p.Ile1190=)
c.3562A= (p.Ile1188=)
c.3553A= (p.Ile1185=)
c.3550A= (p.Ile1184=)
c.3520A= (p.Ile1174=)
c.3490A= (p.Ile1164=)
c.2785A= (p.Ile929=)
c.2740A= (p.Ile914=)
c.2713A= (p.Ile905=)
c.2620A= (p.Ile874=)
c.3493A= (p.Ile1165=)
c.3532A= (p.Ile1178=)
c.3448A= (p.Ile1150=)
c.3478A= (p.Ile1160=)
c.3556A= (p.Ile1186=)
c.3547A= (p.Ile1183=)
c.3508A= (p.Ile1170=)
c.3607A= (p.Ile1203=)
c.3604A= (p.Ile1202=)
c.3595A= (p.Ile1199=)
c.3589A= (p.Ile1197=)
c.3586A= (p.Ile1196=)
c.3544A= (p.Ile1182=)
c.3541A= (p.Ile1181=)
c.2647A= (p.Ile883=)
2g.50091483T>ACA346819290NRXN1c.3558A>T (p.Lys1186Asn)
n.725A>T
c.445A>T (n.445A>T)
c.453A>T (p.Lys151Asn)
c.3678A>T (p.Lys1226Asn)
c.3522A>T (p.Lys1174Asn)
c.-280A>T (n.-280A>T)
c.3534A>T (p.Lys1178Asn)
n.367A>T
c.3579A>T (p.Lys1193Asn)
c.3576A>T (p.Lys1192Asn)
c.3567A>T (p.Lys1189Asn)
c.3561A>T (p.Lys1187Asn)
c.3552A>T (p.Lys1184Asn)
c.3549A>T (p.Lys1183Asn)
c.3519A>T (p.Lys1173Asn)
c.3489A>T (p.Lys1163Asn)
c.2784A>T (p.Lys928Asn)
c.2739A>T (p.Lys913Asn)
c.2712A>T (p.Lys904Asn)
c.2619A>T (p.Lys873Asn)
c.3492A>T (p.Lys1164Asn)
c.3531A>T (p.Lys1177Asn)
c.3447A>T (p.Lys1149Asn)
c.3477A>T (p.Lys1159Asn)
c.3555A>T (p.Lys1185Asn)
c.3546A>T (p.Lys1182Asn)
c.3507A>T (p.Lys1169Asn)
c.3606A>T (p.Lys1202Asn)
c.3603A>T (p.Lys1201Asn)
c.3594A>T (p.Lys1198Asn)
c.3588A>T (p.Lys1196Asn)
c.3585A>T (p.Lys1195Asn)
c.3543A>T (p.Lys1181Asn)
c.3540A>T (p.Lys1180Asn)
c.2646A>T (p.Lys882Asn)
2g.50091483T>CCA426101693NRXN1c.3558A>G (p.Lys1186=)
n.725A>G
c.445A>G (n.445A>G)
c.453A>G (p.Lys151=)
c.3678A>G (p.Lys1226=)
c.3522A>G (p.Lys1174=)
c.-280A>G (n.-280A>G)
c.3534A>G (p.Lys1178=)
n.367A>G
c.3579A>G (p.Lys1193=)
c.3576A>G (p.Lys1192=)
c.3567A>G (p.Lys1189=)
c.3561A>G (p.Lys1187=)
c.3552A>G (p.Lys1184=)
c.3549A>G (p.Lys1183=)
c.3519A>G (p.Lys1173=)
c.3489A>G (p.Lys1163=)
c.2784A>G (p.Lys928=)
c.2739A>G (p.Lys913=)
c.2712A>G (p.Lys904=)
c.2619A>G (p.Lys873=)
c.3492A>G (p.Lys1164=)
c.3531A>G (p.Lys1177=)
c.3447A>G (p.Lys1149=)
c.3477A>G (p.Lys1159=)
c.3555A>G (p.Lys1185=)
c.3546A>G (p.Lys1182=)
c.3507A>G (p.Lys1169=)
c.3606A>G (p.Lys1202=)
c.3603A>G (p.Lys1201=)
c.3594A>G (p.Lys1198=)
c.3588A>G (p.Lys1196=)
c.3585A>G (p.Lys1195=)
c.3543A>G (p.Lys1181=)
c.3540A>G (p.Lys1180=)
c.2646A>G (p.Lys882=)
gnomAD v4
2g.50091483T>GCA346819291NRXN1c.3558A>C (p.Lys1186Asn)
n.725A>C
c.445A>C (n.445A>C)
c.453A>C (p.Lys151Asn)
c.3678A>C (p.Lys1226Asn)
c.3522A>C (p.Lys1174Asn)
c.-280A>C (n.-280A>C)
c.3534A>C (p.Lys1178Asn)
n.367A>C
c.3579A>C (p.Lys1193Asn)
c.3576A>C (p.Lys1192Asn)
c.3567A>C (p.Lys1189Asn)
c.3561A>C (p.Lys1187Asn)
c.3552A>C (p.Lys1184Asn)
c.3549A>C (p.Lys1183Asn)
c.3519A>C (p.Lys1173Asn)
c.3489A>C (p.Lys1163Asn)
c.2784A>C (p.Lys928Asn)
c.2739A>C (p.Lys913Asn)
c.2712A>C (p.Lys904Asn)
c.2619A>C (p.Lys873Asn)
c.3492A>C (p.Lys1164Asn)
c.3531A>C (p.Lys1177Asn)
c.3447A>C (p.Lys1149Asn)
c.3477A>C (p.Lys1159Asn)
c.3555A>C (p.Lys1185Asn)
c.3546A>C (p.Lys1182Asn)
c.3507A>C (p.Lys1169Asn)
c.3606A>C (p.Lys1202Asn)
c.3603A>C (p.Lys1201Asn)
c.3594A>C (p.Lys1198Asn)
c.3588A>C (p.Lys1196Asn)
c.3585A>C (p.Lys1195Asn)
c.3543A>C (p.Lys1181Asn)
c.3540A>C (p.Lys1180Asn)
c.2646A>C (p.Lys882Asn)
2g.50091484T>ACA346819292NRXN1c.3557A>T (p.Lys1186Ile)
n.724A>T
c.444A>T (n.444A>T)
c.452A>T (p.Lys151Ile)
c.3677A>T (p.Lys1226Ile)
c.3521A>T (p.Lys1174Ile)
c.-281A>T (n.-281A>T)
c.3533A>T (p.Lys1178Ile)
n.366A>T
c.3578A>T (p.Lys1193Ile)
c.3575A>T (p.Lys1192Ile)
c.3566A>T (p.Lys1189Ile)
c.3560A>T (p.Lys1187Ile)
c.3551A>T (p.Lys1184Ile)
c.3548A>T (p.Lys1183Ile)
c.3518A>T (p.Lys1173Ile)
c.3488A>T (p.Lys1163Ile)
c.2783A>T (p.Lys928Ile)
c.2738A>T (p.Lys913Ile)
c.2711A>T (p.Lys904Ile)
c.2618A>T (p.Lys873Ile)
c.3491A>T (p.Lys1164Ile)
c.3530A>T (p.Lys1177Ile)
c.3446A>T (p.Lys1149Ile)
c.3476A>T (p.Lys1159Ile)
c.3554A>T (p.Lys1185Ile)
c.3545A>T (p.Lys1182Ile)
c.3506A>T (p.Lys1169Ile)
c.3605A>T (p.Lys1202Ile)
c.3602A>T (p.Lys1201Ile)
c.3593A>T (p.Lys1198Ile)
c.3587A>T (p.Lys1196Ile)
c.3584A>T (p.Lys1195Ile)
c.3542A>T (p.Lys1181Ile)
c.3539A>T (p.Lys1180Ile)
c.2645A>T (p.Lys882Ile)
2g.50091484T>CCA346819293NRXN1c.3557A>G (p.Lys1186Arg)
n.724A>G
c.444A>G (n.444A>G)
c.452A>G (p.Lys151Arg)
c.3677A>G (p.Lys1226Arg)
c.3521A>G (p.Lys1174Arg)
c.-281A>G (n.-281A>G)
c.3533A>G (p.Lys1178Arg)
n.366A>G
c.3578A>G (p.Lys1193Arg)
c.3575A>G (p.Lys1192Arg)
c.3566A>G (p.Lys1189Arg)
c.3560A>G (p.Lys1187Arg)
c.3551A>G (p.Lys1184Arg)
c.3548A>G (p.Lys1183Arg)
c.3518A>G (p.Lys1173Arg)
c.3488A>G (p.Lys1163Arg)
c.2783A>G (p.Lys928Arg)
c.2738A>G (p.Lys913Arg)
c.2711A>G (p.Lys904Arg)
c.2618A>G (p.Lys873Arg)
c.3491A>G (p.Lys1164Arg)
c.3530A>G (p.Lys1177Arg)
c.3446A>G (p.Lys1149Arg)
c.3476A>G (p.Lys1159Arg)
c.3554A>G (p.Lys1185Arg)
c.3545A>G (p.Lys1182Arg)
c.3506A>G (p.Lys1169Arg)
c.3605A>G (p.Lys1202Arg)
c.3602A>G (p.Lys1201Arg)
c.3593A>G (p.Lys1198Arg)
c.3587A>G (p.Lys1196Arg)
c.3584A>G (p.Lys1195Arg)
c.3542A>G (p.Lys1181Arg)
c.3539A>G (p.Lys1180Arg)
c.2645A>G (p.Lys882Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.50091484T>GCA346819294NRXN1c.3557A>C (p.Lys1186Thr)
n.724A>C
c.444A>C (n.444A>C)
c.452A>C (p.Lys151Thr)
c.3677A>C (p.Lys1226Thr)
c.3521A>C (p.Lys1174Thr)
c.-281A>C (n.-281A>C)
c.3533A>C (p.Lys1178Thr)
n.366A>C
c.3578A>C (p.Lys1193Thr)
c.3575A>C (p.Lys1192Thr)
c.3566A>C (p.Lys1189Thr)
c.3560A>C (p.Lys1187Thr)
c.3551A>C (p.Lys1184Thr)
c.3548A>C (p.Lys1183Thr)
c.3518A>C (p.Lys1173Thr)
c.3488A>C (p.Lys1163Thr)
c.2783A>C (p.Lys928Thr)
c.2738A>C (p.Lys913Thr)
c.2711A>C (p.Lys904Thr)
c.2618A>C (p.Lys873Thr)
c.3491A>C (p.Lys1164Thr)
c.3530A>C (p.Lys1177Thr)
c.3446A>C (p.Lys1149Thr)
c.3476A>C (p.Lys1159Thr)
c.3554A>C (p.Lys1185Thr)
c.3545A>C (p.Lys1182Thr)
c.3506A>C (p.Lys1169Thr)
c.3605A>C (p.Lys1202Thr)
c.3602A>C (p.Lys1201Thr)
c.3593A>C (p.Lys1198Thr)
c.3587A>C (p.Lys1196Thr)
c.3584A>C (p.Lys1195Thr)
c.3542A>C (p.Lys1181Thr)
c.3539A>C (p.Lys1180Thr)
c.2645A>C (p.Lys882Thr)
2g.50091484T=CA1249373467NRXN1c.3557A= (p.Lys1186=)
n.724A=
c.444A= (n.444A=)
c.452A= (p.Lys151=)
c.3677A= (p.Lys1226=)
c.3521A= (p.Lys1174=)
c.-281A= (n.-281A=)
c.3533A= (p.Lys1178=)
n.366A=
c.3578A= (p.Lys1193=)
c.3575A= (p.Lys1192=)
c.3566A= (p.Lys1189=)
c.3560A= (p.Lys1187=)
c.3551A= (p.Lys1184=)
c.3548A= (p.Lys1183=)
c.3518A= (p.Lys1173=)
c.3488A= (p.Lys1163=)
c.2783A= (p.Lys928=)
c.2738A= (p.Lys913=)
c.2711A= (p.Lys904=)
c.2618A= (p.Lys873=)
c.3491A= (p.Lys1164=)
c.3530A= (p.Lys1177=)
c.3446A= (p.Lys1149=)
c.3476A= (p.Lys1159=)
c.3554A= (p.Lys1185=)
c.3545A= (p.Lys1182=)
c.3506A= (p.Lys1169=)
c.3605A= (p.Lys1202=)
c.3602A= (p.Lys1201=)
c.3593A= (p.Lys1198=)
c.3587A= (p.Lys1196=)
c.3584A= (p.Lys1195=)
c.3542A= (p.Lys1181=)
c.3539A= (p.Lys1180=)
c.2645A= (p.Lys882=)
2g.50091485T>ACA346819295NRXN1c.3556A>T (p.Lys1186Ter)
n.723A>T
c.443A>T (n.443A>T)
c.451A>T (p.Lys151Ter)
c.3676A>T (p.Lys1226Ter)
c.3520A>T (p.Lys1174Ter)
c.-282A>T (n.-282A>T)
c.3532A>T (p.Lys1178Ter)
n.365A>T
c.3577A>T (p.Lys1193Ter)
c.3574A>T (p.Lys1192Ter)
c.3565A>T (p.Lys1189Ter)
c.3559A>T (p.Lys1187Ter)
c.3550A>T (p.Lys1184Ter)
c.3547A>T (p.Lys1183Ter)
c.3517A>T (p.Lys1173Ter)
c.3487A>T (p.Lys1163Ter)
c.2782A>T (p.Lys928Ter)
c.2737A>T (p.Lys913Ter)
c.2710A>T (p.Lys904Ter)
c.2617A>T (p.Lys873Ter)
c.3490A>T (p.Lys1164Ter)
c.3529A>T (p.Lys1177Ter)
c.3445A>T (p.Lys1149Ter)
c.3475A>T (p.Lys1159Ter)
c.3553A>T (p.Lys1185Ter)
c.3544A>T (p.Lys1182Ter)
c.3505A>T (p.Lys1169Ter)
c.3604A>T (p.Lys1202Ter)
c.3601A>T (p.Lys1201Ter)
c.3592A>T (p.Lys1198Ter)
c.3586A>T (p.Lys1196Ter)
c.3583A>T (p.Lys1195Ter)
c.3541A>T (p.Lys1181Ter)
c.3538A>T (p.Lys1180Ter)
c.2644A>T (p.Lys882Ter)
2g.50091485T>CCA346819296NRXN1c.3556A>G (p.Lys1186Glu)
n.723A>G
c.443A>G (n.443A>G)
c.451A>G (p.Lys151Glu)
c.3676A>G (p.Lys1226Glu)
c.3520A>G (p.Lys1174Glu)
c.-282A>G (n.-282A>G)
c.3532A>G (p.Lys1178Glu)
n.365A>G
c.3577A>G (p.Lys1193Glu)
c.3574A>G (p.Lys1192Glu)
c.3565A>G (p.Lys1189Glu)
c.3559A>G (p.Lys1187Glu)
c.3550A>G (p.Lys1184Glu)
c.3547A>G (p.Lys1183Glu)
c.3517A>G (p.Lys1173Glu)
c.3487A>G (p.Lys1163Glu)
c.2782A>G (p.Lys928Glu)
c.2737A>G (p.Lys913Glu)
c.2710A>G (p.Lys904Glu)
c.2617A>G (p.Lys873Glu)
c.3490A>G (p.Lys1164Glu)
c.3529A>G (p.Lys1177Glu)
c.3445A>G (p.Lys1149Glu)
c.3475A>G (p.Lys1159Glu)
c.3553A>G (p.Lys1185Glu)
c.3544A>G (p.Lys1182Glu)
c.3505A>G (p.Lys1169Glu)
c.3604A>G (p.Lys1202Glu)
c.3601A>G (p.Lys1201Glu)
