Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42682830_42689520del | CA915950015 | CNTNAP1 | c.1_1629-1del c.-1020_1401-1del | ClinVar |
17 | g.42687888del | CA2637974413 | CNTNAP1 | c.1213del (p.Asp405ThrfsTer8) n.628del c.985del (p.Asp329ThrfsTer8) | gnomAD v4 |
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=) | |
17 | g.42687906G>A | CA399638164 | CNTNAP1 | c.1231G>A (p.Glu411Lys) n.646G>A c.1003G>A (p.Glu335Lys) | gnomAD v4 |
17 | g.42687906G>C | CA399638166 | CNTNAP1 | c.1231G>C (p.Glu411Gln) n.646G>C c.1003G>C (p.Glu335Gln) | |
17 | g.42687906G>T | CA399638167 | CNTNAP1 | c.1231G>T (p.Glu411Ter) n.646G>T c.1003G>T (p.Glu335Ter) | |
17 | g.42687907A>C | CA399638169 | CNTNAP1 | c.1232A>C (p.Glu411Ala) n.647A>C c.1004A>C (p.Glu335Ala) | |
17 | g.42687907A>G | CA399638170 | CNTNAP1 | c.1232A>G (p.Glu411Gly) n.647A>G c.1004A>G (p.Glu335Gly) | |
17 | g.42687907A>T | CA399638172 | CNTNAP1 | c.1232A>T (p.Glu411Val) n.647A>T c.1004A>T (p.Glu335Val) | |
17 | g.42687908G>A | CA500091354 | CNTNAP1 | c.1233G>A (p.Glu411=) n.648G>A c.1005G>A (p.Glu335=) | gnomAD v4 |
17 | g.42687908G>C | CA399638173 | CNTNAP1 | c.1233G>C (p.Glu411Asp) n.648G>C c.1005G>C (p.Glu335Asp) | |
17 | g.42687908G>T | CA399638175 | CNTNAP1 | c.1233G>T (p.Glu411Asp) n.648G>T c.1005G>T (p.Glu335Asp) | gnomAD v4 |
17 | g.42687909C>A | CA399638177 | CNTNAP1 | c.1234C>A (p.Leu412Met) n.649C>A c.1006C>A (p.Leu336Met) | |
17 | g.42687909C>G | CA399638179 | CNTNAP1 | c.1234C>G (p.Leu412Val) n.649C>G c.1006C>G (p.Leu336Val) | |
17 | g.42687909C>T | CA500091356 | CNTNAP1 | c.1234C>T (p.Leu412=) n.649C>T c.1006C>T (p.Leu336=) | |
17 | g.42687910T>A | CA399638182 | CNTNAP1 | c.1235T>A (p.Leu412Gln) n.650T>A c.1007T>A (p.Leu336Gln) | |
17 | g.42687910T>C | CA399638185 | CNTNAP1 | c.1235T>C (p.Leu412Pro) n.650T>C c.1007T>C (p.Leu336Pro) | |
17 | g.42687910T>G | CA399638186 | CNTNAP1 | c.1235T>G (p.Leu412Arg) n.650T>G c.1007T>G (p.Leu336Arg) | |
17 | g.42687911G>A | CA500091357 | CNTNAP1 | c.1236G>A (p.Leu412=) n.651G>A c.1008G>A (p.Leu336=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687911G>C | CA500091358 | CNTNAP1 | c.1236G>C (p.Leu412=) n.651G>C c.1008G>C (p.Leu336=) | |
17 | g.42687911G= | CA2260598587 | CNTNAP1 | c.1236G= (p.Leu412=) n.651G= c.1008G= (p.Leu336=) | |
17 | g.42687911G>T | CA500091359 | CNTNAP1 | c.1236G>T (p.Leu412=) n.651G>T c.1008G>T (p.Leu336=) | gnomAD v4 |
17 | g.42687912A= | CA2260598588 | CNTNAP1 | c.1237A= (p.Thr413=) n.652A= c.1009A= (p.Thr337=) | |
17 | g.42687912A>C | CA399638197 | CNTNAP1 | c.1237A>C (p.Thr413Pro) n.652A>C c.1009A>C (p.Thr337Pro) | |
17 | g.42687912A>G | CA399638193 | CNTNAP1 | c.1237A>G (p.Thr413Ala) n.652A>G c.1009A>G (p.Thr337Ala) | dbSNP |
17 | g.42687912A>T | CA399638190 | CNTNAP1 | c.1237A>T (p.Thr413Ser) n.652A>T c.1009A>T (p.Thr337Ser) | |
17 | g.42687913C>A | CA399638200 | CNTNAP1 | c.1238C>A (p.Thr413Lys) n.653C>A c.1010C>A (p.Thr337Lys) | |
