Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.51026309_51026311delinsACT | CA1249877767 | NRXN1 | c.772+1191_772+1193delinsAGT (n.772+1191_772+1193delinsAGT) c.329+1191_329+1193delinsAGT n.66+1191_66+1193delinsAGT c.871+60_871+62delinsAGT (n.871+60_871+62delinsAGT) c.297+1191_297+1193delinsAGT c.301+60_301+62delinsAGT (n.301+60_301+62delinsAGT) | |
2 | g.51026311_51028334del | CA1139657030 | NRXN1 | c.-59_772+1193del c.-59_871+62del | ClinVar |
2 | g.51026310_51026311del | CA48054729 | NRXN1 | c.772+1191_772+1192del (n.772+1191_772+1192del) c.329+1191_329+1192del n.66+1191_66+1192del c.871+60_871+61del (n.871+60_871+61del) c.297+1191_297+1192del c.301+60_301+61del (n.301+60_301+61del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026311T>C | CA2659012519 | NRXN1 | c.772+1191A>G (n.772+1191A>G) c.329+1191A>G n.66+1191A>G c.871+60A>G (n.871+60A>G) c.297+1191A>G c.301+60A>G (n.301+60A>G) | gnomAD v4 |
2 | g.51026312T>C | CA2659012520 | NRXN1 | c.772+1190A>G (n.772+1190A>G) c.329+1190A>G n.66+1190A>G c.871+59A>G (n.871+59A>G) c.297+1190A>G c.301+59A>G (n.301+59A>G) | gnomAD v4 |
2 | g.51026314A>T | CA2576965066 | NRXN1 | c.772+1188T>A (n.772+1188T>A) c.329+1188T>A n.66+1188T>A c.871+57T>A (n.871+57T>A) c.297+1188T>A c.301+57T>A (n.301+57T>A) | |
2 | g.51026316del | CA2576965065 | NRXN1 | c.772+1188del (n.772+1188del) c.329+1188del n.66+1188del c.871+57del (n.871+57del) c.297+1188del c.301+57del (n.301+57del) | |
2 | g.51026317T>C | CA769808388 | NRXN1 | c.772+1185A>G (n.772+1185A>G) c.329+1185A>G n.66+1185A>G c.871+54A>G (n.871+54A>G) c.297+1185A>G c.301+54A>G (n.301+54A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026317T= | CA1249877770 | NRXN1 | c.772+1185A= (n.772+1185A=) c.329+1185A= n.66+1185A= c.871+54A= (n.871+54A=) c.297+1185A= c.301+54A= (n.301+54A=) | |
2 | g.51026319C>A | CA2659012522 | NRXN1 | c.772+1183G>T (n.772+1183G>T) c.329+1183G>T n.66+1183G>T c.871+52G>T (n.871+52G>T) c.297+1183G>T c.301+52G>T (n.301+52G>T) | gnomAD v4 |
2 | g.51026319C>T | CA2659012521 | NRXN1 | c.772+1183G>A (n.772+1183G>A) c.329+1183G>A n.66+1183G>A c.871+52G>A (n.871+52G>A) c.297+1183G>A c.301+52G>A (n.301+52G>A) | gnomAD v4 |
2 | g.51026320T>C | CA2659012523 | NRXN1 | c.772+1182A>G (n.772+1182A>G) c.329+1182A>G n.66+1182A>G c.871+51A>G (n.871+51A>G) c.297+1182A>G c.301+51A>G (n.301+51A>G) | gnomAD v4 |
2 | g.51026321G>T | CA2576965067 | NRXN1 | c.772+1181C>A (n.772+1181C>A) c.329+1181C>A n.66+1181C>A c.871+50C>A (n.871+50C>A) c.297+1181C>A c.301+50C>A (n.301+50C>A) | gnomAD v4 |
2 | g.51026322A= | CA1249877771 | NRXN1 | c.772+1180T= (n.772+1180T=) c.329+1180T= n.66+1180T= c.871+49T= (n.871+49T=) c.297+1180T= c.301+49T= (n.301+49T=) | |
2 | g.51026322A>T | CA532659831 | NRXN1 | c.772+1180T>A (n.772+1180T>A) c.329+1180T>A n.66+1180T>A c.871+49T>A (n.871+49T>A) c.297+1180T>A c.301+49T>A (n.301+49T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026323C>T | CA2659012524 | NRXN1 | c.772+1179G>A (n.772+1179G>A) c.329+1179G>A n.66+1179G>A c.871+48G>A (n.871+48G>A) c.297+1179G>A c.301+48G>A (n.301+48G>A) | gnomAD v4 |
2 | g.51026324A>G | CA2659012525 | NRXN1 | c.772+1178T>C (n.772+1178T>C) c.329+1178T>C n.66+1178T>C c.871+47T>C (n.871+47T>C) c.297+1178T>C c.301+47T>C (n.301+47T>C) | gnomAD v4 |
2 | g.51026325T>C | CA769808400 | NRXN1 | c.772+1177A>G (n.772+1177A>G) c.329+1177A>G n.66+1177A>G c.871+46A>G (n.871+46A>G) c.297+1177A>G c.301+46A>G (n.301+46A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026325T= | CA1249877773 | NRXN1 | c.772+1177A= (n.772+1177A=) c.329+1177A= n.66+1177A= c.871+46A= (n.871+46A=) c.297+1177A= c.301+46A= (n.301+46A=) | |
2 | g.51026325_51026328delinsTCTC | CA1249877772 | NRXN1 | c.772+1174_772+1177delinsGAGA (n.772+1174_772+1177delinsGAGA) c.329+1174_329+1177delinsGAGA n.66+1174_66+1177delinsGAGA c.871+43_871+46delinsGAGA (n.871+43_871+46delinsGAGA) c.297+1174_297+1177delinsGAGA c.301+43_301+46delinsGAGA (n.301+43_301+46delinsGAGA) | |
2 | g.51026326C>A | CA2659012526 | NRXN1 | c.772+1176G>T (n.772+1176G>T) c.329+1176G>T n.66+1176G>T c.871+45G>T (n.871+45G>T) c.297+1176G>T c.301+45G>T (n.301+45G>T) | gnomAD v4 |
2 | g.51026326C= | CA1249877774 | NRXN1 | c.772+1176G= (n.772+1176G=) c.329+1176G= n.66+1176G= c.871+45G= (n.871+45G=) c.297+1176G= c.301+45G= (n.301+45G=) | |
2 | g.51026326C>G | CA532659834 | NRXN1 | c.772+1176G>C (n.772+1176G>C) c.329+1176G>C n.66+1176G>C c.871+45G>C (n.871+45G>C) c.297+1176G>C c.301+45G>C (n.301+45G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026326C>T | CA532659832 | NRXN1 | c.772+1176G>A (n.772+1176G>A) c.329+1176G>A n.66+1176G>A c.871+45G>A (n.871+45G>A) c.297+1176G>A c.301+45G>A (n.301+45G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026328_51026330del | CA769808406 | NRXN1 | c.772+1174_772+1176del (n.772+1174_772+1176del) c.329+1174_329+1176del n.66+1174_66+1176del c.871+43_871+45del (n.871+43_871+45del) c.297+1174_297+1176del c.301+43_301+45del (n.301+43_301+45del) | dbSNP gnomAD v4 |
2 | g.51026331A= | CA1249877775 | NRXN1 | c.772+1171T= (n.772+1171T=) c.329+1171T= n.66+1171T= c.871+40T= (n.871+40T=) c.297+1171T= c.301+40T= (n.301+40T=) | |
2 | g.51026331A>C | CA48054730 | NRXN1 | c.772+1171T>G (n.772+1171T>G) c.329+1171T>G n.66+1171T>G c.871+40T>G (n.871+40T>G) c.297+1171T>G c.301+40T>G (n.301+40T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026331A>T | CA2659012527 | NRXN1 | c.772+1171T>A (n.772+1171T>A) c.329+1171T>A n.66+1171T>A c.871+40T>A (n.871+40T>A) c.297+1171T>A c.301+40T>A (n.301+40T>A) | gnomAD v4 |
2 | g.51026333T>G | CA646652458 | NRXN1 | c.772+1169A>C (n.772+1169A>C) c.329+1169A>C n.66+1169A>C c.871+38A>C (n.871+38A>C) c.297+1169A>C c.301+38A>C (n.301+38A>C) | COSMIC COSMIC |
2 | g.51026334T>C | CA48054731 | NRXN1 | c.772+1168A>G (n.772+1168A>G) c.329+1168A>G n.66+1168A>G c.871+37A>G (n.871+37A>G) c.297+1168A>G c.301+37A>G (n.301+37A>G) | dbSNP gnomAD v4 |
2 | g.51026334T= | CA1249877776 | NRXN1 | c.772+1168A= (n.772+1168A=) c.329+1168A= n.66+1168A= c.871+37A= (n.871+37A=) c.297+1168A= c.301+37A= (n.301+37A=) | |
2 | g.51026335A= | CA1249877777 | NRXN1 | c.772+1167T= (n.772+1167T=) c.329+1167T= n.66+1167T= c.871+36T= (n.871+36T=) c.297+1167T= c.301+36T= (n.301+36T=) | |
