Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.51026311_51028334del | CA1139657030 | NRXN1 | c.-59_772+1193del c.-59_871+62del | ClinVar |
2 | g.51026413C>A | CA346823144 | NRXN1 | c.772+1089G>T (n.772+1089G>T) c.329+1089G>T n.66+1089G>T c.829G>T (p.Gly277Ter) c.297+1089G>T c.259G>T (p.Gly87Ter) | |
2 | g.51026413C= | CA1249877826 | NRXN1 | c.772+1089G= (n.772+1089G=) c.329+1089G= n.66+1089G= c.829G= (p.Gly277=) c.297+1089G= c.259G= (p.Gly87=) | |
2 | g.51026413C>G | CA346823146 | NRXN1 | c.772+1089G>C (n.772+1089G>C) c.329+1089G>C n.66+1089G>C c.829G>C (p.Gly277Arg) c.297+1089G>C c.259G>C (p.Gly87Arg) | |
2 | g.51026413C>T | CA346823147 | NRXN1 | c.772+1089G>A (n.772+1089G>A) c.329+1089G>A n.66+1089G>A c.829G>A (p.Gly277Arg) c.297+1089G>A c.259G>A (p.Gly87Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026414T>A | CA346823150 | NRXN1 | c.772+1088A>T (n.772+1088A>T) c.329+1088A>T n.66+1088A>T c.828A>T (p.Gln276His) c.297+1088A>T c.258A>T (p.Gln86His) | |
2 | g.51026414T>C | CA426106426 | NRXN1 | c.772+1088A>G (n.772+1088A>G) c.329+1088A>G n.66+1088A>G c.828A>G (p.Gln276=) c.297+1088A>G c.258A>G (p.Gln86=) | gnomAD v4 |
2 | g.51026414T>G | CA346823148 | NRXN1 | c.772+1088A>C (n.772+1088A>C) c.329+1088A>C n.66+1088A>C c.828A>C (p.Gln276His) c.297+1088A>C c.258A>C (p.Gln86His) | |
2 | g.51026415T>A | CA346823152 | NRXN1 | c.772+1087A>T (n.772+1087A>T) c.329+1087A>T n.66+1087A>T c.827A>T (p.Gln276Leu) c.297+1087A>T c.257A>T (p.Gln86Leu) | |
2 | g.51026415T>C | CA346823153 | NRXN1 | c.772+1087A>G (n.772+1087A>G) c.329+1087A>G n.66+1087A>G c.827A>G (p.Gln276Arg) c.297+1087A>G c.257A>G (p.Gln86Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026415T>G | CA346823155 | NRXN1 | c.772+1087A>C (n.772+1087A>C) c.329+1087A>C n.66+1087A>C c.827A>C (p.Gln276Pro) c.297+1087A>C c.257A>C (p.Gln86Pro) | |
2 | g.51026415T= | CA1249877827 | NRXN1 | c.772+1087A= (n.772+1087A=) c.329+1087A= n.66+1087A= c.827A= (p.Gln276=) c.297+1087A= c.257A= (p.Gln86=) | |
2 | g.51026416G>A | CA346823156 | NRXN1 | c.772+1086C>T (n.772+1086C>T) c.329+1086C>T n.66+1086C>T c.826C>T (p.Gln276Ter) c.297+1086C>T c.256C>T (p.Gln86Ter) | gnomAD v4 COSMIC COSMIC |
2 | g.51026416G>C | CA1655386 | NRXN1 | c.772+1086C>G (n.772+1086C>G) c.329+1086C>G n.66+1086C>G c.826C>G (p.Gln276Glu) c.297+1086C>G c.256C>G (p.Gln86Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.51026416G= | CA1249877828 | NRXN1 | c.772+1086C= (n.772+1086C=) c.329+1086C= n.66+1086C= c.826C= (p.Gln276=) c.297+1086C= c.256C= (p.Gln86=) | |
2 | g.51026416G>T | CA346823158 | NRXN1 | c.772+1086C>A (n.772+1086C>A) c.329+1086C>A n.66+1086C>A c.826C>A (p.Gln276Lys) c.297+1086C>A c.256C>A (p.Gln86Lys) | gnomAD v4 |
2 | g.51026417G>A | CA426106427 | NRXN1 | c.772+1085C>T (n.772+1085C>T) c.329+1085C>T n.66+1085C>T c.825C>T (p.Asp275=) c.297+1085C>T c.255C>T (p.Asp85=) | dbSNP gnomAD v4 |
2 | g.51026417G>C | CA346823160 | NRXN1 | c.772+1085C>G (n.772+1085C>G) c.329+1085C>G n.66+1085C>G c.825C>G (p.Asp275Glu) c.297+1085C>G c.255C>G (p.Asp85Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026417G= | CA1249877829 | NRXN1 | c.772+1085C= (n.772+1085C=) c.329+1085C= n.66+1085C= c.825C= (p.Asp275=) c.297+1085C= c.255C= (p.Asp85=) | |
2 | g.51026417G>T | CA346823161 | NRXN1 | c.772+1085C>A (n.772+1085C>A) c.329+1085C>A n.66+1085C>A c.825C>A (p.Asp275Glu) c.297+1085C>A c.255C>A (p.Asp85Glu) | gnomAD v4 |
2 | g.51026418T>A | CA346823163 | NRXN1 | c.772+1084A>T (n.772+1084A>T) c.329+1084A>T n.66+1084A>T c.824A>T (p.Asp275Val) c.297+1084A>T c.254A>T (p.Asp85Val) | gnomAD v4 |
2 | g.51026418T>C | CA346823165 | NRXN1 | c.772+1084A>G (n.772+1084A>G) c.329+1084A>G n.66+1084A>G c.824A>G (p.Asp275Gly) c.297+1084A>G c.254A>G (p.Asp85Gly) | COSMIC COSMIC |
2 | g.51026418T>G | CA346823166 | NRXN1 | c.772+1084A>C (n.772+1084A>C) c.329+1084A>C n.66+1084A>C c.824A>C (p.Asp275Ala) c.297+1084A>C c.254A>C (p.Asp85Ala) | |
2 | g.51026419C>A | CA346823168 | NRXN1 | c.772+1083G>T (n.772+1083G>T) c.329+1083G>T n.66+1083G>T c.823G>T (p.Asp275Tyr) c.297+1083G>T c.253G>T (p.Asp85Tyr) | gnomAD v4 |
2 | g.51026419C= | CA1249877830 | NRXN1 | c.772+1083G= (n.772+1083G=) c.329+1083G= n.66+1083G= c.823G= (p.Asp275=) c.297+1083G= c.253G= (p.Asp85=) | |
2 | g.51026419C>G | CA346823169 | NRXN1 | c.772+1083G>C (n.772+1083G>C) c.329+1083G>C n.66+1083G>C c.823G>C (p.Asp275His) c.297+1083G>C c.253G>C (p.Asp85His) | |
2 | g.51026419C>T | CA346823170 | NRXN1 | c.772+1083G>A (n.772+1083G>A) c.329+1083G>A n.66+1083G>A c.823G>A (p.Asp275Asn) c.297+1083G>A c.253G>A (p.Asp85Asn) | dbSNP gnomAD v4 |
2 | g.51026420A= | CA1249877831 | NRXN1 | c.772+1082T= (n.772+1082T=) c.329+1082T= n.66+1082T= c.822T= (p.Asn274=) c.297+1082T= c.252T= (p.Asn84=) | |
2 | g.51026420A>C | CA346823173 | NRXN1 | c.772+1082T>G (n.772+1082T>G) c.329+1082T>G n.66+1082T>G c.822T>G (p.Asn274Lys) c.297+1082T>G c.252T>G (p.Asn84Lys) | |
2 | g.51026420A>G | CA1655387 | NRXN1 | c.772+1082T>C (n.772+1082T>C) c.329+1082T>C n.66+1082T>C c.822T>C (p.Asn274=) c.297+1082T>C c.252T>C (p.Asn84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026420A>T | CA346823171 | NRXN1 | c.772+1082T>A (n.772+1082T>A) c.329+1082T>A n.66+1082T>A c.822T>A (p.Asn274Lys) c.297+1082T>A c.252T>A (p.Asn84Lys) | gnomAD v4 |
2 | g.51026421T>A | CA346823175 | NRXN1 | c.772+1081A>T (n.772+1081A>T) c.329+1081A>T n.66+1081A>T c.821A>T (p.Asn274Ile) c.297+1081A>T c.251A>T (p.Asn84Ile) | |
2 | g.51026421T>C | CA1655388 | NRXN1 | c.772+1081A>G (n.772+1081A>G) c.329+1081A>G n.66+1081A>G c.821A>G (p.Asn274Ser) c.297+1081A>G c.251A>G (p.Asn84Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026421T>G | CA346823177 | NRXN1 | c.772+1081A>C (n.772+1081A>C) c.329+1081A>C n.66+1081A>C c.821A>C (p.Asn274Thr) c.297+1081A>C c.251A>C (p.Asn84Thr) | |
2 | g.51026421T= | CA1249877832 | NRXN1 | c.772+1081A= (n.772+1081A=) c.329+1081A= n.66+1081A= c.821A= (p.Asn274=) c.297+1081A= c.251A= (p.Asn84=) | |
2 | g.51026422T>A | CA346823179 | NRXN1 | c.772+1080A>T (n.772+1080A>T) c.329+1080A>T n.66+1080A>T c.820A>T (p.Asn274Tyr) c.297+1080A>T c.250A>T (p.Asn84Tyr) | |
2 | g.51026422T>C | CA346823180 | NRXN1 | c.772+1080A>G (n.772+1080A>G) c.329+1080A>G n.66+1080A>G c.820A>G (p.Asn274Asp) c.297+1080A>G c.250A>G (p.Asn84Asp) | dbSNP gnomAD v2 |