c.3592A>G (p.Lys1198Glu)
c.3586A>G (p.Lys1196Glu)
c.3583A>G (p.Lys1195Glu)
c.3541A>G (p.Lys1181Glu)
c.3538A>G (p.Lys1180Glu)
c.2644A>G (p.Lys882Glu)
2g.50091485T>GCA346819297NRXN1c.3556A>C (p.Lys1186Gln)
n.723A>C
c.443A>C (n.443A>C)
c.451A>C (p.Lys151Gln)
c.3676A>C (p.Lys1226Gln)
c.3520A>C (p.Lys1174Gln)
c.-282A>C (n.-282A>C)
c.3532A>C (p.Lys1178Gln)
n.365A>C
c.3577A>C (p.Lys1193Gln)
c.3574A>C (p.Lys1192Gln)
c.3565A>C (p.Lys1189Gln)
c.3559A>C (p.Lys1187Gln)
c.3550A>C (p.Lys1184Gln)
c.3547A>C (p.Lys1183Gln)
c.3517A>C (p.Lys1173Gln)
c.3487A>C (p.Lys1163Gln)
c.2782A>C (p.Lys928Gln)
c.2737A>C (p.Lys913Gln)
c.2710A>C (p.Lys904Gln)
c.2617A>C (p.Lys873Gln)
c.3490A>C (p.Lys1164Gln)
c.3529A>C (p.Lys1177Gln)
c.3445A>C (p.Lys1149Gln)
c.3475A>C (p.Lys1159Gln)
c.3553A>C (p.Lys1185Gln)
c.3544A>C (p.Lys1182Gln)
c.3505A>C (p.Lys1169Gln)
c.3604A>C (p.Lys1202Gln)
c.3601A>C (p.Lys1201Gln)
c.3592A>C (p.Lys1198Gln)
c.3586A>C (p.Lys1196Gln)
c.3583A>C (p.Lys1195Gln)
c.3541A>C (p.Lys1181Gln)
c.3538A>C (p.Lys1180Gln)
c.2644A>C (p.Lys882Gln)
2g.50091486T>ACA426101694NRXN1c.3555A>T (p.Gly1185=)
n.722A>T
c.442A>T (n.442A>T)
c.450A>T (p.Gly150=)
c.3675A>T (p.Gly1225=)
c.3519A>T (p.Gly1173=)
c.-283A>T (n.-283A>T)
c.3531A>T (p.Gly1177=)
n.364A>T
c.3576A>T (p.Gly1192=)
c.3573A>T (p.Gly1191=)
c.3564A>T (p.Gly1188=)
c.3558A>T (p.Gly1186=)
c.3549A>T (p.Gly1183=)
c.3546A>T (p.Gly1182=)
c.3516A>T (p.Gly1172=)
c.3486A>T (p.Gly1162=)
c.2781A>T (p.Gly927=)
c.2736A>T (p.Gly912=)
c.2709A>T (p.Gly903=)
c.2616A>T (p.Gly872=)
c.3489A>T (p.Gly1163=)
c.3528A>T (p.Gly1176=)
c.3444A>T (p.Gly1148=)
c.3474A>T (p.Gly1158=)
c.3552A>T (p.Gly1184=)
c.3543A>T (p.Gly1181=)
c.3504A>T (p.Gly1168=)
c.3603A>T (p.Gly1201=)
c.3600A>T (p.Gly1200=)
c.3591A>T (p.Gly1197=)
c.3585A>T (p.Gly1195=)
c.3582A>T (p.Gly1194=)
c.3540A>T (p.Gly1180=)
c.3537A>T (p.Gly1179=)
c.2643A>T (p.Gly881=)
2g.50091486T>CCA426101695NRXN1c.3555A>G (p.Gly1185=)
n.722A>G
c.442A>G (n.442A>G)
c.450A>G (p.Gly150=)
c.3675A>G (p.Gly1225=)
c.3519A>G (p.Gly1173=)
c.-283A>G (n.-283A>G)
c.3531A>G (p.Gly1177=)
n.364A>G
c.3576A>G (p.Gly1192=)
c.3573A>G (p.Gly1191=)
c.3564A>G (p.Gly1188=)
c.3558A>G (p.Gly1186=)
c.3549A>G (p.Gly1183=)
c.3546A>G (p.Gly1182=)
c.3516A>G (p.Gly1172=)
c.3486A>G (p.Gly1162=)
c.2781A>G (p.Gly927=)
c.2736A>G (p.Gly912=)
c.2709A>G (p.Gly903=)
c.2616A>G (p.Gly872=)
c.3489A>G (p.Gly1163=)
c.3528A>G (p.Gly1176=)
c.3444A>G (p.Gly1148=)
c.3474A>G (p.Gly1158=)
c.3552A>G (p.Gly1184=)
c.3543A>G (p.Gly1181=)
c.3504A>G (p.Gly1168=)
c.3603A>G (p.Gly1201=)
c.3600A>G (p.Gly1200=)
c.3591A>G (p.Gly1197=)
c.3585A>G (p.Gly1195=)
c.3582A>G (p.Gly1194=)
c.3540A>G (p.Gly1180=)
c.3537A>G (p.Gly1179=)
c.2643A>G (p.Gly881=)
ClinVar dbSNP
2g.50091486T>GCA426101697NRXN1c.3555A>C (p.Gly1185=)
n.722A>C
c.442A>C (n.442A>C)
c.450A>C (p.Gly150=)
c.3675A>C (p.Gly1225=)
c.3519A>C (p.Gly1173=)
c.-283A>C (n.-283A>C)
c.3531A>C (p.Gly1177=)
n.364A>C
c.3576A>C (p.Gly1192=)
c.3573A>C (p.Gly1191=)
c.3564A>C (p.Gly1188=)
c.3558A>C (p.Gly1186=)
c.3549A>C (p.Gly1183=)
c.3546A>C (p.Gly1182=)
c.3516A>C (p.Gly1172=)
c.3486A>C (p.Gly1162=)
c.2781A>C (p.Gly927=)
c.2736A>C (p.Gly912=)
c.2709A>C (p.Gly903=)
c.2616A>C (p.Gly872=)
c.3489A>C (p.Gly1163=)
c.3528A>C (p.Gly1176=)
c.3444A>C (p.Gly1148=)
c.3474A>C (p.Gly1158=)
c.3552A>C (p.Gly1184=)
c.3543A>C (p.Gly1181=)
c.3504A>C (p.Gly1168=)
c.3603A>C (p.Gly1201=)
c.3600A>C (p.Gly1200=)
c.3591A>C (p.Gly1197=)
c.3585A>C (p.Gly1195=)
c.3582A>C (p.Gly1194=)
c.3540A>C (p.Gly1180=)
c.3537A>C (p.Gly1179=)
c.2643A>C (p.Gly881=)
2g.50091487C>ACA346819298NRXN1c.3554G>T (p.Gly1185Val)
n.721G>T
c.441G>T (n.441G>T)
c.449G>T (p.Gly150Val)
c.3674G>T (p.Gly1225Val)
c.3518G>T (p.Gly1173Val)
c.-284G>T (n.-284G>T)
c.3530G>T (p.Gly1177Val)
n.363G>T
c.3575G>T (p.Gly1192Val)
c.3572G>T (p.Gly1191Val)
c.3563G>T (p.Gly1188Val)
c.3557G>T (p.Gly1186Val)
c.3548G>T (p.Gly1183Val)
c.3545G>T (p.Gly1182Val)
c.3515G>T (p.Gly1172Val)
c.3485G>T (p.Gly1162Val)
c.2780G>T (p.Gly927Val)
c.2735G>T (p.Gly912Val)
c.2708G>T (p.Gly903Val)
c.2615G>T (p.Gly872Val)
c.3488G>T (p.Gly1163Val)
c.3527G>T (p.Gly1176Val)
c.3443G>T (p.Gly1148Val)
c.3473G>T (p.Gly1158Val)
c.3551G>T (p.Gly1184Val)
c.3542G>T (p.Gly1181Val)
c.3503G>T (p.Gly1168Val)
c.3602G>T (p.Gly1201Val)
c.3599G>T (p.Gly1200Val)
c.3590G>T (p.Gly1197Val)
c.3584G>T (p.Gly1195Val)
c.3581G>T (p.Gly1194Val)
c.3539G>T (p.Gly1180Val)
c.3536G>T (p.Gly1179Val)
c.2642G>T (p.Gly881Val)
2g.50091487C>GCA346819300NRXN1c.3554G>C (p.Gly1185Ala)
n.721G>C
c.441G>C (n.441G>C)
c.449G>C (p.Gly150Ala)
c.3674G>C (p.Gly1225Ala)
c.3518G>C (p.Gly1173Ala)
c.-284G>C (n.-284G>C)
c.3530G>C (p.Gly1177Ala)
n.363G>C
c.3575G>C (p.Gly1192Ala)
c.3572G>C (p.Gly1191Ala)
c.3563G>C (p.Gly1188Ala)
c.3557G>C (p.Gly1186Ala)
c.3548G>C (p.Gly1183Ala)
c.3545G>C (p.Gly1182Ala)
c.3515G>C (p.Gly1172Ala)
c.3485G>C (p.Gly1162Ala)
c.2780G>C (p.Gly927Ala)
c.2735G>C (p.Gly912Ala)
c.2708G>C (p.Gly903Ala)
c.2615G>C (p.Gly872Ala)
c.3488G>C (p.Gly1163Ala)
c.3527G>C (p.Gly1176Ala)
c.3443G>C (p.Gly1148Ala)
c.3473G>C (p.Gly1158Ala)
c.3551G>C (p.Gly1184Ala)
c.3542G>C (p.Gly1181Ala)
c.3503G>C (p.Gly1168Ala)
c.3602G>C (p.Gly1201Ala)
c.3599G>C (p.Gly1200Ala)
c.3590G>C (p.Gly1197Ala)
c.3584G>C (p.Gly1195Ala)
c.3581G>C (p.Gly1194Ala)
c.3539G>C (p.Gly1180Ala)
c.3536G>C (p.Gly1179Ala)
c.2642G>C (p.Gly881Ala)
2g.50091487C>TCA346819299NRXN1c.3554G>A (p.Gly1185Glu)
n.721G>A
c.441G>A (n.441G>A)
c.449G>A (p.Gly150Glu)
c.3674G>A (p.Gly1225Glu)
c.3518G>A (p.Gly1173Glu)
c.-284G>A (n.-284G>A)
c.3530G>A (p.Gly1177Glu)
n.363G>A
c.3575G>A (p.Gly1192Glu)
c.3572G>A (p.Gly1191Glu)
c.3563G>A (p.Gly1188Glu)
c.3557G>A (p.Gly1186Glu)
c.3548G>A (p.Gly1183Glu)
c.3545G>A (p.Gly1182Glu)
c.3515G>A (p.Gly1172Glu)
c.3485G>A (p.Gly1162Glu)
c.2780G>A (p.Gly927Glu)
c.2735G>A (p.Gly912Glu)
c.2708G>A (p.Gly903Glu)
c.2615G>A (p.Gly872Glu)
c.3488G>A (p.Gly1163Glu)
c.3527G>A (p.Gly1176Glu)
c.3443G>A (p.Gly1148Glu)
c.3473G>A (p.Gly1158Glu)
c.3551G>A (p.Gly1184Glu)
c.3542G>A (p.Gly1181Glu)
c.3503G>A (p.Gly1168Glu)
c.3602G>A (p.Gly1201Glu)
c.3599G>A (p.Gly1200Glu)
c.3590G>A (p.Gly1197Glu)
c.3584G>A (p.Gly1195Glu)
c.3581G>A (p.Gly1194Glu)
c.3539G>A (p.Gly1180Glu)
c.3536G>A (p.Gly1179Glu)
c.2642G>A (p.Gly881Glu)
2g.50091488C>ACA346819301NRXN1c.3553G>T (p.Gly1185Ter)
n.720G>T
c.440G>T (n.440G>T)
c.448G>T (p.Gly150Ter)
c.3673G>T (p.Gly1225Ter)
c.3517G>T (p.Gly1173Ter)
c.-285G>T (n.-285G>T)
c.3529G>T (p.Gly1177Ter)
n.362G>T
c.3574G>T (p.Gly1192Ter)
c.3571G>T (p.Gly1191Ter)
c.3562G>T (p.Gly1188Ter)
c.3556G>T (p.Gly1186Ter)
c.3547G>T (p.Gly1183Ter)
c.3544G>T (p.Gly1182Ter)
c.3514G>T (p.Gly1172Ter)
c.3484G>T (p.Gly1162Ter)
c.2779G>T (p.Gly927Ter)
c.2734G>T (p.Gly912Ter)
c.2707G>T (p.Gly903Ter)
c.2614G>T (p.Gly872Ter)
c.3487G>T (p.Gly1163Ter)
c.3526G>T (p.Gly1176Ter)
c.3442G>T (p.Gly1148Ter)
c.3472G>T (p.Gly1158Ter)
c.3550G>T (p.Gly1184Ter)
c.3541G>T (p.Gly1181Ter)
c.3502G>T (p.Gly1168Ter)
c.3601G>T (p.Gly1201Ter)
c.3598G>T (p.Gly1200Ter)
c.3589G>T (p.Gly1197Ter)
c.3583G>T (p.Gly1195Ter)
c.3580G>T (p.Gly1194Ter)
c.3538G>T (p.Gly1180Ter)
c.3535G>T (p.Gly1179Ter)
c.2641G>T (p.Gly881Ter)
2g.50091488C>GCA346819303NRXN1c.3553G>C (p.Gly1185Arg)
n.720G>C
c.440G>C (n.440G>C)
c.448G>C (p.Gly150Arg)
c.3673G>C (p.Gly1225Arg)
c.3517G>C (p.Gly1173Arg)
c.-285G>C (n.-285G>C)
c.3529G>C (p.Gly1177Arg)
n.362G>C
c.3574G>C (p.Gly1192Arg)
c.3571G>C (p.Gly1191Arg)
c.3562G>C (p.Gly1188Arg)
c.3556G>C (p.Gly1186Arg)
c.3547G>C (p.Gly1183Arg)
c.3544G>C (p.Gly1182Arg)
c.3514G>C (p.Gly1172Arg)
c.3484G>C (p.Gly1162Arg)
c.2779G>C (p.Gly927Arg)
c.2734G>C (p.Gly912Arg)
c.2707G>C (p.Gly903Arg)
c.2614G>C (p.Gly872Arg)
c.3487G>C (p.Gly1163Arg)
c.3526G>C (p.Gly1176Arg)
c.3442G>C (p.Gly1148Arg)
c.3472G>C (p.Gly1158Arg)
c.3550G>C (p.Gly1184Arg)
c.3541G>C (p.Gly1181Arg)
c.3502G>C (p.Gly1168Arg)
c.3601G>C (p.Gly1201Arg)
c.3598G>C (p.Gly1200Arg)
c.3589G>C (p.Gly1197Arg)
c.3583G>C (p.Gly1195Arg)
c.3580G>C (p.Gly1194Arg)
c.3538G>C (p.Gly1180Arg)
c.3535G>C (p.Gly1179Arg)
c.2641G>C (p.Gly881Arg)
2g.50091488C>TCA346819302NRXN1c.3553G>A (p.Gly1185Arg)
n.720G>A
c.440G>A (n.440G>A)
c.448G>A (p.Gly150Arg)
c.3673G>A (p.Gly1225Arg)
c.3517G>A (p.Gly1173Arg)
c.-285G>A (n.-285G>A)
c.3529G>A (p.Gly1177Arg)
n.362G>A
c.3574G>A (p.Gly1192Arg)
c.3571G>A (p.Gly1191Arg)
c.3562G>A (p.Gly1188Arg)
c.3556G>A (p.Gly1186Arg)