17 | g.42687913C= | CA2260598589 | CNTNAP1 | c.1238C= (p.Thr413=) n.653C= c.1010C= (p.Thr337=) | |
17 | g.42687913C>G | CA399638211 | CNTNAP1 | c.1238C>G (p.Thr413Arg) n.653C>G c.1010C>G (p.Thr337Arg) | |
17 | g.42687913C>T | CA399638210 | CNTNAP1 | c.1238C>T (p.Thr413Met) n.653C>T c.1010C>T (p.Thr337Met) | |
17 | g.42687914G>A | CA500091364 | CNTNAP1 | c.1239G>A (p.Thr413=) n.654G>A c.1011G>A (p.Thr337=) | dbSNP COSMIC |
17 | g.42687914G>C | CA500091362 | CNTNAP1 | c.1239G>C (p.Thr413=) n.654G>C c.1011G>C (p.Thr337=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42687914G= | CA2260598590 | CNTNAP1 | c.1239G= (p.Thr413=) n.654G= c.1011G= (p.Thr337=) | |
17 | g.42687914G>T | CA500091365 | CNTNAP1 | c.1239G>T (p.Thr413=) n.654G>T c.1011G>T (p.Thr337=) | |
17 | g.42687914dup | CA8581733 | CNTNAP1 | c.1239dup (p.Leu414AlafsTer28) n.654dup c.1011dup (p.Leu338AlafsTer28) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687915C>A | CA8581734 | CNTNAP1 | c.1240C>A (p.Leu414Ile) n.655C>A c.1012C>A (p.Leu338Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687915C= | CA2260598591 | CNTNAP1 | c.1240C= (p.Leu414=) n.655C= c.1012C= (p.Leu338=) | |
17 | g.42687915C>G | CA399638222 | CNTNAP1 | c.1240C>G (p.Leu414Val) n.655C>G c.1012C>G (p.Leu338Val) | |
17 | g.42687915C>T | CA399638226 | CNTNAP1 | c.1240C>T (p.Leu414Phe) n.655C>T c.1012C>T (p.Leu338Phe) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42687916T>A | CA399638227 | CNTNAP1 | c.1241T>A (p.Leu414His) n.656T>A c.1013T>A (p.Leu338His) | |
17 | g.42687916T>C | CA399638231 | CNTNAP1 | c.1241T>C (p.Leu414Pro) n.656T>C c.1013T>C (p.Leu338Pro) | |
17 | g.42687916T>G | CA399638232 | CNTNAP1 | c.1241T>G (p.Leu414Arg) n.656T>G c.1013T>G (p.Leu338Arg) | |
17 | g.42687917C>A | CA500091367 | CNTNAP1 | c.1242C>A (p.Leu414=) n.657C>A c.1014C>A (p.Leu338=) | |
17 | g.42687917C>G | CA500091368 | CNTNAP1 | c.1242C>G (p.Leu414=) n.657C>G c.1014C>G (p.Leu338=) | |
17 | g.42687917C>T | CA500091366 | CNTNAP1 | c.1242C>T (p.Leu414=) n.657C>T c.1014C>T (p.Leu338=) | |
17 | g.42687918A>C | CA399638233 | CNTNAP1 | c.1243A>C (p.Ser415Arg) n.658A>C c.1015A>C (p.Ser339Arg) | |
17 | g.42687918A>G | CA399638234 | CNTNAP1 | c.1243A>G (p.Ser415Gly) n.658A>G c.1015A>G (p.Ser339Gly) | |
17 | g.42687918A>T | CA399638235 | CNTNAP1 | c.1243A>T (p.Ser415Cys) n.658A>T c.1015A>T (p.Ser339Cys) | |
17 | g.42687919G>A | CA399638236 | CNTNAP1 | c.1244G>A (p.Ser415Asn) n.659G>A c.1016G>A (p.Ser339Asn) | |
17 | g.42687919G>C | CA399638238 | CNTNAP1 | c.1244G>C (p.Ser415Thr) n.659G>C c.1016G>C (p.Ser339Thr) | gnomAD v4 |
17 | g.42687919G>T | CA399638241 | CNTNAP1 | c.1244G>T (p.Ser415Ile) n.659G>T c.1016G>T (p.Ser339Ile) | |
17 | g.42687920C>A | CA399638243 | CNTNAP1 | c.1245C>A (p.Ser415Arg) n.660C>A c.1017C>A (p.Ser339Arg) | |
17 | g.42687920C>G | CA399638245 | CNTNAP1 | c.1245C>G (p.Ser415Arg) n.660C>G c.1017C>G (p.Ser339Arg) | |