2 | g.51026422T>G | CA346823182 | NRXN1 | c.772+1080A>C (n.772+1080A>C) c.329+1080A>C n.66+1080A>C c.820A>C (p.Asn274His) c.297+1080A>C c.250A>C (p.Asn84His) | |
2 | g.51026422T= | CA1249877833 | NRXN1 | c.772+1080A= (n.772+1080A=) c.329+1080A= n.66+1080A= c.820A= (p.Asn274=) c.297+1080A= c.250A= (p.Asn84=) | |
2 | g.51026423G>A | CA426106428 | NRXN1 | c.772+1079C>T (n.772+1079C>T) c.329+1079C>T n.66+1079C>T c.819C>T (p.Asp273=) c.297+1079C>T c.249C>T (p.Asp83=) | gnomAD v4 |
2 | g.51026423G>C | CA346823183 | NRXN1 | c.772+1079C>G (n.772+1079C>G) c.329+1079C>G n.66+1079C>G c.819C>G (p.Asp273Glu) c.297+1079C>G c.249C>G (p.Asp83Glu) | |
2 | g.51026423G>T | CA346823185 | NRXN1 | c.772+1079C>A (n.772+1079C>A) c.329+1079C>A n.66+1079C>A c.819C>A (p.Asp273Glu) c.297+1079C>A c.249C>A (p.Asp83Glu) | gnomAD v4 |
2 | g.51026424T>A | CA346823186 | NRXN1 | c.772+1078A>T (n.772+1078A>T) c.329+1078A>T n.66+1078A>T c.818A>T (p.Asp273Val) c.297+1078A>T c.248A>T (p.Asp83Val) | gnomAD v4 |
2 | g.51026424T>C | CA295629 | NRXN1 | c.772+1078A>G (n.772+1078A>G) c.329+1078A>G n.66+1078A>G c.818A>G (p.Asp273Gly) c.297+1078A>G c.248A>G (p.Asp83Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026424T>G | CA346823189 | NRXN1 | c.772+1078A>C (n.772+1078A>C) c.329+1078A>C n.66+1078A>C c.818A>C (p.Asp273Ala) c.297+1078A>C c.248A>C (p.Asp83Ala) | |
2 | g.51026424T= | CA1249877834 | NRXN1 | c.772+1078A= (n.772+1078A=) c.329+1078A= n.66+1078A= c.818A= (p.Asp273=) c.297+1078A= c.248A= (p.Asp83=) | |
2 | g.51026425C>A | CA346823190 | NRXN1 | c.772+1077G>T (n.772+1077G>T) c.329+1077G>T n.66+1077G>T c.817G>T (p.Asp273Tyr) c.297+1077G>T c.247G>T (p.Asp83Tyr) | gnomAD v4 |
2 | g.51026425C>G | CA346823192 | NRXN1 | c.772+1077G>C (n.772+1077G>C) c.329+1077G>C n.66+1077G>C c.817G>C (p.Asp273His) c.297+1077G>C c.247G>C (p.Asp83His) | |
2 | g.51026425C>T | CA346823193 | NRXN1 | c.772+1077G>A (n.772+1077G>A) c.329+1077G>A n.66+1077G>A c.817G>A (p.Asp273Asn) c.297+1077G>A c.247G>A (p.Asp83Asn) | |
2 | g.51026426A= | CA1249877835 | NRXN1 | c.772+1076T= (n.772+1076T=) c.329+1076T= n.66+1076T= c.816T= (p.His272=) c.297+1076T= c.246T= (p.His82=) | |
2 | g.51026426A>C | CA346823197 | NRXN1 | c.772+1076T>G (n.772+1076T>G) c.329+1076T>G n.66+1076T>G c.816T>G (p.His272Gln) c.297+1076T>G c.246T>G (p.His82Gln) | |
2 | g.51026426A>G | CA1655389 | NRXN1 | c.772+1076T>C (n.772+1076T>C) c.329+1076T>C n.66+1076T>C c.816T>C (p.His272=) c.297+1076T>C c.246T>C (p.His82=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.51026426A>T | CA346823195 | NRXN1 | c.772+1076T>A (n.772+1076T>A) c.329+1076T>A n.66+1076T>A c.816T>A (p.His272Gln) c.297+1076T>A c.246T>A (p.His82Gln) | |
2 | g.51026427T>A | CA346823198 | NRXN1 | c.772+1075A>T (n.772+1075A>T) c.329+1075A>T n.66+1075A>T c.815A>T (p.His272Leu) c.297+1075A>T c.245A>T (p.His82Leu) | ClinVar |
2 | g.51026427T>C | CA346823200 | NRXN1 | c.772+1075A>G (n.772+1075A>G) c.329+1075A>G n.66+1075A>G c.815A>G (p.His272Arg) c.297+1075A>G c.245A>G (p.His82Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026427T>G | CA346823201 | NRXN1 | c.772+1075A>C (n.772+1075A>C) c.329+1075A>C n.66+1075A>C c.815A>C (p.His272Pro) c.297+1075A>C c.245A>C (p.His82Pro) | dbSNP gnomAD v2 |
2 | g.51026427T= | CA1249877836 | NRXN1 | c.772+1075A= (n.772+1075A=) c.329+1075A= n.66+1075A= c.815A= (p.His272=) c.297+1075A= c.245A= (p.His82=) | |
2 | g.51026428G>A | CA346823203 | NRXN1 | c.772+1074C>T (n.772+1074C>T) c.329+1074C>T n.66+1074C>T c.814C>T (p.His272Tyr) c.297+1074C>T c.244C>T (p.His82Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026428G>C | CA346823204 | NRXN1 | c.772+1074C>G (n.772+1074C>G) c.329+1074C>G n.66+1074C>G c.814C>G (p.His272Asp) c.297+1074C>G c.244C>G (p.His82Asp) | |
2 | g.51026428G= | CA1249877837 | NRXN1 | c.772+1074C= (n.772+1074C=) c.329+1074C= n.66+1074C= c.814C= (p.His272=) c.297+1074C= c.244C= (p.His82=) | |
2 | g.51026428G>T | CA48054733 | NRXN1 | c.772+1074C>A (n.772+1074C>A) c.329+1074C>A n.66+1074C>A c.814C>A (p.His272Asn) c.297+1074C>A c.244C>A (p.His82Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026429T>A | CA346823207 | NRXN1 | c.772+1073A>T (n.772+1073A>T) c.329+1073A>T n.66+1073A>T c.813A>T (p.Leu271Phe) c.297+1073A>T c.243A>T (p.Leu81Phe) | |
2 | g.51026429T>C | CA426106429 | NRXN1 | c.772+1073A>G (n.772+1073A>G) c.329+1073A>G n.66+1073A>G c.813A>G (p.Leu271=) c.297+1073A>G c.243A>G (p.Leu81=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026429T>G | CA346823208 | NRXN1 | c.772+1073A>C (n.772+1073A>C) c.329+1073A>C n.66+1073A>C c.813A>C (p.Leu271Phe) c.297+1073A>C c.243A>C (p.Leu81Phe) | |
2 | g.51026429T= | CA1249877838 | NRXN1 | c.772+1073A= (n.772+1073A=) c.329+1073A= n.66+1073A= c.813A= (p.Leu271=) c.297+1073A= c.243A= (p.Leu81=) | |
2 | g.51026430A>C | CA346823210 | NRXN1 | c.772+1072T>G (n.772+1072T>G) c.329+1072T>G n.66+1072T>G c.812T>G (p.Leu271Ter) c.297+1072T>G c.242T>G (p.Leu81Ter) | |
2 | g.51026430A>G | CA346823212 | NRXN1 | c.772+1072T>C (n.772+1072T>C) c.329+1072T>C n.66+1072T>C c.812T>C (p.Leu271Ser) c.297+1072T>C c.242T>C (p.Leu81Ser) | ClinVar |
2 | g.51026430A>T | CA346823213 | NRXN1 | c.772+1072T>A (n.772+1072T>A) c.329+1072T>A n.66+1072T>A c.812T>A (p.Leu271Ter) c.297+1072T>A c.242T>A (p.Leu81Ter) | |
2 | g.51026431A= | CA1249877839 | NRXN1 | c.772+1071T= (n.772+1071T=) c.329+1071T= n.66+1071T= c.811T= (p.Leu271=) c.297+1071T= c.241T= (p.Leu81=) | |
2 | g.51026431A>C | CA346823215 | NRXN1 | c.772+1071T>G (n.772+1071T>G) c.329+1071T>G n.66+1071T>G c.811T>G (p.Leu271Val) c.297+1071T>G c.241T>G (p.Leu81Val) | COSMIC COSMIC |
2 | g.51026431A>G | CA426106430 | NRXN1 | c.772+1071T>C (n.772+1071T>C) c.329+1071T>C n.66+1071T>C c.811T>C (p.Leu271=) c.297+1071T>C c.241T>C (p.Leu81=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026431A>T | CA346823216 | NRXN1 | c.772+1071T>A (n.772+1071T>A) c.329+1071T>A n.66+1071T>A c.811T>A (p.Leu271Ile) c.297+1071T>A c.241T>A (p.Leu81Ile) | gnomAD v4 |
2 | g.51026432C>A | CA426106431 | NRXN1 | c.772+1070G>T (n.772+1070G>T) c.329+1070G>T n.66+1070G>T c.810G>T (p.Leu270=) c.297+1070G>T c.240G>T (p.Leu80=) | gnomAD v4 |
2 | g.51026432C= | CA1249877840 | NRXN1 | c.772+1070G= (n.772+1070G=) c.329+1070G= n.66+1070G= c.810G= (p.Leu270=) c.297+1070G= c.240G= (p.Leu80=) | |