2 | g.51026335A>G | CA1249877778 | NRXN1 | c.772+1167T>C (n.772+1167T>C) c.329+1167T>C n.66+1167T>C c.871+36T>C (n.871+36T>C) c.297+1167T>C c.301+36T>C (n.301+36T>C) | dbSNP |
2 | g.51026336G>A | CA2576965068 | NRXN1 | c.772+1166C>T (n.772+1166C>T) c.329+1166C>T n.66+1166C>T c.871+35C>T (n.871+35C>T) c.297+1166C>T c.301+35C>T (n.301+35C>T) | |
2 | g.51026336G>T | CA2659012528 | NRXN1 | c.772+1166C>A (n.772+1166C>A) c.329+1166C>A n.66+1166C>A c.871+35C>A (n.871+35C>A) c.297+1166C>A c.301+35C>A (n.301+35C>A) | gnomAD v4 |
2 | g.51026337C>A | CA532659836 | NRXN1 | c.772+1165G>T (n.772+1165G>T) c.329+1165G>T n.66+1165G>T c.871+34G>T (n.871+34G>T) c.297+1165G>T c.301+34G>T (n.301+34G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026337C= | CA1249877779 | NRXN1 | c.772+1165G= (n.772+1165G=) c.329+1165G= n.66+1165G= c.871+34G= (n.871+34G=) c.297+1165G= c.301+34G= (n.301+34G=) | |
2 | g.51026339A= | CA1249877780 | NRXN1 | c.772+1163T= (n.772+1163T=) c.329+1163T= n.66+1163T= c.871+32T= (n.871+32T=) c.297+1163T= c.301+32T= (n.301+32T=) | |
2 | g.51026339A>C | CA1655375 | NRXN1 | c.772+1163T>G (n.772+1163T>G) c.329+1163T>G n.66+1163T>G c.871+32T>G (n.871+32T>G) c.297+1163T>G c.301+32T>G (n.301+32T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026339A>T | CA2576965069 | NRXN1 | c.772+1163T>A (n.772+1163T>A) c.329+1163T>A n.66+1163T>A c.871+32T>A (n.871+32T>A) c.297+1163T>A c.301+32T>A (n.301+32T>A) | |
2 | g.51026340C= | CA1249877781 | NRXN1 | c.772+1162G= (n.772+1162G=) c.329+1162G= n.66+1162G= c.871+31G= (n.871+31G=) c.297+1162G= c.301+31G= (n.301+31G=) | |
2 | g.51026340C>G | CA769808422 | NRXN1 | c.772+1162G>C (n.772+1162G>C) c.329+1162G>C n.66+1162G>C c.871+31G>C (n.871+31G>C) c.297+1162G>C c.301+31G>C (n.301+31G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026340C>T | CA1030546822 | NRXN1 | c.772+1162G>A (n.772+1162G>A) c.329+1162G>A n.66+1162G>A c.871+31G>A (n.871+31G>A) c.297+1162G>A c.301+31G>A (n.301+31G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026340_51026347delinsCTGATTCG | CA1249877782 | NRXN1 | c.772+1155_772+1162delinsCGAATCAG (n.772+1155_772+1162delinsCGAATCAG) c.329+1155_329+1162delinsCGAATCAG n.66+1155_66+1162delinsCGAATCAG c.871+24_871+31delinsCGAATCAG (n.871+24_871+31delinsCGAATCAG) c.297+1155_297+1162delinsCGAATCAG c.301+24_301+31delinsCGAATCAG (n.301+24_301+31delinsCGAATCAG) | |
2 | g.51026341T>C | CA769808426 | NRXN1 | c.772+1161A>G (n.772+1161A>G) c.329+1161A>G n.66+1161A>G c.871+30A>G (n.871+30A>G) c.297+1161A>G c.301+30A>G (n.301+30A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026341T>G | CA1655376 | NRXN1 | c.772+1161A>C (n.772+1161A>C) c.329+1161A>C n.66+1161A>C c.871+30A>C (n.871+30A>C) c.297+1161A>C c.301+30A>C (n.301+30A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026341T= | CA1249877784 | NRXN1 | c.772+1161A= (n.772+1161A=) c.329+1161A= n.66+1161A= c.871+30A= (n.871+30A=) c.297+1161A= c.301+30A= (n.301+30A=) | |
2 | g.51026342_51026348del | CA1249877783 | NRXN1 | c.772+1155_772+1161del (n.772+1155_772+1161del) c.329+1155_329+1161del n.66+1155_66+1161del c.871+24_871+30del (n.871+24_871+30del) c.297+1155_297+1161del c.301+24_301+30del (n.301+24_301+30del) | dbSNP |
2 | g.51026342G>A | CA2699320270 | NRXN1 | c.772+1160C>T (n.772+1160C>T) c.329+1160C>T n.66+1160C>T c.871+29C>T (n.871+29C>T) c.297+1160C>T c.301+29C>T (n.301+29C>T) | dbSNP |
2 | g.51026342G>T | CA2659012529 | NRXN1 | c.772+1160C>A (n.772+1160C>A) c.329+1160C>A n.66+1160C>A c.871+29C>A (n.871+29C>A) c.297+1160C>A c.301+29C>A (n.301+29C>A) | gnomAD v4 |
2 | g.51026343A= | CA1249877785 | NRXN1 | c.772+1159T= (n.772+1159T=) c.329+1159T= n.66+1159T= c.871+28T= (n.871+28T=) c.297+1159T= c.301+28T= (n.301+28T=) | |
2 | g.51026343A>G | CA2659012530 | NRXN1 | c.772+1159T>C (n.772+1159T>C) c.329+1159T>C n.66+1159T>C c.871+28T>C (n.871+28T>C) c.297+1159T>C c.301+28T>C (n.301+28T>C) | gnomAD v4 |
2 | g.51026344T>C | CA2659012531 | NRXN1 | c.772+1158A>G (n.772+1158A>G) c.329+1158A>G n.66+1158A>G c.871+27A>G (n.871+27A>G) c.297+1158A>G c.301+27A>G (n.301+27A>G) | gnomAD v4 |
2 | g.51026345dup | CA1655377 | NRXN1 | c.772+1158dup (n.772+1158dup) c.329+1158dup n.66+1158dup c.871+27dup (n.871+27dup) c.297+1158dup c.301+27dup (n.301+27dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.51026346C>A | CA532659839 | NRXN1 | c.772+1156G>T (n.772+1156G>T) c.329+1156G>T n.66+1156G>T c.871+25G>T (n.871+25G>T) c.297+1156G>T c.301+25G>T (n.301+25G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026346C= | CA1249877786 | NRXN1 | c.772+1156G= (n.772+1156G=) c.329+1156G= n.66+1156G= c.871+25G= (n.871+25G=) c.297+1156G= c.301+25G= (n.301+25G=) | |
2 | g.51026346C>G | CA1249877787 | NRXN1 | c.772+1156G>C (n.772+1156G>C) c.329+1156G>C n.66+1156G>C c.871+25G>C (n.871+25G>C) c.297+1156G>C c.301+25G>C (n.301+25G>C) | dbSNP gnomAD v4 |
2 | g.51026346C>T | CA1655378 | NRXN1 | c.772+1156G>A (n.772+1156G>A) c.329+1156G>A n.66+1156G>A c.871+25G>A (n.871+25G>A) c.297+1156G>A c.301+25G>A (n.301+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.51026347G>A | CA1655379 | NRXN1 | c.772+1155C>T (n.772+1155C>T) c.329+1155C>T n.66+1155C>T c.871+24C>T (n.871+24C>T) c.297+1155C>T c.301+24C>T (n.301+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026347G>C | CA532659840 | NRXN1 | c.772+1155C>G (n.772+1155C>G) c.329+1155C>G n.66+1155C>G c.871+24C>G (n.871+24C>G) c.297+1155C>G c.301+24C>G (n.301+24C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026347G= | CA1249877788 | NRXN1 | c.772+1155C= (n.772+1155C=) c.329+1155C= n.66+1155C= c.871+24C= (n.871+24C=) c.297+1155C= c.301+24C= (n.301+24C=) | |
2 | g.51026347G>T | CA1249877789 | NRXN1 | c.772+1155C>A (n.772+1155C>A) c.329+1155C>A n.66+1155C>A c.871+24C>A (n.871+24C>A) c.297+1155C>A c.301+24C>A (n.301+24C>A) | dbSNP gnomAD v4 |
2 | g.51026348T>A | CA1249877791 | NRXN1 | c.772+1154A>T (n.772+1154A>T) c.329+1154A>T n.66+1154A>T c.871+23A>T (n.871+23A>T) c.297+1154A>T c.301+23A>T (n.301+23A>T) | dbSNP gnomAD v4 |
2 | g.51026348T>C | CA2513386937 | NRXN1 | c.772+1154A>G (n.772+1154A>G) c.329+1154A>G n.66+1154A>G c.871+23A>G (n.871+23A>G) c.297+1154A>G c.301+23A>G (n.301+23A>G) | gnomAD v4 |