c.3547G>A (p.Gly1183Arg)
c.3544G>A (p.Gly1182Arg)
c.3514G>A (p.Gly1172Arg)
c.3484G>A (p.Gly1162Arg)
c.2779G>A (p.Gly927Arg)
c.2734G>A (p.Gly912Arg)
c.2707G>A (p.Gly903Arg)
c.2614G>A (p.Gly872Arg)
c.3487G>A (p.Gly1163Arg)
c.3526G>A (p.Gly1176Arg)
c.3442G>A (p.Gly1148Arg)
c.3472G>A (p.Gly1158Arg)
c.3550G>A (p.Gly1184Arg)
c.3541G>A (p.Gly1181Arg)
c.3502G>A (p.Gly1168Arg)
c.3601G>A (p.Gly1201Arg)
c.3598G>A (p.Gly1200Arg)
c.3589G>A (p.Gly1197Arg)
c.3583G>A (p.Gly1195Arg)
c.3580G>A (p.Gly1194Arg)
c.3538G>A (p.Gly1180Arg)
c.3535G>A (p.Gly1179Arg)
c.2641G>A (p.Gly881Arg)
gnomAD v4
2g.50091489C>ACA346819304NRXN1c.3552G>T (p.Gln1184His)
n.719G>T
c.439G>T (n.439G>T)
c.447G>T (p.Gln149His)
c.3672G>T (p.Gln1224His)
c.3516G>T (p.Gln1172His)
c.-286G>T (n.-286G>T)
c.3528G>T (p.Gln1176His)
n.361G>T
c.3573G>T (p.Gln1191His)
c.3570G>T (p.Gln1190His)
c.3561G>T (p.Gln1187His)
c.3555G>T (p.Gln1185His)
c.3546G>T (p.Gln1182His)
c.3543G>T (p.Gln1181His)
c.3513G>T (p.Gln1171His)
c.3483G>T (p.Gln1161His)
c.2778G>T (p.Gln926His)
c.2733G>T (p.Gln911His)
c.2706G>T (p.Gln902His)
c.2613G>T (p.Gln871His)
c.3486G>T (p.Gln1162His)
c.3525G>T (p.Gln1175His)
c.3441G>T (p.Gln1147His)
c.3471G>T (p.Gln1157His)
c.3549G>T (p.Gln1183His)
c.3540G>T (p.Gln1180His)
c.3501G>T (p.Gln1167His)
c.3600G>T (p.Gln1200His)
c.3597G>T (p.Gln1199His)
c.3588G>T (p.Gln1196His)
c.3582G>T (p.Gln1194His)
c.3579G>T (p.Gln1193His)
c.3537G>T (p.Gln1179His)
c.3534G>T (p.Gln1178His)
c.2640G>T (p.Gln880His)
2g.50091489C=CA1249373468NRXN1c.3552G= (p.Gln1184=)
n.719G=
c.439G= (n.439G=)
c.447G= (p.Gln149=)
c.3672G= (p.Gln1224=)
c.3516G= (p.Gln1172=)
c.-286G= (n.-286G=)
c.3528G= (p.Gln1176=)
n.361G=
c.3573G= (p.Gln1191=)
c.3570G= (p.Gln1190=)
c.3561G= (p.Gln1187=)
c.3555G= (p.Gln1185=)
c.3546G= (p.Gln1182=)
c.3543G= (p.Gln1181=)
c.3513G= (p.Gln1171=)
c.3483G= (p.Gln1161=)
c.2778G= (p.Gln926=)
c.2733G= (p.Gln911=)
c.2706G= (p.Gln902=)
c.2613G= (p.Gln871=)
c.3486G= (p.Gln1162=)
c.3525G= (p.Gln1175=)
c.3441G= (p.Gln1147=)
c.3471G= (p.Gln1157=)
c.3549G= (p.Gln1183=)
c.3540G= (p.Gln1180=)
c.3501G= (p.Gln1167=)
c.3600G= (p.Gln1200=)
c.3597G= (p.Gln1199=)
c.3588G= (p.Gln1196=)
c.3582G= (p.Gln1194=)
c.3579G= (p.Gln1193=)
c.3537G= (p.Gln1179=)
c.3534G= (p.Gln1178=)
c.2640G= (p.Gln880=)
2g.50091489C>GCA10614137NRXN1c.3552G>C (p.Gln1184His)
n.719G>C
c.439G>C (n.439G>C)
c.447G>C (p.Gln149His)
c.3672G>C (p.Gln1224His)
c.3516G>C (p.Gln1172His)
c.-286G>C (n.-286G>C)
c.3528G>C (p.Gln1176His)
n.361G>C
c.3573G>C (p.Gln1191His)
c.3570G>C (p.Gln1190His)
c.3561G>C (p.Gln1187His)
c.3555G>C (p.Gln1185His)
c.3546G>C (p.Gln1182His)
c.3543G>C (p.Gln1181His)
c.3513G>C (p.Gln1171His)
c.3483G>C (p.Gln1161His)
c.2778G>C (p.Gln926His)
c.2733G>C (p.Gln911His)
c.2706G>C (p.Gln902His)
c.2613G>C (p.Gln871His)
c.3486G>C (p.Gln1162His)
c.3525G>C (p.Gln1175His)
c.3441G>C (p.Gln1147His)
c.3471G>C (p.Gln1157His)
c.3549G>C (p.Gln1183His)
c.3540G>C (p.Gln1180His)
c.3501G>C (p.Gln1167His)
c.3600G>C (p.Gln1200His)
c.3597G>C (p.Gln1199His)
c.3588G>C (p.Gln1196His)
c.3582G>C (p.Gln1194His)
c.3579G>C (p.Gln1193His)
c.3537G>C (p.Gln1179His)
c.3534G>C (p.Gln1178His)
c.2640G>C (p.Gln880His)
ClinVar dbSNP gnomAD v4
2g.50091489C>TCA426101699NRXN1c.3552G>A (p.Gln1184=)
n.719G>A
c.439G>A (n.439G>A)
c.447G>A (p.Gln149=)
c.3672G>A (p.Gln1224=)
c.3516G>A (p.Gln1172=)
c.-286G>A (n.-286G>A)
c.3528G>A (p.Gln1176=)
n.361G>A
c.3573G>A (p.Gln1191=)
c.3570G>A (p.Gln1190=)
c.3561G>A (p.Gln1187=)
c.3555G>A (p.Gln1185=)
c.3546G>A (p.Gln1182=)
c.3543G>A (p.Gln1181=)
c.3513G>A (p.Gln1171=)
c.3483G>A (p.Gln1161=)
c.2778G>A (p.Gln926=)
c.2733G>A (p.Gln911=)
c.2706G>A (p.Gln902=)
c.2613G>A (p.Gln871=)
c.3486G>A (p.Gln1162=)
c.3525G>A (p.Gln1175=)
c.3441G>A (p.Gln1147=)
c.3471G>A (p.Gln1157=)
c.3549G>A (p.Gln1183=)
c.3540G>A (p.Gln1180=)
c.3501G>A (p.Gln1167=)
c.3600G>A (p.Gln1200=)
c.3597G>A (p.Gln1199=)
c.3588G>A (p.Gln1196=)
c.3582G>A (p.Gln1194=)
c.3579G>A (p.Gln1193=)
c.3537G>A (p.Gln1179=)
c.3534G>A (p.Gln1178=)
c.2640G>A (p.Gln880=)
2g.50091490T>ACA346819305NRXN1c.3551A>T (p.Gln1184Leu)
n.718A>T
c.438A>T (n.438A>T)
c.446A>T (p.Gln149Leu)
c.3671A>T (p.Gln1224Leu)
c.3515A>T (p.Gln1172Leu)
c.-287A>T (n.-287A>T)
c.3527A>T (p.Gln1176Leu)
n.360A>T
c.3572A>T (p.Gln1191Leu)
c.3569A>T (p.Gln1190Leu)
c.3560A>T (p.Gln1187Leu)
c.3554A>T (p.Gln1185Leu)
c.3545A>T (p.Gln1182Leu)
c.3542A>T (p.Gln1181Leu)
c.3512A>T (p.Gln1171Leu)
c.3482A>T (p.Gln1161Leu)
c.2777A>T (p.Gln926Leu)
c.2732A>T (p.Gln911Leu)
c.2705A>T (p.Gln902Leu)
c.2612A>T (p.Gln871Leu)
c.3485A>T (p.Gln1162Leu)
c.3524A>T (p.Gln1175Leu)
c.3440A>T (p.Gln1147Leu)
c.3470A>T (p.Gln1157Leu)
c.3548A>T (p.Gln1183Leu)
c.3539A>T (p.Gln1180Leu)
c.3500A>T (p.Gln1167Leu)
c.3599A>T (p.Gln1200Leu)
c.3596A>T (p.Gln1199Leu)
c.3587A>T (p.Gln1196Leu)
c.3581A>T (p.Gln1194Leu)
c.3578A>T (p.Gln1193Leu)
c.3536A>T (p.Gln1179Leu)
c.3533A>T (p.Gln1178Leu)
c.2639A>T (p.Gln880Leu)
2g.50091490T>CCA346819306NRXN1c.3551A>G (p.Gln1184Arg)
n.718A>G
c.438A>G (n.438A>G)
c.446A>G (p.Gln149Arg)
c.3671A>G (p.Gln1224Arg)
c.3515A>G (p.Gln1172Arg)
c.-287A>G (n.-287A>G)
c.3527A>G (p.Gln1176Arg)
n.360A>G
c.3572A>G (p.Gln1191Arg)
c.3569A>G (p.Gln1190Arg)
c.3560A>G (p.Gln1187Arg)
c.3554A>G (p.Gln1185Arg)
c.3545A>G (p.Gln1182Arg)
c.3542A>G (p.Gln1181Arg)
c.3512A>G (p.Gln1171Arg)
c.3482A>G (p.Gln1161Arg)
c.2777A>G (p.Gln926Arg)
c.2732A>G (p.Gln911Arg)
c.2705A>G (p.Gln902Arg)
c.2612A>G (p.Gln871Arg)
c.3485A>G (p.Gln1162Arg)
c.3524A>G (p.Gln1175Arg)
c.3440A>G (p.Gln1147Arg)
c.3470A>G (p.Gln1157Arg)
c.3548A>G (p.Gln1183Arg)
c.3539A>G (p.Gln1180Arg)
c.3500A>G (p.Gln1167Arg)
c.3599A>G (p.Gln1200Arg)
c.3596A>G (p.Gln1199Arg)
c.3587A>G (p.Gln1196Arg)
c.3581A>G (p.Gln1194Arg)
c.3578A>G (p.Gln1193Arg)
c.3536A>G (p.Gln1179Arg)
c.3533A>G (p.Gln1178Arg)
c.2639A>G (p.Gln880Arg)
2g.50091490T>GCA346819307NRXN1c.3551A>C (p.Gln1184Pro)
n.718A>C
c.438A>C (n.438A>C)
c.446A>C (p.Gln149Pro)
c.3671A>C (p.Gln1224Pro)
c.3515A>C (p.Gln1172Pro)
c.-287A>C (n.-287A>C)
c.3527A>C (p.Gln1176Pro)
n.360A>C
c.3572A>C (p.Gln1191Pro)
c.3569A>C (p.Gln1190Pro)
c.3560A>C (p.Gln1187Pro)
c.3554A>C (p.Gln1185Pro)
c.3545A>C (p.Gln1182Pro)
c.3542A>C (p.Gln1181Pro)
c.3512A>C (p.Gln1171Pro)
c.3482A>C (p.Gln1161Pro)
c.2777A>C (p.Gln926Pro)
c.2732A>C (p.Gln911Pro)
c.2705A>C (p.Gln902Pro)
c.2612A>C (p.Gln871Pro)
c.3485A>C (p.Gln1162Pro)
c.3524A>C (p.Gln1175Pro)
c.3440A>C (p.Gln1147Pro)
c.3470A>C (p.Gln1157Pro)
c.3548A>C (p.Gln1183Pro)
c.3539A>C (p.Gln1180Pro)
c.3500A>C (p.Gln1167Pro)
c.3599A>C (p.Gln1200Pro)
c.3596A>C (p.Gln1199Pro)
c.3587A>C (p.Gln1196Pro)
c.3581A>C (p.Gln1194Pro)
c.3578A>C (p.Gln1193Pro)
c.3536A>C (p.Gln1179Pro)
c.3533A>C (p.Gln1178Pro)
c.2639A>C (p.Gln880Pro)
2g.50091491G>ACA346819308NRXN1c.3550C>T (p.Gln1184Ter)
n.717C>T
c.437C>T (n.437C>T)
c.445C>T (p.Gln149Ter)
c.3670C>T (p.Gln1224Ter)
c.3514C>T (p.Gln1172Ter)
c.-288C>T (n.-288C>T)
c.3526C>T (p.Gln1176Ter)
n.359C>T
c.3571C>T (p.Gln1191Ter)
c.3568C>T (p.Gln1190Ter)
c.3559C>T (p.Gln1187Ter)
c.3553C>T (p.Gln1185Ter)
c.3544C>T (p.Gln1182Ter)
c.3541C>T (p.Gln1181Ter)
c.3511C>T (p.Gln1171Ter)
c.3481C>T (p.Gln1161Ter)
c.2776C>T (p.Gln926Ter)
c.2731C>T (p.Gln911Ter)
c.2704C>T (p.Gln902Ter)
c.2611C>T (p.Gln871Ter)
c.3484C>T (p.Gln1162Ter)
c.3523C>T (p.Gln1175Ter)
c.3439C>T (p.Gln1147Ter)
c.3469C>T (p.Gln1157Ter)
c.3547C>T (p.Gln1183Ter)
c.3538C>T (p.Gln1180Ter)
c.3499C>T (p.Gln1167Ter)
c.3598C>T (p.Gln1200Ter)
c.3595C>T (p.Gln1199Ter)
c.3586C>T (p.Gln1196Ter)
c.3580C>T (p.Gln1194Ter)
c.3577C>T (p.Gln1193Ter)
c.3535C>T (p.Gln1179Ter)
c.3532C>T (p.Gln1178Ter)
c.2638C>T (p.Gln880Ter)
2g.50091491G>CCA346819309NRXN1c.3550C>G (p.Gln1184Glu)
n.717C>G
c.437C>G (n.437C>G)
c.445C>G (p.Gln149Glu)
c.3670C>G (p.Gln1224Glu)
c.3514C>G (p.Gln1172Glu)
c.-288C>G (n.-288C>G)
c.3526C>G (p.Gln1176Glu)
n.359C>G
c.3571C>G (p.Gln1191Glu)
c.3568C>G (p.Gln1190Glu)
c.3559C>G (p.Gln1187Glu)
c.3553C>G (p.Gln1185Glu)
c.3544C>G (p.Gln1182Glu)
c.3541C>G (p.Gln1181Glu)
c.3511C>G (p.Gln1171Glu)
c.3481C>G (p.Gln1161Glu)
c.2776C>G (p.Gln926Glu)
c.2731C>G (p.Gln911Glu)
c.2704C>G (p.Gln902Glu)
c.2611C>G (p.Gln871Glu)
c.3484C>G (p.Gln1162Glu)
c.3523C>G (p.Gln1175Glu)
c.3439C>G (p.Gln1147Glu)
c.3469C>G (p.Gln1157Glu)
c.3547C>G (p.Gln1183Glu)
c.3538C>G (p.Gln1180Glu)
c.3499C>G (p.Gln1167Glu)
c.3598C>G (p.Gln1200Glu)
