| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42682830_42689520del | CA915950015 | CNTNAP1 | c.1_1629-1del c.-1020_1401-1del | ClinVar |
| 17 | g.42687805T>A | CA399637806 | CNTNAP1 | c.1130T>A (p.Phe377Tyr) n.545T>A c.902T>A (p.Phe301Tyr) | |
| 17 | g.42687805T>C | CA399637808 | CNTNAP1 | c.1130T>C (p.Phe377Ser) n.545T>C c.902T>C (p.Phe301Ser) | |
| 17 | g.42687805T>G | CA399637809 | CNTNAP1 | c.1130T>G (p.Phe377Cys) n.545T>G c.902T>G (p.Phe301Cys) | |
| 17 | g.42687806C>A | CA399637812 | CNTNAP1 | c.1131C>A (p.Phe377Leu) n.546C>A c.903C>A (p.Phe301Leu) | |
| 17 | g.42687806C>G | CA399637813 | CNTNAP1 | c.1131C>G (p.Phe377Leu) n.546C>G c.903C>G (p.Phe301Leu) | |
| 17 | g.42687806C>T | CA500091232 | CNTNAP1 | c.1131C>T (p.Phe377=) n.546C>T c.903C>T (p.Phe301=) | |
| 17 | g.42687807C>A | CA290793051 | CNTNAP1 | c.1132C>A (p.Pro378Thr) n.547C>A c.904C>A (p.Pro302Thr) | dbSNP |
| 17 | g.42687807C= | CA2260598543 | CNTNAP1 | c.1132C= (p.Pro378=) n.547C= c.904C= (p.Pro302=) | |
| 17 | g.42687807C>G | CA399637815 | CNTNAP1 | c.1132C>G (p.Pro378Ala) n.547C>G c.904C>G (p.Pro302Ala) | |
| 17 | g.42687807C>T | CA399637817 | CNTNAP1 | c.1132C>T (p.Pro378Ser) n.547C>T c.904C>T (p.Pro302Ser) | gnomAD v4 |
| 17 | g.42687808C>A | CA399637820 | CNTNAP1 | c.1133C>A (p.Pro378Gln) n.548C>A c.905C>A (p.Pro302Gln) | dbSNP |
| 17 | g.42687808C>G | CA399637821 | CNTNAP1 | c.1133C>G (p.Pro378Arg) n.548C>G c.905C>G (p.Pro302Arg) | |
| 17 | g.42687808C>T | CA399637823 | CNTNAP1 | c.1133C>T (p.Pro378Leu) n.548C>T c.905C>T (p.Pro302Leu) | gnomAD v4 |
| 17 | g.42687809A>C | CA500091233 | CNTNAP1 | c.1134A>C (p.Pro378=) n.549A>C c.906A>C (p.Pro302=) | |
| 17 | g.42687809A>G | CA500091234 | CNTNAP1 | c.1134A>G (p.Pro378=) n.549A>G c.906A>G (p.Pro302=) | gnomAD v4 |
| 17 | g.42687809A>T | CA500091235 | CNTNAP1 | c.1134A>T (p.Pro378=) n.549A>T c.906A>T (p.Pro302=) | |
| 17 | g.42687810C>A | CA399637825 | CNTNAP1 | c.1135C>A (p.Arg379Ser) n.550C>A c.907C>A (p.Arg303Ser) | dbSNP gnomAD v2 |
| 17 | g.42687810C= | CA2260598544 | CNTNAP1 | c.1135C= (p.Arg379=) n.550C= c.907C= (p.Arg303=) | |
| 17 | g.42687810C>G | CA399637827 | CNTNAP1 | c.1135C>G (p.Arg379Gly) n.550C>G c.907C>G (p.Arg303Gly) | |
| 17 | g.42687810C>T | CA399637828 | CNTNAP1 | c.1135C>T (p.Arg379Cys) n.550C>T c.907C>T (p.Arg303Cys) | dbSNP gnomAD v4 |
| 17 | g.42687814_42687822del | CA2637974411 | CNTNAP1 | c.1139_1147del (p.Arg380_Arg382del) n.554_562del c.911_919del (p.Arg304_Arg306del) | gnomAD v4 |
| 17 | g.42687811G>A | CA8581715 | CNTNAP1 | c.1136G>A (p.Arg379His) n.551G>A c.908G>A (p.Arg303His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42687811G>C | CA399637831 | CNTNAP1 | c.1136G>C (p.Arg379Pro) n.551G>C c.908G>C (p.Arg303Pro) | |
| 17 | g.42687811G= | CA2260598545 | CNTNAP1 | c.1136G= (p.Arg379=) n.551G= c.908G= (p.Arg303=) | |
| 17 | g.42687811G>T | CA399637832 | CNTNAP1 | c.1136G>T (p.Arg379Leu) n.551G>T c.908G>T (p.Arg303Leu) | |
| 17 | g.42687812C>A | CA500091237 | CNTNAP1 | c.1137C>A (p.Arg379=) n.552C>A c.909C>A (p.Arg303=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42687812C= | CA2260598546 | CNTNAP1 | c.1137C= (p.Arg379=) n.552C= c.909C= (p.Arg303=) | |
| 17 | g.42687812C>G | CA500091236 | CNTNAP1 | c.1137C>G (p.Arg379=) n.552C>G c.909C>G (p.Arg303=) | |
| 17 | g.42687812C>T | CA500091238 | CNTNAP1 | c.1137C>T (p.Arg379=) n.552C>T c.909C>T (p.Arg303=) | |
| 17 | g.42687813C>A | CA399637834 | CNTNAP1 | c.1138C>A (p.Arg380Ser) n.553C>A c.910C>A (p.Arg304Ser) | |
| 17 | g.42687813C>G | CA399637836 | CNTNAP1 | c.1138C>G (p.Arg380Gly) n.553C>G c.910C>G (p.Arg304Gly) | |
| 17 | g.42687813C>T | CA399637837 | CNTNAP1 | c.1138C>T (p.Arg380Cys) n.553C>T c.910C>T (p.Arg304Cys) | COSMIC |
| 17 | g.42687814G>A | CA8581716 | CNTNAP1 | c.1139G>A (p.Arg380His) n.554G>A c.911G>A (p.Arg304His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.42687814G>C | CA399637842 | CNTNAP1 | c.1139G>C (p.Arg380Pro) n.554G>C c.911G>C (p.Arg304Pro) | |
| 17 | g.42687814G= | CA2260598547 | CNTNAP1 | c.1139G= (p.Arg380=) n.554G= c.911G= (p.Arg304=) | |
| 17 | g.42687814G>T | CA399637840 | CNTNAP1 | c.1139G>T (p.Arg380Leu) n.554G>T c.911G>T (p.Arg304Leu) | COSMIC |
| 17 | g.42687815T>A | CA500091240 | CNTNAP1 | c.1140T>A (p.Arg380=) n.555T>A c.912T>A (p.Arg304=) | |
| 17 | g.42687815T>C | CA500091239 | CNTNAP1 | c.1140T>C (p.Arg380=) n.555T>C c.912T>C (p.Arg304=) | |
| 17 | g.42687815T>G | CA8581717 | CNTNAP1 | c.1140T>G (p.Arg380=) n.555T>G c.912T>G (p.Arg304=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687815T= | CA2260598548 | CNTNAP1 | c.1140T= (p.Arg380=) n.555T= c.912T= (p.Arg304=) | |
| 17 | g.42687816G>A | CA399637845 | CNTNAP1 | c.1141G>A (p.Gly381Ser) n.556G>A c.913G>A (p.Gly305Ser) | |
| 17 | g.42687816G>C | CA399637846 | CNTNAP1 | c.1141G>C (p.Gly381Arg) n.556G>C c.913G>C (p.Gly305Arg) | |
| 17 | g.42687816G>T | CA399637848 | CNTNAP1 | c.1141G>T (p.Gly381Cys) n.556G>T c.913G>T (p.Gly305Cys) | |
