Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.50091406T>A | CA346819118 | NRXN1 | c.3635A>T (p.Tyr1212Phe) n.802A>T c.522A>T (n.522A>T) c.530A>T (p.Tyr177Phe) c.3755A>T (p.Tyr1252Phe) c.3599A>T (p.Tyr1200Phe) c.-203A>T (n.-203A>T) c.3611A>T (p.Tyr1204Phe) n.444A>T c.3656A>T (p.Tyr1219Phe) c.3653A>T (p.Tyr1218Phe) c.3644A>T (p.Tyr1215Phe) c.3638A>T (p.Tyr1213Phe) c.3629A>T (p.Tyr1210Phe) c.3626A>T (p.Tyr1209Phe) c.3596A>T (p.Tyr1199Phe) c.3566A>T (p.Tyr1189Phe) c.2861A>T (p.Tyr954Phe) c.2816A>T (p.Tyr939Phe) c.2789A>T (p.Tyr930Phe) c.2696A>T (p.Tyr899Phe) c.3569A>T (p.Tyr1190Phe) c.3608A>T (p.Tyr1203Phe) c.3524A>T (p.Tyr1175Phe) c.3554A>T (p.Tyr1185Phe) c.3632A>T (p.Tyr1211Phe) c.3623A>T (p.Tyr1208Phe) c.3584A>T (p.Tyr1195Phe) c.3683A>T (p.Tyr1228Phe) c.3680A>T (p.Tyr1227Phe) c.3671A>T (p.Tyr1224Phe) c.3665A>T (p.Tyr1222Phe) c.3662A>T (p.Tyr1221Phe) c.3620A>T (p.Tyr1207Phe) c.3617A>T (p.Tyr1206Phe) c.2723A>T (p.Tyr908Phe) | |
2 | g.50091406T>C | CA346819119 | NRXN1 | c.3635A>G (p.Tyr1212Cys) n.802A>G c.522A>G (n.522A>G) c.530A>G (p.Tyr177Cys) c.3755A>G (p.Tyr1252Cys) c.3599A>G (p.Tyr1200Cys) c.-203A>G (n.-203A>G) c.3611A>G (p.Tyr1204Cys) n.444A>G c.3656A>G (p.Tyr1219Cys) c.3653A>G (p.Tyr1218Cys) c.3644A>G (p.Tyr1215Cys) c.3638A>G (p.Tyr1213Cys) c.3629A>G (p.Tyr1210Cys) c.3626A>G (p.Tyr1209Cys) c.3596A>G (p.Tyr1199Cys) c.3566A>G (p.Tyr1189Cys) c.2861A>G (p.Tyr954Cys) c.2816A>G (p.Tyr939Cys) c.2789A>G (p.Tyr930Cys) c.2696A>G (p.Tyr899Cys) c.3569A>G (p.Tyr1190Cys) c.3608A>G (p.Tyr1203Cys) c.3524A>G (p.Tyr1175Cys) c.3554A>G (p.Tyr1185Cys) c.3632A>G (p.Tyr1211Cys) c.3623A>G (p.Tyr1208Cys) c.3584A>G (p.Tyr1195Cys) c.3683A>G (p.Tyr1228Cys) c.3680A>G (p.Tyr1227Cys) c.3671A>G (p.Tyr1224Cys) c.3665A>G (p.Tyr1222Cys) c.3662A>G (p.Tyr1221Cys) c.3620A>G (p.Tyr1207Cys) c.3617A>G (p.Tyr1206Cys) c.2723A>G (p.Tyr908Cys) | |
2 | g.50091406T>G | CA346819120 | NRXN1 | c.3635A>C (p.Tyr1212Ser) n.802A>C c.522A>C (n.522A>C) c.530A>C (p.Tyr177Ser) c.3755A>C (p.Tyr1252Ser) c.3599A>C (p.Tyr1200Ser) c.-203A>C (n.-203A>C) c.3611A>C (p.Tyr1204Ser) n.444A>C c.3656A>C (p.Tyr1219Ser) c.3653A>C (p.Tyr1218Ser) c.3644A>C (p.Tyr1215Ser) c.3638A>C (p.Tyr1213Ser) c.3629A>C (p.Tyr1210Ser) c.3626A>C (p.Tyr1209Ser) c.3596A>C (p.Tyr1199Ser) c.3566A>C (p.Tyr1189Ser) c.2861A>C (p.Tyr954Ser) c.2816A>C (p.Tyr939Ser) c.2789A>C (p.Tyr930Ser) c.2696A>C (p.Tyr899Ser) c.3569A>C (p.Tyr1190Ser) c.3608A>C (p.Tyr1203Ser) c.3524A>C (p.Tyr1175Ser) c.3554A>C (p.Tyr1185Ser) c.3632A>C (p.Tyr1211Ser) c.3623A>C (p.Tyr1208Ser) c.3584A>C (p.Tyr1195Ser) c.3683A>C (p.Tyr1228Ser) c.3680A>C (p.Tyr1227Ser) c.3671A>C (p.Tyr1224Ser) c.3665A>C (p.Tyr1222Ser) c.3662A>C (p.Tyr1221Ser) c.3620A>C (p.Tyr1207Ser) c.3617A>C (p.Tyr1206Ser) c.2723A>C (p.Tyr908Ser) | |
2 | g.50091407A= | CA1249373436 | NRXN1 | c.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=) | |
2 | g.50091407A>C | CA346819121 | NRXN1 | c.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) | |
2 | g.50091407A>G | CA346819123 | NRXN1 | c.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) | |
2 | g.50091407A>T | CA346819122 | NRXN1 | c.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 |
2 | g.50091408T>A | CA346819124 | NRXN1 | c.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) | |
2 | g.50091408T>C | CA426101612 | NRXN1 | c.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=) | |
2 | g.50091408T>G | CA346819125 | NRXN1 | c.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) | |
2 | g.50091409T>A | CA346819126 | NRXN1 | c.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) | |
2 | g.50091409T>C | CA346819128 | NRXN1 | c.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) | |
2 | g.50091409T>G | CA346819127 | NRXN1 | c.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) | |
2 | g.50091410T>A | CA346819129 | NRXN1 | c.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) | |
2 | g.50091410T>C | CA346819131 | NRXN1 | c.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) | |
2 | g.50091410T>G | CA346819130 | NRXN1 | c.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) | |
2 | g.50091411C>A | CA1654405 | NRXN1 | c.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 |
2 | g.50091411C= | CA1249373437 | NRXN1 | c.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=) | |
2 | g.50091411C>G | CA426101614 | NRXN1 | c.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 |
2 | g.50091411C>T | CA1654404 | NRXN1 | c.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 |
2 | g.50091412C>A | CA346819132 | NRXN1 | c.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) | |
2 | g.50091412C>G | CA346819133 | NRXN1 | c.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) | |