c.3595C>G (p.Gln1199Glu)
c.3586C>G (p.Gln1196Glu)
c.3580C>G (p.Gln1194Glu)
c.3577C>G (p.Gln1193Glu)
c.3535C>G (p.Gln1179Glu)
c.3532C>G (p.Gln1178Glu)
c.2638C>G (p.Gln880Glu)
2g.50091491G=CA1249373469NRXN1c.3550C= (p.Gln1184=)
n.717C=
c.437C= (n.437C=)
c.445C= (p.Gln149=)
c.3670C= (p.Gln1224=)
c.3514C= (p.Gln1172=)
c.-288C= (n.-288C=)
c.3526C= (p.Gln1176=)
n.359C=
c.3571C= (p.Gln1191=)
c.3568C= (p.Gln1190=)
c.3559C= (p.Gln1187=)
c.3553C= (p.Gln1185=)
c.3544C= (p.Gln1182=)
c.3541C= (p.Gln1181=)
c.3511C= (p.Gln1171=)
c.3481C= (p.Gln1161=)
c.2776C= (p.Gln926=)
c.2731C= (p.Gln911=)
c.2704C= (p.Gln902=)
c.2611C= (p.Gln871=)
c.3484C= (p.Gln1162=)
c.3523C= (p.Gln1175=)
c.3439C= (p.Gln1147=)
c.3469C= (p.Gln1157=)
c.3547C= (p.Gln1183=)
c.3538C= (p.Gln1180=)
c.3499C= (p.Gln1167=)
c.3598C= (p.Gln1200=)
c.3595C= (p.Gln1199=)
c.3586C= (p.Gln1196=)
c.3580C= (p.Gln1194=)
c.3577C= (p.Gln1193=)
c.3535C= (p.Gln1179=)
c.3532C= (p.Gln1178=)
c.2638C= (p.Gln880=)
2g.50091491G>TCA1654419NRXN1c.3550C>A (p.Gln1184Lys)
n.717C>A
c.437C>A (n.437C>A)
c.445C>A (p.Gln149Lys)
c.3670C>A (p.Gln1224Lys)
c.3514C>A (p.Gln1172Lys)
c.-288C>A (n.-288C>A)
c.3526C>A (p.Gln1176Lys)
n.359C>A
c.3571C>A (p.Gln1191Lys)
c.3568C>A (p.Gln1190Lys)
c.3559C>A (p.Gln1187Lys)
c.3553C>A (p.Gln1185Lys)
c.3544C>A (p.Gln1182Lys)
c.3541C>A (p.Gln1181Lys)
c.3511C>A (p.Gln1171Lys)
c.3481C>A (p.Gln1161Lys)
c.2776C>A (p.Gln926Lys)
c.2731C>A (p.Gln911Lys)
c.2704C>A (p.Gln902Lys)
c.2611C>A (p.Gln871Lys)
c.3484C>A (p.Gln1162Lys)
c.3523C>A (p.Gln1175Lys)
c.3439C>A (p.Gln1147Lys)
c.3469C>A (p.Gln1157Lys)
c.3547C>A (p.Gln1183Lys)
c.3538C>A (p.Gln1180Lys)
c.3499C>A (p.Gln1167Lys)
c.3598C>A (p.Gln1200Lys)
c.3595C>A (p.Gln1199Lys)
c.3586C>A (p.Gln1196Lys)
c.3580C>A (p.Gln1194Lys)
c.3577C>A (p.Gln1193Lys)
c.3535C>A (p.Gln1179Lys)
c.3532C>A (p.Gln1178Lys)
c.2638C>A (p.Gln880Lys)
dbSNP ExAC COSMIC COSMIC
2g.50091492G>ACA1654420NRXN1c.3549C>T (p.His1183=)
n.716C>T
c.436C>T (n.436C>T)
c.444C>T (p.His148=)
c.3669C>T (p.His1223=)
c.3513C>T (p.His1171=)
c.-289C>T (n.-289C>T)
c.3525C>T (p.His1175=)
n.358C>T
c.3570C>T (p.His1190=)
c.3567C>T (p.His1189=)
c.3558C>T (p.His1186=)
c.3552C>T (p.His1184=)
c.3543C>T (p.His1181=)
c.3540C>T (p.His1180=)
c.3510C>T (p.His1170=)
c.3480C>T (p.His1160=)
c.2775C>T (p.His925=)
c.2730C>T (p.His910=)
c.2703C>T (p.His901=)
c.2610C>T (p.His870=)
c.3483C>T (p.His1161=)
c.3522C>T (p.His1174=)
c.3438C>T (p.His1146=)
c.3468C>T (p.His1156=)
c.3546C>T (p.His1182=)
c.3537C>T (p.His1179=)
c.3498C>T (p.His1166=)
c.3597C>T (p.His1199=)
c.3594C>T (p.His1198=)
c.3585C>T (p.His1195=)
c.3579C>T (p.His1193=)
c.3576C>T (p.His1192=)
c.3534C>T (p.His1178=)
c.3531C>T (p.His1177=)
c.2637C>T (p.His879=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.50091492G>CCA346819310NRXN1c.3549C>G (p.His1183Gln)
n.716C>G
c.436C>G (n.436C>G)
c.444C>G (p.His148Gln)
c.3669C>G (p.His1223Gln)
c.3513C>G (p.His1171Gln)
c.-289C>G (n.-289C>G)
c.3525C>G (p.His1175Gln)
n.358C>G
c.3570C>G (p.His1190Gln)
c.3567C>G (p.His1189Gln)
c.3558C>G (p.His1186Gln)
c.3552C>G (p.His1184Gln)
c.3543C>G (p.His1181Gln)
c.3540C>G (p.His1180Gln)
c.3510C>G (p.His1170Gln)
c.3480C>G (p.His1160Gln)
c.2775C>G (p.His925Gln)
c.2730C>G (p.His910Gln)
c.2703C>G (p.His901Gln)
c.2610C>G (p.His870Gln)
c.3483C>G (p.His1161Gln)
c.3522C>G (p.His1174Gln)
c.3438C>G (p.His1146Gln)
c.3468C>G (p.His1156Gln)
c.3546C>G (p.His1182Gln)
c.3537C>G (p.His1179Gln)
c.3498C>G (p.His1166Gln)
c.3597C>G (p.His1199Gln)
c.3594C>G (p.His1198Gln)
c.3585C>G (p.His1195Gln)
c.3579C>G (p.His1193Gln)
c.3576C>G (p.His1192Gln)
c.3534C>G (p.His1178Gln)
c.3531C>G (p.His1177Gln)
c.2637C>G (p.His879Gln)
2g.50091492G=CA1249373470NRXN1c.3549C= (p.His1183=)
n.716C=
c.436C= (n.436C=)
c.444C= (p.His148=)
c.3669C= (p.His1223=)
c.3513C= (p.His1171=)
c.-289C= (n.-289C=)
c.3525C= (p.His1175=)
n.358C=
c.3570C= (p.His1190=)
c.3567C= (p.His1189=)
c.3558C= (p.His1186=)
c.3552C= (p.His1184=)
c.3543C= (p.His1181=)
c.3540C= (p.His1180=)
c.3510C= (p.His1170=)
c.3480C= (p.His1160=)
c.2775C= (p.His925=)
c.2730C= (p.His910=)
c.2703C= (p.His901=)
c.2610C= (p.His870=)
c.3483C= (p.His1161=)
c.3522C= (p.His1174=)
c.3438C= (p.His1146=)
c.3468C= (p.His1156=)
c.3546C= (p.His1182=)
c.3537C= (p.His1179=)
c.3498C= (p.His1166=)
c.3597C= (p.His1199=)
c.3594C= (p.His1198=)
c.3585C= (p.His1195=)
c.3579C= (p.His1193=)
c.3576C= (p.His1192=)
c.3534C= (p.His1178=)
c.3531C= (p.His1177=)
c.2637C= (p.His879=)
2g.50091492G>TCA346819311NRXN1c.3549C>A (p.His1183Gln)
n.716C>A
c.436C>A (n.436C>A)
c.444C>A (p.His148Gln)
c.3669C>A (p.His1223Gln)
c.3513C>A (p.His1171Gln)
c.-289C>A (n.-289C>A)
c.3525C>A (p.His1175Gln)
n.358C>A
c.3570C>A (p.His1190Gln)
c.3567C>A (p.His1189Gln)
c.3558C>A (p.His1186Gln)
c.3552C>A (p.His1184Gln)
c.3543C>A (p.His1181Gln)
c.3540C>A (p.His1180Gln)
c.3510C>A (p.His1170Gln)
c.3480C>A (p.His1160Gln)
c.2775C>A (p.His925Gln)
c.2730C>A (p.His910Gln)
c.2703C>A (p.His901Gln)
c.2610C>A (p.His870Gln)
c.3483C>A (p.His1161Gln)
c.3522C>A (p.His1174Gln)
c.3438C>A (p.His1146Gln)
c.3468C>A (p.His1156Gln)
c.3546C>A (p.His1182Gln)
c.3537C>A (p.His1179Gln)
c.3498C>A (p.His1166Gln)
c.3597C>A (p.His1199Gln)
c.3594C>A (p.His1198Gln)
c.3585C>A (p.His1195Gln)
c.3579C>A (p.His1193Gln)
c.3576C>A (p.His1192Gln)
c.3534C>A (p.His1178Gln)
c.3531C>A (p.His1177Gln)
c.2637C>A (p.His879Gln)
2g.50091493T>ACA346819314NRXN1c.3548A>T (p.His1183Leu)
n.715A>T
c.435A>T (n.435A>T)
c.443A>T (p.His148Leu)
c.3668A>T (p.His1223Leu)
c.3512A>T (p.His1171Leu)
c.-290A>T (n.-290A>T)
c.3524A>T (p.His1175Leu)
n.357A>T
c.3569A>T (p.His1190Leu)
c.3566A>T (p.His1189Leu)
c.3557A>T (p.His1186Leu)
c.3551A>T (p.His1184Leu)
c.3542A>T (p.His1181Leu)
c.3539A>T (p.His1180Leu)
c.3509A>T (p.His1170Leu)
c.3479A>T (p.His1160Leu)
c.2774A>T (p.His925Leu)
c.2729A>T (p.His910Leu)
c.2702A>T (p.His901Leu)
c.2609A>T (p.His870Leu)
c.3482A>T (p.His1161Leu)
c.3521A>T (p.His1174Leu)
c.3437A>T (p.His1146Leu)
c.3467A>T (p.His1156Leu)
c.3545A>T (p.His1182Leu)
c.3536A>T (p.His1179Leu)
c.3497A>T (p.His1166Leu)
c.3596A>T (p.His1199Leu)
c.3593A>T (p.His1198Leu)
c.3584A>T (p.His1195Leu)
c.3578A>T (p.His1193Leu)
c.3575A>T (p.His1192Leu)
c.3533A>T (p.His1178Leu)
c.3530A>T (p.His1177Leu)
c.2636A>T (p.His879Leu)
2g.50091493T>CCA346819313NRXN1c.3548A>G (p.His1183Arg)
n.715A>G
c.435A>G (n.435A>G)
c.443A>G (p.His148Arg)
c.3668A>G (p.His1223Arg)
c.3512A>G (p.His1171Arg)
c.-290A>G (n.-290A>G)
c.3524A>G (p.His1175Arg)
n.357A>G
c.3569A>G (p.His1190Arg)
c.3566A>G (p.His1189Arg)
c.3557A>G (p.His1186Arg)
c.3551A>G (p.His1184Arg)
c.3542A>G (p.His1181Arg)
c.3539A>G (p.His1180Arg)
c.3509A>G (p.His1170Arg)
c.3479A>G (p.His1160Arg)
c.2774A>G (p.His925Arg)
c.2729A>G (p.His910Arg)
c.2702A>G (p.His901Arg)
c.2609A>G (p.His870Arg)
c.3482A>G (p.His1161Arg)
c.3521A>G (p.His1174Arg)
c.3437A>G (p.His1146Arg)
c.3467A>G (p.His1156Arg)
c.3545A>G (p.His1182Arg)
c.3536A>G (p.His1179Arg)
c.3497A>G (p.His1166Arg)
c.3596A>G (p.His1199Arg)
c.3593A>G (p.His1198Arg)
c.3584A>G (p.His1195Arg)
c.3578A>G (p.His1193Arg)
c.3575A>G (p.His1192Arg)
c.3533A>G (p.His1178Arg)
c.3530A>G (p.His1177Arg)
c.2636A>G (p.His879Arg)
ClinVar
2g.50091493T>GCA346819312NRXN1c.3548A>C (p.His1183Pro)
n.715A>C
c.435A>C (n.435A>C)
c.443A>C (p.His148Pro)
c.3668A>C (p.His1223Pro)
c.3512A>C (p.His1171Pro)
c.-290A>C (n.-290A>C)
c.3524A>C (p.His1175Pro)
n.357A>C
c.3569A>C (p.His1190Pro)
c.3566A>C (p.His1189Pro)
c.3557A>C (p.His1186Pro)
c.3551A>C (p.His1184Pro)
c.3542A>C (p.His1181Pro)
c.3539A>C (p.His1180Pro)
c.3509A>C (p.His1170Pro)
c.3479A>C (p.His1160Pro)
c.2774A>C (p.His925Pro)
c.2729A>C (p.His910Pro)
c.2702A>C (p.His901Pro)
c.2609A>C (p.His870Pro)
c.3482A>C (p.His1161Pro)
c.3521A>C (p.His1174Pro)
c.3437A>C (p.His1146Pro)
c.3467A>C (p.His1156Pro)
c.3545A>C (p.His1182Pro)
c.3536A>C (p.His1179Pro)
c.3497A>C (p.His1166Pro)
c.3596A>C (p.His1199Pro)
c.3593A>C (p.His1198Pro)
c.3584A>C (p.His1195Pro)
c.3578A>C (p.His1193Pro)
c.3575A>C (p.His1192Pro)
c.3533A>C (p.His1178Pro)
c.3530A>C (p.His1177Pro)
c.2636A>C (p.His879Pro)
2g.50091494G>ACA346819315NRXN1c.3547C>T (p.His1183Tyr)
n.714C>T
c.434C>T (n.434C>T)
c.442C>T (p.His148Tyr)
c.3667C>T (p.His1223Tyr)
c.3511C>T (p.His1171Tyr)
c.-291C>T (n.-291C>T)
c.3523C>T (p.His1175Tyr)
n.356C>T
c.3568C>T (p.His1190Tyr)
c.3565C>T (p.His1189Tyr)
c.3556C>T (p.His1186Tyr)
c.3550C>T (p.His1184Tyr)