| 17 | g.42687817G>A | CA399637850 | CNTNAP1 | c.1142G>A (p.Gly381Asp) n.557G>A c.914G>A (p.Gly305Asp) | dbSNP COSMIC |
| 17 | g.42687817G>C | CA399637852 | CNTNAP1 | c.1142G>C (p.Gly381Ala) n.557G>C c.914G>C (p.Gly305Ala) | dbSNP |
| 17 | g.42687817G>T | CA399637853 | CNTNAP1 | c.1142G>T (p.Gly381Val) n.557G>T c.914G>T (p.Gly305Val) | |
| 17 | g.42687818C>A | CA500091241 | CNTNAP1 | c.1143C>A (p.Gly381=) n.558C>A c.915C>A (p.Gly305=) | |
| 17 | g.42687818C= | CA2260598549 | CNTNAP1 | c.1143C= (p.Gly381=) n.558C= c.915C= (p.Gly305=) | |
| 17 | g.42687818C>G | CA290793059 | CNTNAP1 | c.1143C>G (p.Gly381=) n.558C>G c.915C>G (p.Gly305=) | dbSNP gnomAD v4 |
| 17 | g.42687818C>T | CA500091242 | CNTNAP1 | c.1143C>T (p.Gly381=) n.558C>T c.915C>T (p.Gly305=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42687819C>A | CA399637856 | CNTNAP1 | c.1144C>A (p.Arg382Ser) n.559C>A c.916C>A (p.Arg306Ser) | COSMIC |
| 17 | g.42687819C>G | CA399637858 | CNTNAP1 | c.1144C>G (p.Arg382Gly) n.559C>G c.916C>G (p.Arg306Gly) | |
| 17 | g.42687819C>T | CA399637859 | CNTNAP1 | c.1144C>T (p.Arg382Cys) n.559C>T c.916C>T (p.Arg306Cys) | COSMIC |
| 17 | g.42687820G>A | CA399637865 | CNTNAP1 | c.1145G>A (p.Arg382His) n.560G>A c.917G>A (p.Arg306His) | dbSNP gnomAD v4 |
| 17 | g.42687820G>C | CA399637863 | CNTNAP1 | c.1145G>C (p.Arg382Pro) n.560G>C c.917G>C (p.Arg306Pro) | dbSNP |
| 17 | g.42687820G>T | CA399637860 | CNTNAP1 | c.1145G>T (p.Arg382Leu) n.560G>T c.917G>T (p.Arg306Leu) | gnomAD v4 |
| 17 | g.42687821C>A | CA500091243 | CNTNAP1 | c.1146C>A (p.Arg382=) n.561C>A c.918C>A (p.Arg306=) | |
| 17 | g.42687821C= | CA2260598550 | CNTNAP1 | c.1146C= (p.Arg382=) n.561C= c.918C= (p.Arg306=) | |
| 17 | g.42687821C>G | CA500091244 | CNTNAP1 | c.1146C>G (p.Arg382=) n.561C>G c.918C>G (p.Arg306=) | |
| 17 | g.42687821C>T | CA8581718 | CNTNAP1 | c.1146C>T (p.Arg382=) n.561C>T c.918C>T (p.Arg306=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687822C>A | CA399637868 | CNTNAP1 | c.1147C>A (p.Leu383Met) n.562C>A c.919C>A (p.Leu307Met) | |
| 17 | g.42687822C>G | CA399637870 | CNTNAP1 | c.1147C>G (p.Leu383Val) n.562C>G c.919C>G (p.Leu307Val) | |
| 17 | g.42687822C>T | CA500091245 | CNTNAP1 | c.1147C>T (p.Leu383=) n.562C>T c.919C>T (p.Leu307=) | |
| 17 | g.42687823T>A | CA399637872 | CNTNAP1 | c.1148T>A (p.Leu383Gln) n.563T>A c.920T>A (p.Leu307Gln) | |
| 17 | g.42687823T>C | CA399637873 | CNTNAP1 | c.1148T>C (p.Leu383Pro) n.563T>C c.920T>C (p.Leu307Pro) | |
| 17 | g.42687823T>G | CA399637875 | CNTNAP1 | c.1148T>G (p.Leu383Arg) n.563T>G c.920T>G (p.Leu307Arg) | |
| 17 | g.42687824G>A | CA500091248 | CNTNAP1 | c.1149G>A (p.Leu383=) n.564G>A c.921G>A (p.Leu307=) | |
| 17 | g.42687824G>C | CA500091246 | CNTNAP1 | c.1149G>C (p.Leu383=) n.564G>C c.921G>C (p.Leu307=) | |
| 17 | g.42687824G>T | CA500091247 | CNTNAP1 | c.1149G>T (p.Leu383=) n.564G>T c.921G>T (p.Leu307=) | |
| 17 | g.42687825G>A | CA399637877 | CNTNAP1 | c.1150G>A (p.Ala384Thr) n.565G>A c.922G>A (p.Ala308Thr) | |
| 17 | g.42687825G>C | CA399637878 | CNTNAP1 | c.1150G>C (p.Ala384Pro) n.565G>C c.922G>C (p.Ala308Pro) | |
| 17 | g.42687825G>T | CA399637879 | CNTNAP1 | c.1150G>T (p.Ala384Ser) n.565G>T c.922G>T (p.Ala308Ser) | |
| 17 | g.42687826C>A | CA399637881 | CNTNAP1 | c.1151C>A (p.Ala384Glu) n.566C>A c.923C>A (p.Ala308Glu) | dbSNP |
| 17 | g.42687826C>G | CA399637882 | CNTNAP1 | c.1151C>G (p.Ala384Gly) n.566C>G c.923C>G (p.Ala308Gly) | |
| 17 | g.42687826C>T | CA399637884 | CNTNAP1 | c.1151C>T (p.Ala384Val) n.566C>T c.923C>T (p.Ala308Val) | |
| 17 | g.42687827A>C | CA500091250 | CNTNAP1 | c.1152A>C (p.Ala384=) n.567A>C c.924A>C (p.Ala308=) | |
| 17 | g.42687827A>G | CA500091251 | CNTNAP1 | c.1152A>G (p.Ala384=) n.567A>G c.924A>G (p.Ala308=) | |
| 17 | g.42687827A>T | CA500091249 | CNTNAP1 | c.1152A>T (p.Ala384=) n.567A>T c.924A>T (p.Ala308=) | |
| 17 | g.42687828G>A | CA399637887 | CNTNAP1 | c.1153G>A (p.Val385Ile) n.568G>A c.925G>A (p.Val309Ile) | dbSNP |
| 17 | g.42687828G>C | CA8581719 | CNTNAP1 | c.1153G>C (p.Val385Leu) n.568G>C c.925G>C (p.Val309Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687828G= | CA2260598551 | CNTNAP1 | c.1153G= (p.Val385=) n.568G= c.925G= (p.Val309=) | |
| 17 | g.42687828G>T | CA399637886 | CNTNAP1 | c.1153G>T (p.Val385Phe) n.568G>T c.925G>T (p.Val309Phe) | |
| 17 | g.42687829T>A | CA399637892 | CNTNAP1 | c.1154T>A (p.Val385Asp) n.569T>A c.926T>A (p.Val309Asp) | |
| 17 | g.42687829T>C | CA399637890 | CNTNAP1 | c.1154T>C (p.Val385Ala) n.569T>C c.926T>C (p.Val309Ala) | ClinVar gnomAD v4 COSMIC |
| 17 | g.42687829T>G | CA399637894 | CNTNAP1 | c.1154T>G (p.Val385Gly) n.569T>G c.926T>G (p.Val309Gly) | |
| 17 | g.42687830C>A | CA500091254 | CNTNAP1 | c.1155C>A (p.Val385=) n.570C>A c.927C>A (p.Val309=) | |
| 17 | g.42687830C= | CA2260598552 | CNTNAP1 | c.1155C= (p.Val385=) n.570C= c.927C= (p.Val309=) | |
| 17 | g.42687830C>G | CA500091252 | CNTNAP1 | c.1155C>G (p.Val385=) n.570C>G c.927C>G (p.Val309=) | |