2 | g.50091412C>T | CA346819134 | NRXN1 | c.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 |
2 | g.50091413C>A | CA346819135 | NRXN1 | c.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) | |
2 | g.50091413C>G | CA346819136 | NRXN1 | c.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) | |
2 | g.50091413C>T | CA346819137 | NRXN1 | c.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) | |
2 | g.50091414A= | CA1249373438 | NRXN1 | c.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=) | |
2 | g.50091414A>C | CA346819138 | NRXN1 | c.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) | |
2 | g.50091414A>G | CA426101615 | NRXN1 | c.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 |
2 | g.50091414A>T | CA346819139 | NRXN1 | c.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) | |
2 | g.50091415T>A | CA346819140 | NRXN1 | c.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 |
2 | g.50091415T>C | CA346819141 | NRXN1 | c.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) | |
2 | g.50091415T>G | CA346819142 | NRXN1 | c.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) | |
2 | g.50091415T= | CA1249373439 | NRXN1 | c.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=) | |
2 | g.50091416del | CA2573051992 | NRXN1 | c.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 |
2 | g.50091416C>A | CA346819143 | NRXN1 | c.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) | |
2 | g.50091416C>G | CA346819144 | NRXN1 | c.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) | |
2 | g.50091416C>T | CA346819145 | NRXN1 | c.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) | |
2 | g.50091417A= | CA1249373440 | NRXN1 | c.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=) | |
2 | g.50091417A>C | CA346819146 | NRXN1 | c.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) | |
2 | g.50091417A>G | CA426101618 | NRXN1 | c.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 |
2 | g.50091417A>T | CA346819147 | NRXN1 | c.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) | |
2 | g.50091418T>A | CA346819148 | NRXN1 | c.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) | |
2 | g.50091418T>C | CA346819149 | NRXN1 | c.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 |
2 | g.50091418T>G | CA346819150 | NRXN1 | c.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 |
2 | g.50091419T>A | CA346819151 | NRXN1 | c.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) | |
2 | g.50091419T>C | CA346819152 | NRXN1 | c.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 |
2 | g.50091419T>G | CA346819153 | NRXN1 | c.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) | |
2 | g.50091420A>C | CA346819154 | NRXN1 | c.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) | |
2 | g.50091420A>G | CA426101622 | NRXN1 | c.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=) | |
2 | g.50091420A>T | CA426101623 | NRXN1 | c.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=) | |
2 | g.50091421A>C | CA346819155 | NRXN1 | c.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) | |
2 | g.50091421A>G | CA346819156 | NRXN1 | c.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 |
2 | g.50091421A>T | CA346819157 | NRXN1 | c.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) | |
2 | g.50091422T>A | CA346819158 | NRXN1 | c.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) | |
2 | g.50091422T>C | CA346819159 | NRXN1 | c.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) | |
2 | g.50091422T>G | CA346819160 | NRXN1 | c.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 |
2 | g.50091422T= | CA1249373441 | NRXN1 | c.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=) | |
2 | g.50091423G>A | CA426101625 | NRXN1 | c.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 |
2 | g.50091423G>C | CA346819161 | NRXN1 | c.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) | |
2 | g.50091423G= | CA1249373442 | NRXN1 | c.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=) | |
2 | g.50091423G>T | CA426101626 | NRXN1 | c.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 |
2 | g.50091424A>C | CA346819164 | NRXN1 | c.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) | |
2 | g.50091424A>G | CA346819162 | NRXN1 | c.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) | |
2 | g.50091424A>T | CA346819163 | NRXN1 | c.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) | |
2 | g.50091425T>A | CA346819165 | NRXN1 | c.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) | |
2 | g.50091425T>C | CA207108 | NRXN1 | c.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 |