c.3541C>T (p.His1181Tyr)
c.3538C>T (p.His1180Tyr)
c.3508C>T (p.His1170Tyr)
c.3478C>T (p.His1160Tyr)
c.2773C>T (p.His925Tyr)
c.2728C>T (p.His910Tyr)
c.2701C>T (p.His901Tyr)
c.2608C>T (p.His870Tyr)
c.3481C>T (p.His1161Tyr)
c.3520C>T (p.His1174Tyr)
c.3436C>T (p.His1146Tyr)
c.3466C>T (p.His1156Tyr)
c.3544C>T (p.His1182Tyr)
c.3535C>T (p.His1179Tyr)
c.3496C>T (p.His1166Tyr)
c.3595C>T (p.His1199Tyr)
c.3592C>T (p.His1198Tyr)
c.3583C>T (p.His1195Tyr)
c.3577C>T (p.His1193Tyr)
c.3574C>T (p.His1192Tyr)
c.3532C>T (p.His1178Tyr)
c.3529C>T (p.His1177Tyr)
c.2635C>T (p.His879Tyr)
2g.50091494G>CCA346819316NRXN1c.3547C>G (p.His1183Asp)
n.714C>G
c.434C>G (n.434C>G)
c.442C>G (p.His148Asp)
c.3667C>G (p.His1223Asp)
c.3511C>G (p.His1171Asp)
c.-291C>G (n.-291C>G)
c.3523C>G (p.His1175Asp)
n.356C>G
c.3568C>G (p.His1190Asp)
c.3565C>G (p.His1189Asp)
c.3556C>G (p.His1186Asp)
c.3550C>G (p.His1184Asp)
c.3541C>G (p.His1181Asp)
c.3538C>G (p.His1180Asp)
c.3508C>G (p.His1170Asp)
c.3478C>G (p.His1160Asp)
c.2773C>G (p.His925Asp)
c.2728C>G (p.His910Asp)
c.2701C>G (p.His901Asp)
c.2608C>G (p.His870Asp)
c.3481C>G (p.His1161Asp)
c.3520C>G (p.His1174Asp)
c.3436C>G (p.His1146Asp)
c.3466C>G (p.His1156Asp)
c.3544C>G (p.His1182Asp)
c.3535C>G (p.His1179Asp)
c.3496C>G (p.His1166Asp)
c.3595C>G (p.His1199Asp)
c.3592C>G (p.His1198Asp)
c.3583C>G (p.His1195Asp)
c.3577C>G (p.His1193Asp)
c.3574C>G (p.His1192Asp)
c.3532C>G (p.His1178Asp)
c.3529C>G (p.His1177Asp)
c.2635C>G (p.His879Asp)
2g.50091494G=CA1249373471NRXN1c.3547C= (p.His1183=)
n.714C=
c.434C= (n.434C=)
c.442C= (p.His148=)
c.3667C= (p.His1223=)
c.3511C= (p.His1171=)
c.-291C= (n.-291C=)
c.3523C= (p.His1175=)
n.356C=
c.3568C= (p.His1190=)
c.3565C= (p.His1189=)
c.3556C= (p.His1186=)
c.3550C= (p.His1184=)
c.3541C= (p.His1181=)
c.3538C= (p.His1180=)
c.3508C= (p.His1170=)
c.3478C= (p.His1160=)
c.2773C= (p.His925=)
c.2728C= (p.His910=)
c.2701C= (p.His901=)
c.2608C= (p.His870=)
c.3481C= (p.His1161=)
c.3520C= (p.His1174=)
c.3436C= (p.His1146=)
c.3466C= (p.His1156=)
c.3544C= (p.His1182=)
c.3535C= (p.His1179=)
c.3496C= (p.His1166=)
c.3595C= (p.His1199=)
c.3592C= (p.His1198=)
c.3583C= (p.His1195=)
c.3577C= (p.His1193=)
c.3574C= (p.His1192=)
c.3532C= (p.His1178=)
c.3529C= (p.His1177=)
c.2635C= (p.His879=)
2g.50091494G>TCA346819317NRXN1c.3547C>A (p.His1183Asn)
n.714C>A
c.434C>A (n.434C>A)
c.442C>A (p.His148Asn)
c.3667C>A (p.His1223Asn)
c.3511C>A (p.His1171Asn)
c.-291C>A (n.-291C>A)
c.3523C>A (p.His1175Asn)
n.356C>A
c.3568C>A (p.His1190Asn)
c.3565C>A (p.His1189Asn)
c.3556C>A (p.His1186Asn)
c.3550C>A (p.His1184Asn)
c.3541C>A (p.His1181Asn)
c.3538C>A (p.His1180Asn)
c.3508C>A (p.His1170Asn)
c.3478C>A (p.His1160Asn)
c.2773C>A (p.His925Asn)
c.2728C>A (p.His910Asn)
c.2701C>A (p.His901Asn)
c.2608C>A (p.His870Asn)
c.3481C>A (p.His1161Asn)
c.3520C>A (p.His1174Asn)
c.3436C>A (p.His1146Asn)
c.3466C>A (p.His1156Asn)
c.3544C>A (p.His1182Asn)
c.3535C>A (p.His1179Asn)
c.3496C>A (p.His1166Asn)
c.3595C>A (p.His1199Asn)
c.3592C>A (p.His1198Asn)
c.3583C>A (p.His1195Asn)
c.3577C>A (p.His1193Asn)
c.3574C>A (p.His1192Asn)
c.3532C>A (p.His1178Asn)
c.3529C>A (p.His1177Asn)
c.2635C>A (p.His879Asn)
ClinVar dbSNP
2g.50091495C>ACA346819318NRXN1c.3547-1G>T (n.3547-1G>T)
n.714-1G>T
c.434-1G>T (n.434-1G>T)
c.442-1G>T (n.442-1G>T)
c.3667-1G>T (n.3667-1G>T)
c.3511-1G>T (n.3511-1G>T)
c.-291-1G>T (n.-291-1G>T)
c.3523-1G>T (n.3523-1G>T)
n.356-1G>T
c.3568-1G>T (n.3568-1G>T)
c.3565-1G>T (n.3565-1G>T)
c.3556-1G>T (n.3556-1G>T)
c.3550-1G>T (n.3550-1G>T)
c.3541-1G>T (n.3541-1G>T)
c.3538-1G>T (n.3538-1G>T)
c.3508-1G>T (n.3508-1G>T)
c.3478-1G>T (n.3478-1G>T)
c.2773-1G>T (n.2773-1G>T)
c.2728-1G>T (n.2728-1G>T)
c.2701-1G>T (n.2701-1G>T)
c.2608-1G>T (n.2608-1G>T)
c.3481-1G>T (n.3481-1G>T)
c.3520-1G>T (n.3520-1G>T)
c.3436-1G>T (n.3436-1G>T)
c.3466-1G>T (n.3466-1G>T)
c.3544-1G>T (n.3544-1G>T)
c.3535-1G>T (n.3535-1G>T)
c.3496-1G>T (n.3496-1G>T)
c.3595-1G>T (n.3595-1G>T)
c.3592-1G>T (n.3592-1G>T)
c.3583-1G>T (n.3583-1G>T)
c.3577-1G>T (n.3577-1G>T)
c.3574-1G>T (n.3574-1G>T)
c.3532-1G>T (n.3532-1G>T)
c.3529-1G>T (n.3529-1G>T)
c.2635-1G>T (n.2635-1G>T)
2g.50091495C>GCA346819319NRXN1c.3547-1G>C (n.3547-1G>C)
n.714-1G>C
c.434-1G>C (n.434-1G>C)
c.442-1G>C (n.442-1G>C)
c.3667-1G>C (n.3667-1G>C)
c.3511-1G>C (n.3511-1G>C)
c.-291-1G>C (n.-291-1G>C)
c.3523-1G>C (n.3523-1G>C)
n.356-1G>C
c.3568-1G>C (n.3568-1G>C)
c.3565-1G>C (n.3565-1G>C)
c.3556-1G>C (n.3556-1G>C)
c.3550-1G>C (n.3550-1G>C)
c.3541-1G>C (n.3541-1G>C)
c.3538-1G>C (n.3538-1G>C)
c.3508-1G>C (n.3508-1G>C)
c.3478-1G>C (n.3478-1G>C)
c.2773-1G>C (n.2773-1G>C)
c.2728-1G>C (n.2728-1G>C)
c.2701-1G>C (n.2701-1G>C)
c.2608-1G>C (n.2608-1G>C)
c.3481-1G>C (n.3481-1G>C)
c.3520-1G>C (n.3520-1G>C)
c.3436-1G>C (n.3436-1G>C)
c.3466-1G>C (n.3466-1G>C)
c.3544-1G>C (n.3544-1G>C)
c.3535-1G>C (n.3535-1G>C)
c.3496-1G>C (n.3496-1G>C)
c.3595-1G>C (n.3595-1G>C)
c.3592-1G>C (n.3592-1G>C)
c.3583-1G>C (n.3583-1G>C)
c.3577-1G>C (n.3577-1G>C)
c.3574-1G>C (n.3574-1G>C)
c.3532-1G>C (n.3532-1G>C)
c.3529-1G>C (n.3529-1G>C)
c.2635-1G>C (n.2635-1G>C)
2g.50091495C>TCA346819320NRXN1c.3547-1G>A (n.3547-1G>A)
n.714-1G>A
c.434-1G>A (n.434-1G>A)
c.442-1G>A (n.442-1G>A)
c.3667-1G>A (n.3667-1G>A)
c.3511-1G>A (n.3511-1G>A)
c.-291-1G>A (n.-291-1G>A)
c.3523-1G>A (n.3523-1G>A)
n.356-1G>A
c.3568-1G>A (n.3568-1G>A)
c.3565-1G>A (n.3565-1G>A)
c.3556-1G>A (n.3556-1G>A)
c.3550-1G>A (n.3550-1G>A)
c.3541-1G>A (n.3541-1G>A)
c.3538-1G>A (n.3538-1G>A)
c.3508-1G>A (n.3508-1G>A)
c.3478-1G>A (n.3478-1G>A)
c.2773-1G>A (n.2773-1G>A)
c.2728-1G>A (n.2728-1G>A)
c.2701-1G>A (n.2701-1G>A)
c.2608-1G>A (n.2608-1G>A)
c.3481-1G>A (n.3481-1G>A)
c.3520-1G>A (n.3520-1G>A)
c.3436-1G>A (n.3436-1G>A)
c.3466-1G>A (n.3466-1G>A)
c.3544-1G>A (n.3544-1G>A)
c.3535-1G>A (n.3535-1G>A)
c.3496-1G>A (n.3496-1G>A)
c.3595-1G>A (n.3595-1G>A)
c.3592-1G>A (n.3592-1G>A)
c.3583-1G>A (n.3583-1G>A)
c.3577-1G>A (n.3577-1G>A)
c.3574-1G>A (n.3574-1G>A)
c.3532-1G>A (n.3532-1G>A)
c.3529-1G>A (n.3529-1G>A)
c.2635-1G>A (n.2635-1G>A)
2g.50091496T>ACA346819321NRXN1c.3547-2A>T (n.3547-2A>T)
n.714-2A>T
c.434-2A>T (n.434-2A>T)
c.442-2A>T (n.442-2A>T)
c.3667-2A>T (n.3667-2A>T)
c.3511-2A>T (n.3511-2A>T)
c.-291-2A>T (n.-291-2A>T)
c.3523-2A>T (n.3523-2A>T)
n.356-2A>T
c.3568-2A>T (n.3568-2A>T)
c.3565-2A>T (n.3565-2A>T)
c.3556-2A>T (n.3556-2A>T)
c.3550-2A>T (n.3550-2A>T)
c.3541-2A>T (n.3541-2A>T)
c.3538-2A>T (n.3538-2A>T)
c.3508-2A>T (n.3508-2A>T)
c.3478-2A>T (n.3478-2A>T)
c.2773-2A>T (n.2773-2A>T)
c.2728-2A>T (n.2728-2A>T)
c.2701-2A>T (n.2701-2A>T)
c.2608-2A>T (n.2608-2A>T)
c.3481-2A>T (n.3481-2A>T)
c.3520-2A>T (n.3520-2A>T)
c.3436-2A>T (n.3436-2A>T)
c.3466-2A>T (n.3466-2A>T)
c.3544-2A>T (n.3544-2A>T)
c.3535-2A>T (n.3535-2A>T)
c.3496-2A>T (n.3496-2A>T)
c.3595-2A>T (n.3595-2A>T)
c.3592-2A>T (n.3592-2A>T)
c.3583-2A>T (n.3583-2A>T)
c.3577-2A>T (n.3577-2A>T)
c.3574-2A>T (n.3574-2A>T)
c.3532-2A>T (n.3532-2A>T)
c.3529-2A>T (n.3529-2A>T)
c.2635-2A>T (n.2635-2A>T)
2g.50091496T>CCA16604600NRXN1c.3547-2A>G (n.3547-2A>G)
n.714-2A>G
c.434-2A>G (n.434-2A>G)
c.442-2A>G (n.442-2A>G)
c.3667-2A>G (n.3667-2A>G)
c.3511-2A>G (n.3511-2A>G)
c.-291-2A>G (n.-291-2A>G)
c.3523-2A>G (n.3523-2A>G)
n.356-2A>G
c.3568-2A>G (n.3568-2A>G)
c.3565-2A>G (n.3565-2A>G)
c.3556-2A>G (n.3556-2A>G)
c.3550-2A>G (n.3550-2A>G)
c.3541-2A>G (n.3541-2A>G)
c.3538-2A>G (n.3538-2A>G)
c.3508-2A>G (n.3508-2A>G)
c.3478-2A>G (n.3478-2A>G)
c.2773-2A>G (n.2773-2A>G)
c.2728-2A>G (n.2728-2A>G)
c.2701-2A>G (n.2701-2A>G)
c.2608-2A>G (n.2608-2A>G)
c.3481-2A>G (n.3481-2A>G)
c.3520-2A>G (n.3520-2A>G)
c.3436-2A>G (n.3436-2A>G)
c.3466-2A>G (n.3466-2A>G)
c.3544-2A>G (n.3544-2A>G)
c.3535-2A>G (n.3535-2A>G)
c.3496-2A>G (n.3496-2A>G)
c.3595-2A>G (n.3595-2A>G)
c.3592-2A>G (n.3592-2A>G)
c.3583-2A>G (n.3583-2A>G)
c.3577-2A>G (n.3577-2A>G)
c.3574-2A>G (n.3574-2A>G)
c.3532-2A>G (n.3532-2A>G)
c.3529-2A>G (n.3529-2A>G)
c.2635-2A>G (n.2635-2A>G)
ClinVar dbSNP
2g.50091496T>GCA346819322NRXN1c.3547-2A>C (n.3547-2A>C)
n.714-2A>C
c.434-2A>C (n.434-2A>C)
c.442-2A>C (n.442-2A>C)
c.3667-2A>C (n.3667-2A>C)
c.3511-2A>C (n.3511-2A>C)
c.-291-2A>C (n.-291-2A>C)
c.3523-2A>C (n.3523-2A>C)
n.356-2A>C
c.3568-2A>C (n.3568-2A>C)
c.3565-2A>C (n.3565-2A>C)
c.3556-2A>C (n.3556-2A>C)
c.3550-2A>C (n.3550-2A>C)
c.3541-2A>C (n.3541-2A>C)
c.3538-2A>C (n.3538-2A>C)
c.3508-2A>C (n.3508-2A>C)