| 17 | g.42687830C>T | CA500091253 | CNTNAP1 | c.1155C>T (p.Val385=) n.570C>T c.927C>T (p.Val309=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687831T>A | CA399637896 | CNTNAP1 | c.1156T>A (p.Ser386Thr) n.571T>A c.928T>A (p.Ser310Thr) | |
| 17 | g.42687831T>C | CA399637897 | CNTNAP1 | c.1156T>C (p.Ser386Pro) n.571T>C c.928T>C (p.Ser310Pro) | |
| 17 | g.42687831T>G | CA399637898 | CNTNAP1 | c.1156T>G (p.Ser386Ala) n.571T>G c.928T>G (p.Ser310Ala) | |
| 17 | g.42687832C>A | CA399637900 | CNTNAP1 | c.1157C>A (p.Ser386Ter) n.572C>A c.929C>A (p.Ser310Ter) | |
| 17 | g.42687832C>G | CA399637902 | CNTNAP1 | c.1157C>G (p.Ser386Ter) n.572C>G c.929C>G (p.Ser310Ter) | |
| 17 | g.42687832C>T | CA399637903 | CNTNAP1 | c.1157C>T (p.Ser386Leu) n.572C>T c.929C>T (p.Ser310Leu) | |
| 17 | g.42687833A= | CA2260598553 | CNTNAP1 | c.1158A= (p.Ser386=) n.573A= c.930A= (p.Ser310=) | |
| 17 | g.42687833A>C | CA500091255 | CNTNAP1 | c.1158A>C (p.Ser386=) n.573A>C c.930A>C (p.Ser310=) | gnomAD v4 |
| 17 | g.42687833A>G | CA8581720 | CNTNAP1 | c.1158A>G (p.Ser386=) n.573A>G c.930A>G (p.Ser310=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687833A>T | CA500091256 | CNTNAP1 | c.1158A>T (p.Ser386=) n.573A>T c.930A>T (p.Ser310=) | |
| 17 | g.42687833_42687834insGCTGGGAATTCAGT | CA2733741104 | CNTNAP1 | c.1158_1159insGCTGGGAATTCAGT (p.Phe387AlafsTer31) n.573_574insGCTGGGAATTCAGT c.930_931insGCTGGGAATTCAGT (p.Phe311AlafsTer31) | dbSNP |
| 17 | g.42687834T>A | CA399637906 | CNTNAP1 | c.1159T>A (p.Phe387Ile) n.574T>A c.931T>A (p.Phe311Ile) | |
| 17 | g.42687834T>C | CA399637908 | CNTNAP1 | c.1159T>C (p.Phe387Leu) n.574T>C c.931T>C (p.Phe311Leu) | |
| 17 | g.42687834T>G | CA399637910 | CNTNAP1 | c.1159T>G (p.Phe387Val) n.574T>G c.931T>G (p.Phe311Val) | |
| 17 | g.42687835T>A | CA399637912 | CNTNAP1 | c.1160T>A (p.Phe387Tyr) n.575T>A c.932T>A (p.Phe311Tyr) | |
| 17 | g.42687835T>C | CA399637914 | CNTNAP1 | c.1160T>C (p.Phe387Ser) n.575T>C c.932T>C (p.Phe311Ser) | gnomAD v4 |
| 17 | g.42687835T>G | CA399637915 | CNTNAP1 | c.1160T>G (p.Phe387Cys) n.575T>G c.932T>G (p.Phe311Cys) | |
| 17 | g.42687836T>A | CA399637917 | CNTNAP1 | c.1161T>A (p.Phe387Leu) n.576T>A c.933T>A (p.Phe311Leu) | |
| 17 | g.42687836T>C | CA500091280 | CNTNAP1 | c.1161T>C (p.Phe387=) n.576T>C c.933T>C (p.Phe311=) | |
| 17 | g.42687836T>G | CA399637918 | CNTNAP1 | c.1161T>G (p.Phe387Leu) n.576T>G c.933T>G (p.Phe311Leu) | |
| 17 | g.42687837C>A | CA8581721 | CNTNAP1 | c.1162C>A (p.Arg388Ser) n.577C>A c.934C>A (p.Arg312Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687837C= | CA2260598554 | CNTNAP1 | c.1162C= (p.Arg388=) n.577C= c.934C= (p.Arg312=) | |
| 17 | g.42687837C>G | CA399637922 | CNTNAP1 | c.1162C>G (p.Arg388Gly) n.577C>G c.934C>G (p.Arg312Gly) | |
| 17 | g.42687837C>T | CA290793075 | CNTNAP1 | c.1162C>T (p.Arg388Cys) n.577C>T c.934C>T (p.Arg312Cys) | dbSNP gnomAD v4 |
| 17 | g.42687838G>A | CA399637923 | CNTNAP1 | c.1163G>A (p.Arg388His) n.578G>A c.935G>A (p.Arg312His) | |
| 17 | g.42687838G>C | CA8581722 | CNTNAP1 | c.1163G>C (p.Arg388Pro) n.578G>C c.935G>C (p.Arg312Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687838G= | CA2260598555 | CNTNAP1 | c.1163G= (p.Arg388=) n.578G= c.935G= (p.Arg312=) | |
| 17 | g.42687838G>T | CA399637926 | CNTNAP1 | c.1163G>T (p.Arg388Leu) n.578G>T c.935G>T (p.Arg312Leu) | dbSNP |
| 17 | g.42687839C>A | CA500091282 | CNTNAP1 | c.1164C>A (p.Arg388=) n.579C>A c.936C>A (p.Arg312=) | |
| 17 | g.42687839C= | CA2260598556 | CNTNAP1 | c.1164C= (p.Arg388=) n.579C= c.936C= (p.Arg312=) | |
| 17 | g.42687839C>G | CA500091283 | CNTNAP1 | c.1164C>G (p.Arg388=) n.579C>G c.936C>G (p.Arg312=) | |
| 17 | g.42687839C>T | CA8581723 | CNTNAP1 | c.1164C>T (p.Arg388=) n.579C>T c.936C>T (p.Arg312=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687840T>A | CA399637927 | CNTNAP1 | c.1165T>A (p.Phe389Ile) n.580T>A c.937T>A (p.Phe313Ile) | |
| 17 | g.42687840T>C | CA399637928 | CNTNAP1 | c.1165T>C (p.Phe389Leu) n.580T>C c.937T>C (p.Phe313Leu) | |
| 17 | g.42687840T>G | CA399637930 | CNTNAP1 | c.1165T>G (p.Phe389Val) n.580T>G c.937T>G (p.Phe313Val) | |
| 17 | g.42687841T>A | CA399637932 | CNTNAP1 | c.1166T>A (p.Phe389Tyr) n.581T>A c.938T>A (p.Phe313Tyr) | |
| 17 | g.42687841T>C | CA399637934 | CNTNAP1 | c.1166T>C (p.Phe389Ser) n.581T>C c.938T>C (p.Phe313Ser) | |
| 17 | g.42687841T>G | CA399637936 | CNTNAP1 | c.1166T>G (p.Phe389Cys) n.581T>G c.938T>G (p.Phe313Cys) | |
| 17 | g.42687842C>A | CA399637938 | CNTNAP1 | c.1167C>A (p.Phe389Leu) n.582C>A c.939C>A (p.Phe313Leu) | |
| 17 | g.42687842C= | CA2260598557 | CNTNAP1 | c.1167C= (p.Phe389=) n.582C= c.939C= (p.Phe313=) | |
| 17 | g.42687842C>G | CA399637941 | CNTNAP1 | c.1167C>G (p.Phe389Leu) n.582C>G c.939C>G (p.Phe313Leu) | |
| 17 | g.42687842C>T | CA8581724 | CNTNAP1 | c.1167C>T (p.Phe389=) n.582C>T c.939C>T (p.Phe313=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687843C>A | CA399637943 | CNTNAP1 | c.1168C>A (p.Arg390Ser) n.583C>A c.940C>A (p.Arg314Ser) | |
| 17 | g.42687843C>G | CA399637944 | CNTNAP1 | c.1168C>G (p.Arg390Gly) n.583C>G c.940C>G (p.Arg314Gly) | |