2 | g.51026348T= | CA1249877790 | NRXN1 | c.772+1154A= (n.772+1154A=) c.329+1154A= n.66+1154A= c.871+23A= (n.871+23A=) c.297+1154A= c.301+23A= (n.301+23A=) | |
2 | g.51026349C>A | CA2659012532 | NRXN1 | c.772+1153G>T (n.772+1153G>T) c.329+1153G>T n.66+1153G>T c.871+22G>T (n.871+22G>T) c.297+1153G>T c.301+22G>T (n.301+22G>T) | gnomAD v4 |
2 | g.51026349C>G | CA2659012533 | NRXN1 | c.772+1153G>C (n.772+1153G>C) c.329+1153G>C n.66+1153G>C c.871+22G>C (n.871+22G>C) c.297+1153G>C c.301+22G>C (n.301+22G>C) | gnomAD v4 |
2 | g.51026350T>C | CA48054732 | NRXN1 | c.772+1152A>G (n.772+1152A>G) c.329+1152A>G n.66+1152A>G c.871+21A>G (n.871+21A>G) c.297+1152A>G c.301+21A>G (n.301+21A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026350T= | CA1249877792 | NRXN1 | c.772+1152A= (n.772+1152A=) c.329+1152A= n.66+1152A= c.871+21A= (n.871+21A=) c.297+1152A= c.301+21A= (n.301+21A=) | |
2 | g.51026354del | CA2576965070 | NRXN1 | c.772+1152del (n.772+1152del) c.329+1152del n.66+1152del c.871+21del (n.871+21del) c.297+1152del c.301+21del (n.301+21del) | gnomAD v4 |
2 | g.51026352T>A | CA532659841 | NRXN1 | c.772+1150A>T (n.772+1150A>T) c.329+1150A>T n.66+1150A>T c.871+19A>T (n.871+19A>T) c.297+1150A>T c.301+19A>T (n.301+19A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026352T= | CA1249877793 | NRXN1 | c.772+1150A= (n.772+1150A=) c.329+1150A= n.66+1150A= c.871+19A= (n.871+19A=) c.297+1150A= c.301+19A= (n.301+19A=) | |
2 | g.51026353T>C | CA2659012534 | NRXN1 | c.772+1149A>G (n.772+1149A>G) c.329+1149A>G n.66+1149A>G c.871+18A>G (n.871+18A>G) c.297+1149A>G c.301+18A>G (n.301+18A>G) | gnomAD v4 |
2 | g.51026353_51026354insGCTTTGACCCATAAGCTA | CA2659012535 | NRXN1 | c.772+1148_772+1149insTAGCTTATGGGTCAAAGC (n.772+1148_772+1149insTAGCTTATGGGTCAAAGC) c.329+1148_329+1149insTAGCTTATGGGTCAAAGC n.66+1148_66+1149insTAGCTTATGGGTCAAAGC c.871+17_871+18insTAGCTTATGGGTCAAAGC (n.871+17_871+18insTAGCTTATGGGTCAAAGC) c.297+1148_297+1149insTAGCTTATGGGTCAAAGC c.301+17_301+18insTAGCTTATGGGTCAAAGC (n.301+17_301+18insTAGCTTATGGGTCAAAGC) | gnomAD v4 |
2 | g.51026354T>C | CA2659012536 | NRXN1 | c.772+1148A>G (n.772+1148A>G) c.329+1148A>G n.66+1148A>G c.871+17A>G (n.871+17A>G) c.297+1148A>G c.301+17A>G (n.301+17A>G) | gnomAD v4 |
2 | g.51026355C>A | CA2659012537 | NRXN1 | c.772+1147G>T (n.772+1147G>T) c.329+1147G>T n.66+1147G>T c.871+16G>T (n.871+16G>T) c.297+1147G>T c.301+16G>T (n.301+16G>T) | gnomAD v4 |
2 | g.51026355C= | CA1249877794 | NRXN1 | c.772+1147G= (n.772+1147G=) c.329+1147G= n.66+1147G= c.871+16G= (n.871+16G=) c.297+1147G= c.301+16G= (n.301+16G=) | |
2 | g.51026355C>T | CA1655380 | NRXN1 | c.772+1147G>A (n.772+1147G>A) c.329+1147G>A n.66+1147G>A c.871+16G>A (n.871+16G>A) c.297+1147G>A c.301+16G>A (n.301+16G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.51026355_51026356insTACTTTAA | CA2659012538 | NRXN1 | c.772+1146_772+1147insTTAAAGTA (n.772+1146_772+1147insTTAAAGTA) c.329+1146_329+1147insTTAAAGTA n.66+1146_66+1147insTTAAAGTA c.871+15_871+16insTTAAAGTA (n.871+15_871+16insTTAAAGTA) c.297+1146_297+1147insTTAAAGTA c.301+15_301+16insTTAAAGTA (n.301+15_301+16insTTAAAGTA) | gnomAD v4 |
2 | g.51026356A= | CA1249877795 | NRXN1 | c.772+1146T= (n.772+1146T=) c.329+1146T= n.66+1146T= c.871+15T= (n.871+15T=) c.297+1146T= c.301+15T= (n.301+15T=) | |
2 | g.51026356A>G | CA532659842 | NRXN1 | c.772+1146T>C (n.772+1146T>C) c.329+1146T>C n.66+1146T>C c.871+15T>C (n.871+15T>C) c.297+1146T>C c.301+15T>C (n.301+15T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026357C>A | CA2659012539 | NRXN1 | c.772+1145G>T (n.772+1145G>T) c.329+1145G>T n.66+1145G>T c.871+14G>T (n.871+14G>T) c.297+1145G>T c.301+14G>T (n.301+14G>T) | gnomAD v4 |
2 | g.51026357C>T | CA2659012540 | NRXN1 | c.772+1145G>A (n.772+1145G>A) c.329+1145G>A n.66+1145G>A c.871+14G>A (n.871+14G>A) c.297+1145G>A c.301+14G>A (n.301+14G>A) | gnomAD v4 |
2 | g.51026358A= | CA1249877796 | NRXN1 | c.772+1144T= (n.772+1144T=) c.329+1144T= n.66+1144T= c.871+13T= (n.871+13T=) c.297+1144T= c.301+13T= (n.301+13T=) | |
2 | g.51026358A>G | CA532659843 | NRXN1 | c.772+1144T>C (n.772+1144T>C) c.329+1144T>C n.66+1144T>C c.871+13T>C (n.871+13T>C) c.297+1144T>C c.301+13T>C (n.301+13T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026359C>A | CA2659012541 | NRXN1 | c.772+1143G>T (n.772+1143G>T) c.329+1143G>T n.66+1143G>T c.871+12G>T (n.871+12G>T) c.297+1143G>T c.301+12G>T (n.301+12G>T) | gnomAD v4 |
2 | g.51026359C= | CA1249877797 | NRXN1 | c.772+1143G= (n.772+1143G=) c.329+1143G= n.66+1143G= c.871+12G= (n.871+12G=) c.297+1143G= c.301+12G= (n.301+12G=) | |
2 | g.51026359C>G | CA2659012542 | NRXN1 | c.772+1143G>C (n.772+1143G>C) c.329+1143G>C n.66+1143G>C c.871+12G>C (n.871+12G>C) c.297+1143G>C c.301+12G>C (n.301+12G>C) | ClinVar gnomAD v4 |
2 | g.51026359C>T | CA2580067248 | NRXN1 | c.772+1143G>A (n.772+1143G>A) c.329+1143G>A n.66+1143G>A c.871+12G>A (n.871+12G>A) c.297+1143G>A c.301+12G>A (n.301+12G>A) | ClinVar |
2 | g.51026360del | CA2659012543 | NRXN1 | c.772+1143del (n.772+1143del) c.329+1143del n.66+1143del c.871+12del (n.871+12del) c.297+1143del c.301+12del (n.301+12del) | gnomAD v4 |
2 | g.51026359_51026360insAACT | CA1030546830 | NRXN1 | c.772+1142_772+1143insAGTT (n.772+1142_772+1143insAGTT) c.329+1142_329+1143insAGTT n.66+1142_66+1143insAGTT c.871+11_871+12insAGTT (n.871+11_871+12insAGTT) c.297+1142_297+1143insAGTT c.301+11_301+12insAGTT (n.301+11_301+12insAGTT) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026360C>A | CA2659012544 | NRXN1 | c.772+1142G>T (n.772+1142G>T) c.329+1142G>T n.66+1142G>T c.871+11G>T (n.871+11G>T) c.297+1142G>T c.301+11G>T (n.301+11G>T) | gnomAD v4 |
2 | g.51026368_51026371del | CA2576965071 | NRXN1 | c.772+1139_772+1142del (n.772+1139_772+1142del) c.329+1139_329+1142del n.66+1139_66+1142del c.871+8_871+11del c.297+1139_297+1142del c.301+8_301+11del | ClinVar gnomAD v4 |
2 | g.51026361A= | CA1249877798 | NRXN1 | c.772+1141T= (n.772+1141T=) c.329+1141T= n.66+1141T= c.871+10T= (n.871+10T=) c.297+1141T= c.301+10T= (n.301+10T=) | |
2 | g.51026361A>G | CA532659844 | NRXN1 | c.772+1141T>C (n.772+1141T>C) c.329+1141T>C n.66+1141T>C c.871+10T>C (n.871+10T>C) c.297+1141T>C c.301+10T>C (n.301+10T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026362C>A | CA2581770731 | NRXN1 | c.772+1140G>T (n.772+1140G>T) c.329+1140G>T n.66+1140G>T c.871+9G>T (n.871+9G>T) c.297+1140G>T c.301+9G>T (n.301+9G>T) | gnomAD v4 |