c.3478-2A>C (n.3478-2A>C)
c.2773-2A>C (n.2773-2A>C)
c.2728-2A>C (n.2728-2A>C)
c.2701-2A>C (n.2701-2A>C)
c.2608-2A>C (n.2608-2A>C)
c.3481-2A>C (n.3481-2A>C)
c.3520-2A>C (n.3520-2A>C)
c.3436-2A>C (n.3436-2A>C)
c.3466-2A>C (n.3466-2A>C)
c.3544-2A>C (n.3544-2A>C)
c.3535-2A>C (n.3535-2A>C)
c.3496-2A>C (n.3496-2A>C)
c.3595-2A>C (n.3595-2A>C)
c.3592-2A>C (n.3592-2A>C)
c.3583-2A>C (n.3583-2A>C)
c.3577-2A>C (n.3577-2A>C)
c.3574-2A>C (n.3574-2A>C)
c.3532-2A>C (n.3532-2A>C)
c.3529-2A>C (n.3529-2A>C)
c.2635-2A>C (n.2635-2A>C)
2g.50091496T=CA1249373472NRXN1c.3547-2A= (n.3547-2A=)
n.714-2A=
c.434-2A= (n.434-2A=)
c.442-2A= (n.442-2A=)
c.3667-2A= (n.3667-2A=)
c.3511-2A= (n.3511-2A=)
c.-291-2A= (n.-291-2A=)
c.3523-2A= (n.3523-2A=)
n.356-2A=
c.3568-2A= (n.3568-2A=)
c.3565-2A= (n.3565-2A=)
c.3556-2A= (n.3556-2A=)
c.3550-2A= (n.3550-2A=)
c.3541-2A= (n.3541-2A=)
c.3538-2A= (n.3538-2A=)
c.3508-2A= (n.3508-2A=)
c.3478-2A= (n.3478-2A=)
c.2773-2A= (n.2773-2A=)
c.2728-2A= (n.2728-2A=)
c.2701-2A= (n.2701-2A=)
c.2608-2A= (n.2608-2A=)
c.3481-2A= (n.3481-2A=)
c.3520-2A= (n.3520-2A=)
c.3436-2A= (n.3436-2A=)
c.3466-2A= (n.3466-2A=)
c.3544-2A= (n.3544-2A=)
c.3535-2A= (n.3535-2A=)
c.3496-2A= (n.3496-2A=)
c.3595-2A= (n.3595-2A=)
c.3592-2A= (n.3592-2A=)
c.3583-2A= (n.3583-2A=)
c.3577-2A= (n.3577-2A=)
c.3574-2A= (n.3574-2A=)
c.3532-2A= (n.3532-2A=)
c.3529-2A= (n.3529-2A=)
c.2635-2A= (n.2635-2A=)
2g.50091497G>ACA1654421NRXN1c.3547-3C>T (n.3547-3C>T)
n.714-3C>T
c.434-3C>T (n.434-3C>T)
c.442-3C>T (n.442-3C>T)
c.3667-3C>T (n.3667-3C>T)
c.3511-3C>T (n.3511-3C>T)
c.-291-3C>T (n.-291-3C>T)
c.3523-3C>T (n.3523-3C>T)
n.356-3C>T
c.3568-3C>T (n.3568-3C>T)
c.3565-3C>T (n.3565-3C>T)
c.3556-3C>T (n.3556-3C>T)
c.3550-3C>T (n.3550-3C>T)
c.3541-3C>T (n.3541-3C>T)
c.3538-3C>T (n.3538-3C>T)
c.3508-3C>T (n.3508-3C>T)
c.3478-3C>T (n.3478-3C>T)
c.2773-3C>T (n.2773-3C>T)
c.2728-3C>T (n.2728-3C>T)
c.2701-3C>T (n.2701-3C>T)
c.2608-3C>T (n.2608-3C>T)
c.3481-3C>T (n.3481-3C>T)
c.3520-3C>T (n.3520-3C>T)
c.3436-3C>T (n.3436-3C>T)
c.3466-3C>T (n.3466-3C>T)
c.3544-3C>T (n.3544-3C>T)
c.3535-3C>T (n.3535-3C>T)
c.3496-3C>T (n.3496-3C>T)
c.3595-3C>T (n.3595-3C>T)
c.3592-3C>T (n.3592-3C>T)
c.3583-3C>T (n.3583-3C>T)
c.3577-3C>T (n.3577-3C>T)
c.3574-3C>T (n.3574-3C>T)
c.3532-3C>T (n.3532-3C>T)
c.3529-3C>T (n.3529-3C>T)
c.2635-3C>T (n.2635-3C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.50091497G=CA1249373473NRXN1c.3547-3C= (n.3547-3C=)
n.714-3C=
c.434-3C= (n.434-3C=)
c.442-3C= (n.442-3C=)
c.3667-3C= (n.3667-3C=)
c.3511-3C= (n.3511-3C=)
c.-291-3C= (n.-291-3C=)
c.3523-3C= (n.3523-3C=)
n.356-3C=
c.3568-3C= (n.3568-3C=)
c.3565-3C= (n.3565-3C=)
c.3556-3C= (n.3556-3C=)
c.3550-3C= (n.3550-3C=)
c.3541-3C= (n.3541-3C=)
c.3538-3C= (n.3538-3C=)
c.3508-3C= (n.3508-3C=)
c.3478-3C= (n.3478-3C=)
c.2773-3C= (n.2773-3C=)
c.2728-3C= (n.2728-3C=)
c.2701-3C= (n.2701-3C=)
c.2608-3C= (n.2608-3C=)
c.3481-3C= (n.3481-3C=)
c.3520-3C= (n.3520-3C=)
c.3436-3C= (n.3436-3C=)
c.3466-3C= (n.3466-3C=)
c.3544-3C= (n.3544-3C=)
c.3535-3C= (n.3535-3C=)
c.3496-3C= (n.3496-3C=)
c.3595-3C= (n.3595-3C=)
c.3592-3C= (n.3592-3C=)
c.3583-3C= (n.3583-3C=)
c.3577-3C= (n.3577-3C=)
c.3574-3C= (n.3574-3C=)
c.3532-3C= (n.3532-3C=)
c.3529-3C= (n.3529-3C=)
c.2635-3C= (n.2635-3C=)
2g.50091498T>CCA1249373475NRXN1c.3547-4A>G (n.3547-4A>G)
n.714-4A>G
c.434-4A>G (n.434-4A>G)
c.442-4A>G (n.442-4A>G)
c.3667-4A>G (n.3667-4A>G)
c.3511-4A>G (n.3511-4A>G)
c.-291-4A>G (n.-291-4A>G)
c.3523-4A>G (n.3523-4A>G)
n.356-4A>G
c.3568-4A>G (n.3568-4A>G)
c.3565-4A>G (n.3565-4A>G)
c.3556-4A>G (n.3556-4A>G)
c.3550-4A>G (n.3550-4A>G)
c.3541-4A>G (n.3541-4A>G)
c.3538-4A>G (n.3538-4A>G)
c.3508-4A>G (n.3508-4A>G)
c.3478-4A>G (n.3478-4A>G)
c.2773-4A>G (n.2773-4A>G)
c.2728-4A>G (n.2728-4A>G)
c.2701-4A>G (n.2701-4A>G)
c.2608-4A>G (n.2608-4A>G)
c.3481-4A>G (n.3481-4A>G)
c.3520-4A>G (n.3520-4A>G)
c.3436-4A>G (n.3436-4A>G)
c.3466-4A>G (n.3466-4A>G)
c.3544-4A>G (n.3544-4A>G)
c.3535-4A>G (n.3535-4A>G)
c.3496-4A>G (n.3496-4A>G)
c.3595-4A>G (n.3595-4A>G)
c.3592-4A>G (n.3592-4A>G)
c.3583-4A>G (n.3583-4A>G)
c.3577-4A>G (n.3577-4A>G)
c.3574-4A>G (n.3574-4A>G)
c.3532-4A>G (n.3532-4A>G)
c.3529-4A>G (n.3529-4A>G)
c.2635-4A>G (n.2635-4A>G)
dbSNP gnomAD v4
2g.50091498T=CA1249373474NRXN1c.3547-4A= (n.3547-4A=)
n.714-4A=
c.434-4A= (n.434-4A=)
c.442-4A= (n.442-4A=)
c.3667-4A= (n.3667-4A=)
c.3511-4A= (n.3511-4A=)
c.-291-4A= (n.-291-4A=)
c.3523-4A= (n.3523-4A=)
n.356-4A=
c.3568-4A= (n.3568-4A=)
c.3565-4A= (n.3565-4A=)
c.3556-4A= (n.3556-4A=)
c.3550-4A= (n.3550-4A=)
c.3541-4A= (n.3541-4A=)
c.3538-4A= (n.3538-4A=)
c.3508-4A= (n.3508-4A=)
c.3478-4A= (n.3478-4A=)
c.2773-4A= (n.2773-4A=)
c.2728-4A= (n.2728-4A=)
c.2701-4A= (n.2701-4A=)
c.2608-4A= (n.2608-4A=)
c.3481-4A= (n.3481-4A=)
c.3520-4A= (n.3520-4A=)
c.3436-4A= (n.3436-4A=)
c.3466-4A= (n.3466-4A=)
c.3544-4A= (n.3544-4A=)
c.3535-4A= (n.3535-4A=)
c.3496-4A= (n.3496-4A=)
c.3595-4A= (n.3595-4A=)
c.3592-4A= (n.3592-4A=)
c.3583-4A= (n.3583-4A=)
c.3577-4A= (n.3577-4A=)
c.3574-4A= (n.3574-4A=)
c.3532-4A= (n.3532-4A=)
c.3529-4A= (n.3529-4A=)
c.2635-4A= (n.2635-4A=)
2g.50091498_50091499delinsTACA1249373476NRXN1c.3547-5_3547-4delinsTA (n.3547-5_3547-4delinsTA)
n.714-5_714-4delinsTA
c.434-5_434-4delinsTA (n.434-5_434-4delinsTA)
c.442-5_442-4delinsTA (n.442-5_442-4delinsTA)
c.3667-5_3667-4delinsTA (n.3667-5_3667-4delinsTA)
c.3511-5_3511-4delinsTA (n.3511-5_3511-4delinsTA)
c.-291-5_-291-4delinsTA (n.-291-5_-291-4delinsTA)
c.3523-5_3523-4delinsTA (n.3523-5_3523-4delinsTA)
n.356-5_356-4delinsTA
c.3568-5_3568-4delinsTA (n.3568-5_3568-4delinsTA)
c.3565-5_3565-4delinsTA (n.3565-5_3565-4delinsTA)
c.3556-5_3556-4delinsTA (n.3556-5_3556-4delinsTA)
c.3550-5_3550-4delinsTA (n.3550-5_3550-4delinsTA)
c.3541-5_3541-4delinsTA (n.3541-5_3541-4delinsTA)
c.3538-5_3538-4delinsTA (n.3538-5_3538-4delinsTA)
c.3508-5_3508-4delinsTA (n.3508-5_3508-4delinsTA)
c.3478-5_3478-4delinsTA (n.3478-5_3478-4delinsTA)
c.2773-5_2773-4delinsTA (n.2773-5_2773-4delinsTA)
c.2728-5_2728-4delinsTA (n.2728-5_2728-4delinsTA)
c.2701-5_2701-4delinsTA (n.2701-5_2701-4delinsTA)
c.2608-5_2608-4delinsTA (n.2608-5_2608-4delinsTA)
c.3481-5_3481-4delinsTA (n.3481-5_3481-4delinsTA)
c.3520-5_3520-4delinsTA (n.3520-5_3520-4delinsTA)
c.3436-5_3436-4delinsTA (n.3436-5_3436-4delinsTA)
c.3466-5_3466-4delinsTA (n.3466-5_3466-4delinsTA)
c.3544-5_3544-4delinsTA (n.3544-5_3544-4delinsTA)
c.3535-5_3535-4delinsTA (n.3535-5_3535-4delinsTA)
c.3496-5_3496-4delinsTA (n.3496-5_3496-4delinsTA)
c.3595-5_3595-4delinsTA (n.3595-5_3595-4delinsTA)
c.3592-5_3592-4delinsTA (n.3592-5_3592-4delinsTA)
c.3583-5_3583-4delinsTA (n.3583-5_3583-4delinsTA)
c.3577-5_3577-4delinsTA (n.3577-5_3577-4delinsTA)
c.3574-5_3574-4delinsTA (n.3574-5_3574-4delinsTA)
c.3532-5_3532-4delinsTA (n.3532-5_3532-4delinsTA)
c.3529-5_3529-4delinsTA (n.3529-5_3529-4delinsTA)
c.2635-5_2635-4delinsTA (n.2635-5_2635-4delinsTA)
2g.50091500delCA1249373477NRXN1c.3547-5del (n.3547-5del)
n.714-5del
c.434-5del (n.434-5del)
c.442-5del (n.442-5del)
c.3667-5del (n.3667-5del)
c.3511-5del (n.3511-5del)
c.-291-5del (n.-291-5del)
c.3523-5del (n.3523-5del)
n.356-5del
c.3568-5del (n.3568-5del)
c.3565-5del (n.3565-5del)
c.3556-5del (n.3556-5del)
c.3550-5del (n.3550-5del)
c.3541-5del (n.3541-5del)
c.3538-5del (n.3538-5del)
c.3508-5del (n.3508-5del)
c.3478-5del (n.3478-5del)
c.2773-5del (n.2773-5del)
c.2728-5del (n.2728-5del)
c.2701-5del (n.2701-5del)
c.2608-5del (n.2608-5del)
c.3481-5del (n.3481-5del)
c.3520-5del (n.3520-5del)
c.3436-5del (n.3436-5del)
c.3466-5del (n.3466-5del)
c.3544-5del (n.3544-5del)
c.3535-5del (n.3535-5del)
c.3496-5del (n.3496-5del)
c.3595-5del (n.3595-5del)
c.3592-5del (n.3592-5del)
c.3583-5del (n.3583-5del)
c.3577-5del (n.3577-5del)
c.3574-5del (n.3574-5del)
c.3532-5del (n.3532-5del)
c.3529-5del (n.3529-5del)
c.2635-5del (n.2635-5del)
ClinVar dbSNP
2g.50091500_50091505delinsAGAGAGCA1249373478NRXN1c.3547-11_3547-6delinsCTCTCT (n.3547-11_3547-6delinsCTCTCT)
n.714-11_714-6delinsCTCTCT
c.434-11_434-6delinsCTCTCT (n.434-11_434-6delinsCTCTCT)
c.442-11_442-6delinsCTCTCT (n.442-11_442-6delinsCTCTCT)
c.3667-11_3667-6delinsCTCTCT (n.3667-11_3667-6delinsCTCTCT)
c.3511-11_3511-6delinsCTCTCT (n.3511-11_3511-6delinsCTCTCT)
c.-291-11_-291-6delinsCTCTCT (n.-291-11_-291-6delinsCTCTCT)
c.3523-11_3523-6delinsCTCTCT (n.3523-11_3523-6delinsCTCTCT)