| 17 | g.42687843C>T | CA399637946 | CNTNAP1 | c.1168C>T (p.Arg390Cys) n.583C>T c.940C>T (p.Arg314Cys) | gnomAD v4 |
| 17 | g.42687844G>A | CA399637948 | CNTNAP1 | c.1169G>A (p.Arg390His) n.584G>A c.941G>A (p.Arg314His) | |
| 17 | g.42687844G>C | CA399637950 | CNTNAP1 | c.1169G>C (p.Arg390Pro) n.584G>C c.941G>C (p.Arg314Pro) | |
| 17 | g.42687844G>T | CA399637951 | CNTNAP1 | c.1169G>T (p.Arg390Leu) n.584G>T c.941G>T (p.Arg314Leu) | |
| 17 | g.42687845C>A | CA500091287 | CNTNAP1 | c.1170C>A (p.Arg390=) n.585C>A c.942C>A (p.Arg314=) | |
| 17 | g.42687845C>G | CA500091289 | CNTNAP1 | c.1170C>G (p.Arg390=) n.585C>G c.942C>G (p.Arg314=) | |
| 17 | g.42687845C>T | CA500091288 | CNTNAP1 | c.1170C>T (p.Arg390=) n.585C>T c.942C>T (p.Arg314=) | gnomAD v4 |
| 17 | g.42687846A>C | CA399637953 | CNTNAP1 | c.1171A>C (p.Thr391Pro) n.586A>C c.943A>C (p.Thr315Pro) | gnomAD v4 |
| 17 | g.42687846A>G | CA399637954 | CNTNAP1 | c.1171A>G (p.Thr391Ala) n.586A>G c.943A>G (p.Thr315Ala) | |
| 17 | g.42687846A>T | CA399637956 | CNTNAP1 | c.1171A>T (p.Thr391Ser) n.586A>T c.943A>T (p.Thr315Ser) | gnomAD v4 |
| 17 | g.42687847C>A | CA399637958 | CNTNAP1 | c.1172C>A (p.Thr391Asn) n.587C>A c.944C>A (p.Thr315Asn) | |
| 17 | g.42687847C>G | CA399637959 | CNTNAP1 | c.1172C>G (p.Thr391Ser) n.587C>G c.944C>G (p.Thr315Ser) | |
| 17 | g.42687847C>T | CA399637961 | CNTNAP1 | c.1172C>T (p.Thr391Ile) n.587C>T c.944C>T (p.Thr315Ile) | |
| 17 | g.42687848C>A | CA500091292 | CNTNAP1 | c.1173C>A (p.Thr391=) n.588C>A c.945C>A (p.Thr315=) | |
| 17 | g.42687848C= | CA2260598558 | CNTNAP1 | c.1173C= (p.Thr391=) n.588C= c.945C= (p.Thr315=) | |
| 17 | g.42687848C>G | CA8581726 | CNTNAP1 | c.1173C>G (p.Thr391=) n.588C>G c.945C>G (p.Thr315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687848C>T | CA8581725 | CNTNAP1 | c.1173C>T (p.Thr391=) n.588C>T c.945C>T (p.Thr315=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687849T>A | CA399637965 | CNTNAP1 | c.1174T>A (p.Trp392Arg) n.589T>A c.946T>A (p.Trp316Arg) | |
| 17 | g.42687849T>C | CA399637967 | CNTNAP1 | c.1174T>C (p.Trp392Arg) n.589T>C c.946T>C (p.Trp316Arg) | |
| 17 | g.42687849T>G | CA399637968 | CNTNAP1 | c.1174T>G (p.Trp392Gly) n.589T>G c.946T>G (p.Trp316Gly) | gnomAD v4 |
| 17 | g.42687850G>A | CA399637971 | CNTNAP1 | c.1175G>A (p.Trp392Ter) n.590G>A c.947G>A (p.Trp316Ter) | gnomAD v4 |
| 17 | g.42687850G>C | CA399637972 | CNTNAP1 | c.1175G>C (p.Trp392Ser) n.590G>C c.947G>C (p.Trp316Ser) | |
| 17 | g.42687850G>T | CA399637974 | CNTNAP1 | c.1175G>T (p.Trp392Leu) n.590G>T c.947G>T (p.Trp316Leu) | |
| 17 | g.42687851G>A | CA399637976 | CNTNAP1 | c.1176G>A (p.Trp392Ter) n.591G>A c.948G>A (p.Trp316Ter) | |
| 17 | g.42687851G>C | CA399637978 | CNTNAP1 | c.1176G>C (p.Trp392Cys) n.591G>C c.948G>C (p.Trp316Cys) | |
| 17 | g.42687851G>T | CA399637979 | CNTNAP1 | c.1176G>T (p.Trp392Cys) n.591G>T c.948G>T (p.Trp316Cys) | |
| 17 | g.42687852G>A | CA399637981 | CNTNAP1 | c.1177G>A (p.Asp393Asn) n.592G>A c.949G>A (p.Asp317Asn) | |
| 17 | g.42687852G>C | CA399637983 | CNTNAP1 | c.1177G>C (p.Asp393His) n.592G>C c.949G>C (p.Asp317His) | gnomAD v4 |
| 17 | g.42687852G= | CA2260598559 | CNTNAP1 | c.1177G= (p.Asp393=) n.592G= c.949G= (p.Asp317=) | |
| 17 | g.42687852G>T | CA399637985 | CNTNAP1 | c.1177G>T (p.Asp393Tyr) n.592G>T c.949G>T (p.Asp317Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42687853A= | CA2260598560 | CNTNAP1 | c.1178A= (p.Asp393=) n.593A= c.950A= (p.Asp317=) | |
| 17 | g.42687853A>C | CA399637990 | CNTNAP1 | c.1178A>C (p.Asp393Ala) n.593A>C c.950A>C (p.Asp317Ala) | dbSNP |
| 17 | g.42687853A>G | CA399637989 | CNTNAP1 | c.1178A>G (p.Asp393Gly) n.593A>G c.950A>G (p.Asp317Gly) | dbSNP |
| 17 | g.42687853A>T | CA399637987 | CNTNAP1 | c.1178A>T (p.Asp393Val) n.593A>T c.950A>T (p.Asp317Val) | |
| 17 | g.42687854C>A | CA399637992 | CNTNAP1 | c.1179C>A (p.Asp393Glu) n.594C>A c.951C>A (p.Asp317Glu) | |
| 17 | g.42687854C>G | CA399637994 | CNTNAP1 | c.1179C>G (p.Asp393Glu) n.594C>G c.951C>G (p.Asp317Glu) | |
| 17 | g.42687854C>T | CA500091298 | CNTNAP1 | c.1179C>T (p.Asp393=) n.594C>T c.951C>T (p.Asp317=) | |
| 17 | g.42687855C>A | CA399637996 | CNTNAP1 | c.1180C>A (p.Leu394Ile) n.595C>A c.952C>A (p.Leu318Ile) | |
| 17 | g.42687855C= | CA2260598561 | CNTNAP1 | c.1180C= (p.Leu394=) n.595C= c.952C= (p.Leu318=) | |
| 17 | g.42687855C>G | CA399637997 | CNTNAP1 | c.1180C>G (p.Leu394Val) n.595C>G c.952C>G (p.Leu318Val) | |
| 17 | g.42687855C>T | CA399637999 | CNTNAP1 | c.1180C>T (p.Leu394Phe) n.595C>T c.952C>T (p.Leu318Phe) | dbSNP gnomAD v4 |
| 17 | g.42687856T>A | CA399638002 | CNTNAP1 | c.1181T>A (p.Leu394His) n.596T>A c.953T>A (p.Leu318His) | |
| 17 | g.42687856T>C | CA399638003 | CNTNAP1 | c.1181T>C (p.Leu394Pro) n.596T>C c.953T>C (p.Leu318Pro) | |
| 17 | g.42687856T>G | CA399638004 | CNTNAP1 | c.1181T>G (p.Leu394Arg) n.596T>G c.953T>G (p.Leu318Arg) | |
| 17 | g.42687856_42687857delinsTC | CA2260598562 | CNTNAP1 | c.1181_1182delinsTC (p.Leu394=) n.596_597delinsTC c.953_954delinsTC (p.Leu318=) | |