2 | g.51026432C>G | CA426106432 | NRXN1 | c.772+1070G>C (n.772+1070G>C) c.329+1070G>C n.66+1070G>C c.810G>C (p.Leu270=) c.297+1070G>C c.240G>C (p.Leu80=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026432C>T | CA426106433 | NRXN1 | c.772+1070G>A (n.772+1070G>A) c.329+1070G>A n.66+1070G>A c.810G>A (p.Leu270=) c.297+1070G>A c.240G>A (p.Leu80=) | ClinVar dbSNP gnomAD v4 |
2 | g.51026433A>C | CA346823221 | NRXN1 | c.772+1069T>G (n.772+1069T>G) c.329+1069T>G n.66+1069T>G c.809T>G (p.Leu270Arg) c.297+1069T>G c.239T>G (p.Leu80Arg) | |
2 | g.51026433A>G | CA346823220 | NRXN1 | c.772+1069T>C (n.772+1069T>C) c.329+1069T>C n.66+1069T>C c.809T>C (p.Leu270Pro) c.297+1069T>C c.239T>C (p.Leu80Pro) | gnomAD v4 |
2 | g.51026433A>T | CA346823218 | NRXN1 | c.772+1069T>A (n.772+1069T>A) c.329+1069T>A n.66+1069T>A c.809T>A (p.Leu270Gln) c.297+1069T>A c.239T>A (p.Leu80Gln) | |
2 | g.51026434G>A | CA426106434 | NRXN1 | c.772+1068C>T (n.772+1068C>T) c.329+1068C>T n.66+1068C>T c.808C>T (p.Leu270=) c.297+1068C>T c.238C>T (p.Leu80=) | gnomAD v4 |
2 | g.51026434G>C | CA1655390 | NRXN1 | c.772+1068C>G (n.772+1068C>G) c.329+1068C>G n.66+1068C>G c.808C>G (p.Leu270Val) c.297+1068C>G c.238C>G (p.Leu80Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026434G= | CA1249877841 | NRXN1 | c.772+1068C= (n.772+1068C=) c.329+1068C= n.66+1068C= c.808C= (p.Leu270=) c.297+1068C= c.238C= (p.Leu80=) | |
2 | g.51026434G>T | CA346823223 | NRXN1 | c.772+1068C>A (n.772+1068C>A) c.329+1068C>A n.66+1068C>A c.808C>A (p.Leu270Met) c.297+1068C>A c.238C>A (p.Leu80Met) | gnomAD v4 |
2 | g.51026435C>A | CA426106435 | NRXN1 | c.772+1067G>T (n.772+1067G>T) c.329+1067G>T n.66+1067G>T c.807G>T (p.Val269=) c.297+1067G>T c.237G>T (p.Val79=) | gnomAD v4 |
2 | g.51026435C>G | CA426106436 | NRXN1 | c.772+1067G>C (n.772+1067G>C) c.329+1067G>C n.66+1067G>C c.807G>C (p.Val269=) c.297+1067G>C c.237G>C (p.Val79=) | |
2 | g.51026435C>T | CA426106437 | NRXN1 | c.772+1067G>A (n.772+1067G>A) c.329+1067G>A n.66+1067G>A c.807G>A (p.Val269=) c.297+1067G>A c.237G>A (p.Val79=) | |
2 | g.51026436A= | CA1249877842 | NRXN1 | c.772+1066T= (n.772+1066T=) c.329+1066T= n.66+1066T= c.806T= (p.Val269=) c.297+1066T= c.236T= (p.Val79=) | |
2 | g.51026436A>C | CA346823224 | NRXN1 | c.772+1066T>G (n.772+1066T>G) c.329+1066T>G n.66+1066T>G c.806T>G (p.Val269Gly) c.297+1066T>G c.236T>G (p.Val79Gly) | |
2 | g.51026436A>G | CA346823225 | NRXN1 | c.772+1066T>C (n.772+1066T>C) c.329+1066T>C n.66+1066T>C c.806T>C (p.Val269Ala) c.297+1066T>C c.236T>C (p.Val79Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026436A>T | CA346823226 | NRXN1 | c.772+1066T>A (n.772+1066T>A) c.329+1066T>A n.66+1066T>A c.806T>A (p.Val269Glu) c.297+1066T>A c.236T>A (p.Val79Glu) | gnomAD v4 |
2 | g.51026437C>A | CA346823227 | NRXN1 | c.772+1065G>T (n.772+1065G>T) c.329+1065G>T n.66+1065G>T c.805G>T (p.Val269Leu) c.297+1065G>T c.235G>T (p.Val79Leu) | dbSNP gnomAD v4 |
2 | g.51026437C= | CA1249877843 | NRXN1 | c.772+1065G= (n.772+1065G=) c.329+1065G= n.66+1065G= c.805G= (p.Val269=) c.297+1065G= c.235G= (p.Val79=) | |
2 | g.51026437C>G | CA346823228 | NRXN1 | c.772+1065G>C (n.772+1065G>C) c.329+1065G>C n.66+1065G>C c.805G>C (p.Val269Leu) c.297+1065G>C c.235G>C (p.Val79Leu) | |
2 | g.51026437C>T | CA346823229 | NRXN1 | c.772+1065G>A (n.772+1065G>A) c.329+1065G>A n.66+1065G>A c.805G>A (p.Val269Met) c.297+1065G>A c.235G>A (p.Val79Met) | |
2 | g.51026438C>A | CA426106439 | NRXN1 | c.772+1064G>T (n.772+1064G>T) c.329+1064G>T n.66+1064G>T c.804G>T (p.Pro268=) c.297+1064G>T c.234G>T (p.Pro78=) | gnomAD v4 |
2 | g.51026438C= | CA1249877844 | NRXN1 | c.772+1064G= (n.772+1064G=) c.329+1064G= n.66+1064G= c.804G= (p.Pro268=) c.297+1064G= c.234G= (p.Pro78=) | |
2 | g.51026438C>G | CA1655391 | NRXN1 | c.772+1064G>C (n.772+1064G>C) c.329+1064G>C n.66+1064G>C c.804G>C (p.Pro268=) c.297+1064G>C c.234G>C (p.Pro78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.51026438C>T | CA48054734 | NRXN1 | c.772+1064G>A (n.772+1064G>A) c.329+1064G>A n.66+1064G>A c.804G>A (p.Pro268=) c.297+1064G>A c.234G>A (p.Pro78=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026439G>A | CA1655392 | NRXN1 | c.772+1063C>T (n.772+1063C>T) c.329+1063C>T n.66+1063C>T c.803C>T (p.Pro268Leu) c.297+1063C>T c.233C>T (p.Pro78Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026439G>C | CA346823230 | NRXN1 | c.772+1063C>G (n.772+1063C>G) c.329+1063C>G n.66+1063C>G c.803C>G (p.Pro268Arg) c.297+1063C>G c.233C>G (p.Pro78Arg) | |
2 | g.51026439G= | CA1249877845 | NRXN1 | c.772+1063C= (n.772+1063C=) c.329+1063C= n.66+1063C= c.803C= (p.Pro268=) c.297+1063C= c.233C= (p.Pro78=) | |
2 | g.51026439G>T | CA346823231 | NRXN1 | c.772+1063C>A (n.772+1063C>A) c.329+1063C>A n.66+1063C>A c.803C>A (p.Pro268Gln) c.297+1063C>A c.233C>A (p.Pro78Gln) | gnomAD v4 |
2 | g.51026440G>A | CA346823233 | NRXN1 | c.772+1062C>T (n.772+1062C>T) c.329+1062C>T n.66+1062C>T c.802C>T (p.Pro268Ser) c.297+1062C>T c.232C>T (p.Pro78Ser) | dbSNP gnomAD v4 |
2 | g.51026440G>C | CA346823234 | NRXN1 | c.772+1062C>G (n.772+1062C>G) c.329+1062C>G n.66+1062C>G c.802C>G (p.Pro268Ala) c.297+1062C>G c.232C>G (p.Pro78Ala) | |
2 | g.51026440G= | CA1249877846 | NRXN1 | c.772+1062C= (n.772+1062C=) c.329+1062C= n.66+1062C= c.802C= (p.Pro268=) c.297+1062C= c.232C= (p.Pro78=) | |
2 | g.51026440G>T | CA346823232 | NRXN1 | c.772+1062C>A (n.772+1062C>A) c.329+1062C>A n.66+1062C>A c.802C>A (p.Pro268Thr) c.297+1062C>A c.232C>A (p.Pro78Thr) | gnomAD v4 |
2 | g.51026441C>A | CA346823235 | NRXN1 | c.772+1061G>T (n.772+1061G>T) c.329+1061G>T n.66+1061G>T c.801G>T (p.Leu267Phe) c.297+1061G>T c.231G>T (p.Leu77Phe) | gnomAD v4 |
2 | g.51026441C>G | CA346823236 | NRXN1 | c.772+1061G>C (n.772+1061G>C) c.329+1061G>C n.66+1061G>C c.801G>C (p.Leu267Phe) c.297+1061G>C c.231G>C (p.Leu77Phe) | |
2 | g.51026441C>T | CA426106440 | NRXN1 | c.772+1061G>A (n.772+1061G>A) c.329+1061G>A n.66+1061G>A c.801G>A (p.Leu267=) c.297+1061G>A c.231G>A (p.Leu77=) | |
2 | g.51026442A>C | CA346823237 | NRXN1 | c.772+1060T>G (n.772+1060T>G) c.329+1060T>G n.66+1060T>G c.800T>G (p.Leu267Trp) c.297+1060T>G c.230T>G (p.Leu77Trp) | |
2 | g.51026442A>G | CA346823238 | NRXN1 | c.772+1060T>C (n.772+1060T>C) c.329+1060T>C n.66+1060T>C c.800T>C (p.Leu267Ser) c.297+1060T>C c.230T>C (p.Leu77Ser) | |