2 | g.51026362C= | CA1249877799 | NRXN1 | c.772+1140G= (n.772+1140G=) c.329+1140G= n.66+1140G= c.871+9G= (n.871+9G=) c.297+1140G= c.301+9G= (n.301+9G=) | |
2 | g.51026362C>G | CA426106399 | NRXN1 | c.772+1140G>C (n.772+1140G>C) c.329+1140G>C n.66+1140G>C c.871+9G>C (n.871+9G>C) c.297+1140G>C c.301+9G>C (n.301+9G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.51026362C>T | CA288976 | NRXN1 | c.772+1140G>A (n.772+1140G>A) c.329+1140G>A n.66+1140G>A c.871+9G>A (n.871+9G>A) c.297+1140G>A c.301+9G>A (n.301+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026363T>C | CA532659845 | NRXN1 | c.772+1139A>G (n.772+1139A>G) c.329+1139A>G n.66+1139A>G c.871+8A>G (n.871+8A>G) c.297+1139A>G c.301+8A>G (n.301+8A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026363T= | CA1249877800 | NRXN1 | c.772+1139A= (n.772+1139A=) c.329+1139A= n.66+1139A= c.871+8A= (n.871+8A=) c.297+1139A= c.301+8A= (n.301+8A=) | |
2 | g.51026364C>A | CA2659012545 | NRXN1 | c.772+1138G>T (n.772+1138G>T) c.329+1138G>T n.66+1138G>T c.871+7G>T (n.871+7G>T) c.297+1138G>T c.301+7G>T (n.301+7G>T) | gnomAD v4 |
2 | g.51026364C>G | CA2659012546 | NRXN1 | c.772+1138G>C (n.772+1138G>C) c.329+1138G>C n.66+1138G>C c.871+7G>C (n.871+7G>C) c.297+1138G>C c.301+7G>C (n.301+7G>C) | gnomAD v4 |
2 | g.51026364C>T | CA2659012547 | NRXN1 | c.772+1138G>A (n.772+1138G>A) c.329+1138G>A n.66+1138G>A c.871+7G>A (n.871+7G>A) c.297+1138G>A c.301+7G>A (n.301+7G>A) | gnomAD v4 |
2 | g.51026365A>T | CA2659012548 | NRXN1 | c.772+1137T>A (n.772+1137T>A) c.329+1137T>A n.66+1137T>A c.871+6T>A (n.871+6T>A) c.297+1137T>A c.301+6T>A (n.301+6T>A) | gnomAD v4 |
2 | g.51026367T>C | CA2659012549 | NRXN1 | c.772+1135A>G (n.772+1135A>G) c.329+1135A>G n.66+1135A>G c.871+4A>G (n.871+4A>G) c.297+1135A>G c.301+4A>G (n.301+4A>G) | gnomAD v4 |
2 | g.51026368C= | CA1249877801 | NRXN1 | c.772+1134G= (n.772+1134G=) c.329+1134G= n.66+1134G= c.871+3G= (n.871+3G=) c.297+1134G= c.301+3G= (n.301+3G=) | |
2 | g.51026368C>T | CA1030546844 | NRXN1 | c.772+1134G>A (n.772+1134G>A) c.329+1134G>A n.66+1134G>A c.871+3G>A (n.871+3G>A) c.297+1134G>A c.301+3G>A (n.301+3G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026368dup | CA2659012550 | NRXN1 | c.772+1134dup (n.772+1134dup) c.329+1134dup n.66+1134dup c.871+3dup (n.871+3dup) c.297+1134dup c.301+3dup (n.301+3dup) | gnomAD v4 |
2 | g.51026369A= | CA1249877802 | NRXN1 | c.772+1133T= (n.772+1133T=) c.329+1133T= n.66+1133T= c.871+2T= (n.871+2T=) c.297+1133T= c.301+2T= (n.301+2T=) | |
2 | g.51026369A>C | CA346822970 | NRXN1 | c.772+1133T>G (n.772+1133T>G) c.329+1133T>G n.66+1133T>G c.871+2T>G (n.871+2T>G) c.297+1133T>G c.301+2T>G (n.301+2T>G) | |
2 | g.51026369A>G | CA346822972 | NRXN1 | c.772+1133T>C (n.772+1133T>C) c.329+1133T>C n.66+1133T>C c.871+2T>C (n.871+2T>C) c.297+1133T>C c.301+2T>C (n.301+2T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026369A>T | CA346822974 | NRXN1 | c.772+1133T>A (n.772+1133T>A) c.329+1133T>A n.66+1133T>A c.871+2T>A (n.871+2T>A) c.297+1133T>A c.301+2T>A (n.301+2T>A) | |
2 | g.51026369_51026372del | CA2659012552 | NRXN1 | c.772+1130_772+1133del (n.772+1130_772+1133del) c.329+1130_329+1133del n.66+1130_66+1133del c.870_871+2del c.297+1130_297+1133del c.300_301+2del | gnomAD v4 |
2 | g.51026369_51026372dup | CA2659012551 | NRXN1 | c.772+1130_772+1133dup (n.772+1130_772+1133dup) c.329+1130_329+1133dup n.66+1130_66+1133dup c.870_871+2dup c.297+1130_297+1133dup c.300_301+2dup | gnomAD v4 |
2 | g.51026370C>A | CA346822976 | NRXN1 | c.772+1132G>T (n.772+1132G>T) c.329+1132G>T n.66+1132G>T c.871+1G>T (n.871+1G>T) c.297+1132G>T c.301+1G>T (n.301+1G>T) | |
2 | g.51026370C>G | CA346822978 | NRXN1 | c.772+1132G>C (n.772+1132G>C) c.329+1132G>C n.66+1132G>C c.871+1G>C (n.871+1G>C) c.297+1132G>C c.301+1G>C (n.301+1G>C) | |
2 | g.51026370C>T | CA346822977 | NRXN1 | c.772+1132G>A (n.772+1132G>A) c.329+1132G>A n.66+1132G>A c.871+1G>A (n.871+1G>A) c.297+1132G>A c.301+1G>A (n.301+1G>A) | |
2 | g.51026372_51026375del | CA2573134992 | NRXN1 | c.772+1129_772+1132del (n.772+1129_772+1132del) c.329+1129_329+1132del n.66+1129_66+1132del c.869_871+1del c.297+1129_297+1132del c.299_301+1del | ClinVar dbSNP |
2 | g.51026371T>A | CA346822980 | NRXN1 | c.772+1131A>T (n.772+1131A>T) c.329+1131A>T n.66+1131A>T c.871A>T (p.Lys291Ter) c.297+1131A>T c.301A>T (p.Lys101Ter) | |
2 | g.51026371T>C | CA346822982 | NRXN1 | c.772+1131A>G (n.772+1131A>G) c.329+1131A>G n.66+1131A>G c.871A>G (p.Lys291Glu) c.297+1131A>G c.301A>G (p.Lys101Glu) | gnomAD v4 |
2 | g.51026371T>G | CA346822987 | NRXN1 | c.772+1131A>C (n.772+1131A>C) c.329+1131A>C n.66+1131A>C c.871A>C (p.Lys291Gln) c.297+1131A>C c.301A>C (p.Lys101Gln) | |
2 | g.51026373del | CA2586969335 | NRXN1 | c.772+1131del (n.772+1131del) c.329+1131del n.66+1131del c.871del (p.Asp292ThrfsTer10) c.297+1131del c.301del (p.Asp102ThrfsTer10) | |
2 | g.51026372T>A | CA346822988 | NRXN1 | c.772+1130A>T (n.772+1130A>T) c.329+1130A>T n.66+1130A>T c.870A>T (p.Glu290Asp) c.297+1130A>T c.300A>T (p.Glu100Asp) | |
2 | g.51026372T>C | CA426106400 | NRXN1 | c.772+1130A>G (n.772+1130A>G) c.329+1130A>G n.66+1130A>G c.870A>G (p.Glu290=) c.297+1130A>G c.300A>G (p.Glu100=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026372T>G | CA346822990 | NRXN1 | c.772+1130A>C (n.772+1130A>C) c.329+1130A>C n.66+1130A>C c.870A>C (p.Glu290Asp) c.297+1130A>C c.300A>C (p.Glu100Asp) | |
2 | g.51026372T= | CA1249877803 | NRXN1 | c.772+1130A= (n.772+1130A=) c.329+1130A= n.66+1130A= c.870A= (p.Glu290=) c.297+1130A= c.300A= (p.Glu100=) | |
2 | g.51026372_51026374delinsTTC | CA1249877804 | NRXN1 | c.772+1128_772+1130delinsGAA (n.772+1128_772+1130delinsGAA) c.329+1128_329+1130delinsGAA n.66+1128_66+1130delinsGAA c.868_870delinsGAA (p.Glu290=) c.297+1128_297+1130delinsGAA c.298_300delinsGAA (p.Glu100=) | |
2 | g.51026373T>A | CA346822992 | NRXN1 | c.772+1129A>T (n.772+1129A>T) c.329+1129A>T n.66+1129A>T c.869A>T (p.Glu290Val) c.297+1129A>T c.299A>T (p.Glu100Val) | |