| 17 | g.42687857del | CA626069151 | CNTNAP1 | c.1182del (p.Thr395ProfsTer18) n.597del c.954del (p.Thr319ProfsTer18) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42687857C>A | CA500091299 | CNTNAP1 | c.1182C>A (p.Leu394=) n.597C>A c.954C>A (p.Leu318=) | |
| 17 | g.42687857C>G | CA500091300 | CNTNAP1 | c.1182C>G (p.Leu394=) n.597C>G c.954C>G (p.Leu318=) | |
| 17 | g.42687857C>T | CA500091301 | CNTNAP1 | c.1182C>T (p.Leu394=) n.597C>T c.954C>T (p.Leu318=) | gnomAD v4 |
| 17 | g.42687858A>C | CA399638011 | CNTNAP1 | c.1183A>C (p.Thr395Pro) n.598A>C c.955A>C (p.Thr319Pro) | |
| 17 | g.42687858A>G | CA399638007 | CNTNAP1 | c.1183A>G (p.Thr395Ala) n.598A>G c.955A>G (p.Thr319Ala) | |
| 17 | g.42687858A>T | CA399638009 | CNTNAP1 | c.1183A>T (p.Thr395Ser) n.598A>T c.955A>T (p.Thr319Ser) | |
| 17 | g.42687859C>A | CA399638013 | CNTNAP1 | c.1184C>A (p.Thr395Asn) n.599C>A c.956C>A (p.Thr319Asn) | |
| 17 | g.42687859C>G | CA399638015 | CNTNAP1 | c.1184C>G (p.Thr395Ser) n.599C>G c.956C>G (p.Thr319Ser) | |
| 17 | g.42687859C>T | CA399638016 | CNTNAP1 | c.1184C>T (p.Thr395Ile) n.599C>T c.956C>T (p.Thr319Ile) | |
| 17 | g.42687860C>A | CA500091303 | CNTNAP1 | c.1185C>A (p.Thr395=) n.600C>A c.957C>A (p.Thr319=) | |
| 17 | g.42687860C= | CA2260598563 | CNTNAP1 | c.1185C= (p.Thr395=) n.600C= c.957C= (p.Thr319=) | |
| 17 | g.42687860C>G | CA290793085 | CNTNAP1 | c.1185C>G (p.Thr395=) n.600C>G c.957C>G (p.Thr319=) | dbSNP |
| 17 | g.42687860C>T | CA8581727 | CNTNAP1 | c.1185C>T (p.Thr395=) n.600C>T c.957C>T (p.Thr319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687861G>A | CA399638021 | CNTNAP1 | c.1186G>A (p.Gly396Arg) n.601G>A c.958G>A (p.Gly320Arg) | gnomAD v4 |
| 17 | g.42687861G>C | CA399638024 | CNTNAP1 | c.1186G>C (p.Gly396Arg) n.601G>C c.958G>C (p.Gly320Arg) | |
| 17 | g.42687861G>T | CA399638022 | CNTNAP1 | c.1186G>T (p.Gly396Trp) n.601G>T c.958G>T (p.Gly320Trp) | |
| 17 | g.42687862G>A | CA399638025 | CNTNAP1 | c.1187G>A (p.Gly396Glu) n.602G>A c.959G>A (p.Gly320Glu) | gnomAD v4 |
| 17 | g.42687862G>C | CA399638026 | CNTNAP1 | c.1187G>C (p.Gly396Ala) n.602G>C c.959G>C (p.Gly320Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42687862G= | CA2260598564 | CNTNAP1 | c.1187G= (p.Gly396=) n.602G= c.959G= (p.Gly320=) | |
| 17 | g.42687862G>T | CA399638027 | CNTNAP1 | c.1187G>T (p.Gly396Val) n.602G>T c.959G>T (p.Gly320Val) | |
| 17 | g.42687863G>A | CA500091305 | CNTNAP1 | c.1188G>A (p.Gly396=) n.603G>A c.960G>A (p.Gly320=) | |
| 17 | g.42687863G>C | CA500091304 | CNTNAP1 | c.1188G>C (p.Gly396=) n.603G>C c.960G>C (p.Gly320=) | |
| 17 | g.42687863G= | CA2260598565 | CNTNAP1 | c.1188G= (p.Gly396=) n.603G= c.960G= (p.Gly320=) | |
| 17 | g.42687863G>T | CA8581728 | CNTNAP1 | c.1188G>T (p.Gly396=) n.603G>T c.960G>T (p.Gly320=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687864C>A | CA399638029 | CNTNAP1 | c.1189C>A (p.Leu397Ile) n.604C>A c.961C>A (p.Leu321Ile) | |
| 17 | g.42687864C>G | CA399638030 | CNTNAP1 | c.1189C>G (p.Leu397Val) n.604C>G c.961C>G (p.Leu321Val) | |
| 17 | g.42687864C>T | CA399638031 | CNTNAP1 | c.1189C>T (p.Leu397Phe) n.604C>T c.961C>T (p.Leu321Phe) | gnomAD v4 |
| 17 | g.42687866_42687868dup | CA772117330 | CNTNAP1 | c.1191_1193dup (p.Leu398_Leu399insLeu) n.606_608dup c.963_965dup (p.Leu322_Leu323insLeu) | dbSNP gnomAD v4 |
| 17 | g.42687865T>A | CA399638033 | CNTNAP1 | c.1190T>A (p.Leu397His) n.605T>A c.962T>A (p.Leu321His) | |
| 17 | g.42687865T>C | CA399638034 | CNTNAP1 | c.1190T>C (p.Leu397Pro) n.605T>C c.962T>C (p.Leu321Pro) | |
| 17 | g.42687865T>G | CA399638036 | CNTNAP1 | c.1190T>G (p.Leu397Arg) n.605T>G c.962T>G (p.Leu321Arg) | |
| 17 | g.42687866T>A | CA500091308 | CNTNAP1 | c.1191T>A (p.Leu397=) n.606T>A c.963T>A (p.Leu321=) | |
| 17 | g.42687866T>C | CA500091307 | CNTNAP1 | c.1191T>C (p.Leu397=) n.606T>C c.963T>C (p.Leu321=) | dbSNP gnomAD v4 |
| 17 | g.42687866T>G | CA500091309 | CNTNAP1 | c.1191T>G (p.Leu397=) n.606T>G c.963T>G (p.Leu321=) | |
| 17 | g.42687866T= | CA2260598566 | CNTNAP1 | c.1191T= (p.Leu397=) n.606T= c.963T= (p.Leu321=) | |
| 17 | g.42687867C>A | CA399638041 | CNTNAP1 | c.1192C>A (p.Leu398Ile) n.607C>A c.964C>A (p.Leu322Ile) | |
| 17 | g.42687867C= | CA2260598567 | CNTNAP1 | c.1192C= (p.Leu398=) n.607C= c.964C= (p.Leu322=) | |
| 17 | g.42687867C>G | CA399638039 | CNTNAP1 | c.1192C>G (p.Leu398Val) n.607C>G c.964C>G (p.Leu322Val) | dbSNP COSMIC |
| 17 | g.42687867C>T | CA399638038 | CNTNAP1 | c.1192C>T (p.Leu398Phe) n.607C>T c.964C>T (p.Leu322Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42687869_42687871del | CA2637974412 | CNTNAP1 | c.1194_1196del (p.Leu399del) n.609_611del c.966_968del (p.Leu323del) | gnomAD v4 |
| 17 | g.42687868T>A | CA399638046 | CNTNAP1 | c.1193T>A (p.Leu398His) n.608T>A c.965T>A (p.Leu322His) | |
| 17 | g.42687868T>C | CA399638047 | CNTNAP1 | c.1193T>C (p.Leu398Pro) n.608T>C c.965T>C (p.Leu322Pro) | |