2 | g.51026442A>T | CA346823239 | NRXN1 | c.772+1060T>A (n.772+1060T>A) c.329+1060T>A n.66+1060T>A c.800T>A (p.Leu267Ter) c.297+1060T>A c.230T>A (p.Leu77Ter) | |
2 | g.51026445del | CA2659012556 | NRXN1 | c.772+1060del (n.772+1060del) c.329+1060del n.66+1060del c.800del (p.Leu267CysfsTer16) c.297+1060del c.230del (p.Leu77CysfsTer16) | gnomAD v4 |
2 | g.51026443A>C | CA346823240 | NRXN1 | c.772+1059T>G (n.772+1059T>G) c.329+1059T>G n.66+1059T>G c.799T>G (p.Leu267Val) c.297+1059T>G c.229T>G (p.Leu77Val) | |
2 | g.51026443A>G | CA426106441 | NRXN1 | c.772+1059T>C (n.772+1059T>C) c.329+1059T>C n.66+1059T>C c.799T>C (p.Leu267=) c.297+1059T>C c.229T>C (p.Leu77=) | |
2 | g.51026443A>T | CA346823241 | NRXN1 | c.772+1059T>A (n.772+1059T>A) c.329+1059T>A n.66+1059T>A c.799T>A (p.Leu267Met) c.297+1059T>A c.229T>A (p.Leu77Met) | |
2 | g.51026444A>C | CA426106442 | NRXN1 | c.772+1058T>G (n.772+1058T>G) c.329+1058T>G n.66+1058T>G c.798T>G (p.Val266=) c.297+1058T>G c.228T>G (p.Val76=) | |
2 | g.51026444A>G | CA426106443 | NRXN1 | c.772+1058T>C (n.772+1058T>C) c.329+1058T>C n.66+1058T>C c.798T>C (p.Val266=) c.297+1058T>C c.228T>C (p.Val76=) | |
2 | g.51026444A>T | CA426106444 | NRXN1 | c.772+1058T>A (n.772+1058T>A) c.329+1058T>A n.66+1058T>A c.798T>A (p.Val266=) c.297+1058T>A c.228T>A (p.Val76=) | |
2 | g.51026445A>C | CA346823242 | NRXN1 | c.772+1057T>G (n.772+1057T>G) c.329+1057T>G n.66+1057T>G c.797T>G (p.Val266Gly) c.297+1057T>G c.227T>G (p.Val76Gly) | |
2 | g.51026445A>G | CA346823243 | NRXN1 | c.772+1057T>C (n.772+1057T>C) c.329+1057T>C n.66+1057T>C c.797T>C (p.Val266Ala) c.297+1057T>C c.227T>C (p.Val76Ala) | |
2 | g.51026445A>T | CA346823244 | NRXN1 | c.772+1057T>A (n.772+1057T>A) c.329+1057T>A n.66+1057T>A c.797T>A (p.Val266Asp) c.297+1057T>A c.227T>A (p.Val76Asp) | |
2 | g.51026446C>A | CA346823245 | NRXN1 | c.772+1056G>T (n.772+1056G>T) c.329+1056G>T n.66+1056G>T c.796G>T (p.Val266Phe) c.297+1056G>T c.226G>T (p.Val76Phe) | dbSNP |
2 | g.51026446C= | CA1249877847 | NRXN1 | c.772+1056G= (n.772+1056G=) c.329+1056G= n.66+1056G= c.796G= (p.Val266=) c.297+1056G= c.226G= (p.Val76=) | |
2 | g.51026446C>G | CA346823246 | NRXN1 | c.772+1056G>C (n.772+1056G>C) c.329+1056G>C n.66+1056G>C c.796G>C (p.Val266Leu) c.297+1056G>C c.226G>C (p.Val76Leu) | |
2 | g.51026446C>T | CA346823247 | NRXN1 | c.772+1056G>A (n.772+1056G>A) c.329+1056G>A n.66+1056G>A c.796G>A (p.Val266Ile) c.297+1056G>A c.226G>A (p.Val76Ile) | |
2 | g.51026447A>C | CA346823248 | NRXN1 | c.772+1055T>G (n.772+1055T>G) c.329+1055T>G n.66+1055T>G c.795T>G (p.Cys265Trp) c.297+1055T>G c.225T>G (p.Cys75Trp) | |
2 | g.51026447A>G | CA426106445 | NRXN1 | c.772+1055T>C (n.772+1055T>C) c.329+1055T>C n.66+1055T>C c.795T>C (p.Cys265=) c.297+1055T>C c.225T>C (p.Cys75=) | |
2 | g.51026447A>T | CA346823249 | NRXN1 | c.772+1055T>A (n.772+1055T>A) c.329+1055T>A n.66+1055T>A c.795T>A (p.Cys265Ter) c.297+1055T>A c.225T>A (p.Cys75Ter) | |
2 | g.51026448C>A | CA346823252 | NRXN1 | c.772+1054G>T (n.772+1054G>T) c.329+1054G>T n.66+1054G>T c.794G>T (p.Cys265Phe) c.297+1054G>T c.224G>T (p.Cys75Phe) | |
2 | g.51026448C= | CA1249877848 | NRXN1 | c.772+1054G= (n.772+1054G=) c.329+1054G= n.66+1054G= c.794G= (p.Cys265=) c.297+1054G= c.224G= (p.Cys75=) | |
2 | g.51026448C>G | CA346823250 | NRXN1 | c.772+1054G>C (n.772+1054G>C) c.329+1054G>C n.66+1054G>C c.794G>C (p.Cys265Ser) c.297+1054G>C c.224G>C (p.Cys75Ser) | |
2 | g.51026448C>T | CA346823251 | NRXN1 | c.772+1054G>A (n.772+1054G>A) c.329+1054G>A n.66+1054G>A c.794G>A (p.Cys265Tyr) c.297+1054G>A c.224G>A (p.Cys75Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026449A= | CA1249877849 | NRXN1 | c.772+1053T= (n.772+1053T=) c.329+1053T= n.66+1053T= c.793T= (p.Cys265=) c.297+1053T= c.223T= (p.Cys75=) | |
2 | g.51026449A>C | CA346823253 | NRXN1 | c.772+1053T>G (n.772+1053T>G) c.329+1053T>G n.66+1053T>G c.793T>G (p.Cys265Gly) c.297+1053T>G c.223T>G (p.Cys75Gly) | |
2 | g.51026449A>G | CA346823254 | NRXN1 | c.772+1053T>C (n.772+1053T>C) c.329+1053T>C n.66+1053T>C c.793T>C (p.Cys265Arg) c.297+1053T>C c.223T>C (p.Cys75Arg) | ClinVar dbSNP |
2 | g.51026449A>T | CA1655393 | NRXN1 | c.772+1053T>A (n.772+1053T>A) c.329+1053T>A n.66+1053T>A c.793T>A (p.Cys265Ser) c.297+1053T>A c.223T>A (p.Cys75Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026450C>A | CA346823255 | NRXN1 | c.772+1052G>T (n.772+1052G>T) c.329+1052G>T n.66+1052G>T c.792G>T (p.Gln264His) c.297+1052G>T c.222G>T (p.Gln74His) | gnomAD v4 |
2 | g.51026450C>G | CA346823256 | NRXN1 | c.772+1052G>C (n.772+1052G>C) c.329+1052G>C n.66+1052G>C c.792G>C (p.Gln264His) c.297+1052G>C c.222G>C (p.Gln74His) | |
2 | g.51026450C>T | CA426106446 | NRXN1 | c.772+1052G>A (n.772+1052G>A) c.329+1052G>A n.66+1052G>A c.792G>A (p.Gln264=) c.297+1052G>A c.222G>A (p.Gln74=) | gnomAD v4 |
2 | g.51026451T>A | CA346823257 | NRXN1 | c.772+1051A>T (n.772+1051A>T) c.329+1051A>T n.66+1051A>T c.791A>T (p.Gln264Leu) c.297+1051A>T c.221A>T (p.Gln74Leu) | |
2 | g.51026451T>C | CA48054735 | NRXN1 | c.772+1051A>G (n.772+1051A>G) c.329+1051A>G n.66+1051A>G c.791A>G (p.Gln264Arg) c.297+1051A>G c.221A>G (p.Gln74Arg) | dbSNP gnomAD v4 |
2 | g.51026451T>G | CA346823258 | NRXN1 | c.772+1051A>C (n.772+1051A>C) c.329+1051A>C n.66+1051A>C c.791A>C (p.Gln264Pro) c.297+1051A>C c.221A>C (p.Gln74Pro) | gnomAD v4 |
2 | g.51026451T= | CA1249877850 | NRXN1 | c.772+1051A= (n.772+1051A=) c.329+1051A= n.66+1051A= c.791A= (p.Gln264=) c.297+1051A= c.221A= (p.Gln74=) | |
2 | g.51026452G>A | CA346823259 | NRXN1 | c.772+1050C>T (n.772+1050C>T) c.329+1050C>T n.66+1050C>T c.790C>T (p.Gln264Ter) c.297+1050C>T c.220C>T (p.Gln74Ter) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.51026452G>C | CA346823260 | NRXN1 | c.772+1050C>G (n.772+1050C>G) c.329+1050C>G n.66+1050C>G c.790C>G (p.Gln264Glu) c.297+1050C>G c.220C>G (p.Gln74Glu) | |
2 | g.51026452G= | CA1249877851 | NRXN1 | c.772+1050C= (n.772+1050C=) c.329+1050C= n.66+1050C= c.790C= (p.Gln264=) c.297+1050C= c.220C= (p.Gln74=) | |
2 | g.51026452G>T | CA231337 | NRXN1 | c.772+1050C>A (n.772+1050C>A) c.329+1050C>A n.66+1050C>A c.790C>A (p.Gln264Lys) c.297+1050C>A c.220C>A (p.Gln74Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026453A>C | CA426106447 | NRXN1 | c.772+1049T>G (n.772+1049T>G) c.329+1049T>G n.66+1049T>G c.789T>G (p.Leu263=) c.297+1049T>G c.219T>G (p.Leu73=) | |