2 | g.51026373T>C | CA346822994 | NRXN1 | c.772+1129A>G (n.772+1129A>G) c.329+1129A>G n.66+1129A>G c.869A>G (p.Glu290Gly) c.297+1129A>G c.299A>G (p.Glu100Gly) | gnomAD v4 |
2 | g.51026373T>G | CA346822995 | NRXN1 | c.772+1129A>C (n.772+1129A>C) c.329+1129A>C n.66+1129A>C c.869A>C (p.Glu290Ala) c.297+1129A>C c.299A>C (p.Glu100Ala) | |
2 | g.51026374_51026375del | CA532659846 | NRXN1 | c.772+1128_772+1129del (n.772+1128_772+1129del) c.329+1128_329+1129del n.66+1128_66+1129del c.868_869del (p.Glu290LysfsTer18) c.297+1128_297+1129del c.298_299del (p.Glu100LysfsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026374C>A | CA346822998 | NRXN1 | c.772+1128G>T (n.772+1128G>T) c.329+1128G>T n.66+1128G>T c.868G>T (p.Glu290Ter) c.297+1128G>T c.298G>T (p.Glu100Ter) | gnomAD v4 |
2 | g.51026374C= | CA1249877805 | NRXN1 | c.772+1128G= (n.772+1128G=) c.329+1128G= n.66+1128G= c.868G= (p.Glu290=) c.297+1128G= c.298G= (p.Glu100=) | |
2 | g.51026374C>G | CA346823001 | NRXN1 | c.772+1128G>C (n.772+1128G>C) c.329+1128G>C n.66+1128G>C c.868G>C (p.Glu290Gln) c.297+1128G>C c.298G>C (p.Glu100Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026374C>T | CA346823002 | NRXN1 | c.772+1128G>A (n.772+1128G>A) c.329+1128G>A n.66+1128G>A c.868G>A (p.Glu290Lys) c.297+1128G>A c.298G>A (p.Glu100Lys) | |
2 | g.51026375T>A | CA426106401 | NRXN1 | c.772+1127A>T (n.772+1127A>T) c.329+1127A>T n.66+1127A>T c.867A>T (p.Thr289=) c.297+1127A>T c.297A>T (p.Thr99=) | |
2 | g.51026375T>C | CA426106402 | NRXN1 | c.772+1127A>G (n.772+1127A>G) c.329+1127A>G n.66+1127A>G c.867A>G (p.Thr289=) c.297+1127A>G c.297A>G (p.Thr99=) | ClinVar dbSNP |
2 | g.51026375T>G | CA426106403 | NRXN1 | c.772+1127A>C (n.772+1127A>C) c.329+1127A>C n.66+1127A>C c.867A>C (p.Thr289=) c.297+1127A>C c.297A>C (p.Thr99=) | |
2 | g.51026375T= | CA1249877806 | NRXN1 | c.772+1127A= (n.772+1127A=) c.329+1127A= n.66+1127A= c.867A= (p.Thr289=) c.297+1127A= c.297A= (p.Thr99=) | |
2 | g.51026376G>A | CA346823004 | NRXN1 | c.772+1126C>T (n.772+1126C>T) c.329+1126C>T n.66+1126C>T c.866C>T (p.Thr289Ile) c.297+1126C>T c.296C>T (p.Thr99Ile) | |
2 | g.51026376G>C | CA346823007 | NRXN1 | c.772+1126C>G (n.772+1126C>G) c.329+1126C>G n.66+1126C>G c.866C>G (p.Thr289Arg) c.297+1126C>G c.296C>G (p.Thr99Arg) | |
2 | g.51026376G>T | CA346823006 | NRXN1 | c.772+1126C>A (n.772+1126C>A) c.329+1126C>A n.66+1126C>A c.866C>A (p.Thr289Lys) c.297+1126C>A c.296C>A (p.Thr99Lys) | gnomAD v4 |
2 | g.51026377T>A | CA346823009 | NRXN1 | c.772+1125A>T (n.772+1125A>T) c.329+1125A>T n.66+1125A>T c.865A>T (p.Thr289Ser) c.297+1125A>T c.295A>T (p.Thr99Ser) | |
2 | g.51026377T>C | CA346823010 | NRXN1 | c.772+1125A>G (n.772+1125A>G) c.329+1125A>G n.66+1125A>G c.865A>G (p.Thr289Ala) c.297+1125A>G c.295A>G (p.Thr99Ala) | |
2 | g.51026377T>G | CA346823012 | NRXN1 | c.772+1125A>C (n.772+1125A>C) c.329+1125A>C n.66+1125A>C c.865A>C (p.Thr289Pro) c.297+1125A>C c.295A>C (p.Thr99Pro) | |
2 | g.51026378del | CA2659012553 | NRXN1 | c.772+1125del (n.772+1125del) c.329+1125del n.66+1125del c.865del (p.Thr289GlnfsTer13) c.297+1125del c.295del (p.Thr99GlnfsTer13) | gnomAD v4 |
2 | g.51026378T>A | CA426106404 | NRXN1 | c.772+1124A>T (n.772+1124A>T) c.329+1124A>T n.66+1124A>T c.864A>T (p.Leu288=) c.297+1124A>T c.294A>T (p.Leu98=) | |
2 | g.51026378T>C | CA426106405 | NRXN1 | c.772+1124A>G (n.772+1124A>G) c.329+1124A>G n.66+1124A>G c.864A>G (p.Leu288=) c.297+1124A>G c.294A>G (p.Leu98=) | gnomAD v4 |
2 | g.51026378T>G | CA426106406 | NRXN1 | c.772+1124A>C (n.772+1124A>C) c.329+1124A>C n.66+1124A>C c.864A>C (p.Leu288=) c.297+1124A>C c.294A>C (p.Leu98=) | |
2 | g.51026379A>C | CA346823014 | NRXN1 | c.772+1123T>G (n.772+1123T>G) c.329+1123T>G n.66+1123T>G c.863T>G (p.Leu288Arg) c.297+1123T>G c.293T>G (p.Leu98Arg) | |
2 | g.51026379A>G | CA346823015 | NRXN1 | c.772+1123T>C (n.772+1123T>C) c.329+1123T>C n.66+1123T>C c.863T>C (p.Leu288Pro) c.297+1123T>C c.293T>C (p.Leu98Pro) | gnomAD v4 |
2 | g.51026379A>T | CA346823017 | NRXN1 | c.772+1123T>A (n.772+1123T>A) c.329+1123T>A n.66+1123T>A c.863T>A (p.Leu288Gln) c.297+1123T>A c.293T>A (p.Leu98Gln) | gnomAD v4 |
2 | g.51026380G>A | CA426106407 | NRXN1 | c.772+1122C>T (n.772+1122C>T) c.329+1122C>T n.66+1122C>T c.862C>T (p.Leu288=) c.297+1122C>T c.292C>T (p.Leu98=) | |
2 | g.51026380G>C | CA346823018 | NRXN1 | c.772+1122C>G (n.772+1122C>G) c.329+1122C>G n.66+1122C>G c.862C>G (p.Leu288Val) c.297+1122C>G c.292C>G (p.Leu98Val) | gnomAD v4 |
2 | g.51026380G>T | CA346823020 | NRXN1 | c.772+1122C>A (n.772+1122C>A) c.329+1122C>A n.66+1122C>A c.862C>A (p.Leu288Ile) c.297+1122C>A c.292C>A (p.Leu98Ile) | |
2 | g.51026381A>C | CA426106408 | NRXN1 | c.772+1121T>G (n.772+1121T>G) c.329+1121T>G n.66+1121T>G c.861T>G (p.Pro287=) c.297+1121T>G c.291T>G (p.Pro97=) | |
2 | g.51026381A>G | CA426106409 | NRXN1 | c.772+1121T>C (n.772+1121T>C) c.329+1121T>C n.66+1121T>C c.861T>C (p.Pro287=) c.297+1121T>C c.291T>C (p.Pro97=) | |
2 | g.51026381A>T | CA426106410 | NRXN1 | c.772+1121T>A (n.772+1121T>A) c.329+1121T>A n.66+1121T>A c.861T>A (p.Pro287=) c.297+1121T>A c.291T>A (p.Pro97=) | |
2 | g.51026382G>A | CA346823021 | NRXN1 | c.772+1120C>T (n.772+1120C>T) c.329+1120C>T n.66+1120C>T c.860C>T (p.Pro287Leu) c.297+1120C>T c.290C>T (p.Pro97Leu) | ClinVar |
2 | g.51026382G>C | CA346823022 | NRXN1 | c.772+1120C>G (n.772+1120C>G) c.329+1120C>G n.66+1120C>G c.860C>G (p.Pro287Arg) c.297+1120C>G c.290C>G (p.Pro97Arg) | |
2 | g.51026382G>T | CA346823023 | NRXN1 | c.772+1120C>A (n.772+1120C>A) c.329+1120C>A n.66+1120C>A c.860C>A (p.Pro287His) c.297+1120C>A c.290C>A (p.Pro97His) | |
2 | g.51026383G>A | CA1655381 | NRXN1 | c.772+1119C>T (n.772+1119C>T) c.329+1119C>T n.66+1119C>T c.859C>T (p.Pro287Ser) c.297+1119C>T c.289C>T (p.Pro97Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026383G>C | CA346823027 | NRXN1 | c.772+1119C>G (n.772+1119C>G) c.329+1119C>G n.66+1119C>G c.859C>G (p.Pro287Ala) c.297+1119C>G c.289C>G (p.Pro97Ala) | |
2 | g.51026383G= | CA1249877807 | NRXN1 | c.772+1119C= (n.772+1119C=) c.329+1119C= n.66+1119C= c.859C= (p.Pro287=) c.297+1119C= c.289C= (p.Pro97=) | |
2 | g.51026383G>T | CA346823025 | NRXN1 | c.772+1119C>A (n.772+1119C>A) c.329+1119C>A n.66+1119C>A c.859C>A (p.Pro287Thr) c.297+1119C>A c.289C>A (p.Pro97Thr) | gnomAD v4 |