| 17 | g.42687868T>G | CA399638049 | CNTNAP1 | c.1193T>G (p.Leu398Arg) n.608T>G c.965T>G (p.Leu322Arg) | |
| 17 | g.42687869C>A | CA500091310 | CNTNAP1 | c.1194C>A (p.Leu398=) n.609C>A c.966C>A (p.Leu322=) | |
| 17 | g.42687869C= | CA2260598568 | CNTNAP1 | c.1194C= (p.Leu398=) n.609C= c.966C= (p.Leu322=) | |
| 17 | g.42687869C>G | CA500091312 | CNTNAP1 | c.1194C>G (p.Leu398=) n.609C>G c.966C>G (p.Leu322=) | |
| 17 | g.42687869C>T | CA500091311 | CNTNAP1 | c.1194C>T (p.Leu398=) n.609C>T c.966C>T (p.Leu322=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42687870C>A | CA399638050 | CNTNAP1 | c.1195C>A (p.Leu399Ile) n.610C>A c.967C>A (p.Leu323Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42687870C= | CA2260598569 | CNTNAP1 | c.1195C= (p.Leu399=) n.610C= c.967C= (p.Leu323=) | |
| 17 | g.42687870C>G | CA399638052 | CNTNAP1 | c.1195C>G (p.Leu399Val) n.610C>G c.967C>G (p.Leu323Val) | gnomAD v4 COSMIC |
| 17 | g.42687870C>T | CA399638053 | CNTNAP1 | c.1195C>T (p.Leu399Phe) n.610C>T c.967C>T (p.Leu323Phe) | |
| 17 | g.42687871T>A | CA399638055 | CNTNAP1 | c.1196T>A (p.Leu399His) n.611T>A c.968T>A (p.Leu323His) | |
| 17 | g.42687871T>C | CA399638056 | CNTNAP1 | c.1196T>C (p.Leu399Pro) n.611T>C c.968T>C (p.Leu323Pro) | |
| 17 | g.42687871T>G | CA399638057 | CNTNAP1 | c.1196T>G (p.Leu399Arg) n.611T>G c.968T>G (p.Leu323Arg) | |
| 17 | g.42687872T>A | CA500091315 | CNTNAP1 | c.1197T>A (p.Leu399=) n.612T>A c.969T>A (p.Leu323=) | |
| 17 | g.42687872T>C | CA500091314 | CNTNAP1 | c.1197T>C (p.Leu399=) n.612T>C c.969T>C (p.Leu323=) | |
| 17 | g.42687872T>G | CA500091316 | CNTNAP1 | c.1197T>G (p.Leu399=) n.612T>G c.969T>G (p.Leu323=) | |
| 17 | g.42687873T>A | CA399638060 | CNTNAP1 | c.1198T>A (p.Phe400Ile) n.613T>A c.970T>A (p.Phe324Ile) | dbSNP |
| 17 | g.42687873T>C | CA399638061 | CNTNAP1 | c.1198T>C (p.Phe400Leu) n.613T>C c.970T>C (p.Phe324Leu) | |
| 17 | g.42687873T>G | CA399638062 | CNTNAP1 | c.1198T>G (p.Phe400Val) n.613T>G c.970T>G (p.Phe324Val) | |
| 17 | g.42687873T= | CA2260598570 | CNTNAP1 | c.1198T= (p.Phe400=) n.613T= c.970T= (p.Phe324=) | |
| 17 | g.42687874T>A | CA399638064 | CNTNAP1 | c.1199T>A (p.Phe400Tyr) n.614T>A c.971T>A (p.Phe324Tyr) | |
| 17 | g.42687874T>C | CA399638066 | CNTNAP1 | c.1199T>C (p.Phe400Ser) n.614T>C c.971T>C (p.Phe324Ser) | |
| 17 | g.42687874T>G | CA399638063 | CNTNAP1 | c.1199T>G (p.Phe400Cys) n.614T>G c.971T>G (p.Phe324Cys) | |
| 17 | g.42687875C>A | CA399638068 | CNTNAP1 | c.1200C>A (p.Phe400Leu) n.615C>A c.972C>A (p.Phe324Leu) | |
| 17 | g.42687875C>G | CA399638069 | CNTNAP1 | c.1200C>G (p.Phe400Leu) n.615C>G c.972C>G (p.Phe324Leu) | |
| 17 | g.42687875C>T | CA500091318 | CNTNAP1 | c.1200C>T (p.Phe400=) n.615C>T c.972C>T (p.Phe324=) | |
| 17 | g.42687876T>A | CA290793086 | CNTNAP1 | c.1201T>A (p.Ser401Thr) n.616T>A c.973T>A (p.Ser325Thr) | dbSNP |
| 17 | g.42687876T>C | CA399638072 | CNTNAP1 | c.1201T>C (p.Ser401Pro) n.616T>C c.973T>C (p.Ser325Pro) | |
| 17 | g.42687876T>G | CA399638073 | CNTNAP1 | c.1201T>G (p.Ser401Ala) n.616T>G c.973T>G (p.Ser325Ala) | |
| 17 | g.42687876T= | CA2260598571 | CNTNAP1 | c.1201T= (p.Ser401=) n.616T= c.973T= (p.Ser325=) | |
| 17 | g.42687877C>A | CA399638077 | CNTNAP1 | c.1202C>A (p.Ser401Tyr) n.617C>A c.974C>A (p.Ser325Tyr) | |
| 17 | g.42687877C>G | CA399638075 | CNTNAP1 | c.1202C>G (p.Ser401Cys) n.617C>G c.974C>G (p.Ser325Cys) | |
| 17 | g.42687877C>T | CA399638076 | CNTNAP1 | c.1202C>T (p.Ser401Phe) n.617C>T c.974C>T (p.Ser325Phe) | |
| 17 | g.42687878C>A | CA500091322 | CNTNAP1 | c.1203C>A (p.Ser401=) n.618C>A c.975C>A (p.Ser325=) | gnomAD v4 |
| 17 | g.42687878C= | CA2260598572 | CNTNAP1 | c.1203C= (p.Ser401=) n.618C= c.975C= (p.Ser325=) | |
| 17 | g.42687878C>G | CA500091321 | CNTNAP1 | c.1203C>G (p.Ser401=) n.618C>G c.975C>G (p.Ser325=) | dbSNP |
| 17 | g.42687878C>T | CA290793090 | CNTNAP1 | c.1203C>T (p.Ser401=) n.618C>T c.975C>T (p.Ser325=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42687879C>A | CA399638079 | CNTNAP1 | c.1204C>A (p.Arg402Ser) n.619C>A c.976C>A (p.Arg326Ser) | gnomAD v4 |
| 17 | g.42687879C= | CA2260598573 | CNTNAP1 | c.1204C= (p.Arg402=) n.619C= c.976C= (p.Arg326=) | |
| 17 | g.42687879C>G | CA8581729 | CNTNAP1 | c.1204C>G (p.Arg402Gly) n.619C>G c.976C>G (p.Arg326Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687879C>T | CA399638081 | CNTNAP1 | c.1204C>T (p.Arg402Cys) n.619C>T c.976C>T (p.Arg326Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42687880G>A | CA399638083 | CNTNAP1 | c.1205G>A (p.Arg402His) n.620G>A c.977G>A (p.Arg326His) | COSMIC |
| 17 | g.42687880G>C | CA399638084 | CNTNAP1 | c.1205G>C (p.Arg402Pro) n.620G>C c.977G>C (p.Arg326Pro) | |
| 17 | g.42687880G= | CA2260598574 | CNTNAP1 | c.1205G= (p.Arg402=) n.620G= c.977G= (p.Arg326=) | |
| 17 | g.42687880G>T | CA399638086 | CNTNAP1 | c.1205G>T (p.Arg402Leu) n.620G>T c.977G>T (p.Arg326Leu) | dbSNP gnomAD v2 |
| 17 | g.42687881T>A | CA500091324 | CNTNAP1 | c.1206T>A (p.Arg402=) n.621T>A c.978T>A (p.Arg326=) | |