n.356-11_356-6delinsCTCTCT
c.3568-11_3568-6delinsCTCTCT (n.3568-11_3568-6delinsCTCTCT)
c.3565-11_3565-6delinsCTCTCT (n.3565-11_3565-6delinsCTCTCT)
c.3556-11_3556-6delinsCTCTCT (n.3556-11_3556-6delinsCTCTCT)
c.3550-11_3550-6delinsCTCTCT (n.3550-11_3550-6delinsCTCTCT)
c.3541-11_3541-6delinsCTCTCT (n.3541-11_3541-6delinsCTCTCT)
c.3538-11_3538-6delinsCTCTCT (n.3538-11_3538-6delinsCTCTCT)
c.3508-11_3508-6delinsCTCTCT (n.3508-11_3508-6delinsCTCTCT)
c.3478-11_3478-6delinsCTCTCT (n.3478-11_3478-6delinsCTCTCT)
c.2773-11_2773-6delinsCTCTCT (n.2773-11_2773-6delinsCTCTCT)
c.2728-11_2728-6delinsCTCTCT (n.2728-11_2728-6delinsCTCTCT)
c.2701-11_2701-6delinsCTCTCT (n.2701-11_2701-6delinsCTCTCT)
c.2608-11_2608-6delinsCTCTCT (n.2608-11_2608-6delinsCTCTCT)
c.3481-11_3481-6delinsCTCTCT (n.3481-11_3481-6delinsCTCTCT)
c.3520-11_3520-6delinsCTCTCT (n.3520-11_3520-6delinsCTCTCT)
c.3436-11_3436-6delinsCTCTCT (n.3436-11_3436-6delinsCTCTCT)
c.3466-11_3466-6delinsCTCTCT (n.3466-11_3466-6delinsCTCTCT)
c.3544-11_3544-6delinsCTCTCT (n.3544-11_3544-6delinsCTCTCT)
c.3535-11_3535-6delinsCTCTCT (n.3535-11_3535-6delinsCTCTCT)
c.3496-11_3496-6delinsCTCTCT (n.3496-11_3496-6delinsCTCTCT)
c.3595-11_3595-6delinsCTCTCT (n.3595-11_3595-6delinsCTCTCT)
c.3592-11_3592-6delinsCTCTCT (n.3592-11_3592-6delinsCTCTCT)
c.3583-11_3583-6delinsCTCTCT (n.3583-11_3583-6delinsCTCTCT)
c.3577-11_3577-6delinsCTCTCT (n.3577-11_3577-6delinsCTCTCT)
c.3574-11_3574-6delinsCTCTCT (n.3574-11_3574-6delinsCTCTCT)
c.3532-11_3532-6delinsCTCTCT (n.3532-11_3532-6delinsCTCTCT)
c.3529-11_3529-6delinsCTCTCT (n.3529-11_3529-6delinsCTCTCT)
c.2635-11_2635-6delinsCTCTCT (n.2635-11_2635-6delinsCTCTCT)
2g.50091501G>ACA2576964402NRXN1c.3547-7C>T (n.3547-7C>T)
n.714-7C>T
c.434-7C>T (n.434-7C>T)
c.442-7C>T (n.442-7C>T)
c.3667-7C>T (n.3667-7C>T)
c.3511-7C>T (n.3511-7C>T)
c.-291-7C>T (n.-291-7C>T)
c.3523-7C>T (n.3523-7C>T)
n.356-7C>T
c.3568-7C>T (n.3568-7C>T)
c.3565-7C>T (n.3565-7C>T)
c.3556-7C>T (n.3556-7C>T)
c.3550-7C>T (n.3550-7C>T)
c.3541-7C>T (n.3541-7C>T)
c.3538-7C>T (n.3538-7C>T)
c.3508-7C>T (n.3508-7C>T)
c.3478-7C>T (n.3478-7C>T)
c.2773-7C>T (n.2773-7C>T)
c.2728-7C>T (n.2728-7C>T)
c.2701-7C>T (n.2701-7C>T)
c.2608-7C>T (n.2608-7C>T)
c.3481-7C>T (n.3481-7C>T)
c.3520-7C>T (n.3520-7C>T)
c.3436-7C>T (n.3436-7C>T)
c.3466-7C>T (n.3466-7C>T)
c.3544-7C>T (n.3544-7C>T)
c.3535-7C>T (n.3535-7C>T)
c.3496-7C>T (n.3496-7C>T)
c.3595-7C>T (n.3595-7C>T)
c.3592-7C>T (n.3592-7C>T)
c.3583-7C>T (n.3583-7C>T)
c.3577-7C>T (n.3577-7C>T)
c.3574-7C>T (n.3574-7C>T)
c.3532-7C>T (n.3532-7C>T)
c.3529-7C>T (n.3529-7C>T)
c.2635-7C>T (n.2635-7C>T)
2g.50091501G>CCA2659006353NRXN1c.3547-7C>G (n.3547-7C>G)
n.714-7C>G
c.434-7C>G (n.434-7C>G)
c.442-7C>G (n.442-7C>G)
c.3667-7C>G (n.3667-7C>G)
c.3511-7C>G (n.3511-7C>G)
c.-291-7C>G (n.-291-7C>G)
c.3523-7C>G (n.3523-7C>G)
n.356-7C>G
c.3568-7C>G (n.3568-7C>G)
c.3565-7C>G (n.3565-7C>G)
c.3556-7C>G (n.3556-7C>G)
c.3550-7C>G (n.3550-7C>G)
c.3541-7C>G (n.3541-7C>G)
c.3538-7C>G (n.3538-7C>G)
c.3508-7C>G (n.3508-7C>G)
c.3478-7C>G (n.3478-7C>G)
c.2773-7C>G (n.2773-7C>G)
c.2728-7C>G (n.2728-7C>G)
c.2701-7C>G (n.2701-7C>G)
c.2608-7C>G (n.2608-7C>G)
c.3481-7C>G (n.3481-7C>G)
c.3520-7C>G (n.3520-7C>G)
c.3436-7C>G (n.3436-7C>G)
c.3466-7C>G (n.3466-7C>G)
c.3544-7C>G (n.3544-7C>G)
c.3535-7C>G (n.3535-7C>G)
c.3496-7C>G (n.3496-7C>G)
c.3595-7C>G (n.3595-7C>G)
c.3592-7C>G (n.3592-7C>G)
c.3583-7C>G (n.3583-7C>G)
c.3577-7C>G (n.3577-7C>G)
c.3574-7C>G (n.3574-7C>G)
c.3532-7C>G (n.3532-7C>G)
c.3529-7C>G (n.3529-7C>G)
c.2635-7C>G (n.2635-7C>G)
gnomAD v4
2g.50091504_50091508delCA1654422NRXN1c.3547-11_3547-7del (n.3547-11_3547-7del)
n.714-11_714-7del
c.434-11_434-7del (n.434-11_434-7del)
c.442-11_442-7del (n.442-11_442-7del)
c.3667-11_3667-7del (n.3667-11_3667-7del)
c.3511-11_3511-7del (n.3511-11_3511-7del)
c.-291-11_-291-7del (n.-291-11_-291-7del)
c.3523-11_3523-7del (n.3523-11_3523-7del)
n.356-11_356-7del
c.3568-11_3568-7del (n.3568-11_3568-7del)
c.3565-11_3565-7del (n.3565-11_3565-7del)
c.3556-11_3556-7del (n.3556-11_3556-7del)
c.3550-11_3550-7del (n.3550-11_3550-7del)
c.3541-11_3541-7del (n.3541-11_3541-7del)
c.3538-11_3538-7del (n.3538-11_3538-7del)
c.3508-11_3508-7del (n.3508-11_3508-7del)
c.3478-11_3478-7del (n.3478-11_3478-7del)
c.2773-11_2773-7del (n.2773-11_2773-7del)
c.2728-11_2728-7del (n.2728-11_2728-7del)
c.2701-11_2701-7del (n.2701-11_2701-7del)
c.2608-11_2608-7del (n.2608-11_2608-7del)
c.3481-11_3481-7del (n.3481-11_3481-7del)
c.3520-11_3520-7del (n.3520-11_3520-7del)
c.3436-11_3436-7del (n.3436-11_3436-7del)
c.3466-11_3466-7del (n.3466-11_3466-7del)
c.3544-11_3544-7del (n.3544-11_3544-7del)
c.3535-11_3535-7del (n.3535-11_3535-7del)
c.3496-11_3496-7del (n.3496-11_3496-7del)
c.3595-11_3595-7del (n.3595-11_3595-7del)
c.3592-11_3592-7del (n.3592-11_3592-7del)
c.3583-11_3583-7del (n.3583-11_3583-7del)
c.3577-11_3577-7del (n.3577-11_3577-7del)
c.3574-11_3574-7del (n.3574-11_3574-7del)
c.3532-11_3532-7del (n.3532-11_3532-7del)
c.3529-11_3529-7del (n.3529-11_3529-7del)
c.2635-11_2635-7del (n.2635-11_2635-7del)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.50091503G>ACA532619380NRXN1c.3547-9C>T (n.3547-9C>T)
n.714-9C>T
c.434-9C>T (n.434-9C>T)
c.442-9C>T (n.442-9C>T)
c.3667-9C>T (n.3667-9C>T)
c.3511-9C>T (n.3511-9C>T)
c.-291-9C>T (n.-291-9C>T)
c.3523-9C>T (n.3523-9C>T)
n.356-9C>T
c.3568-9C>T (n.3568-9C>T)
c.3565-9C>T (n.3565-9C>T)
c.3556-9C>T (n.3556-9C>T)
c.3550-9C>T (n.3550-9C>T)
c.3541-9C>T (n.3541-9C>T)
c.3538-9C>T (n.3538-9C>T)
c.3508-9C>T (n.3508-9C>T)
c.3478-9C>T (n.3478-9C>T)
c.2773-9C>T (n.2773-9C>T)
c.2728-9C>T (n.2728-9C>T)
c.2701-9C>T (n.2701-9C>T)
c.2608-9C>T (n.2608-9C>T)
c.3481-9C>T (n.3481-9C>T)
c.3520-9C>T (n.3520-9C>T)
c.3436-9C>T (n.3436-9C>T)
c.3466-9C>T (n.3466-9C>T)
c.3544-9C>T (n.3544-9C>T)
c.3535-9C>T (n.3535-9C>T)
c.3496-9C>T (n.3496-9C>T)
c.3595-9C>T (n.3595-9C>T)
c.3592-9C>T (n.3592-9C>T)
c.3583-9C>T (n.3583-9C>T)
c.3577-9C>T (n.3577-9C>T)
c.3574-9C>T (n.3574-9C>T)
c.3532-9C>T (n.3532-9C>T)
c.3529-9C>T (n.3529-9C>T)
c.2635-9C>T (n.2635-9C>T)
dbSNP gnomAD v2 gnomAD v4
2g.50091503G=CA1249373479NRXN1c.3547-9C= (n.3547-9C=)
n.714-9C=
c.434-9C= (n.434-9C=)
c.442-9C= (n.442-9C=)
c.3667-9C= (n.3667-9C=)
c.3511-9C= (n.3511-9C=)
c.-291-9C= (n.-291-9C=)
c.3523-9C= (n.3523-9C=)
n.356-9C=
c.3568-9C= (n.3568-9C=)
c.3565-9C= (n.3565-9C=)
c.3556-9C= (n.3556-9C=)
c.3550-9C= (n.3550-9C=)
c.3541-9C= (n.3541-9C=)
c.3538-9C= (n.3538-9C=)
c.3508-9C= (n.3508-9C=)
c.3478-9C= (n.3478-9C=)
c.2773-9C= (n.2773-9C=)
c.2728-9C= (n.2728-9C=)
c.2701-9C= (n.2701-9C=)
c.2608-9C= (n.2608-9C=)
c.3481-9C= (n.3481-9C=)
c.3520-9C= (n.3520-9C=)
c.3436-9C= (n.3436-9C=)
c.3466-9C= (n.3466-9C=)
c.3544-9C= (n.3544-9C=)
c.3535-9C= (n.3535-9C=)
c.3496-9C= (n.3496-9C=)
c.3595-9C= (n.3595-9C=)
c.3592-9C= (n.3592-9C=)
c.3583-9C= (n.3583-9C=)
c.3577-9C= (n.3577-9C=)
c.3574-9C= (n.3574-9C=)
c.3532-9C= (n.3532-9C=)
c.3529-9C= (n.3529-9C=)
c.2635-9C= (n.2635-9C=)
2g.50091503G>TCA2576964403NRXN1c.3547-9C>A (n.3547-9C>A)
n.714-9C>A
c.434-9C>A (n.434-9C>A)
c.442-9C>A (n.442-9C>A)
c.3667-9C>A (n.3667-9C>A)
c.3511-9C>A (n.3511-9C>A)
c.-291-9C>A (n.-291-9C>A)
c.3523-9C>A (n.3523-9C>A)
n.356-9C>A
c.3568-9C>A (n.3568-9C>A)
c.3565-9C>A (n.3565-9C>A)
c.3556-9C>A (n.3556-9C>A)
c.3550-9C>A (n.3550-9C>A)
c.3541-9C>A (n.3541-9C>A)
c.3538-9C>A (n.3538-9C>A)
c.3508-9C>A (n.3508-9C>A)
c.3478-9C>A (n.3478-9C>A)
c.2773-9C>A (n.2773-9C>A)
c.2728-9C>A (n.2728-9C>A)
c.2701-9C>A (n.2701-9C>A)
c.2608-9C>A (n.2608-9C>A)
c.3481-9C>A (n.3481-9C>A)
c.3520-9C>A (n.3520-9C>A)
c.3436-9C>A (n.3436-9C>A)
c.3466-9C>A (n.3466-9C>A)
c.3544-9C>A (n.3544-9C>A)
c.3535-9C>A (n.3535-9C>A)
c.3496-9C>A (n.3496-9C>A)
c.3595-9C>A (n.3595-9C>A)
c.3592-9C>A (n.3592-9C>A)
c.3583-9C>A (n.3583-9C>A)
c.3577-9C>A (n.3577-9C>A)
c.3574-9C>A (n.3574-9C>A)
c.3532-9C>A (n.3532-9C>A)
c.3529-9C>A (n.3529-9C>A)
c.2635-9C>A (n.2635-9C>A)
2g.50091504A=CA1249373480NRXN1c.3547-10T= (n.3547-10T=)
n.714-10T=
c.434-10T= (n.434-10T=)
c.442-10T= (n.442-10T=)
c.3667-10T= (n.3667-10T=)
c.3511-10T= (n.3511-10T=)
c.-291-10T= (n.-291-10T=)
c.3523-10T= (n.3523-10T=)
n.356-10T=
c.3568-10T= (n.3568-10T=)
c.3565-10T= (n.3565-10T=)
c.3556-10T= (n.3556-10T=)
c.3550-10T= (n.3550-10T=)
c.3541-10T= (n.3541-10T=)
c.3538-10T= (n.3538-10T=)