17 | g.42687920C>T | CA500091371 | CNTNAP1 | c.1245C>T (p.Ser415=) n.660C>T c.1017C>T (p.Ser339=) | dbSNP |
17 | g.42687921G>A | CA290793125 | CNTNAP1 | c.1246G>A (p.Glu416Lys) n.661G>A c.1018G>A (p.Glu340Lys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42687921G>C | CA399638250 | CNTNAP1 | c.1246G>C (p.Glu416Gln) n.661G>C c.1018G>C (p.Glu340Gln) | gnomAD v4 |
17 | g.42687921G= | CA2260598592 | CNTNAP1 | c.1246G= (p.Glu416=) n.661G= c.1018G= (p.Glu340=) | |
17 | g.42687921G>T | CA399638251 | CNTNAP1 | c.1246G>T (p.Glu416Ter) n.661G>T c.1018G>T (p.Glu340Ter) | |
17 | g.42687922A>C | CA399638253 | CNTNAP1 | c.1247A>C (p.Glu416Ala) n.662A>C c.1019A>C (p.Glu340Ala) | |
17 | g.42687922A>G | CA399638254 | CNTNAP1 | c.1247A>G (p.Glu416Gly) n.662A>G c.1019A>G (p.Glu340Gly) | |
17 | g.42687922A>T | CA399638256 | CNTNAP1 | c.1247A>T (p.Glu416Val) n.662A>T c.1019A>T (p.Glu340Val) | |
17 | g.42687923A= | CA2260598593 | CNTNAP1 | c.1248A= (p.Glu416=) n.663A= c.1020A= (p.Glu340=) | |
17 | g.42687923A>C | CA399638258 | CNTNAP1 | c.1248A>C (p.Glu416Asp) n.663A>C c.1020A>C (p.Glu340Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42687923A>G | CA500091372 | CNTNAP1 | c.1248A>G (p.Glu416=) n.663A>G c.1020A>G (p.Glu340=) | |
17 | g.42687923A>T | CA399638261 | CNTNAP1 | c.1248A>T (p.Glu416Asp) n.663A>T c.1020A>T (p.Glu340Asp) | |
17 | g.42687924G>A | CA399638262 | CNTNAP1 | c.1249G>A (p.Gly417Arg) n.664G>A c.1021G>A (p.Gly341Arg) | gnomAD v4 |
17 | g.42687924G>C | CA399638264 | CNTNAP1 | c.1249G>C (p.Gly417Arg) n.664G>C c.1021G>C (p.Gly341Arg) | |
17 | g.42687924G>T | CA399638266 | CNTNAP1 | c.1249G>T (p.Gly417Trp) n.664G>T c.1021G>T (p.Gly341Trp) | |
17 | g.42687925G>A | CA399638272 | CNTNAP1 | c.1250G>A (p.Gly417Glu) n.665G>A c.1022G>A (p.Gly341Glu) | |
17 | g.42687925G>C | CA399638270 | CNTNAP1 | c.1250G>C (p.Gly417Ala) n.665G>C c.1022G>C (p.Gly341Ala) | |
17 | g.42687925G>T | CA399638267 | CNTNAP1 | c.1250G>T (p.Gly417Val) n.665G>T c.1022G>T (p.Gly341Val) | |
17 | g.42687926G>A | CA8581735 | CNTNAP1 | c.1251G>A (p.Gly417=) n.666G>A c.1023G>A (p.Gly341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687926G>C | CA500091374 | CNTNAP1 | c.1251G>C (p.Gly417=) n.666G>C c.1023G>C (p.Gly341=) | |
17 | g.42687926G= | CA2260598594 | CNTNAP1 | c.1251G= (p.Gly417=) n.666G= c.1023G= (p.Gly341=) | |
17 | g.42687926G>T | CA8581736 | CNTNAP1 | c.1251G>T (p.Gly417=) n.666G>T c.1023G>T (p.Gly341=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687927C>A | CA399638278 | CNTNAP1 | c.1252C>A (p.Gln418Lys) n.667C>A c.1024C>A (p.Gln342Lys) | |
17 | g.42687927C= | CA2260598595 | CNTNAP1 | c.1252C= (p.Gln418=) n.667C= c.1024C= (p.Gln342=) | |
17 | g.42687927C>G | CA399638280 | CNTNAP1 | c.1252C>G (p.Gln418Glu) n.667C>G c.1024C>G (p.Gln342Glu) | |
17 | g.42687927C>T | CA8581737 | CNTNAP1 | c.1252C>T (p.Gln418Ter) n.667C>T c.1024C>T (p.Gln342Ter) | dbSNP ExAC gnomAD v2 |