2 | g.50091425T>G | CA346819166 | NRXN1 | c.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) | |
2 | g.50091425T= | CA1249373443 | NRXN1 | c.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=) | |
2 | g.50091426T>A | CA426101627 | NRXN1 | c.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=) | |
2 | g.50091426T>C | CA426101628 | NRXN1 | c.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=) | |
2 | g.50091426T>G | CA426101630 | NRXN1 | c.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 |
2 | g.50091427G>A | CA346819169 | NRXN1 | c.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 |
2 | g.50091427G>C | CA346819168 | NRXN1 | c.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) | |
2 | g.50091427G= | CA1249373444 | NRXN1 | c.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=) | |
2 | g.50091427G>T | CA346819167 | NRXN1 | c.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 |
2 | g.50091428C>A | CA346819170 | NRXN1 | c.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) | |
2 | g.50091428C>G | CA346819171 | NRXN1 | c.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) | |
2 | g.50091428C>T | CA346819172 | NRXN1 | c.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) | |
2 | g.50091429A= | CA1249373445 | NRXN1 | c.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=) | |
2 | g.50091429A>C | CA346819173 | NRXN1 | c.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) | |
2 | g.50091429A>G | CA1654407 | NRXN1 | c.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 |
2 | g.50091429A>T | CA1654406 | NRXN1 | c.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 |
2 | g.50091430T>A | CA346819174 | NRXN1 | c.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) | |
2 | g.50091430T>C | CA1654408 | NRXN1 | c.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 |
2 | g.50091430T>G | CA346819175 | NRXN1 | c.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 |
2 | g.50091430T= | CA1249373446 | NRXN1 | c.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=) | |
2 | g.50091431T>A | CA346819176 | NRXN1 | c.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) | |
2 | g.50091431T>C | CA346819177 | NRXN1 | c.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 |
2 | g.50091431T>G | CA346819178 | NRXN1 | c.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) | |
2 | g.50091432G>A | CA426101632 | NRXN1 | c.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=) | |
2 | g.50091432G>C | CA426101633 | NRXN1 | c.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=) | |
2 | g.50091432G= | CA1249373447 | NRXN1 | c.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=) | |
2 | g.50091432G>T | CA47843158 | NRXN1 | c.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 |
2 | g.50091433G>A | CA1654409 | NRXN1 | c.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 |
2 | g.50091433G>C | CA346819179 | NRXN1 | c.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) | |
2 | g.50091433G= | CA1249373448 | NRXN1 | c.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=) | |
2 | g.50091433G>T | CA346819180 | NRXN1 | c.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) | |
2 | g.50091434A>C | CA346819181 | NRXN1 | c.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) | |
2 | g.50091434A>G | CA346819182 | NRXN1 | c.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) | |
2 | g.50091434A>T | CA346819183 | NRXN1 | c.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) | |
2 | g.50091435T>A | CA346819184 | NRXN1 | c.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) | |
2 | g.50091435T>C | CA426101637 | NRXN1 | c.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 |
2 | g.50091435T>G | CA346819185 | NRXN1 | c.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 |
2 | g.50091436T>A | CA346819186 | NRXN1 | c.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) | |
2 | g.50091436T>C | CA346819188 | NRXN1 | c.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) | |
2 | g.50091436T>G | CA346819187 | NRXN1 | c.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) | |
2 | g.50091437C>A | CA346819189 | NRXN1 | c.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 |
2 | g.50091437C>G | CA346819191 | NRXN1 | c.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 |
2 | g.50091437C>T | CA346819190 | NRXN1 | c.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) | |
2 | g.50091438T>A | CA346819192 | NRXN1 | c.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) | |
2 | g.50091438T>C | CA1654410 | NRXN1 | c.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 |
2 | g.50091438T>G | CA346819193 | NRXN1 | c.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) | |