2 | g.51026453A>G | CA426106448 | NRXN1 | c.772+1049T>C (n.772+1049T>C) c.329+1049T>C n.66+1049T>C c.789T>C (p.Leu263=) c.297+1049T>C c.219T>C (p.Leu73=) | |
2 | g.51026453A>T | CA426106449 | NRXN1 | c.772+1049T>A (n.772+1049T>A) c.329+1049T>A n.66+1049T>A c.789T>A (p.Leu263=) c.297+1049T>A c.219T>A (p.Leu73=) | |
2 | g.51026454A>C | CA346823263 | NRXN1 | c.772+1048T>G (n.772+1048T>G) c.329+1048T>G n.66+1048T>G c.788T>G (p.Leu263Arg) c.297+1048T>G c.218T>G (p.Leu73Arg) | gnomAD v4 |
2 | g.51026454A>G | CA346823262 | NRXN1 | c.772+1048T>C (n.772+1048T>C) c.329+1048T>C n.66+1048T>C c.788T>C (p.Leu263Pro) c.297+1048T>C c.218T>C (p.Leu73Pro) | |
2 | g.51026454A>T | CA346823261 | NRXN1 | c.772+1048T>A (n.772+1048T>A) c.329+1048T>A n.66+1048T>A c.788T>A (p.Leu263His) c.297+1048T>A c.218T>A (p.Leu73His) | |
2 | g.51026455G>A | CA346823264 | NRXN1 | c.772+1047C>T (n.772+1047C>T) c.329+1047C>T n.66+1047C>T c.787C>T (p.Leu263Phe) c.297+1047C>T c.217C>T (p.Leu73Phe) | gnomAD v4 |
2 | g.51026455G>C | CA346823265 | NRXN1 | c.772+1047C>G (n.772+1047C>G) c.329+1047C>G n.66+1047C>G c.787C>G (p.Leu263Val) c.297+1047C>G c.217C>G (p.Leu73Val) | |
2 | g.51026455G= | CA1249877852 | NRXN1 | c.772+1047C= (n.772+1047C=) c.329+1047C= n.66+1047C= c.787C= (p.Leu263=) c.297+1047C= c.217C= (p.Leu73=) | |
2 | g.51026455G>T | CA1655394 | NRXN1 | c.772+1047C>A (n.772+1047C>A) c.329+1047C>A n.66+1047C>A c.787C>A (p.Leu263Ile) c.297+1047C>A c.217C>A (p.Leu73Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026456A>C | CA426106450 | NRXN1 | c.772+1046T>G (n.772+1046T>G) c.329+1046T>G n.66+1046T>G c.786T>G (p.Gly262=) c.297+1046T>G c.216T>G (p.Gly72=) | |
2 | g.51026456A>G | CA426106451 | NRXN1 | c.772+1046T>C (n.772+1046T>C) c.329+1046T>C n.66+1046T>C c.786T>C (p.Gly262=) c.297+1046T>C c.216T>C (p.Gly72=) | |
2 | g.51026456A>T | CA426106452 | NRXN1 | c.772+1046T>A (n.772+1046T>A) c.329+1046T>A n.66+1046T>A c.786T>A (p.Gly262=) c.297+1046T>A c.216T>A (p.Gly72=) | |
2 | g.51026457C>A | CA346823266 | NRXN1 | c.772+1045G>T (n.772+1045G>T) c.329+1045G>T n.66+1045G>T c.785G>T (p.Gly262Val) c.297+1045G>T c.215G>T (p.Gly72Val) | |
2 | g.51026457C= | CA1249877853 | NRXN1 | c.772+1045G= (n.772+1045G=) c.329+1045G= n.66+1045G= c.785G= (p.Gly262=) c.297+1045G= c.215G= (p.Gly72=) | |
2 | g.51026457C>G | CA346823267 | NRXN1 | c.772+1045G>C (n.772+1045G>C) c.329+1045G>C n.66+1045G>C c.785G>C (p.Gly262Ala) c.297+1045G>C c.215G>C (p.Gly72Ala) | |
2 | g.51026457C>T | CA48054736 | NRXN1 | c.772+1045G>A (n.772+1045G>A) c.329+1045G>A n.66+1045G>A c.785G>A (p.Gly262Asp) c.297+1045G>A c.215G>A (p.Gly72Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026458C>A | CA1655395 | NRXN1 | c.772+1044G>T (n.772+1044G>T) c.329+1044G>T n.66+1044G>T c.784G>T (p.Gly262Cys) c.297+1044G>T c.214G>T (p.Gly72Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.51026458C= | CA1249877854 | NRXN1 | c.772+1044G= (n.772+1044G=) c.329+1044G= n.66+1044G= c.784G= (p.Gly262=) c.297+1044G= c.214G= (p.Gly72=) | |
2 | g.51026458C>G | CA346823268 | NRXN1 | c.772+1044G>C (n.772+1044G>C) c.329+1044G>C n.66+1044G>C c.784G>C (p.Gly262Arg) c.297+1044G>C c.214G>C (p.Gly72Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.51026458C>T | CA346823269 | NRXN1 | c.772+1044G>A (n.772+1044G>A) c.329+1044G>A n.66+1044G>A c.784G>A (p.Gly262Ser) c.297+1044G>A c.214G>A (p.Gly72Ser) | gnomAD v4 |
2 | g.51026459G>A | CA426106453 | NRXN1 | c.772+1043C>T (n.772+1043C>T) c.329+1043C>T n.66+1043C>T c.783C>T (p.Phe261=) c.297+1043C>T c.213C>T (p.Phe71=) | gnomAD v4 |
2 | g.51026459G>C | CA346823270 | NRXN1 | c.772+1043C>G (n.772+1043C>G) c.329+1043C>G n.66+1043C>G c.783C>G (p.Phe261Leu) c.297+1043C>G c.213C>G (p.Phe71Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026459G= | CA1249877855 | NRXN1 | c.772+1043C= (n.772+1043C=) c.329+1043C= n.66+1043C= c.783C= (p.Phe261=) c.297+1043C= c.213C= (p.Phe71=) | |
2 | g.51026459G>T | CA346823271 | NRXN1 | c.772+1043C>A (n.772+1043C>A) c.329+1043C>A n.66+1043C>A c.783C>A (p.Phe261Leu) c.297+1043C>A c.213C>A (p.Phe71Leu) | ClinVar gnomAD v4 |
2 | g.51026460A>C | CA346823272 | NRXN1 | c.772+1042T>G (n.772+1042T>G) c.329+1042T>G n.66+1042T>G c.782T>G (p.Phe261Cys) c.297+1042T>G c.212T>G (p.Phe71Cys) | |
2 | g.51026460A>G | CA346823273 | NRXN1 | c.772+1042T>C (n.772+1042T>C) c.329+1042T>C n.66+1042T>C c.782T>C (p.Phe261Ser) c.297+1042T>C c.212T>C (p.Phe71Ser) | |
2 | g.51026460A>T | CA346823274 | NRXN1 | c.772+1042T>A (n.772+1042T>A) c.329+1042T>A n.66+1042T>A c.782T>A (p.Phe261Tyr) c.297+1042T>A c.212T>A (p.Phe71Tyr) | |
2 | g.51026461A>C | CA346823275 | NRXN1 | c.772+1041T>G (n.772+1041T>G) c.329+1041T>G n.66+1041T>G c.781T>G (p.Phe261Val) c.297+1041T>G c.211T>G (p.Phe71Val) | |
2 | g.51026461A>G | CA346823277 | NRXN1 | c.772+1041T>C (n.772+1041T>C) c.329+1041T>C n.66+1041T>C c.781T>C (p.Phe261Leu) c.297+1041T>C c.211T>C (p.Phe71Leu) | |
2 | g.51026461A>T | CA346823276 | NRXN1 | c.772+1041T>A (n.772+1041T>A) c.329+1041T>A n.66+1041T>A c.781T>A (p.Phe261Ile) c.297+1041T>A c.211T>A (p.Phe71Ile) | |
2 | g.51026462T>A | CA316169 | NRXN1 | c.772+1040A>T (n.772+1040A>T) c.329+1040A>T n.66+1040A>T c.780A>T (p.Lys260Asn) c.297+1040A>T c.210A>T (p.Lys70Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026462T>C | CA48054737 | NRXN1 | c.772+1040A>G (n.772+1040A>G) c.329+1040A>G n.66+1040A>G c.780A>G (p.Lys260=) c.297+1040A>G c.210A>G (p.Lys70=) | dbSNP |
2 | g.51026462T>G | CA346823278 | NRXN1 | c.772+1040A>C (n.772+1040A>C) c.329+1040A>C n.66+1040A>C c.780A>C (p.Lys260Asn) c.297+1040A>C c.210A>C (p.Lys70Asn) | |
2 | g.51026462T= | CA1249877856 | NRXN1 | c.772+1040A= (n.772+1040A=) c.329+1040A= n.66+1040A= c.780A= (p.Lys260=) c.297+1040A= c.210A= (p.Lys70=) | |
2 | g.51026465del | CA2659012557 | NRXN1 | c.772+1040del (n.772+1040del) c.329+1040del n.66+1040del c.780del (p.Lys260AsnfsTer23) c.297+1040del c.210del (p.Lys70AsnfsTer23) | gnomAD v4 |
2 | g.51026463T>A | CA346823279 | NRXN1 | c.772+1039A>T (n.772+1039A>T) c.329+1039A>T n.66+1039A>T c.779A>T (p.Lys260Ile) c.297+1039A>T c.209A>T (p.Lys70Ile) | |