17 | g.42687928A>C | CA399638285 | CNTNAP1 | c.1253A>C (p.Gln418Pro) n.668A>C c.1025A>C (p.Gln342Pro) | |
17 | g.42687928A>G | CA399638286 | CNTNAP1 | c.1253A>G (p.Gln418Arg) n.668A>G c.1025A>G (p.Gln342Arg) | |
17 | g.42687928A>T | CA399638289 | CNTNAP1 | c.1253A>T (p.Gln418Leu) n.668A>T c.1025A>T (p.Gln342Leu) | |
17 | g.42687929_42687934del | CA2637974414 | CNTNAP1 | c.1254_1259del (p.Gln418_Asn420delinsHis) n.669_674del c.1026_1031del (p.Gln342_Asn344delinsHis) | gnomAD v4 |
17 | g.42687929G>A | CA500091376 | CNTNAP1 | c.1254G>A (p.Gln418=) n.669G>A c.1026G>A (p.Gln342=) | gnomAD v4 COSMIC |
17 | g.42687929G>C | CA399638291 | CNTNAP1 | c.1254G>C (p.Gln418His) n.669G>C c.1026G>C (p.Gln342His) | |
17 | g.42687929G>T | CA399638294 | CNTNAP1 | c.1254G>T (p.Gln418His) n.669G>T c.1026G>T (p.Gln342His) | |
17 | g.42687930G>A | CA399638298 | CNTNAP1 | c.1255G>A (p.Val419Ile) n.670G>A c.1027G>A (p.Val343Ile) | gnomAD v4 |
17 | g.42687930G>C | CA399638299 | CNTNAP1 | c.1255G>C (p.Val419Leu) n.670G>C c.1027G>C (p.Val343Leu) | |
17 | g.42687930G>T | CA399638300 | CNTNAP1 | c.1255G>T (p.Val419Phe) n.670G>T c.1027G>T (p.Val343Phe) | |
17 | g.42687931T>A | CA399638307 | CNTNAP1 | c.1256T>A (p.Val419Asp) n.671T>A c.1028T>A (p.Val343Asp) | |
17 | g.42687931T>C | CA399638302 | CNTNAP1 | c.1256T>C (p.Val419Ala) n.671T>C c.1028T>C (p.Val343Ala) | |
17 | g.42687931T>G | CA399638304 | CNTNAP1 | c.1256T>G (p.Val419Gly) n.671T>G c.1028T>G (p.Val343Gly) | |
17 | g.42687932C>A | CA500091377 | CNTNAP1 | c.1257C>A (p.Val419=) n.672C>A c.1029C>A (p.Val343=) | |
17 | g.42687932C>G | CA500091378 | CNTNAP1 | c.1257C>G (p.Val419=) n.672C>G c.1029C>G (p.Val343=) | |
17 | g.42687932C>T | CA500091379 | CNTNAP1 | c.1257C>T (p.Val419=) n.672C>T c.1029C>T (p.Val343=) | |
17 | g.42687933A>C | CA399638309 | CNTNAP1 | c.1258A>C (p.Asn420His) n.673A>C c.1030A>C (p.Asn344His) | |
17 | g.42687933A>G | CA399638311 | CNTNAP1 | c.1258A>G (p.Asn420Asp) n.673A>G c.1030A>G (p.Asn344Asp) | |
17 | g.42687933A>T | CA399638313 | CNTNAP1 | c.1258A>T (p.Asn420Tyr) n.673A>T c.1030A>T (p.Asn344Tyr) | |
17 | g.42687934A>C | CA399638315 | CNTNAP1 | c.1259A>C (p.Asn420Thr) n.674A>C c.1031A>C (p.Asn344Thr) | |
17 | g.42687934A>G | CA399638317 | CNTNAP1 | c.1259A>G (p.Asn420Ser) n.674A>G c.1031A>G (p.Asn344Ser) | gnomAD v4 |
17 | g.42687934A>T | CA399638319 | CNTNAP1 | c.1259A>T (p.Asn420Ile) n.674A>T c.1031A>T (p.Asn344Ile) | |
17 | g.42687935C>A | CA399638322 | CNTNAP1 | c.1260C>A (p.Asn420Lys) n.675C>A c.1032C>A (p.Asn344Lys) | dbSNP |
17 | g.42687935C= | CA2260598596 | CNTNAP1 | c.1260C= (p.Asn420=) n.675C= c.1032C= (p.Asn344=) | |
17 | g.42687935C>G | CA399638325 | CNTNAP1 | c.1260C>G (p.Asn420Lys) n.675C>G c.1032C>G (p.Asn344Lys) | |
17 | g.42687935C>T | CA500091383 | CNTNAP1 | c.1260C>T (p.Asn420=) n.675C>T c.1032C>T (p.Asn344=) | gnomAD v4 |