2 | g.51026384C>A | CA346823029 | NRXN1 | c.772+1118G>T (n.772+1118G>T) c.329+1118G>T n.66+1118G>T c.858G>T (p.Lys286Asn) c.297+1118G>T c.288G>T (p.Lys96Asn) | |
2 | g.51026384C= | CA1249877808 | NRXN1 | c.772+1118G= (n.772+1118G=) c.329+1118G= n.66+1118G= c.858G= (p.Lys286=) c.297+1118G= c.288G= (p.Lys96=) | |
2 | g.51026384C>G | CA346823031 | NRXN1 | c.772+1118G>C (n.772+1118G>C) c.329+1118G>C n.66+1118G>C c.858G>C (p.Lys286Asn) c.297+1118G>C c.288G>C (p.Lys96Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026384C>T | CA1655382 | NRXN1 | c.772+1118G>A (n.772+1118G>A) c.329+1118G>A n.66+1118G>A c.858G>A (p.Lys286=) c.297+1118G>A c.288G>A (p.Lys96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026385T>A | CA346823034 | NRXN1 | c.772+1117A>T (n.772+1117A>T) c.329+1117A>T n.66+1117A>T c.857A>T (p.Lys286Met) c.297+1117A>T c.287A>T (p.Lys96Met) | |
2 | g.51026385T>C | CA346823035 | NRXN1 | c.772+1117A>G (n.772+1117A>G) c.329+1117A>G n.66+1117A>G c.857A>G (p.Lys286Arg) c.297+1117A>G c.287A>G (p.Lys96Arg) | |
2 | g.51026385T>G | CA346823037 | NRXN1 | c.772+1117A>C (n.772+1117A>C) c.329+1117A>C n.66+1117A>C c.857A>C (p.Lys286Thr) c.297+1117A>C c.287A>C (p.Lys96Thr) | |
2 | g.51026386T>A | CA346823039 | NRXN1 | c.772+1116A>T (n.772+1116A>T) c.329+1116A>T n.66+1116A>T c.856A>T (p.Lys286Ter) c.297+1116A>T c.286A>T (p.Lys96Ter) | |
2 | g.51026386T>C | CA346823040 | NRXN1 | c.772+1116A>G (n.772+1116A>G) c.329+1116A>G n.66+1116A>G c.856A>G (p.Lys286Glu) c.297+1116A>G c.286A>G (p.Lys96Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.51026386T>G | CA346823042 | NRXN1 | c.772+1116A>C (n.772+1116A>C) c.329+1116A>C n.66+1116A>C c.856A>C (p.Lys286Gln) c.297+1116A>C c.286A>C (p.Lys96Gln) | |
2 | g.51026386T= | CA1249877809 | NRXN1 | c.772+1116A= (n.772+1116A=) c.329+1116A= n.66+1116A= c.856A= (p.Lys286=) c.297+1116A= c.286A= (p.Lys96=) | |
2 | g.51026386_51026387insA | CA2659012554 | NRXN1 | c.772+1115_772+1116insT (n.772+1115_772+1116insT) c.329+1115_329+1116insT n.66+1115_66+1116insT c.855_856insT (p.Lys286Ter) c.297+1115_297+1116insT c.285_286insT (p.Lys96Ter) | gnomAD v4 |
2 | g.51026387T>A | CA426106411 | NRXN1 | c.772+1115A>T (n.772+1115A>T) c.329+1115A>T n.66+1115A>T c.855A>T (p.Ala285=) c.297+1115A>T c.285A>T (p.Ala95=) | |
2 | g.51026387T>C | CA426106412 | NRXN1 | c.772+1115A>G (n.772+1115A>G) c.329+1115A>G n.66+1115A>G c.855A>G (p.Ala285=) c.297+1115A>G c.285A>G (p.Ala95=) | |
2 | g.51026387T>G | CA426106413 | NRXN1 | c.772+1115A>C (n.772+1115A>C) c.329+1115A>C n.66+1115A>C c.855A>C (p.Ala285=) c.297+1115A>C c.285A>C (p.Ala95=) | |
2 | g.51026388G>A | CA346823044 | NRXN1 | c.772+1114C>T (n.772+1114C>T) c.329+1114C>T n.66+1114C>T c.854C>T (p.Ala285Val) c.297+1114C>T c.284C>T (p.Ala95Val) | |
2 | g.51026388G>C | CA346823045 | NRXN1 | c.772+1114C>G (n.772+1114C>G) c.329+1114C>G n.66+1114C>G c.854C>G (p.Ala285Gly) c.297+1114C>G c.284C>G (p.Ala95Gly) | |
2 | g.51026388G>T | CA346823047 | NRXN1 | c.772+1114C>A (n.772+1114C>A) c.329+1114C>A n.66+1114C>A c.854C>A (p.Ala285Glu) c.297+1114C>A c.284C>A (p.Ala95Glu) | gnomAD v4 |
2 | g.51026389C>A | CA346823051 | NRXN1 | c.772+1113G>T (n.772+1113G>T) c.329+1113G>T n.66+1113G>T c.853G>T (p.Ala285Ser) c.297+1113G>T c.283G>T (p.Ala95Ser) | gnomAD v4 |
2 | g.51026389C= | CA1249877810 | NRXN1 | c.772+1113G= (n.772+1113G=) c.329+1113G= n.66+1113G= c.853G= (p.Ala285=) c.297+1113G= c.283G= (p.Ala95=) | |
2 | g.51026389C>G | CA346823050 | NRXN1 | c.772+1113G>C (n.772+1113G>C) c.329+1113G>C n.66+1113G>C c.853G>C (p.Ala285Pro) c.297+1113G>C c.283G>C (p.Ala95Pro) | |
2 | g.51026389C>T | CA1655383 | NRXN1 | c.772+1113G>A (n.772+1113G>A) c.329+1113G>A n.66+1113G>A c.853G>A (p.Ala285Thr) c.297+1113G>A c.283G>A (p.Ala95Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026390T>A | CA426106415 | NRXN1 | c.772+1112A>T (n.772+1112A>T) c.329+1112A>T n.66+1112A>T c.852A>T (p.Thr284=) c.297+1112A>T c.282A>T (p.Thr94=) | |
2 | g.51026390T>C | CA1655384 | NRXN1 | c.772+1112A>G (n.772+1112A>G) c.329+1112A>G n.66+1112A>G c.852A>G (p.Thr284=) c.297+1112A>G c.282A>G (p.Thr94=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026390T>G | CA426106414 | NRXN1 | c.772+1112A>C (n.772+1112A>C) c.329+1112A>C n.66+1112A>C c.852A>C (p.Thr284=) c.297+1112A>C c.282A>C (p.Thr94=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026390T= | CA1249877811 | NRXN1 | c.772+1112A= (n.772+1112A=) c.329+1112A= n.66+1112A= c.852A= (p.Thr284=) c.297+1112A= c.282A= (p.Thr94=) | |
2 | g.51026390_51026404delinsTGTATTTATACAACA | CA1249877812 | NRXN1 | c.772+1098_772+1112delinsTGTTGTATAAATACA (n.772+1098_772+1112delinsTGTTGTATAAATACA) c.329+1098_329+1112delinsTGTTGTATAAATACA n.66+1098_66+1112delinsTGTTGTATAAATACA c.838_852delinsTGTTGTATAAATACA (p.Cys280=) c.297+1098_297+1112delinsTGTTGTATAAATACA c.268_282delinsTGTTGTATAAATACA (p.Cys90=) | |
2 | g.51026391G>A | CA346823057 | NRXN1 | c.772+1111C>T (n.772+1111C>T) c.329+1111C>T n.66+1111C>T c.851C>T (p.Thr284Ile) c.297+1111C>T c.281C>T (p.Thr94Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026391G>C | CA346823053 | NRXN1 | c.772+1111C>G (n.772+1111C>G) c.329+1111C>G n.66+1111C>G c.851C>G (p.Thr284Arg) c.297+1111C>G c.281C>G (p.Thr94Arg) | |
2 | g.51026391G= | CA1249877814 | NRXN1 | c.772+1111C= (n.772+1111C=) c.329+1111C= n.66+1111C= c.851C= (p.Thr284=) c.297+1111C= c.281C= (p.Thr94=) | |
2 | g.51026391G>T | CA346823055 | NRXN1 | c.772+1111C>A (n.772+1111C>A) c.329+1111C>A n.66+1111C>A c.851C>A (p.Thr284Lys) c.297+1111C>A c.281C>A (p.Thr94Lys) | |
2 | g.51026397_51026410del | CA1249877813 | NRXN1 | c.772+1098_772+1111del (n.772+1098_772+1111del) c.329+1098_329+1111del n.66+1098_66+1111del c.838_851del (p.Cys280SerfsTer24) c.297+1098_297+1111del c.268_281del (p.Cys90SerfsTer24) | dbSNP |
2 | g.51026392T>A | CA346823059 | NRXN1 | c.772+1110A>T (n.772+1110A>T) c.329+1110A>T n.66+1110A>T c.850A>T (p.Thr284Ser) c.297+1110A>T c.280A>T (p.Thr94Ser) | |
2 | g.51026392T>C | CA346823060 | NRXN1 | c.772+1110A>G (n.772+1110A>G) c.329+1110A>G n.66+1110A>G c.850A>G (p.Thr284Ala) c.297+1110A>G c.280A>G (p.Thr94Ala) | |
2 | g.51026392T>G | CA346823061 | NRXN1 | c.772+1110A>C (n.772+1110A>C) c.329+1110A>C n.66+1110A>C c.850A>C (p.Thr284Pro) c.297+1110A>C c.280A>C (p.Thr94Pro) | |