2 | g.50091438T= | CA1249373449 | NRXN1 | c.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=) | |
2 | g.50091439T>A | CA346819194 | NRXN1 | c.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) | |
2 | g.50091439T>C | CA346819195 | NRXN1 | c.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 |
2 | g.50091439T>G | CA346819196 | NRXN1 | c.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) | |
2 | g.50091440C>A | CA346819197 | NRXN1 | c.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) | |
2 | g.50091440C= | CA1249373450 | NRXN1 | c.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=) | |
2 | g.50091440C>G | CA346819198 | NRXN1 | c.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) | |
2 | g.50091440C>T | CA1654411 | NRXN1 | c.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 |
2 | g.50091441A>C | CA346819199 | NRXN1 | c.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) | |
2 | g.50091441A>G | CA426101642 | NRXN1 | c.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 |
2 | g.50091441A>T | CA426101641 | NRXN1 | c.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=) | |
2 | g.50091442A= | CA1249373451 | NRXN1 | c.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=) | |
2 | g.50091442A>C | CA346819201 | NRXN1 | c.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) | |
2 | g.50091442A>G | CA47843164 | NRXN1 | c.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 |
2 | g.50091442A>T | CA346819200 | NRXN1 | c.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) | |
2 | g.50091443T>A | CA346819202 | NRXN1 | c.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) | |
2 | g.50091443T>C | CA346819203 | NRXN1 | c.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) | |
2 | g.50091443T>G | CA346819204 | NRXN1 | c.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) | |
2 | g.50091444G>A | CA426101646 | NRXN1 | c.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 |
2 | g.50091444G>C | CA426101647 | NRXN1 | c.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=) | |
2 | g.50091444G= | CA1249373452 | NRXN1 | c.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=) | |
2 | g.50091444G>T | CA426101648 | NRXN1 | c.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=) | |
2 | g.50091445G>A | CA346819205 | NRXN1 | c.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 |
2 | g.50091445G>C | CA346819206 | NRXN1 | c.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) | |
2 | g.50091445G>T | CA346819207 | NRXN1 | c.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) | |
2 | g.50091446C>A | CA346819208 | NRXN1 | c.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) | |
2 | g.50091446C= | CA1249373453 | NRXN1 | c.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=) | |
2 | g.50091446C>G | CA346819209 | NRXN1 | c.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) | |
2 | g.50091446C>T | CA316173 | NRXN1 | c.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 |
2 | g.50091447G>A | CA426101653 | NRXN1 | c.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 |
2 | g.50091447G>C | CA346819210 | NRXN1 | c.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) | |
2 | g.50091447G= | CA1249373454 | NRXN1 | c.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=) | |
2 | g.50091447G>T | CA1654412 | NRXN1 | c.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 |
2 | g.50091448A>C | CA346819212 | NRXN1 | c.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) | |
2 | g.50091448A>G | CA346819213 | NRXN1 | c.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) | |
2 | g.50091448A>T | CA346819211 | NRXN1 | c.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) | |
2 | g.50091449T>A | CA346819214 | NRXN1 | c.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) | |
2 | g.50091449T>C | CA346819215 | NRXN1 | c.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) | |
2 | g.50091449T>G | CA346819216 | NRXN1 | c.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) | |
2 | g.50091450G>A | CA426101655 | NRXN1 | c.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=) | |
2 | g.50091450G>C | CA346819217 | NRXN1 | c.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 |
2 | g.50091450G= | CA1249373455 | NRXN1 | c.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=) | |
2 | g.50091450G>T | CA346819218 | NRXN1 | c.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) | |
2 | g.50091451T>A | CA346819221 | NRXN1 | c.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) | |
2 | g.50091451T>C | CA346819219 | NRXN1 | c.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) | |
2 | g.50091451T>G | CA346819220 | NRXN1 | c.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) | |