17 | g.42687936G>A | CA399638328 | CNTNAP1 | c.1261G>A (p.Val421Met) n.676G>A c.1033G>A (p.Val345Met) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42687936G>C | CA399638329 | CNTNAP1 | c.1261G>C (p.Val421Leu) n.676G>C c.1033G>C (p.Val345Leu) | gnomAD v4 |
17 | g.42687936G= | CA2260598597 | CNTNAP1 | c.1261G= (p.Val421=) n.676G= c.1033G= (p.Val345=) | |
17 | g.42687936G>T | CA399638332 | CNTNAP1 | c.1261G>T (p.Val421Leu) n.676G>T c.1033G>T (p.Val345Leu) | |
17 | g.42687937T>A | CA399638342 | CNTNAP1 | c.1262T>A (p.Val421Glu) n.677T>A c.1034T>A (p.Val345Glu) | |
17 | g.42687937T>C | CA399638339 | CNTNAP1 | c.1262T>C (p.Val421Ala) n.677T>C c.1034T>C (p.Val345Ala) | |
17 | g.42687937T>G | CA399638337 | CNTNAP1 | c.1262T>G (p.Val421Gly) n.677T>G c.1034T>G (p.Val345Gly) | |
17 | g.42687938G>A | CA500091386 | CNTNAP1 | c.1263G>A (p.Val421=) n.678G>A c.1035G>A (p.Val345=) | |
17 | g.42687938G>C | CA500091384 | CNTNAP1 | c.1263G>C (p.Val421=) n.678G>C c.1035G>C (p.Val345=) | |
17 | g.42687938G= | CA2260598598 | CNTNAP1 | c.1263G= (p.Val421=) n.678G= c.1035G= (p.Val345=) | |
17 | g.42687938G>T | CA500091385 | CNTNAP1 | c.1263G>T (p.Val421=) n.678G>T c.1035G>T (p.Val345=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42687939T>A | CA399638344 | CNTNAP1 | c.1264T>A (p.Ser422Thr) n.679T>A c.1036T>A (p.Ser346Thr) | |
17 | g.42687939T>C | CA399638348 | CNTNAP1 | c.1264T>C (p.Ser422Pro) n.679T>C c.1036T>C (p.Ser346Pro) | |
17 | g.42687939T>G | CA399638346 | CNTNAP1 | c.1264T>G (p.Ser422Ala) n.679T>G c.1036T>G (p.Ser346Ala) | |
17 | g.42687940C>A | CA399638359 | CNTNAP1 | c.1265C>A (p.Ser422Tyr) n.680C>A c.1037C>A (p.Ser346Tyr) | |
17 | g.42687940C= | CA2260598599 | CNTNAP1 | c.1265C= (p.Ser422=) n.680C= c.1037C= (p.Ser346=) | |
17 | g.42687940C>G | CA399638364 | CNTNAP1 | c.1265C>G (p.Ser422Cys) n.680C>G c.1037C>G (p.Ser346Cys) | |
17 | g.42687940C>T | CA8581738 | CNTNAP1 | c.1265C>T (p.Ser422Phe) n.680C>T c.1037C>T (p.Ser346Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687941C>A | CA500091390 | CNTNAP1 | c.1266C>A (p.Ser422=) n.681C>A c.1038C>A (p.Ser346=) | gnomAD v4 |
17 | g.42687941C>G | CA500091391 | CNTNAP1 | c.1266C>G (p.Ser422=) n.681C>G c.1038C>G (p.Ser346=) | |
17 | g.42687941C>T | CA500091389 | CNTNAP1 | c.1266C>T (p.Ser422=) n.681C>T c.1038C>T (p.Ser346=) | |
17 | g.42687942A>C | CA399638368 | CNTNAP1 | c.1267A>C (p.Ile423Leu) n.682A>C c.1039A>C (p.Ile347Leu) | |
17 | g.42687942A>G | CA399638369 | CNTNAP1 | c.1267A>G (p.Ile423Val) n.682A>G c.1039A>G (p.Ile347Val) | |
17 | g.42687942A>T | CA399638377 | CNTNAP1 | c.1267A>T (p.Ile423Phe) n.682A>T c.1039A>T (p.Ile347Phe) | |
17 | g.42687943T>A | CA399638380 | CNTNAP1 | c.1268T>A (p.Ile423Asn) n.683T>A c.1040T>A (p.Ile347Asn) | |
17 | g.42687943T>C | CA399638381 | CNTNAP1 | c.1268T>C (p.Ile423Thr) n.683T>C c.1040T>C (p.Ile347Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687943T>G | CA399638384 | CNTNAP1 | c.1268T>G (p.Ile423Ser) n.683T>G c.1040T>G (p.Ile347Ser) | |