2 | g.51026463T>C | CA346823280 | NRXN1 | c.772+1039A>G (n.772+1039A>G) c.329+1039A>G n.66+1039A>G c.779A>G (p.Lys260Arg) c.297+1039A>G c.209A>G (p.Lys70Arg) | |
2 | g.51026463T>G | CA346823281 | NRXN1 | c.772+1039A>C (n.772+1039A>C) c.329+1039A>C n.66+1039A>C c.779A>C (p.Lys260Thr) c.297+1039A>C c.209A>C (p.Lys70Thr) | gnomAD v4 |
2 | g.51026464T>A | CA346823282 | NRXN1 | c.772+1038A>T (n.772+1038A>T) c.329+1038A>T n.66+1038A>T c.778A>T (p.Lys260Ter) c.297+1038A>T c.208A>T (p.Lys70Ter) | |
2 | g.51026464T>C | CA346823283 | NRXN1 | c.772+1038A>G (n.772+1038A>G) c.329+1038A>G n.66+1038A>G c.778A>G (p.Lys260Glu) c.297+1038A>G c.208A>G (p.Lys70Glu) | |
2 | g.51026464T>G | CA346823284 | NRXN1 | c.772+1038A>C (n.772+1038A>C) c.329+1038A>C n.66+1038A>C c.778A>C (p.Lys260Gln) c.297+1038A>C c.208A>C (p.Lys70Gln) | |
2 | g.51026464_51026465insA | CA2659012558 | NRXN1 | c.772+1037_772+1038insT (n.772+1037_772+1038insT) c.329+1037_329+1038insT n.66+1037_66+1038insT c.777_778insT (p.Lys260Ter) c.297+1037_297+1038insT c.207_208insT (p.Lys70Ter) | gnomAD v4 |
2 | g.51026465T>A | CA426106454 | NRXN1 | c.772+1037A>T (n.772+1037A>T) c.329+1037A>T n.66+1037A>T c.777A>T (p.Ile259=) c.297+1037A>T c.207A>T (p.Ile69=) | gnomAD v4 |
2 | g.51026465T>C | CA346823285 | NRXN1 | c.772+1037A>G (n.772+1037A>G) c.329+1037A>G n.66+1037A>G c.777A>G (p.Ile259Met) c.297+1037A>G c.207A>G (p.Ile69Met) | |
2 | g.51026465T>G | CA426106455 | NRXN1 | c.772+1037A>C (n.772+1037A>C) c.329+1037A>C n.66+1037A>C c.777A>C (p.Ile259=) c.297+1037A>C c.207A>C (p.Ile69=) | |
2 | g.51026466A>C | CA346823286 | NRXN1 | c.772+1036T>G (n.772+1036T>G) c.329+1036T>G n.66+1036T>G c.776T>G (p.Ile259Arg) c.297+1036T>G c.206T>G (p.Ile69Arg) | |
2 | g.51026466A>G | CA346823288 | NRXN1 | c.772+1036T>C (n.772+1036T>C) c.329+1036T>C n.66+1036T>C c.776T>C (p.Ile259Thr) c.297+1036T>C c.206T>C (p.Ile69Thr) | |
2 | g.51026466A>T | CA346823287 | NRXN1 | c.772+1036T>A (n.772+1036T>A) c.329+1036T>A n.66+1036T>A c.776T>A (p.Ile259Lys) c.297+1036T>A c.206T>A (p.Ile69Lys) | |
2 | g.51026467T>A | CA346823289 | NRXN1 | c.772+1035A>T (n.772+1035A>T) c.329+1035A>T n.66+1035A>T c.775A>T (p.Ile259Leu) c.297+1035A>T c.205A>T (p.Ile69Leu) | |
2 | g.51026467T>C | CA346823291 | NRXN1 | c.772+1035A>G (n.772+1035A>G) c.329+1035A>G n.66+1035A>G c.775A>G (p.Ile259Val) c.297+1035A>G c.205A>G (p.Ile69Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026467T>G | CA346823290 | NRXN1 | c.772+1035A>C (n.772+1035A>C) c.329+1035A>C n.66+1035A>C c.775A>C (p.Ile259Leu) c.297+1035A>C c.205A>C (p.Ile69Leu) | |
2 | g.51026467T= | CA1249877857 | NRXN1 | c.772+1035A= (n.772+1035A=) c.329+1035A= n.66+1035A= c.775A= (p.Ile259=) c.297+1035A= c.205A= (p.Ile69=) | |
2 | g.51026468T>A | CA346823292 | NRXN1 | c.772+1034A>T (n.772+1034A>T) c.329+1034A>T n.66+1034A>T c.774A>T (p.Glu258Asp) c.297+1034A>T c.204A>T (p.Glu68Asp) | |
2 | g.51026468T>C | CA426106456 | NRXN1 | c.772+1034A>G (n.772+1034A>G) c.329+1034A>G n.66+1034A>G c.774A>G (p.Glu258=) c.297+1034A>G c.204A>G (p.Glu68=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026468T>G | CA346823293 | NRXN1 | c.772+1034A>C (n.772+1034A>C) c.329+1034A>C n.66+1034A>C c.774A>C (p.Glu258Asp) c.297+1034A>C c.204A>C (p.Glu68Asp) | |
2 | g.51026468T= | CA1249877858 | NRXN1 | c.772+1034A= (n.772+1034A=) c.329+1034A= n.66+1034A= c.774A= (p.Glu258=) c.297+1034A= c.204A= (p.Glu68=) | |
2 | g.51026469T>A | CA346823294 | NRXN1 | c.772+1033A>T (n.772+1033A>T) c.329+1033A>T n.66+1033A>T c.773A>T (p.Glu258Val) c.297+1033A>T c.203A>T (p.Glu68Val) | |
2 | g.51026469T>C | CA346823295 | NRXN1 | c.772+1033A>G (n.772+1033A>G) c.329+1033A>G n.66+1033A>G c.773A>G (p.Glu258Gly) c.297+1033A>G c.203A>G (p.Glu68Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.51026469T>G | CA1655396 | NRXN1 | c.772+1033A>C (n.772+1033A>C) c.329+1033A>C n.66+1033A>C c.773A>C (p.Glu258Ala) c.297+1033A>C c.203A>C (p.Glu68Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026469T= | CA1249877859 | NRXN1 | c.772+1033A= (n.772+1033A=) c.329+1033A= n.66+1033A= c.773A= (p.Glu258=) c.297+1033A= c.203A= (p.Glu68=) | |
2 | g.51026470C>A | CA346823296 | NRXN1 | c.772+1032G>T (n.772+1032G>T) c.329+1032G>T n.66+1032G>T c.773-1G>T (n.773-1G>T) c.297+1032G>T c.203-1G>T (n.203-1G>T) | gnomAD v4 |
2 | g.51026470C= | CA1249877860 | NRXN1 | c.772+1032G= (n.772+1032G=) c.329+1032G= n.66+1032G= c.773-1G= (n.773-1G=) c.297+1032G= c.203-1G= (n.203-1G=) | |
2 | g.51026470C>G | CA346823297 | NRXN1 | c.772+1032G>C (n.772+1032G>C) c.329+1032G>C n.66+1032G>C c.773-1G>C (n.773-1G>C) c.297+1032G>C c.203-1G>C (n.203-1G>C) | |
2 | g.51026470C>T | CA1655397 | NRXN1 | c.772+1032G>A (n.772+1032G>A) c.329+1032G>A n.66+1032G>A c.773-1G>A (n.773-1G>A) c.297+1032G>A c.203-1G>A (n.203-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026471T>A | CA346823298 | NRXN1 | c.772+1031A>T (n.772+1031A>T) c.329+1031A>T n.66+1031A>T c.773-2A>T (n.773-2A>T) c.297+1031A>T c.203-2A>T (n.203-2A>T) | |
2 | g.51026471T>C | CA346823299 | NRXN1 | c.772+1031A>G (n.772+1031A>G) c.329+1031A>G n.66+1031A>G c.773-2A>G (n.773-2A>G) c.297+1031A>G c.203-2A>G (n.203-2A>G) | gnomAD v4 |
2 | g.51026471T>G | CA346823300 | NRXN1 | c.772+1031A>C (n.772+1031A>C) c.329+1031A>C n.66+1031A>C c.773-2A>C (n.773-2A>C) c.297+1031A>C c.203-2A>C (n.203-2A>C) | |
2 | g.51026472A>G | CA2659012559 | NRXN1 | c.772+1030T>C (n.772+1030T>C) c.329+1030T>C n.66+1030T>C c.773-3T>C (n.773-3T>C) c.297+1030T>C c.203-3T>C (n.203-3T>C) | gnomAD v4 |
2 | g.51026474del | CA2576965072 | NRXN1 | c.772+1030del (n.772+1030del) c.329+1030del n.66+1030del c.773-3del (n.773-3del) c.297+1030del c.203-3del (n.203-3del) | |
2 | g.51026473A>G | CA2659012560 | NRXN1 | c.772+1029T>C (n.772+1029T>C) c.329+1029T>C n.66+1029T>C c.773-4T>C (n.773-4T>C) c.297+1029T>C c.203-4T>C (n.203-4T>C) | gnomAD v4 |
2 | g.51026474A= | CA1249877861 | NRXN1 | c.772+1028T= (n.772+1028T=) c.329+1028T= n.66+1028T= c.773-5T= (n.773-5T=) c.297+1028T= c.203-5T= (n.203-5T=) | |
2 | g.51026474A>G | CA48054738 | NRXN1 | c.772+1028T>C (n.772+1028T>C) c.329+1028T>C n.66+1028T>C c.773-5T>C (n.773-5T>C) c.297+1028T>C c.203-5T>C (n.203-5T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026474A>T | CA2659012561 | NRXN1 | c.772+1028T>A (n.772+1028T>A) c.329+1028T>A n.66+1028T>A c.773-5T>A (n.773-5T>A) c.297+1028T>A c.203-5T>A (n.203-5T>A) | gnomAD v4 |