2 | g.50091452C>A | CA346819222 | NRXN1 | c.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) | |
2 | g.50091452C>G | CA346819223 | NRXN1 | c.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) | |
2 | g.50091452C>T | CA346819224 | NRXN1 | c.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) | |
2 | g.50091453A>C | CA346819225 | NRXN1 | c.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) | |
2 | g.50091453A>G | CA426101658 | NRXN1 | c.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 |
2 | g.50091453A>T | CA346819226 | NRXN1 | c.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) | |
2 | g.50091454T>A | CA346819227 | NRXN1 | c.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) | |
2 | g.50091454T>C | CA346819229 | NRXN1 | c.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) | |
2 | g.50091454T>G | CA346819228 | NRXN1 | c.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) | |
2 | g.50091455C>A | CA346819230 | NRXN1 | c.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) | |
2 | g.50091455C= | CA1249373456 | NRXN1 | c.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=) | |
2 | g.50091455C>G | CA346819231 | NRXN1 | c.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) | |
2 | g.50091455C>T | CA47843168 | NRXN1 | c.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 |
2 | g.50091456T>A | CA426101661 | NRXN1 | c.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=) | |
2 | g.50091456T>C | CA426101662 | NRXN1 | c.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=) | |
2 | g.50091456T>G | CA1654413 | NRXN1 | c.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 |
2 | g.50091456T= | CA1249373457 | NRXN1 | c.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=) | |
2 | g.50091457G>A | CA346819232 | NRXN1 | c.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 |
2 | g.50091457G>C | CA346819233 | NRXN1 | c.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) | |
2 | g.50091457G>T | CA346819234 | NRXN1 | c.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) | |
2 | g.50091458T>A | CA346819235 | NRXN1 | c.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) | |
2 | g.50091458T>C | CA346819236 | NRXN1 | c.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) | |
2 | g.50091458T>G | CA346819237 | NRXN1 | c.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) | |
2 | g.50091459C>A | CA426101664 | NRXN1 | c.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=) | |
2 | g.50091459C= | CA1249373458 | NRXN1 | c.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=) | |
2 | g.50091459C>G | CA1654414 | NRXN1 | c.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 |
2 | g.50091459C>T | CA426101665 | NRXN1 | c.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 |
2 | g.50091460C>A | CA346819240 | NRXN1 | c.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) | |
2 | g.50091460C>G | CA346819239 | NRXN1 | c.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) | |
2 | g.50091460C>T | CA346819238 | NRXN1 | c.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 |
2 | g.50091461C>A | CA346819241 | NRXN1 | c.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) | |
2 | g.50091461C>G | CA346819242 | NRXN1 | c.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) | |
2 | g.50091461C>T | CA346819243 | NRXN1 | c.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) | |
2 | g.50091462A>C | CA426101666 | NRXN1 | c.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=) | |
2 | g.50091462A>G | CA426101667 | NRXN1 | c.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=) | |
2 | g.50091462A>T | CA426101669 | NRXN1 | c.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=) | |
2 | g.50091463A= | CA1249373459 | NRXN1 | c.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=) | |
2 | g.50091463A>C | CA346819244 | NRXN1 | c.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) | |
2 | g.50091463A>G | CA346819245 | NRXN1 | c.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 |
2 | g.50091463A>T | CA346819246 | NRXN1 | c.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) | |
2 | g.50091464C>A | CA346819249 | NRXN1 | c.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 |
2 | g.50091464C>G | CA346819247 | NRXN1 | c.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) | |
2 | g.50091464C>T | CA346819248 | NRXN1 | c.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) | |
2 | g.50091465A= | CA1249373460 | NRXN1 | c.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=) | |
2 | g.50091465A>C | CA346819250 | NRXN1 | c.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) | |