17 | g.42687943T= | CA2260598600 | CNTNAP1 | c.1268T= (p.Ile423=) n.683T= c.1040T= (p.Ile347=) | |
17 | g.42687944C>A | CA500091395 | CNTNAP1 | c.1269C>A (p.Ile423=) n.684C>A c.1041C>A (p.Ile347=) | |
17 | g.42687944C>G | CA399638385 | CNTNAP1 | c.1269C>G (p.Ile423Met) n.684C>G c.1041C>G (p.Ile347Met) | |
17 | g.42687944C>T | CA500091396 | CNTNAP1 | c.1269C>T (p.Ile423=) n.684C>T c.1041C>T (p.Ile347=) | COSMIC |
17 | g.42687945G>A | CA399638388 | CNTNAP1 | c.1270G>A (p.Ala424Thr) n.685G>A c.1042G>A (p.Ala348Thr) | dbSNP gnomAD v4 |
17 | g.42687945G>C | CA399638390 | CNTNAP1 | c.1270G>C (p.Ala424Pro) n.685G>C c.1042G>C (p.Ala348Pro) | |
17 | g.42687945G= | CA2260598601 | CNTNAP1 | c.1270G= (p.Ala424=) n.685G= c.1042G= (p.Ala348=) | |
17 | g.42687945G>T | CA399638393 | CNTNAP1 | c.1270G>T (p.Ala424Ser) n.685G>T c.1042G>T (p.Ala348Ser) | |
17 | g.42687946del | CA2637974415 | CNTNAP1 | c.1271del (p.Ala424GlyfsTer16) n.686del c.1043del (p.Ala348GlyfsTer16) | gnomAD v4 |
17 | g.42687946C>A | CA399638399 | CNTNAP1 | c.1271C>A (p.Ala424Glu) n.686C>A c.1043C>A (p.Ala348Glu) | |
17 | g.42687946C>G | CA399638396 | CNTNAP1 | c.1271C>G (p.Ala424Gly) n.686C>G c.1043C>G (p.Ala348Gly) | |
17 | g.42687946C>T | CA399638395 | CNTNAP1 | c.1271C>T (p.Ala424Val) n.686C>T c.1043C>T (p.Ala348Val) | dbSNP |
17 | g.42687947G>A | CA500091397 | CNTNAP1 | c.1272G>A (p.Ala424=) n.687G>A c.1044G>A (p.Ala348=) | |
17 | g.42687947G>C | CA500091399 | CNTNAP1 | c.1272G>C (p.Ala424=) n.687G>C c.1044G>C (p.Ala348=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42687947G= | CA2260598602 | CNTNAP1 | c.1272G= (p.Ala424=) n.687G= c.1044G= (p.Ala348=) | |
17 | g.42687947G>T | CA500091398 | CNTNAP1 | c.1272G>T (p.Ala424=) n.687G>T c.1044G>T (p.Ala348=) | |
17 | g.42687948C>A | CA399638402 | CNTNAP1 | c.1273C>A (p.Gln425Lys) n.688C>A c.1045C>A (p.Gln349Lys) | |
17 | g.42687948C>G | CA399638404 | CNTNAP1 | c.1273C>G (p.Gln425Glu) n.688C>G c.1045C>G (p.Gln349Glu) | |
17 | g.42687948C>T | CA399638407 | CNTNAP1 | c.1273C>T (p.Gln425Ter) n.688C>T c.1045C>T (p.Gln349Ter) | |
17 | g.42687949A>C | CA399638409 | CNTNAP1 | c.1274A>C (p.Gln425Pro) n.689A>C c.1046A>C (p.Gln349Pro) | |
17 | g.42687949A>G | CA399638411 | CNTNAP1 | c.1274A>G (p.Gln425Arg) n.689A>G c.1046A>G (p.Gln349Arg) | |
17 | g.42687949A>T | CA399638412 | CNTNAP1 | c.1274A>T (p.Gln425Leu) n.689A>T c.1046A>T (p.Gln349Leu) | |
17 | g.42687950G>A | CA500091403 | CNTNAP1 | c.1275G>A (p.Gln425=) n.690G>A c.1047G>A (p.Gln349=) | |
17 | g.42687950G>C | CA399638414 | CNTNAP1 | c.1275G>C (p.Gln425His) n.690G>C c.1047G>C (p.Gln349His) | |
17 | g.42687950G>T | CA399638416 | CNTNAP1 | c.1275G>T (p.Gln425His) n.690G>T c.1047G>T (p.Gln349His) | |
17 | g.42687951A>C | CA399638418 | CNTNAP1 | c.1276A>C (p.Ser426Arg) n.691A>C c.1048A>C (p.Ser350Arg) | |
17 | g.42687951A>G | CA399638421 | CNTNAP1 | c.1276A>G (p.Ser426Gly) n.691A>G c.1048A>G (p.Ser350Gly) | |
