Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.51026311_51028334del | CA1139657030 | NRXN1 | c.-59_772+1193del c.-59_871+62del | ClinVar |
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.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 |
2 | g.51026412C>A | CA346823139 | NRXN1 | c.772+1090G>T (n.772+1090G>T) c.329+1090G>T n.66+1090G>T c.830G>T (p.Gly277Val) c.297+1090G>T c.260G>T (p.Gly87Val) | gnomAD v4 |
2 | g.51026412C>G | CA346823141 | NRXN1 | c.772+1090G>C (n.772+1090G>C) c.329+1090G>C n.66+1090G>C c.830G>C (p.Gly277Ala) c.297+1090G>C c.260G>C (p.Gly87Ala) | gnomAD v4 |
2 | g.51026412C>T | CA346823142 | NRXN1 | c.772+1090G>A (n.772+1090G>A) c.329+1090G>A n.66+1090G>A c.830G>A (p.Gly277Glu) c.297+1090G>A c.260G>A (p.Gly87Glu) | |
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) |