2 | g.51026392dup | CA2659012555 | NRXN1 | c.772+1110dup (n.772+1110dup) c.329+1110dup n.66+1110dup c.850dup (p.Thr284AsnfsTer25) c.297+1110dup c.280dup (p.Thr94AsnfsTer25) | gnomAD v4 |
2 | g.51026393A= | CA1249877815 | NRXN1 | c.772+1109T= (n.772+1109T=) c.329+1109T= n.66+1109T= c.849T= (p.Asn283=) c.297+1109T= c.279T= (p.Asn93=) | |
2 | g.51026393A>C | CA346823063 | NRXN1 | c.772+1109T>G (n.772+1109T>G) c.329+1109T>G n.66+1109T>G c.849T>G (p.Asn283Lys) c.297+1109T>G c.279T>G (p.Asn93Lys) | |
2 | g.51026393A>G | CA426106416 | NRXN1 | c.772+1109T>C (n.772+1109T>C) c.329+1109T>C n.66+1109T>C c.849T>C (p.Asn283=) c.297+1109T>C c.279T>C (p.Asn93=) | |
2 | g.51026393A>T | CA346823064 | NRXN1 | c.772+1109T>A (n.772+1109T>A) c.329+1109T>A n.66+1109T>A c.849T>A (p.Asn283Lys) c.297+1109T>A c.279T>A (p.Asn93Lys) | dbSNP gnomAD v4 |
2 | g.51026394T>A | CA346823066 | NRXN1 | c.772+1108A>T (n.772+1108A>T) c.329+1108A>T n.66+1108A>T c.848A>T (p.Asn283Ile) c.297+1108A>T c.278A>T (p.Asn93Ile) | |
2 | g.51026394T>C | CA346823069 | NRXN1 | c.772+1108A>G (n.772+1108A>G) c.329+1108A>G n.66+1108A>G c.848A>G (p.Asn283Ser) c.297+1108A>G c.278A>G (p.Asn93Ser) | |
2 | g.51026394T>G | CA346823068 | NRXN1 | c.772+1108A>C (n.772+1108A>C) c.329+1108A>C n.66+1108A>C c.848A>C (p.Asn283Thr) c.297+1108A>C c.278A>C (p.Asn93Thr) | |
2 | g.51026395T>A | CA346823070 | NRXN1 | c.772+1107A>T (n.772+1107A>T) c.329+1107A>T n.66+1107A>T c.847A>T (p.Asn283Tyr) c.297+1107A>T c.277A>T (p.Asn93Tyr) | dbSNP |
2 | g.51026395T>C | CA346823072 | NRXN1 | c.772+1107A>G (n.772+1107A>G) c.329+1107A>G n.66+1107A>G c.847A>G (p.Asn283Asp) c.297+1107A>G c.277A>G (p.Asn93Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.51026395T>G | CA346823074 | NRXN1 | c.772+1107A>C (n.772+1107A>C) c.329+1107A>C n.66+1107A>C c.847A>C (p.Asn283His) c.297+1107A>C c.277A>C (p.Asn93His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026395T= | CA1249877816 | NRXN1 | c.772+1107A= (n.772+1107A=) c.329+1107A= n.66+1107A= c.847A= (p.Asn283=) c.297+1107A= c.277A= (p.Asn93=) | |
2 | g.51026396T>A | CA426106417 | NRXN1 | c.772+1106A>T (n.772+1106A>T) c.329+1106A>T n.66+1106A>T c.846A>T (p.Ile282=) c.297+1106A>T c.276A>T (p.Ile92=) | |
2 | g.51026396T>C | CA346823075 | NRXN1 | c.772+1106A>G (n.772+1106A>G) c.329+1106A>G n.66+1106A>G c.846A>G (p.Ile282Met) c.297+1106A>G c.276A>G (p.Ile92Met) | |
2 | g.51026396T>G | CA426106418 | NRXN1 | c.772+1106A>C (n.772+1106A>C) c.329+1106A>C n.66+1106A>C c.846A>C (p.Ile282=) c.297+1106A>C c.276A>C (p.Ile92=) | |
2 | g.51026397A= | CA1249877817 | NRXN1 | c.772+1105T= (n.772+1105T=) c.329+1105T= n.66+1105T= c.845T= (p.Ile282=) c.297+1105T= c.275T= (p.Ile92=) | |
2 | g.51026397A>C | CA346823077 | NRXN1 | c.772+1105T>G (n.772+1105T>G) c.329+1105T>G n.66+1105T>G c.845T>G (p.Ile282Arg) c.297+1105T>G c.275T>G (p.Ile92Arg) | |
2 | g.51026397A>G | CA346823081 | NRXN1 | c.772+1105T>C (n.772+1105T>C) c.329+1105T>C n.66+1105T>C c.845T>C (p.Ile282Thr) c.297+1105T>C c.275T>C (p.Ile92Thr) | |
2 | g.51026397A>T | CA346823080 | NRXN1 | c.772+1105T>A (n.772+1105T>A) c.329+1105T>A n.66+1105T>A c.845T>A (p.Ile282Lys) c.297+1105T>A c.275T>A (p.Ile92Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.51026398T>A | CA346823083 | NRXN1 | c.772+1104A>T (n.772+1104A>T) c.329+1104A>T n.66+1104A>T c.844A>T (p.Ile282Leu) c.297+1104A>T c.274A>T (p.Ile92Leu) | |
2 | g.51026398T>C | CA346823085 | NRXN1 | c.772+1104A>G (n.772+1104A>G) c.329+1104A>G n.66+1104A>G c.844A>G (p.Ile282Val) c.297+1104A>G c.274A>G (p.Ile92Val) | ClinVar dbSNP |
2 | g.51026398T>G | CA346823087 | NRXN1 | c.772+1104A>C (n.772+1104A>C) c.329+1104A>C n.66+1104A>C c.844A>C (p.Ile282Leu) c.297+1104A>C c.274A>C (p.Ile92Leu) | |
2 | g.51026399A= | CA1249877818 | NRXN1 | c.772+1103T= (n.772+1103T=) c.329+1103T= n.66+1103T= c.843T= (p.Cys281=) c.297+1103T= c.273T= (p.Cys91=) | |
2 | g.51026399A>C | CA346823089 | NRXN1 | c.772+1103T>G (n.772+1103T>G) c.329+1103T>G n.66+1103T>G c.843T>G (p.Cys281Trp) c.297+1103T>G c.273T>G (p.Cys91Trp) | |
2 | g.51026399A>G | CA426106419 | NRXN1 | c.772+1103T>C (n.772+1103T>C) c.329+1103T>C n.66+1103T>C c.843T>C (p.Cys281=) c.297+1103T>C c.273T>C (p.Cys91=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026399A>T | CA346823090 | NRXN1 | c.772+1103T>A (n.772+1103T>A) c.329+1103T>A n.66+1103T>A c.843T>A (p.Cys281Ter) c.297+1103T>A c.273T>A (p.Cys91Ter) | gnomAD v4 |
2 | g.51026399_51026400delinsAC | CA1249877819 | NRXN1 | c.772+1102_772+1103delinsGT (n.772+1102_772+1103delinsGT) c.329+1102_329+1103delinsGT n.66+1102_66+1103delinsGT c.842_843delinsGT (p.Cys281=) c.297+1102_297+1103delinsGT c.272_273delinsGT (p.Cys91=) | |
2 | g.51026400del | CA915943904 | NRXN1 | c.772+1102del (n.772+1102del) c.329+1102del n.66+1102del c.842del (p.Cys281LeufsTer2) c.297+1102del c.272del (p.Cys91LeufsTer2) | ClinVar dbSNP |
2 | g.51026400C>A | CA346823092 | NRXN1 | c.772+1102G>T (n.772+1102G>T) c.329+1102G>T n.66+1102G>T c.842G>T (p.Cys281Phe) c.297+1102G>T c.272G>T (p.Cys91Phe) | gnomAD v4 |
2 | g.51026400C= | CA1249877820 | NRXN1 | c.772+1102G= (n.772+1102G=) c.329+1102G= n.66+1102G= c.842G= (p.Cys281=) c.297+1102G= c.272G= (p.Cys91=) | |
2 | g.51026400C>G | CA346823094 | NRXN1 | c.772+1102G>C (n.772+1102G>C) c.329+1102G>C n.66+1102G>C c.842G>C (p.Cys281Ser) c.297+1102G>C c.272G>C (p.Cys91Ser) | |
2 | g.51026400C>T | CA1655385 | NRXN1 | c.772+1102G>A (n.772+1102G>A) c.329+1102G>A n.66+1102G>A c.842G>A (p.Cys281Tyr) c.297+1102G>A c.272G>A (p.Cys91Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.51026401A= | CA1249877821 | NRXN1 | c.772+1101T= (n.772+1101T=) c.329+1101T= n.66+1101T= c.841T= (p.Cys281=) c.297+1101T= c.271T= (p.Cys91=) | |
2 | g.51026401A>C | CA346823097 | NRXN1 | c.772+1101T>G (n.772+1101T>G) c.329+1101T>G n.66+1101T>G c.841T>G (p.Cys281Gly) c.297+1101T>G c.271T>G (p.Cys91Gly) | |
2 | g.51026401A>G | CA346823098 | NRXN1 | c.772+1101T>C (n.772+1101T>C) c.329+1101T>C n.66+1101T>C c.841T>C (p.Cys281Arg) c.297+1101T>C c.271T>C (p.Cys91Arg) | ClinVar dbSNP |
2 | g.51026401A>T | CA346823099 | NRXN1 | c.772+1101T>A (n.772+1101T>A) c.329+1101T>A n.66+1101T>A c.841T>A (p.Cys281Ser) c.297+1101T>A c.271T>A (p.Cys91Ser) | |