17 | g.42687951A>T | CA399638423 | CNTNAP1 | c.1276A>T (p.Ser426Cys) n.691A>T c.1048A>T (p.Ser350Cys) | |
17 | g.42687952G>A | CA399638427 | CNTNAP1 | c.1277G>A (p.Ser426Asn) n.692G>A c.1049G>A (p.Ser350Asn) | |
17 | g.42687952G>C | CA399638430 | CNTNAP1 | c.1277G>C (p.Ser426Thr) n.692G>C c.1049G>C (p.Ser350Thr) | |
17 | g.42687952G>T | CA399638425 | CNTNAP1 | c.1277G>T (p.Ser426Ile) n.692G>T c.1049G>T (p.Ser350Ile) | COSMIC |
17 | g.42687953C>A | CA399638432 | CNTNAP1 | c.1278C>A (p.Ser426Arg) n.693C>A c.1050C>A (p.Ser350Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42687953C= | CA2260598603 | CNTNAP1 | c.1278C= (p.Ser426=) n.693C= c.1050C= (p.Ser350=) | |
17 | g.42687953C>G | CA399638435 | CNTNAP1 | c.1278C>G (p.Ser426Arg) n.693C>G c.1050C>G (p.Ser350Arg) | gnomAD v4 |
17 | g.42687953C>T | CA500091404 | CNTNAP1 | c.1278C>T (p.Ser426=) n.693C>T c.1050C>T (p.Ser350=) | |
17 | g.42687954G>A | CA8581740 | CNTNAP1 | c.1279G>A (p.Gly427Ser) n.694G>A c.1051G>A (p.Gly351Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687954G>C | CA8581739 | CNTNAP1 | c.1279G>C (p.Gly427Arg) n.694G>C c.1051G>C (p.Gly351Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687954G= | CA2260598604 | CNTNAP1 | c.1279G= (p.Gly427=) n.694G= c.1051G= (p.Gly351=) | |
17 | g.42687954G>T | CA290793144 | CNTNAP1 | c.1279G>T (p.Gly427Cys) n.694G>T c.1051G>T (p.Gly351Cys) | dbSNP gnomAD v4 |
17 | g.42687955G>A | CA399638445 | CNTNAP1 | c.1280G>A (p.Gly427Asp) n.695G>A c.1052G>A (p.Gly351Asp) | |
17 | g.42687955G>C | CA399638446 | CNTNAP1 | c.1280G>C (p.Gly427Ala) n.695G>C c.1052G>C (p.Gly351Ala) | |
17 | g.42687955G>T | CA399638449 | CNTNAP1 | c.1280G>T (p.Gly427Val) n.695G>T c.1052G>T (p.Gly351Val) | |
17 | g.42687956C>A | CA500091407 | CNTNAP1 | c.1281C>A (p.Gly427=) n.696C>A c.1053C>A (p.Gly351=) | |
17 | g.42687956C>G | CA500091406 | CNTNAP1 | c.1281C>G (p.Gly427=) n.696C>G c.1053C>G (p.Gly351=) | |
17 | g.42687956C>T | CA500091408 | CNTNAP1 | c.1281C>T (p.Gly427=) n.696C>T c.1053C>T (p.Gly351=) | |
17 | g.42687957C>A | CA8581741 | CNTNAP1 | c.1282C>A (p.Arg428=) n.697C>A c.1054C>A (p.Arg352=) | dbSNP ExAC gnomAD v2 |
17 | g.42687957C= | CA2260598605 | CNTNAP1 | c.1282C= (p.Arg428=) n.697C= c.1054C= (p.Arg352=) | |
17 | g.42687957C>G | CA399638452 | CNTNAP1 | c.1282C>G (p.Arg428Gly) n.697C>G c.1054C>G (p.Arg352Gly) | dbSNP gnomAD v4 |
17 | g.42687957C>T | CA16607242 | CNTNAP1 | c.1282C>T (p.Arg428Ter) n.697C>T c.1054C>T (p.Arg352Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42687958G>A | CA290793154 | CNTNAP1 | c.1283G>A (p.Arg428Gln) n.698G>A c.1055G>A (p.Arg352Gln) | dbSNP COSMIC |
17 | g.42687958G>C | CA399638457 | CNTNAP1 | c.1283G>C (p.Arg428Pro) n.698G>C c.1055G>C (p.Arg352Pro) | |
17 | g.42687958G= | CA2260598606 | CNTNAP1 | c.1283G= (p.Arg428=) n.698G= c.1055G= (p.Arg352=) | |
17 | g.42687958G>T | CA399638455 | CNTNAP1 | c.1283G>T (p.Arg428Leu) n.698G>T c.1055G>T (p.Arg352Leu) | |