2 | g.50091465A>G | CA426101672 | NRXN1 | c.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 |
2 | g.50091465A>T | CA346819251 | NRXN1 | c.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) | |
2 | g.50091466T>A | CA346819252 | NRXN1 | c.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) | |
2 | g.50091466T>C | CA346819253 | NRXN1 | c.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) | |
2 | g.50091466T>G | CA346819254 | NRXN1 | c.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) | |
2 | g.50091467T>A | CA346819257 | NRXN1 | c.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) | |
2 | g.50091467T>C | CA346819255 | NRXN1 | c.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) | |
2 | g.50091467T>G | CA346819256 | NRXN1 | c.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) | |
2 | g.50091468A>C | CA346819258 | NRXN1 | c.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) | |
2 | g.50091468A>G | CA426101674 | NRXN1 | c.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=) | |
2 | g.50091468A>T | CA346819259 | NRXN1 | c.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) | |
2 | g.50091469A>C | CA346819260 | NRXN1 | c.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) | |
2 | g.50091469A>G | CA346819261 | NRXN1 | c.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) | |
2 | g.50091469A>T | CA346819262 | NRXN1 | c.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) | |
2 | g.50091470A>C | CA346819263 | NRXN1 | c.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) | |
2 | g.50091470A>G | CA346819264 | NRXN1 | c.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) | |
2 | g.50091470A>T | CA346819265 | NRXN1 | c.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) | |
2 | g.50091471C>A | CA346819266 | NRXN1 | c.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) | |
2 | g.50091471C>G | CA346819267 | NRXN1 | c.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) | |
2 | g.50091471C>T | CA426101678 | NRXN1 | c.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 |
2 | g.50091472T>A | CA346819268 | NRXN1 | c.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) | |
2 | g.50091472T>C | CA346819269 | NRXN1 | c.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) | |
2 | g.50091472T>G | CA346819270 | NRXN1 | c.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 |
2 | g.50091473T>A | CA346819273 | NRXN1 | c.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) | |
2 | g.50091473T>C | CA346819271 | NRXN1 | c.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) | |
2 | g.50091473T>G | CA346819272 | NRXN1 | c.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 |
2 | g.50091474A= | CA1249373461 | NRXN1 | c.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=) | |
2 | g.50091474A>C | CA1654415 | NRXN1 | c.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 |
2 | g.50091474A>G | CA426101680 | NRXN1 | c.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=) | |
2 | g.50091474A>T | CA426101681 | NRXN1 | c.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=) | |
2 | g.50091475A>C | CA346819274 | NRXN1 | c.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) | |
2 | g.50091475A>G | CA346819275 | NRXN1 | c.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) | |
2 | g.50091475A>T | CA346819276 | NRXN1 | c.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) | |
2 | g.50091476C>A | CA346819277 | NRXN1 | c.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) | |
2 | g.50091476C= | CA1249373462 | NRXN1 | c.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=) | |
2 | g.50091476C>G | CA346819278 | NRXN1 | c.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) | |
2 | g.50091476C>T | CA346819279 | NRXN1 | c.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 |
2 | g.50091477T>A | CA426101683 | NRXN1 | c.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=) | |
2 | g.50091477T>C | CA426101684 | NRXN1 | c.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=) | |
2 | g.50091477T>G | CA426101685 | NRXN1 | c.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=) | |
2 | g.50091478C>A | CA346819280 | NRXN1 | c.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 |
2 | g.50091478C= | CA1249373463 | NRXN1 | c.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=) | |
2 | g.50091478C>G | CA1654416 | NRXN1 | c.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 |
2 | g.50091478C>T | CA346819281 | NRXN1 | c.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) | |
2 | g.50091478_50091479insACCCAACA | CA2749871352 | NRXN1 | c.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) | |