2 | g.51026475G>A | CA2576965073 | NRXN1 | c.772+1027C>T (n.772+1027C>T) c.329+1027C>T n.66+1027C>T c.773-6C>T (n.773-6C>T) c.297+1027C>T c.203-6C>T (n.203-6C>T) | |
2 | g.51026475G>T | CA2659012562 | NRXN1 | c.772+1027C>A (n.772+1027C>A) c.329+1027C>A n.66+1027C>A c.773-6C>A (n.773-6C>A) c.297+1027C>A c.203-6C>A (n.203-6C>A) | gnomAD v4 |
2 | g.51026477G>A | CA2659012563 | NRXN1 | c.772+1025C>T (n.772+1025C>T) c.329+1025C>T n.66+1025C>T c.773-8C>T (n.773-8C>T) c.297+1025C>T c.203-8C>T (n.203-8C>T) | gnomAD v4 |
2 | g.51026477G>T | CA2659012564 | NRXN1 | c.772+1025C>A (n.772+1025C>A) c.329+1025C>A n.66+1025C>A c.773-8C>A (n.773-8C>A) c.297+1025C>A c.203-8C>A (n.203-8C>A) | gnomAD v4 |
2 | g.51026478G>A | CA532659847 | NRXN1 | c.772+1024C>T (n.772+1024C>T) c.329+1024C>T n.66+1024C>T c.773-9C>T (n.773-9C>T) c.297+1024C>T c.203-9C>T (n.203-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026478G>C | CA205964 | NRXN1 | c.772+1024C>G (n.772+1024C>G) c.329+1024C>G n.66+1024C>G c.773-9C>G (n.773-9C>G) c.297+1024C>G c.203-9C>G (n.203-9C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026478G= | CA1249877862 | NRXN1 | c.772+1024C= (n.772+1024C=) c.329+1024C= n.66+1024C= c.773-9C= (n.773-9C=) c.297+1024C= c.203-9C= (n.203-9C=) | |
2 | g.51026478G>T | CA2659012565 | NRXN1 | c.772+1024C>A (n.772+1024C>A) c.329+1024C>A n.66+1024C>A c.773-9C>A (n.773-9C>A) c.297+1024C>A c.203-9C>A (n.203-9C>A) | gnomAD v4 |
2 | g.51026479del | CA2659012566 | NRXN1 | c.772+1023del (n.772+1023del) c.329+1023del n.66+1023del c.773-10del (n.773-10del) c.297+1023del c.203-10del (n.203-10del) | gnomAD v4 |
2 | g.51026479A>G | CA2659012567 | NRXN1 | c.772+1023T>C (n.772+1023T>C) c.329+1023T>C n.66+1023T>C c.773-10T>C (n.773-10T>C) c.297+1023T>C c.203-10T>C (n.203-10T>C) | gnomAD v4 |
2 | g.51026480G>A | CA769808837 | NRXN1 | c.772+1022C>T (n.772+1022C>T) c.329+1022C>T n.66+1022C>T c.773-11C>T (n.773-11C>T) c.297+1022C>T c.203-11C>T (n.203-11C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026480G>C | CA1030546961 | NRXN1 | c.772+1022C>G (n.772+1022C>G) c.329+1022C>G n.66+1022C>G c.773-11C>G (n.773-11C>G) c.297+1022C>G c.203-11C>G (n.203-11C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026480G= | CA1249877863 | NRXN1 | c.772+1022C= (n.772+1022C=) c.329+1022C= n.66+1022C= c.773-11C= (n.773-11C=) c.297+1022C= c.203-11C= (n.203-11C=) | |
2 | g.51026480G>T | CA2659012568 | NRXN1 | c.772+1022C>A (n.772+1022C>A) c.329+1022C>A n.66+1022C>A c.773-11C>A (n.773-11C>A) c.297+1022C>A c.203-11C>A (n.203-11C>A) | gnomAD v4 |
2 | g.51026484A>G | CA2659012569 | NRXN1 | c.772+1018T>C (n.772+1018T>C) c.329+1018T>C n.66+1018T>C c.773-15T>C (n.773-15T>C) c.297+1018T>C c.203-15T>C (n.203-15T>C) | gnomAD v4 |
2 | g.51026484A>T | CA2659012570 | NRXN1 | c.772+1018T>A (n.772+1018T>A) c.329+1018T>A n.66+1018T>A c.773-15T>A (n.773-15T>A) c.297+1018T>A c.203-15T>A (n.203-15T>A) | gnomAD v4 |
2 | g.51026485G>C | CA2573134993 | NRXN1 | c.772+1017C>G (n.772+1017C>G) c.329+1017C>G n.66+1017C>G c.773-16C>G (n.773-16C>G) c.297+1017C>G c.203-16C>G (n.203-16C>G) | ClinVar dbSNP gnomAD v4 |
2 | g.51026486A>G | CA2659012571 | NRXN1 | c.772+1016T>C (n.772+1016T>C) c.329+1016T>C n.66+1016T>C c.773-17T>C (n.773-17T>C) c.297+1016T>C c.203-17T>C (n.203-17T>C) | gnomAD v4 |
2 | g.51026486A>T | CA2659012572 | NRXN1 | c.772+1016T>A (n.772+1016T>A) c.329+1016T>A n.66+1016T>A c.773-17T>A (n.773-17T>A) c.297+1016T>A c.203-17T>A (n.203-17T>A) | gnomAD v4 |
2 | g.51026487G>A | CA2659012573 | NRXN1 | c.772+1015C>T (n.772+1015C>T) c.329+1015C>T n.66+1015C>T c.773-18C>T (n.773-18C>T) c.297+1015C>T c.203-18C>T (n.203-18C>T) | gnomAD v4 |
2 | g.51026487G= | CA1249877864 | NRXN1 | c.772+1015C= (n.772+1015C=) c.329+1015C= n.66+1015C= c.773-18C= (n.773-18C=) c.297+1015C= c.203-18C= (n.203-18C=) | |
2 | g.51026487G>T | CA1655398 | NRXN1 | c.772+1015C>A (n.772+1015C>A) c.329+1015C>A n.66+1015C>A c.773-18C>A (n.773-18C>A) c.297+1015C>A c.203-18C>A (n.203-18C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026488A>T | CA2659012574 | NRXN1 | c.772+1014T>A (n.772+1014T>A) c.329+1014T>A n.66+1014T>A c.773-19T>A (n.773-19T>A) c.297+1014T>A c.203-19T>A (n.203-19T>A) | gnomAD v4 |
2 | g.51026490C>A | CA2659012576 | NRXN1 | c.772+1012G>T (n.772+1012G>T) c.329+1012G>T n.66+1012G>T c.773-21G>T (n.773-21G>T) c.297+1012G>T c.203-21G>T (n.203-21G>T) | gnomAD v4 |
2 | g.51026490C= | CA1249877865 | NRXN1 | c.772+1012G= (n.772+1012G=) c.329+1012G= n.66+1012G= c.773-21G= (n.773-21G=) c.297+1012G= c.203-21G= (n.203-21G=) | |
2 | g.51026490C>G | CA1030546967 | NRXN1 | c.772+1012G>C (n.772+1012G>C) c.329+1012G>C n.66+1012G>C c.773-21G>C (n.773-21G>C) c.297+1012G>C c.203-21G>C (n.203-21G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026490C>T | CA2659012575 | NRXN1 | c.772+1012G>A (n.772+1012G>A) c.329+1012G>A n.66+1012G>A c.773-21G>A (n.773-21G>A) c.297+1012G>A c.203-21G>A (n.203-21G>A) | gnomAD v4 |
2 | g.51026491T>C | CA1655399 | NRXN1 | c.772+1011A>G (n.772+1011A>G) c.329+1011A>G n.66+1011A>G c.773-22A>G (n.773-22A>G) c.297+1011A>G c.203-22A>G (n.203-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.51026491T= | CA1249877866 | NRXN1 | c.772+1011A= (n.772+1011A=) c.329+1011A= n.66+1011A= c.773-22A= (n.773-22A=) c.297+1011A= c.203-22A= (n.203-22A=) | |
2 | g.51026492T>A | CA1655400 | NRXN1 | c.772+1010A>T (n.772+1010A>T) c.329+1010A>T n.66+1010A>T c.773-23A>T (n.773-23A>T) c.297+1010A>T c.203-23A>T (n.203-23A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026492T>C | CA2659012577 | NRXN1 | c.772+1010A>G (n.772+1010A>G) c.329+1010A>G n.66+1010A>G c.773-23A>G (n.773-23A>G) c.297+1010A>G c.203-23A>G (n.203-23A>G) | gnomAD v4 |
2 | g.51026492T= | CA1249877867 | NRXN1 | c.772+1010A= (n.772+1010A=) c.329+1010A= n.66+1010A= c.773-23A= (n.773-23A=) c.297+1010A= c.203-23A= (n.203-23A=) | |
2 | g.51026493A>G | CA2576965074 | NRXN1 | c.772+1009T>C (n.772+1009T>C) c.329+1009T>C n.66+1009T>C c.773-24T>C (n.773-24T>C) c.297+1009T>C c.203-24T>C (n.203-24T>C) | |