| 17 | g.42687881T>C | CA500091326 | CNTNAP1 | c.1206T>C (p.Arg402=) n.621T>C c.978T>C (p.Arg326=) | gnomAD v4 |
| 17 | g.42687881T>G | CA500091325 | CNTNAP1 | c.1206T>G (p.Arg402=) n.621T>G c.978T>G (p.Arg326=) | |
| 17 | g.42687882C>A | CA399638089 | CNTNAP1 | c.1207C>A (p.Leu403Met) n.622C>A c.979C>A (p.Leu327Met) | |
| 17 | g.42687882C= | CA2260598575 | CNTNAP1 | c.1207C= (p.Leu403=) n.622C= c.979C= (p.Leu327=) | |
| 17 | g.42687882C>G | CA399638087 | CNTNAP1 | c.1207C>G (p.Leu403Val) n.622C>G c.979C>G (p.Leu327Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42687882C>T | CA500091327 | CNTNAP1 | c.1207C>T (p.Leu403=) n.622C>T c.979C>T (p.Leu327=) | |
| 17 | g.42687883T>A | CA399638090 | CNTNAP1 | c.1208T>A (p.Leu403Gln) n.623T>A c.980T>A (p.Leu327Gln) | |
| 17 | g.42687883T>C | CA399638092 | CNTNAP1 | c.1208T>C (p.Leu403Pro) n.623T>C c.980T>C (p.Leu327Pro) | |
| 17 | g.42687883T>G | CA399638091 | CNTNAP1 | c.1208T>G (p.Leu403Arg) n.623T>G c.980T>G (p.Leu327Arg) | |
| 17 | g.42687884G>A | CA500091329 | CNTNAP1 | c.1209G>A (p.Leu403=) n.624G>A c.981G>A (p.Leu327=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42687884G>C | CA500091331 | CNTNAP1 | c.1209G>C (p.Leu403=) n.624G>C c.981G>C (p.Leu327=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42687884G= | CA2260598576 | CNTNAP1 | c.1209G= (p.Leu403=) n.624G= c.981G= (p.Leu327=) | |
| 17 | g.42687884G>T | CA500091328 | CNTNAP1 | c.1209G>T (p.Leu403=) n.624G>T c.981G>T (p.Leu327=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687888del | CA2637974413 | CNTNAP1 | c.1213del (p.Asp405ThrfsTer8) n.628del c.985del (p.Asp329ThrfsTer8) | gnomAD v4 |
| 17 | g.42687885G>A | CA399638093 | CNTNAP1 | c.1210G>A (p.Gly404Arg) n.625G>A c.982G>A (p.Gly328Arg) | |
| 17 | g.42687885G>C | CA399638097 | CNTNAP1 | c.1210G>C (p.Gly404Arg) n.625G>C c.982G>C (p.Gly328Arg) | |
| 17 | g.42687885G>T | CA399638095 | CNTNAP1 | c.1210G>T (p.Gly404Trp) n.625G>T c.982G>T (p.Gly328Trp) | |
| 17 | g.42687886G>A | CA399638098 | CNTNAP1 | c.1211G>A (p.Gly404Glu) n.626G>A c.983G>A (p.Gly328Glu) | |
| 17 | g.42687886G>C | CA399638101 | CNTNAP1 | c.1211G>C (p.Gly404Ala) n.626G>C c.983G>C (p.Gly328Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687886G= | CA2260598577 | CNTNAP1 | c.1211G= (p.Gly404=) n.626G= c.983G= (p.Gly328=) | |
| 17 | g.42687886G>T | CA399638100 | CNTNAP1 | c.1211G>T (p.Gly404Val) n.626G>T c.983G>T (p.Gly328Val) | |
| 17 | g.42687887G>A | CA500091335 | CNTNAP1 | c.1212G>A (p.Gly404=) n.627G>A c.984G>A (p.Gly328=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687887G>C | CA500091334 | CNTNAP1 | c.1212G>C (p.Gly404=) n.627G>C c.984G>C (p.Gly328=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42687887G= | CA2260598578 | CNTNAP1 | c.1212G= (p.Gly404=) n.627G= c.984G= (p.Gly328=) | |
| 17 | g.42687887G>T | CA500091333 | CNTNAP1 | c.1212G>T (p.Gly404=) n.627G>T c.984G>T (p.Gly328=) | |
| 17 | g.42687888G>A | CA399638103 | CNTNAP1 | c.1213G>A (p.Asp405Asn) n.628G>A c.985G>A (p.Asp329Asn) | |
| 17 | g.42687888G>C | CA399638105 | CNTNAP1 | c.1213G>C (p.Asp405His) n.628G>C c.985G>C (p.Asp329His) | |
| 17 | g.42687888G>T | CA399638107 | CNTNAP1 | c.1213G>T (p.Asp405Tyr) n.628G>T c.985G>T (p.Asp329Tyr) | |
| 17 | g.42687889A= | CA2260598579 | CNTNAP1 | c.1214A= (p.Asp405=) n.629A= c.986A= (p.Asp329=) | |
| 17 | g.42687889A>C | CA399638109 | CNTNAP1 | c.1214A>C (p.Asp405Ala) n.629A>C c.986A>C (p.Asp329Ala) | |
| 17 | g.42687889A>G | CA399638110 | CNTNAP1 | c.1214A>G (p.Asp405Gly) n.629A>G c.986A>G (p.Asp329Gly) | dbSNP |
| 17 | g.42687889A>T | CA399638112 | CNTNAP1 | c.1214A>T (p.Asp405Val) n.629A>T c.986A>T (p.Asp329Val) | dbSNP |
| 17 | g.42687890C>A | CA399638113 | CNTNAP1 | c.1215C>A (p.Asp405Glu) n.630C>A c.987C>A (p.Asp329Glu) | |
| 17 | g.42687890C= | CA2260598581 | CNTNAP1 | c.1215C= (p.Asp405=) n.630C= c.987C= (p.Asp329=) | |
| 17 | g.42687890C>G | CA290793096 | CNTNAP1 | c.1215C>G (p.Asp405Glu) n.630C>G c.987C>G (p.Asp329Glu) | dbSNP gnomAD v4 |
| 17 | g.42687890C>T | CA500091337 | CNTNAP1 | c.1215C>T (p.Asp405=) n.630C>T c.987C>T (p.Asp329=) | dbSNP COSMIC |
| 17 | g.42687890_42687891delinsCG | CA2260598580 | CNTNAP1 | c.1215_1216delinsCG (p.Asp405=) n.630_631delinsCG c.987_988delinsCG (p.Asp329=) | |
| 17 | g.42687891G>A | CA399638116 | CNTNAP1 | c.1216G>A (p.Gly406Arg) n.631G>A c.988G>A (p.Gly330Arg) | dbSNP gnomAD v4 |
| 17 | g.42687891G>C | CA399638118 | CNTNAP1 | c.1216G>C (p.Gly406Arg) n.631G>C c.988G>C (p.Gly330Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42687891G= | CA2260598582 | CNTNAP1 | c.1216G= (p.Gly406=) n.631G= c.988G= (p.Gly330=) | |
| 17 | g.42687891G>T | CA399638119 | CNTNAP1 | c.1216G>T (p.Gly406Trp) n.631G>T c.988G>T (p.Gly330Trp) | |
| 17 | g.42687893del | CA8581730 | CNTNAP1 | c.1218del (p.Leu407TrpfsTer6) n.633del c.990del (p.Leu331TrpfsTer6) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.42687892G>A | CA399638121 | CNTNAP1 | c.1217G>A (p.Gly406Glu) n.632G>A c.989G>A (p.Gly330Glu) | |
| 17 | g.42687892G>C | CA399638125 | CNTNAP1 | c.1217G>C (p.Gly406Ala) n.632G>C c.989G>C (p.Gly330Ala) | |