2 | g.50091479C>A | CA1654417 | NRXN1 | c.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 |
2 | g.50091479C= | CA1249373464 | NRXN1 | c.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=) | |
2 | g.50091479C>G | CA346819282 | NRXN1 | c.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) | |
2 | g.50091479C>T | CA346819283 | NRXN1 | c.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) | |
2 | g.50091480A>C | CA346819284 | NRXN1 | c.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) | |
2 | g.50091480A>G | CA426101687 | NRXN1 | c.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=) | |
2 | g.50091480A>T | CA426101688 | NRXN1 | c.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=) | |
2 | g.50091481A= | CA1249373465 | NRXN1 | c.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=) | |
2 | g.50091481A>C | CA346819285 | NRXN1 | c.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) | |
2 | g.50091481A>G | CA346819287 | NRXN1 | c.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 |
2 | g.50091481A>T | CA346819286 | NRXN1 | c.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 |
2 | g.50091482T>A | CA346819288 | NRXN1 | c.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) | |
2 | g.50091482T>C | CA1654418 | NRXN1 | c.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 |
2 | g.50091482T>G | CA346819289 | NRXN1 | c.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) | |
2 | g.50091482T= | CA1249373466 | NRXN1 | c.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=) | |
2 | g.50091483T>A | CA346819290 | NRXN1 | c.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) | |
2 | g.50091483T>C | CA426101693 | NRXN1 | c.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 |
2 | g.50091483T>G | CA346819291 | NRXN1 | c.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) | |
2 | g.50091484T>A | CA346819292 | NRXN1 | c.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) | |
2 | g.50091484T>C | CA346819293 | NRXN1 | c.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 |
2 | g.50091484T>G | CA346819294 | NRXN1 | c.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) | |
2 | g.50091484T= | CA1249373467 | NRXN1 | c.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=) | |
2 | g.50091485T>A | CA346819295 | NRXN1 | c.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) | |
2 | g.50091485T>C | CA346819296 | NRXN1 | c.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) | |
2 | g.50091485T>G | CA346819297 | NRXN1 | c.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) | |
2 | g.50091486T>A | CA426101694 | NRXN1 | c.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=) | |
2 | g.50091486T>C | CA426101695 | NRXN1 | c.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 |
2 | g.50091486T>G | CA426101697 | NRXN1 | c.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=) | |
2 | g.50091487C>A | CA346819298 | NRXN1 | c.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) | |
2 | g.50091487C>G | CA346819300 | NRXN1 | c.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) | |
2 | g.50091487C>T | CA346819299 | NRXN1 | c.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) | |
2 | g.50091488C>A | CA346819301 | NRXN1 | c.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) | |
2 | g.50091488C>G | CA346819303 | NRXN1 | c.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) | |
2 | g.50091488C>T | CA346819302 | NRXN1 | c.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 |
2 | g.50091489C>A | CA346819304 | NRXN1 | c.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) | |
2 | g.50091489C= | CA1249373468 | NRXN1 | c.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=) | |
2 | g.50091489C>G | CA10614137 | NRXN1 | c.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 |
2 | g.50091489C>T | CA426101699 | NRXN1 | c.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=) | |
2 | g.50091490T>A | CA346819305 | NRXN1 | c.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) | |
2 | g.50091490T>C | CA346819306 | NRXN1 | c.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) | |
2 | g.50091490T>G | CA346819307 | NRXN1 | c.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) | |
2 | g.50091491G>A | CA346819308 | NRXN1 | c.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) | |
2 | g.50091491G>C | CA346819309 | NRXN1 | c.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) | |
2 | g.50091491G= | CA1249373469 | NRXN1 | c.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=) | |
2 | g.50091491G>T | CA1654419 | NRXN1 | c.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 |
2 | g.50091492G>A | CA1654420 | NRXN1 | c.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 |