2 | g.51026401_51026402insCACACACACACACACACACACACACACAC | CA1249877822 | NRXN1 | c.772+1100_772+1101insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG (n.772+1100_772+1101insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG) c.329+1100_329+1101insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG n.66+1100_66+1101insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG c.840_841insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG (p.Cys281ValfsTer12) c.297+1100_297+1101insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG c.270_271insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG (p.Cys91ValfsTer12) | dbSNP |
2 | g.51026402A= | CA1249877823 | NRXN1 | c.772+1100T= (n.772+1100T=) c.329+1100T= n.66+1100T= c.840T= (p.Cys280=) c.297+1100T= c.270T= (p.Cys90=) | |
2 | g.51026402A>C | CA346823101 | NRXN1 | c.772+1100T>G (n.772+1100T>G) c.329+1100T>G n.66+1100T>G c.840T>G (p.Cys280Trp) c.297+1100T>G c.270T>G (p.Cys90Trp) | |
2 | g.51026402A>G | CA426106420 | NRXN1 | c.772+1100T>C (n.772+1100T>C) c.329+1100T>C n.66+1100T>C c.840T>C (p.Cys280=) c.297+1100T>C c.270T>C (p.Cys90=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.51026402A>T | CA346823102 | NRXN1 | c.772+1100T>A (n.772+1100T>A) c.329+1100T>A n.66+1100T>A c.840T>A (p.Cys280Ter) c.297+1100T>A c.270T>A (p.Cys90Ter) | |
2 | g.51026403C>A | CA346823104 | NRXN1 | c.772+1099G>T (n.772+1099G>T) c.329+1099G>T n.66+1099G>T c.839G>T (p.Cys280Phe) c.297+1099G>T c.269G>T (p.Cys90Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.51026403C= | CA1249877824 | NRXN1 | c.772+1099G= (n.772+1099G=) c.329+1099G= n.66+1099G= c.839G= (p.Cys280=) c.297+1099G= c.269G= (p.Cys90=) | |
2 | g.51026403C>G | CA346823105 | NRXN1 | c.772+1099G>C (n.772+1099G>C) c.329+1099G>C n.66+1099G>C c.839G>C (p.Cys280Ser) c.297+1099G>C c.269G>C (p.Cys90Ser) | |
2 | g.51026403C>T | CA346823106 | NRXN1 | c.772+1099G>A (n.772+1099G>A) c.329+1099G>A n.66+1099G>A c.839G>A (p.Cys280Tyr) c.297+1099G>A c.269G>A (p.Cys90Tyr) | dbSNP gnomAD v4 |
2 | g.51026404A>C | CA346823108 | NRXN1 | c.772+1098T>G (n.772+1098T>G) c.329+1098T>G n.66+1098T>G c.838T>G (p.Cys280Gly) c.297+1098T>G c.268T>G (p.Cys90Gly) | dbSNP |
2 | g.51026404A>G | CA346823110 | NRXN1 | c.772+1098T>C (n.772+1098T>C) c.329+1098T>C n.66+1098T>C c.838T>C (p.Cys280Arg) c.297+1098T>C c.268T>C (p.Cys90Arg) | |
2 | g.51026404A>T | CA346823111 | NRXN1 | c.772+1098T>A (n.772+1098T>A) c.329+1098T>A n.66+1098T>A c.838T>A (p.Cys280Ser) c.297+1098T>A c.268T>A (p.Cys90Ser) | |
2 | g.51026405G>A | CA426106421 | NRXN1 | c.772+1097C>T (n.772+1097C>T) c.329+1097C>T n.66+1097C>T c.837C>T (p.Tyr279=) c.297+1097C>T c.267C>T (p.Tyr89=) | gnomAD v4 |
2 | g.51026405G>C | CA346823113 | NRXN1 | c.772+1097C>G (n.772+1097C>G) c.329+1097C>G n.66+1097C>G c.837C>G (p.Tyr279Ter) c.297+1097C>G c.267C>G (p.Tyr89Ter) | |
2 | g.51026405G>T | CA346823115 | NRXN1 | c.772+1097C>A (n.772+1097C>A) c.329+1097C>A n.66+1097C>A c.837C>A (p.Tyr279Ter) c.297+1097C>A c.267C>A (p.Tyr89Ter) | |
2 | g.51026406T>A | CA346823117 | NRXN1 | c.772+1096A>T (n.772+1096A>T) c.329+1096A>T n.66+1096A>T c.836A>T (p.Tyr279Phe) c.297+1096A>T c.266A>T (p.Tyr89Phe) | |
2 | g.51026406T>C | CA346823119 | NRXN1 | c.772+1096A>G (n.772+1096A>G) c.329+1096A>G n.66+1096A>G c.836A>G (p.Tyr279Cys) c.297+1096A>G c.266A>G (p.Tyr89Cys) | |
2 | g.51026406T>G | CA346823120 | NRXN1 | c.772+1096A>C (n.772+1096A>C) c.329+1096A>C n.66+1096A>C c.836A>C (p.Tyr279Ser) c.297+1096A>C c.266A>C (p.Tyr89Ser) | |
2 | g.51026407A>C | CA346823122 | NRXN1 | c.772+1095T>G (n.772+1095T>G) c.329+1095T>G n.66+1095T>G c.835T>G (p.Tyr279Asp) c.297+1095T>G c.265T>G (p.Tyr89Asp) | |
2 | g.51026407A>G | CA346823124 | NRXN1 | c.772+1095T>C (n.772+1095T>C) c.329+1095T>C n.66+1095T>C c.835T>C (p.Tyr279His) c.297+1095T>C c.265T>C (p.Tyr89His) | |
2 | g.51026407A>T | CA346823125 | NRXN1 | c.772+1095T>A (n.772+1095T>A) c.329+1095T>A n.66+1095T>A c.835T>A (p.Tyr279Asn) c.297+1095T>A c.265T>A (p.Tyr89Asn) | |
2 | g.51026408T>A | CA346823127 | NRXN1 | c.772+1094A>T (n.772+1094A>T) c.329+1094A>T n.66+1094A>T c.834A>T (p.Lys278Asn) c.297+1094A>T c.264A>T (p.Lys88Asn) | |
2 | g.51026408T>C | CA426106422 | NRXN1 | c.772+1094A>G (n.772+1094A>G) c.329+1094A>G n.66+1094A>G c.834A>G (p.Lys278=) c.297+1094A>G c.264A>G (p.Lys88=) | ClinVar dbSNP gnomAD v2 |
2 | g.51026408T>G | CA316171 | NRXN1 | c.772+1094A>C (n.772+1094A>C) c.329+1094A>C n.66+1094A>C c.834A>C (p.Lys278Asn) c.297+1094A>C c.264A>C (p.Lys88Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.51026408T= | CA1249877825 | NRXN1 | c.772+1094A= (n.772+1094A=) c.329+1094A= n.66+1094A= c.834A= (p.Lys278=) c.297+1094A= c.264A= (p.Lys88=) | |
2 | g.51026409T>A | CA346823130 | NRXN1 | c.772+1093A>T (n.772+1093A>T) c.329+1093A>T n.66+1093A>T c.833A>T (p.Lys278Ile) c.297+1093A>T c.263A>T (p.Lys88Ile) | gnomAD v4 |
2 | g.51026409T>C | CA346823131 | NRXN1 | c.772+1093A>G (n.772+1093A>G) c.329+1093A>G n.66+1093A>G c.833A>G (p.Lys278Arg) c.297+1093A>G c.263A>G (p.Lys88Arg) | |
2 | g.51026409T>G | CA346823133 | NRXN1 | c.772+1093A>C (n.772+1093A>C) c.329+1093A>C n.66+1093A>C c.833A>C (p.Lys278Thr) c.297+1093A>C c.263A>C (p.Lys88Thr) | |
2 | g.51026410T>A | CA346823134 | NRXN1 | c.772+1092A>T (n.772+1092A>T) c.329+1092A>T n.66+1092A>T c.832A>T (p.Lys278Ter) c.297+1092A>T c.262A>T (p.Lys88Ter) | |
2 | g.51026410T>C | CA346823136 | NRXN1 | c.772+1092A>G (n.772+1092A>G) c.329+1092A>G n.66+1092A>G c.832A>G (p.Lys278Glu) c.297+1092A>G c.262A>G (p.Lys88Glu) | |
2 | g.51026410T>G | CA346823138 | NRXN1 | c.772+1092A>C (n.772+1092A>C) c.329+1092A>C n.66+1092A>C c.832A>C (p.Lys278Gln) c.297+1092A>C c.262A>C (p.Lys88Gln) | |
2 | g.51026411T>A | CA426106423 | NRXN1 | c.772+1091A>T (n.772+1091A>T) c.329+1091A>T n.66+1091A>T c.831A>T (p.Gly277=) c.297+1091A>T c.261A>T (p.Gly87=) | |
2 | g.51026411T>C | CA426106424 | NRXN1 | c.772+1091A>G (n.772+1091A>G) c.329+1091A>G n.66+1091A>G c.831A>G (p.Gly277=) c.297+1091A>G c.261A>G (p.Gly87=) | |
2 | g.51026411T>G | CA426106425 | NRXN1 | c.772+1091A>C (n.772+1091A>C) c.329+1091A>C n.66+1091A>C c.831A>C (p.Gly277=) c.297+1091A>C c.261A>C (p.Gly87=) | gnomAD v4 |