| 17 | g.42687892G>T | CA399638123 | CNTNAP1 | c.1217G>T (p.Gly406Val) n.632G>T c.989G>T (p.Gly330Val) | |
| 17 | g.42687893G>A | CA500091338 | CNTNAP1 | c.1218G>A (p.Gly406=) n.633G>A c.990G>A (p.Gly330=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42687893G>C | CA500091340 | CNTNAP1 | c.1218G>C (p.Gly406=) n.633G>C c.990G>C (p.Gly330=) | |
| 17 | g.42687893G= | CA2260598583 | CNTNAP1 | c.1218G= (p.Gly406=) n.633G= c.990G= (p.Gly330=) | |
| 17 | g.42687893G>T | CA500091339 | CNTNAP1 | c.1218G>T (p.Gly406=) n.633G>T c.990G>T (p.Gly330=) | |
| 17 | g.42687894C>A | CA399638127 | CNTNAP1 | c.1219C>A (p.Leu407Met) n.634C>A c.991C>A (p.Leu331Met) | |
| 17 | g.42687894C>G | CA399638128 | CNTNAP1 | c.1219C>G (p.Leu407Val) n.634C>G c.991C>G (p.Leu331Val) | |
| 17 | g.42687894C>T | CA500091342 | CNTNAP1 | c.1219C>T (p.Leu407=) n.634C>T c.991C>T (p.Leu331=) | gnomAD v4 |
| 17 | g.42687895T>A | CA399638129 | CNTNAP1 | c.1220T>A (p.Leu407Gln) n.635T>A c.992T>A (p.Leu331Gln) | |
| 17 | g.42687895T>C | CA399638130 | CNTNAP1 | c.1220T>C (p.Leu407Pro) n.635T>C c.992T>C (p.Leu331Pro) | |
| 17 | g.42687895T>G | CA399638131 | CNTNAP1 | c.1220T>G (p.Leu407Arg) n.635T>G c.992T>G (p.Leu331Arg) | |
| 17 | g.42687896G>A | CA8581731 | CNTNAP1 | c.1221G>A (p.Leu407=) n.636G>A c.993G>A (p.Leu331=) | dbSNP ExAC |
| 17 | g.42687896G>C | CA500091344 | CNTNAP1 | c.1221G>C (p.Leu407=) n.636G>C c.993G>C (p.Leu331=) | |
| 17 | g.42687896G= | CA2260598584 | CNTNAP1 | c.1221G= (p.Leu407=) n.636G= c.993G= (p.Leu331=) | |
| 17 | g.42687896G>T | CA500091343 | CNTNAP1 | c.1221G>T (p.Leu407=) n.636G>T c.993G>T (p.Leu331=) | |
| 17 | g.42687897G>A | CA399638132 | CNTNAP1 | c.1222G>A (p.Gly408Ser) n.637G>A c.994G>A (p.Gly332Ser) | |
| 17 | g.42687897G>C | CA399638133 | CNTNAP1 | c.1222G>C (p.Gly408Arg) n.637G>C c.994G>C (p.Gly332Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42687897G= | CA2260598585 | CNTNAP1 | c.1222G= (p.Gly408=) n.637G= c.994G= (p.Gly332=) | |
| 17 | g.42687897G>T | CA399638134 | CNTNAP1 | c.1222G>T (p.Gly408Cys) n.637G>T c.994G>T (p.Gly332Cys) | |
| 17 | g.42687898G>A | CA399638137 | CNTNAP1 | c.1223G>A (p.Gly408Asp) n.638G>A c.995G>A (p.Gly332Asp) | gnomAD v4 |
| 17 | g.42687898G>C | CA399638138 | CNTNAP1 | c.1223G>C (p.Gly408Ala) n.638G>C c.995G>C (p.Gly332Ala) | |
| 17 | g.42687898G>T | CA399638135 | CNTNAP1 | c.1223G>T (p.Gly408Val) n.638G>T c.995G>T (p.Gly332Val) | |
| 17 | g.42687899C>A | CA500091348 | CNTNAP1 | c.1224C>A (p.Gly408=) n.639C>A c.996C>A (p.Gly332=) | |
| 17 | g.42687899C>G | CA500091346 | CNTNAP1 | c.1224C>G (p.Gly408=) n.639C>G c.996C>G (p.Gly332=) | |
| 17 | g.42687899C>T | CA500091349 | CNTNAP1 | c.1224C>T (p.Gly408=) n.639C>T c.996C>T (p.Gly332=) | |
| 17 | g.42687900C>A | CA399638140 | CNTNAP1 | c.1225C>A (p.His409Asn) n.640C>A c.997C>A (p.His333Asn) | |
| 17 | g.42687900C>G | CA399638142 | CNTNAP1 | c.1225C>G (p.His409Asp) n.640C>G c.997C>G (p.His333Asp) | |
| 17 | g.42687900C>T | CA399638143 | CNTNAP1 | c.1225C>T (p.His409Tyr) n.640C>T c.997C>T (p.His333Tyr) | |
| 17 | g.42687901A>C | CA399638145 | CNTNAP1 | c.1226A>C (p.His409Pro) n.641A>C c.998A>C (p.His333Pro) | |
| 17 | g.42687901A>G | CA399638146 | CNTNAP1 | c.1226A>G (p.His409Arg) n.641A>G c.998A>G (p.His333Arg) | |
| 17 | g.42687901A>T | CA399638148 | CNTNAP1 | c.1226A>T (p.His409Leu) n.641A>T c.998A>T (p.His333Leu) | |
| 17 | g.42687902C>A | CA399638149 | CNTNAP1 | c.1227C>A (p.His409Gln) n.642C>A c.999C>A (p.His333Gln) | |
| 17 | g.42687902C>G | CA399638152 | CNTNAP1 | c.1227C>G (p.His409Gln) n.642C>G c.999C>G (p.His333Gln) | |
| 17 | g.42687902C>T | CA500091350 | CNTNAP1 | c.1227C>T (p.His409=) n.642C>T c.999C>T (p.His333=) | |
| 17 | g.42687902_42687903del | CA2576278112 | CNTNAP1 | c.1227_1228del (p.Val410GlyfsTer?) n.642_643del c.999_1000del (p.Val334GlyfsTer?) | |
| 17 | g.42687903G>A | CA8581732 | CNTNAP1 | c.1228G>A (p.Val410Met) n.643G>A c.1000G>A (p.Val334Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.42687903G>C | CA399638154 | CNTNAP1 | c.1228G>C (p.Val410Leu) n.643G>C c.1000G>C (p.Val334Leu) | |
| 17 | g.42687903G= | CA2260598586 | CNTNAP1 | c.1228G= (p.Val410=) n.643G= c.1000G= (p.Val334=) | |
| 17 | g.42687903G>T | CA399638156 | CNTNAP1 | c.1228G>T (p.Val410Leu) n.643G>T c.1000G>T (p.Val334Leu) | gnomAD v4 |
| 17 | g.42687904T>A | CA399638162 | CNTNAP1 | c.1229T>A (p.Val410Glu) n.644T>A c.1001T>A (p.Val334Glu) | |
| 17 | g.42687904T>C | CA399638163 | CNTNAP1 | c.1229T>C (p.Val410Ala) n.644T>C c.1001T>C (p.Val334Ala) | |
| 17 | g.42687904T>G | CA399638160 | CNTNAP1 | c.1229T>G (p.Val410Gly) n.644T>G c.1001T>G (p.Val334Gly) | |
| 17 | g.42687905G>A | CA500091353 | CNTNAP1 | c.1230G>A (p.Val410=) n.645G>A c.1002G>A (p.Val334=) | gnomAD v4 |
| 17 | g.42687905G>C | CA500091352 | CNTNAP1 | c.1230G>C (p.Val410=) n.645G>C c.1002G>C (p.Val334=) | |
| 17 | g.42687905G>T | CA500091351 | CNTNAP1 | c.1230G>T (p.Val410=) n.645G>T c.1002G>T (p.Val334=) |