2 | g.50091492G>C | CA346819310 | NRXN1 | c.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) | |
2 | g.50091492G= | CA1249373470 | NRXN1 | c.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=) | |
2 | g.50091492G>T | CA346819311 | NRXN1 | c.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) | |
2 | g.50091493T>A | CA346819314 | NRXN1 | c.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) | |
2 | g.50091493T>C | CA346819313 | NRXN1 | c.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 |
2 | g.50091493T>G | CA346819312 | NRXN1 | c.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) | |
2 | g.50091494G>A | CA346819315 | NRXN1 | c.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) | |
2 | g.50091494G>C | CA346819316 | NRXN1 | c.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) | |
2 | g.50091494G= | CA1249373471 | NRXN1 | c.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=) | |
2 | g.50091494G>T | CA346819317 | NRXN1 | c.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 |
2 | g.50091495C>A | CA346819318 | NRXN1 | c.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) | |
2 | g.50091495C>G | CA346819319 | NRXN1 | c.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) | |
2 | g.50091495C>T | CA346819320 | NRXN1 | c.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) | |
2 | g.50091496T>A | CA346819321 | NRXN1 | c.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) | |
2 | g.50091496T>C | CA16604600 | NRXN1 | c.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 |
2 | g.50091496T>G | CA346819322 | NRXN1 | c.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) | |
2 | g.50091496T= | CA1249373472 | NRXN1 | c.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=) | |
2 | g.50091497G>A | CA1654421 | NRXN1 | c.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 |
2 | g.50091497G= | CA1249373473 | NRXN1 | c.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=) | |
2 | g.50091498T>C | CA1249373475 | NRXN1 | c.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 |
2 | g.50091498T= | CA1249373474 | NRXN1 | c.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=) | |
2 | g.50091498_50091499delinsTA | CA1249373476 | NRXN1 | c.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) | |
2 | g.50091500del | CA1249373477 | NRXN1 | c.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 |
2 | g.50091500_50091505delinsAGAGAG | CA1249373478 | NRXN1 | c.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) | |
2 | g.50091501G>A | CA2576964402 | NRXN1 | c.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) | |
2 | g.50091501G>C | CA2659006353 | NRXN1 | c.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 |
2 | g.50091504_50091508del | CA1654422 | NRXN1 | c.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 |
2 | g.50091503G>A | CA532619380 | NRXN1 | c.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 |
2 | g.50091503G= | CA1249373479 | NRXN1 | c.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=) | |
2 | g.50091503G>T | CA2576964403 | NRXN1 | c.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) | |
2 | g.50091504A= | CA1249373480 | NRXN1 | c.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=) | |
2 | g.50091504A>C | CA1654423 | NRXN1 | c.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 |
2 | g.50091504A>G | CA2842304683 | NRXN1 | c.3547-10T>C (n.3547-10T>C) n.714-10T>C c.434-10T>C (n.434-10T>C) c.442-10T>C (n.442-10T>C) c.3667-10T>C (n.3667-10T>C) c.3511-10T>C (n.3511-10T>C) c.-291-10T>C (n.-291-10T>C) c.3523-10T>C (n.3523-10T>C) n.356-10T>C c.3568-10T>C (n.3568-10T>C) c.3565-10T>C (n.3565-10T>C) c.3556-10T>C (n.3556-10T>C) c.3550-10T>C (n.3550-10T>C) c.3541-10T>C (n.3541-10T>C) c.3538-10T>C (n.3538-10T>C) c.3508-10T>C (n.3508-10T>C) c.3478-10T>C (n.3478-10T>C) c.2773-10T>C (n.2773-10T>C) c.2728-10T>C (n.2728-10T>C) c.2701-10T>C (n.2701-10T>C) c.2608-10T>C (n.2608-10T>C) c.3481-10T>C (n.3481-10T>C) c.3520-10T>C (n.3520-10T>C) c.3436-10T>C (n.3436-10T>C) c.3466-10T>C (n.3466-10T>C) c.3544-10T>C (n.3544-10T>C) c.3535-10T>C (n.3535-10T>C) c.3496-10T>C (n.3496-10T>C) c.3595-10T>C (n.3595-10T>C) c.3592-10T>C (n.3592-10T>C) c.3583-10T>C (n.3583-10T>C) c.3577-10T>C (n.3577-10T>C) c.3574-10T>C (n.3574-10T>C) c.3532-10T>C (n.3532-10T>C) c.3529-10T>C (n.3529-10T>C) c.2635-10T>C (n.2635-10T>C) | |
2 | g.50091505_50091511del | CA532619381 | NRXN1 | c.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 |
2 | g.50091506G>A | CA2659006354 | NRXN1 | c.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 |
2 | g.50091506G>C | CA2659006355 | NRXN1 | c.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 |