2 | g.51026494G>A | CA532659848 | NRXN1 | c.772+1008C>T (n.772+1008C>T) c.329+1008C>T n.66+1008C>T c.773-25C>T (n.773-25C>T) c.297+1008C>T c.203-25C>T (n.203-25C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026494G>C | CA1249877868 | NRXN1 | c.772+1008C>G (n.772+1008C>G) c.329+1008C>G n.66+1008C>G c.773-25C>G (n.773-25C>G) c.297+1008C>G c.203-25C>G (n.203-25C>G) | dbSNP gnomAD v4 |
2 | g.51026494G= | CA1249877869 | NRXN1 | c.772+1008C= (n.772+1008C=) c.329+1008C= n.66+1008C= c.773-25C= (n.773-25C=) c.297+1008C= c.203-25C= (n.203-25C=) | |
2 | g.51026494G>T | CA914398286 | NRXN1 | c.772+1008C>A (n.772+1008C>A) c.329+1008C>A n.66+1008C>A c.773-25C>A (n.773-25C>A) c.297+1008C>A c.203-25C>A (n.203-25C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026495G>A | CA532659849 | NRXN1 | c.772+1007C>T (n.772+1007C>T) c.329+1007C>T n.66+1007C>T c.773-26C>T (n.773-26C>T) c.297+1007C>T c.203-26C>T (n.203-26C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026495G= | CA1249877870 | NRXN1 | c.772+1007C= (n.772+1007C=) c.329+1007C= n.66+1007C= c.773-26C= (n.773-26C=) c.297+1007C= c.203-26C= (n.203-26C=) | |
2 | g.51026495G>T | CA2659012578 | NRXN1 | c.772+1007C>A (n.772+1007C>A) c.329+1007C>A n.66+1007C>A c.773-26C>A (n.773-26C>A) c.297+1007C>A c.203-26C>A (n.203-26C>A) | gnomAD v4 |
2 | g.51026496T>C | CA48054739 | NRXN1 | c.772+1006A>G (n.772+1006A>G) c.329+1006A>G n.66+1006A>G c.773-27A>G (n.773-27A>G) c.297+1006A>G c.203-27A>G (n.203-27A>G) | dbSNP gnomAD v4 |
2 | g.51026496T= | CA1249877871 | NRXN1 | c.772+1006A= (n.772+1006A=) c.329+1006A= n.66+1006A= c.773-27A= (n.773-27A=) c.297+1006A= c.203-27A= (n.203-27A=) | |
2 | g.51026497A>G | CA2659012579 | NRXN1 | c.772+1005T>C (n.772+1005T>C) c.329+1005T>C n.66+1005T>C c.773-28T>C (n.773-28T>C) c.297+1005T>C c.203-28T>C (n.203-28T>C) | gnomAD v4 |
2 | g.51026498T>G | CA2659012580 | NRXN1 | c.772+1004A>C (n.772+1004A>C) c.329+1004A>C n.66+1004A>C c.773-29A>C (n.773-29A>C) c.297+1004A>C c.203-29A>C (n.203-29A>C) | gnomAD v4 |
2 | g.51026499G>A | CA48054740 | NRXN1 | c.772+1003C>T (n.772+1003C>T) c.329+1003C>T n.66+1003C>T c.773-30C>T (n.773-30C>T) c.297+1003C>T c.203-30C>T (n.203-30C>T) | dbSNP gnomAD v4 |
2 | g.51026499G= | CA1249877872 | NRXN1 | c.772+1003C= (n.772+1003C=) c.329+1003C= n.66+1003C= c.773-30C= (n.773-30C=) c.297+1003C= c.203-30C= (n.203-30C=) | |
2 | g.51026499G>T | CA2659012581 | NRXN1 | c.772+1003C>A (n.772+1003C>A) c.329+1003C>A n.66+1003C>A c.773-30C>A (n.773-30C>A) c.297+1003C>A c.203-30C>A (n.203-30C>A) | gnomAD v4 |
2 | g.51026500A= | CA1249877873 | NRXN1 | c.772+1002T= (n.772+1002T=) c.329+1002T= n.66+1002T= c.773-31T= (n.773-31T=) c.297+1002T= c.203-31T= (n.203-31T=) | |
2 | g.51026500A>C | CA48054741 | NRXN1 | c.772+1002T>G (n.772+1002T>G) c.329+1002T>G n.66+1002T>G c.773-31T>G (n.773-31T>G) c.297+1002T>G c.203-31T>G (n.203-31T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026501del | CA2659012582 | NRXN1 | c.772+1001del (n.772+1001del) c.329+1001del n.66+1001del c.773-32del (n.773-32del) c.297+1001del c.203-32del (n.203-32del) | gnomAD v4 |
2 | g.51026501C>A | CA769809073 | NRXN1 | c.772+1001G>T (n.772+1001G>T) c.329+1001G>T n.66+1001G>T c.773-32G>T (n.773-32G>T) c.297+1001G>T c.203-32G>T (n.203-32G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026501C= | CA1249877874 | NRXN1 | c.772+1001G= (n.772+1001G=) c.329+1001G= n.66+1001G= c.773-32G= (n.773-32G=) c.297+1001G= c.203-32G= (n.203-32G=) | |
2 | g.51026501C>T | CA2659012583 | NRXN1 | c.772+1001G>A (n.772+1001G>A) c.329+1001G>A n.66+1001G>A c.773-32G>A (n.773-32G>A) c.297+1001G>A c.203-32G>A (n.203-32G>A) | gnomAD v4 |
2 | g.51026505dup | CA2659012584 | NRXN1 | c.772+1000dup (n.772+1000dup) c.329+1000dup n.66+1000dup c.773-33dup (n.773-33dup) c.297+1000dup c.203-33dup (n.203-33dup) | gnomAD v4 |
2 | g.51026504T>C | CA1655401 | NRXN1 | c.772+998A>G (n.772+998A>G) c.329+998A>G n.66+998A>G c.773-35A>G (n.773-35A>G) c.297+998A>G c.203-35A>G (n.203-35A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026504T= | CA1249877875 | NRXN1 | c.772+998A= (n.772+998A=) c.329+998A= n.66+998A= c.773-35A= (n.773-35A=) c.297+998A= c.203-35A= (n.203-35A=) | |
2 | g.51026505T>C | CA2659012585 | NRXN1 | c.772+997A>G (n.772+997A>G) c.329+997A>G n.66+997A>G c.773-36A>G (n.773-36A>G) c.297+997A>G c.203-36A>G (n.203-36A>G) | gnomAD v4 |
2 | g.51026505T>G | CA1249877877 | NRXN1 | c.772+997A>C (n.772+997A>C) c.329+997A>C n.66+997A>C c.773-36A>C (n.773-36A>C) c.297+997A>C c.203-36A>C (n.203-36A>C) | dbSNP gnomAD v4 |
2 | g.51026505T= | CA1249877876 | NRXN1 | c.772+997A= (n.772+997A=) c.329+997A= n.66+997A= c.773-36A= (n.773-36A=) c.297+997A= c.203-36A= (n.203-36A=) | |
2 | g.51026506G>T | CA2659012586 | NRXN1 | c.772+996C>A (n.772+996C>A) c.329+996C>A n.66+996C>A c.773-37C>A (n.773-37C>A) c.297+996C>A c.203-37C>A (n.203-37C>A) | gnomAD v4 |
2 | g.51026507T>C | CA48054742 | NRXN1 | c.772+995A>G (n.772+995A>G) c.329+995A>G n.66+995A>G c.773-38A>G (n.773-38A>G) c.297+995A>G c.203-38A>G (n.203-38A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026507T= | CA1249877878 | NRXN1 | c.772+995A= (n.772+995A=) c.329+995A= n.66+995A= c.773-38A= (n.773-38A=) c.297+995A= c.203-38A= (n.203-38A=) | |
2 | g.51026508A>G | CA2659012587 | NRXN1 | c.772+994T>C (n.772+994T>C) c.329+994T>C n.66+994T>C c.773-39T>C (n.773-39T>C) c.297+994T>C c.203-39T>C (n.203-39T>C) | gnomAD v4 |
2 | g.51026509G>A | CA2659012588 | NRXN1 | c.772+993C>T (n.772+993C>T) c.329+993C>T n.66+993C>T c.773-40C>T (n.773-40C>T) c.297+993C>T c.203-40C>T (n.203-40C>T) | gnomAD v4 |
2 | g.51026509G>T | CA2659012589 | NRXN1 | c.772+993C>A (n.772+993C>A) c.329+993C>A n.66+993C>A c.773-40C>A (n.773-40C>A) c.297+993C>A c.203-40C>A (n.203-40C>A) | gnomAD v4 |
2 | g.51026511T>G | CA1249877880 | NRXN1 | c.772+991A>C (n.772+991A>C) c.329+991A>C n.66+991A>C c.773-42A>C (n.773-42A>C) c.297+991A>C c.203-42A>C (n.203-42A>C) | dbSNP |
2 | g.51026511T= | CA1249877879 | NRXN1 | c.772+991A= (n.772+991A=) c.329+991A= n.66+991A= c.773-42A= (n.773-42A=) c.297+991A= c.203-42A= (n.203-42A=) | |
2 | g.51026512T>C | CA1249877882 | NRXN1 | c.772+990A>G (n.772+990A>G) c.329+990A>G n.66+990A>G c.773-43A>G (n.773-43A>G) c.297+990A>G c.203-43A>G (n.203-43A>G) | dbSNP |
2 | g.51026512T= | CA1249877881 | NRXN1 | c.772+990A= (n.772+990A=) c.329+990A= n.66+990A= c.773-43A= (n.773-43A=) c.297+990A= c.203-43A= (n.203-43A=) |