c.3508-10T= (n.3508-10T=)
c.3478-10T= (n.3478-10T=)
c.2773-10T= (n.2773-10T=)
c.2728-10T= (n.2728-10T=)
c.2701-10T= (n.2701-10T=)
c.2608-10T= (n.2608-10T=)
c.3481-10T= (n.3481-10T=)
c.3520-10T= (n.3520-10T=)
c.3436-10T= (n.3436-10T=)
c.3466-10T= (n.3466-10T=)
c.3544-10T= (n.3544-10T=)
c.3535-10T= (n.3535-10T=)
c.3496-10T= (n.3496-10T=)
c.3595-10T= (n.3595-10T=)
c.3592-10T= (n.3592-10T=)
c.3583-10T= (n.3583-10T=)
c.3577-10T= (n.3577-10T=)
c.3574-10T= (n.3574-10T=)
c.3532-10T= (n.3532-10T=)
c.3529-10T= (n.3529-10T=)
c.2635-10T= (n.2635-10T=)
2g.50091504A>CCA1654423NRXN1c.3547-10T>G (n.3547-10T>G)
n.714-10T>G
c.434-10T>G (n.434-10T>G)
c.442-10T>G (n.442-10T>G)
c.3667-10T>G (n.3667-10T>G)
c.3511-10T>G (n.3511-10T>G)
c.-291-10T>G (n.-291-10T>G)
c.3523-10T>G (n.3523-10T>G)
n.356-10T>G
c.3568-10T>G (n.3568-10T>G)
c.3565-10T>G (n.3565-10T>G)
c.3556-10T>G (n.3556-10T>G)
c.3550-10T>G (n.3550-10T>G)
c.3541-10T>G (n.3541-10T>G)
c.3538-10T>G (n.3538-10T>G)
c.3508-10T>G (n.3508-10T>G)
c.3478-10T>G (n.3478-10T>G)
c.2773-10T>G (n.2773-10T>G)
c.2728-10T>G (n.2728-10T>G)
c.2701-10T>G (n.2701-10T>G)
c.2608-10T>G (n.2608-10T>G)
c.3481-10T>G (n.3481-10T>G)
c.3520-10T>G (n.3520-10T>G)
c.3436-10T>G (n.3436-10T>G)
c.3466-10T>G (n.3466-10T>G)
c.3544-10T>G (n.3544-10T>G)
c.3535-10T>G (n.3535-10T>G)
c.3496-10T>G (n.3496-10T>G)
c.3595-10T>G (n.3595-10T>G)
c.3592-10T>G (n.3592-10T>G)
c.3583-10T>G (n.3583-10T>G)
c.3577-10T>G (n.3577-10T>G)
c.3574-10T>G (n.3574-10T>G)
c.3532-10T>G (n.3532-10T>G)
c.3529-10T>G (n.3529-10T>G)
c.2635-10T>G (n.2635-10T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.50091505_50091511delCA532619381NRXN1c.3547-17_3547-11del (n.3547-17_3547-11del)
n.714-17_714-11del
c.434-17_434-11del (n.434-17_434-11del)
c.442-17_442-11del (n.442-17_442-11del)
c.3667-17_3667-11del (n.3667-17_3667-11del)
c.3511-17_3511-11del (n.3511-17_3511-11del)
c.-291-17_-291-11del (n.-291-17_-291-11del)
c.3523-17_3523-11del (n.3523-17_3523-11del)
n.356-17_356-11del
c.3568-17_3568-11del (n.3568-17_3568-11del)
c.3565-17_3565-11del (n.3565-17_3565-11del)
c.3556-17_3556-11del (n.3556-17_3556-11del)
c.3550-17_3550-11del (n.3550-17_3550-11del)
c.3541-17_3541-11del (n.3541-17_3541-11del)
c.3538-17_3538-11del (n.3538-17_3538-11del)
c.3508-17_3508-11del (n.3508-17_3508-11del)
c.3478-17_3478-11del (n.3478-17_3478-11del)
c.2773-17_2773-11del (n.2773-17_2773-11del)
c.2728-17_2728-11del (n.2728-17_2728-11del)
c.2701-17_2701-11del (n.2701-17_2701-11del)
c.2608-17_2608-11del (n.2608-17_2608-11del)
c.3481-17_3481-11del (n.3481-17_3481-11del)
c.3520-17_3520-11del (n.3520-17_3520-11del)
c.3436-17_3436-11del (n.3436-17_3436-11del)
c.3466-17_3466-11del (n.3466-17_3466-11del)
c.3544-17_3544-11del (n.3544-17_3544-11del)
c.3535-17_3535-11del (n.3535-17_3535-11del)
c.3496-17_3496-11del (n.3496-17_3496-11del)
c.3595-17_3595-11del (n.3595-17_3595-11del)
c.3592-17_3592-11del (n.3592-17_3592-11del)
c.3583-17_3583-11del (n.3583-17_3583-11del)
c.3577-17_3577-11del (n.3577-17_3577-11del)
c.3574-17_3574-11del (n.3574-17_3574-11del)
c.3532-17_3532-11del (n.3532-17_3532-11del)
c.3529-17_3529-11del (n.3529-17_3529-11del)
c.2635-17_2635-11del (n.2635-17_2635-11del)
gnomAD v2 gnomAD v4
2g.50091506G>ACA2659006354NRXN1c.3547-12C>T (n.3547-12C>T)
n.714-12C>T
c.434-12C>T (n.434-12C>T)
c.442-12C>T (n.442-12C>T)
c.3667-12C>T (n.3667-12C>T)
c.3511-12C>T (n.3511-12C>T)
c.-291-12C>T (n.-291-12C>T)
c.3523-12C>T (n.3523-12C>T)
n.356-12C>T
c.3568-12C>T (n.3568-12C>T)
c.3565-12C>T (n.3565-12C>T)
c.3556-12C>T (n.3556-12C>T)
c.3550-12C>T (n.3550-12C>T)
c.3541-12C>T (n.3541-12C>T)
c.3538-12C>T (n.3538-12C>T)
c.3508-12C>T (n.3508-12C>T)
c.3478-12C>T (n.3478-12C>T)
c.2773-12C>T (n.2773-12C>T)
c.2728-12C>T (n.2728-12C>T)
c.2701-12C>T (n.2701-12C>T)
c.2608-12C>T (n.2608-12C>T)
c.3481-12C>T (n.3481-12C>T)
c.3520-12C>T (n.3520-12C>T)
c.3436-12C>T (n.3436-12C>T)
c.3466-12C>T (n.3466-12C>T)
c.3544-12C>T (n.3544-12C>T)
c.3535-12C>T (n.3535-12C>T)
c.3496-12C>T (n.3496-12C>T)
c.3595-12C>T (n.3595-12C>T)
c.3592-12C>T (n.3592-12C>T)
c.3583-12C>T (n.3583-12C>T)
c.3577-12C>T (n.3577-12C>T)
c.3574-12C>T (n.3574-12C>T)
c.3532-12C>T (n.3532-12C>T)
c.3529-12C>T (n.3529-12C>T)
c.2635-12C>T (n.2635-12C>T)
gnomAD v4
2g.50091506G>CCA2659006355NRXN1c.3547-12C>G (n.3547-12C>G)
n.714-12C>G
c.434-12C>G (n.434-12C>G)
c.442-12C>G (n.442-12C>G)
c.3667-12C>G (n.3667-12C>G)
c.3511-12C>G (n.3511-12C>G)
c.-291-12C>G (n.-291-12C>G)
c.3523-12C>G (n.3523-12C>G)
n.356-12C>G
c.3568-12C>G (n.3568-12C>G)
c.3565-12C>G (n.3565-12C>G)
c.3556-12C>G (n.3556-12C>G)
c.3550-12C>G (n.3550-12C>G)
c.3541-12C>G (n.3541-12C>G)
c.3538-12C>G (n.3538-12C>G)
c.3508-12C>G (n.3508-12C>G)
c.3478-12C>G (n.3478-12C>G)
c.2773-12C>G (n.2773-12C>G)
c.2728-12C>G (n.2728-12C>G)
c.2701-12C>G (n.2701-12C>G)
c.2608-12C>G (n.2608-12C>G)
c.3481-12C>G (n.3481-12C>G)
c.3520-12C>G (n.3520-12C>G)
c.3436-12C>G (n.3436-12C>G)
c.3466-12C>G (n.3466-12C>G)
c.3544-12C>G (n.3544-12C>G)
c.3535-12C>G (n.3535-12C>G)
c.3496-12C>G (n.3496-12C>G)
c.3595-12C>G (n.3595-12C>G)
c.3592-12C>G (n.3592-12C>G)
c.3583-12C>G (n.3583-12C>G)
c.3577-12C>G (n.3577-12C>G)
c.3574-12C>G (n.3574-12C>G)
c.3532-12C>G (n.3532-12C>G)
c.3529-12C>G (n.3529-12C>G)
c.2635-12C>G (n.2635-12C>G)
gnomAD v4
2g.50091507A=CA1249373481NRXN1c.3547-13T= (n.3547-13T=)
n.714-13T=
c.434-13T= (n.434-13T=)
c.442-13T= (n.442-13T=)
c.3667-13T= (n.3667-13T=)
c.3511-13T= (n.3511-13T=)
c.-291-13T= (n.-291-13T=)
c.3523-13T= (n.3523-13T=)
n.356-13T=
c.3568-13T= (n.3568-13T=)
c.3565-13T= (n.3565-13T=)
c.3556-13T= (n.3556-13T=)
c.3550-13T= (n.3550-13T=)
c.3541-13T= (n.3541-13T=)
c.3538-13T= (n.3538-13T=)
c.3508-13T= (n.3508-13T=)
c.3478-13T= (n.3478-13T=)
c.2773-13T= (n.2773-13T=)
c.2728-13T= (n.2728-13T=)
c.2701-13T= (n.2701-13T=)
c.2608-13T= (n.2608-13T=)
c.3481-13T= (n.3481-13T=)
c.3520-13T= (n.3520-13T=)
c.3436-13T= (n.3436-13T=)
c.3466-13T= (n.3466-13T=)
c.3544-13T= (n.3544-13T=)
c.3535-13T= (n.3535-13T=)
c.3496-13T= (n.3496-13T=)
c.3595-13T= (n.3595-13T=)
c.3592-13T= (n.3592-13T=)
c.3583-13T= (n.3583-13T=)
c.3577-13T= (n.3577-13T=)
c.3574-13T= (n.3574-13T=)
c.3532-13T= (n.3532-13T=)
c.3529-13T= (n.3529-13T=)
c.2635-13T= (n.2635-13T=)
2g.50091507A>CCA1654424NRXN1c.3547-13T>G (n.3547-13T>G)
n.714-13T>G
c.434-13T>G (n.434-13T>G)
c.442-13T>G (n.442-13T>G)
c.3667-13T>G (n.3667-13T>G)
c.3511-13T>G (n.3511-13T>G)
c.-291-13T>G (n.-291-13T>G)
c.3523-13T>G (n.3523-13T>G)
n.356-13T>G
c.3568-13T>G (n.3568-13T>G)
c.3565-13T>G (n.3565-13T>G)
c.3556-13T>G (n.3556-13T>G)
c.3550-13T>G (n.3550-13T>G)
c.3541-13T>G (n.3541-13T>G)
c.3538-13T>G (n.3538-13T>G)
c.3508-13T>G (n.3508-13T>G)
c.3478-13T>G (n.3478-13T>G)
c.2773-13T>G (n.2773-13T>G)
c.2728-13T>G (n.2728-13T>G)
c.2701-13T>G (n.2701-13T>G)
c.2608-13T>G (n.2608-13T>G)
c.3481-13T>G (n.3481-13T>G)
c.3520-13T>G (n.3520-13T>G)
c.3436-13T>G (n.3436-13T>G)
c.3466-13T>G (n.3466-13T>G)
c.3544-13T>G (n.3544-13T>G)
c.3535-13T>G (n.3535-13T>G)
c.3496-13T>G (n.3496-13T>G)
c.3595-13T>G (n.3595-13T>G)
c.3592-13T>G (n.3592-13T>G)
c.3583-13T>G (n.3583-13T>G)
c.3577-13T>G (n.3577-13T>G)
c.3574-13T>G (n.3574-13T>G)
c.3532-13T>G (n.3532-13T>G)
c.3529-13T>G (n.3529-13T>G)
c.2635-13T>G (n.2635-13T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.50091507A>TCA2659006356NRXN1c.3547-13T>A (n.3547-13T>A)
n.714-13T>A
c.434-13T>A (n.434-13T>A)
c.442-13T>A (n.442-13T>A)
c.3667-13T>A (n.3667-13T>A)
c.3511-13T>A (n.3511-13T>A)
c.-291-13T>A (n.-291-13T>A)
c.3523-13T>A (n.3523-13T>A)
n.356-13T>A
c.3568-13T>A (n.3568-13T>A)
c.3565-13T>A (n.3565-13T>A)
c.3556-13T>A (n.3556-13T>A)
c.3550-13T>A (n.3550-13T>A)
c.3541-13T>A (n.3541-13T>A)
c.3538-13T>A (n.3538-13T>A)
c.3508-13T>A (n.3508-13T>A)
c.3478-13T>A (n.3478-13T>A)
c.2773-13T>A (n.2773-13T>A)
c.2728-13T>A (n.2728-13T>A)
c.2701-13T>A (n.2701-13T>A)
c.2608-13T>A (n.2608-13T>A)
c.3481-13T>A (n.3481-13T>A)
c.3520-13T>A (n.3520-13T>A)
c.3436-13T>A (n.3436-13T>A)
c.3466-13T>A (n.3466-13T>A)
c.3544-13T>A (n.3544-13T>A)
c.3535-13T>A (n.3535-13T>A)
c.3496-13T>A (n.3496-13T>A)
c.3595-13T>A (n.3595-13T>A)
c.3592-13T>A (n.3592-13T>A)
c.3583-13T>A (n.3583-13T>A)
c.3577-13T>A (n.3577-13T>A)
c.3574-13T>A (n.3574-13T>A)
c.3532-13T>A (n.3532-13T>A)
c.3529-13T>A (n.3529-13T>A)
c.2635-13T>A (n.2635-13T>A)
gnomAD v4

Number of alleles fetched