17 | g.42687959A>C | CA500091411 | CNTNAP1 | c.1284A>C (p.Arg428=) n.699A>C c.1056A>C (p.Arg352=) | |
17 | g.42687959A>G | CA500091414 | CNTNAP1 | c.1284A>G (p.Arg428=) n.699A>G c.1056A>G (p.Arg352=) | |
17 | g.42687959A>T | CA500091412 | CNTNAP1 | c.1284A>T (p.Arg428=) n.699A>T c.1056A>T (p.Arg352=) | |
17 | g.42687960A>C | CA399638459 | CNTNAP1 | c.1285A>C (p.Lys429Gln) n.700A>C c.1057A>C (p.Lys353Gln) | |
17 | g.42687960A>G | CA399638462 | CNTNAP1 | c.1285A>G (p.Lys429Glu) n.700A>G c.1057A>G (p.Lys353Glu) | |
17 | g.42687960A>T | CA399638465 | CNTNAP1 | c.1285A>T (p.Lys429Ter) n.700A>T c.1057A>T (p.Lys353Ter) | |
17 | g.42687961A>C | CA399638467 | CNTNAP1 | c.1286A>C (p.Lys429Thr) n.701A>C c.1058A>C (p.Lys353Thr) | |
17 | g.42687961A>G | CA399638470 | CNTNAP1 | c.1286A>G (p.Lys429Arg) n.701A>G c.1058A>G (p.Lys353Arg) | |
17 | g.42687961A>T | CA399638473 | CNTNAP1 | c.1286A>T (p.Lys429Met) n.701A>T c.1058A>T (p.Lys353Met) | |
17 | g.42687962G>A | CA500091415 | CNTNAP1 | c.1287G>A (p.Lys429=) n.702G>A c.1059G>A (p.Lys353=) | gnomAD v4 |
17 | g.42687962G>C | CA399638475 | CNTNAP1 | c.1287G>C (p.Lys429Asn) n.702G>C c.1059G>C (p.Lys353Asn) | |
17 | g.42687962G>T | CA399638478 | CNTNAP1 | c.1287G>T (p.Lys429Asn) n.702G>T c.1059G>T (p.Lys353Asn) | |
17 | g.42687963A>C | CA399638480 | CNTNAP1 | c.1288A>C (p.Lys430Gln) n.703A>C c.1060A>C (p.Lys354Gln) | |
17 | g.42687963A>G | CA399638482 | CNTNAP1 | c.1288A>G (p.Lys430Glu) n.703A>G c.1060A>G (p.Lys354Glu) | |
17 | g.42687963A>T | CA399638484 | CNTNAP1 | c.1288A>T (p.Lys430Ter) n.703A>T c.1060A>T (p.Lys354Ter) | |
17 | g.42687964A= | CA2260598607 | CNTNAP1 | c.1289A= (p.Lys430=) n.704A= c.1061A= (p.Lys354=) | |
17 | g.42687964A>C | CA399638487 | CNTNAP1 | c.1289A>C (p.Lys430Thr) n.704A>C c.1061A>C (p.Lys354Thr) | gnomAD v4 |
17 | g.42687964A>G | CA399638488 | CNTNAP1 | c.1289A>G (p.Lys430Arg) n.704A>G c.1061A>G (p.Lys354Arg) | dbSNP |
17 | g.42687964A>T | CA399638490 | CNTNAP1 | c.1289A>T (p.Lys430Met) n.704A>T c.1061A>T (p.Lys354Met) | |
17 | g.42687965G>A | CA500091418 | CNTNAP1 | c.1290G>A (p.Lys430=) n.705G>A c.1062G>A (p.Lys354=) | |
17 | g.42687965G>C | CA399638495 | CNTNAP1 | c.1290G>C (p.Lys430Asn) n.705G>C c.1062G>C (p.Lys354Asn) | |
17 | g.42687965G>T | CA399638493 | CNTNAP1 | c.1290G>T (p.Lys430Asn) n.705G>T c.1062G>T (p.Lys354Asn) | gnomAD v4 |
17 | g.42687966C>A | CA399638498 | CNTNAP1 | c.1291C>A (p.Leu431Ile) n.706C>A c.1063C>A (p.Leu355Ile) | |
17 | g.42687966C>G | CA399638503 | CNTNAP1 | c.1291C>G (p.Leu431Val) n.706C>G c.1063C>G (p.Leu355Val) | |
17 | g.42687966C>T | CA399638500 | CNTNAP1 | c.1291C>T (p.Leu431Phe) n.706C>T c.1063C>T (p.Leu355Phe) | gnomAD v4 |
17 | g.42687967T>A | CA399638506 | CNTNAP1 | c.1292T>A (p.Leu431His) n.707T>A c.1064T>A (p.Leu355His) | |
17 | g.42687967T>C | CA399638510 | CNTNAP1 | c.1292T>C (p.Leu431Pro) n.707T>C c.1064T>C (p.Leu355Pro) | |
17 | g.42687967T>G | CA399638511 | CNTNAP1 | c.1292T>G (p.Leu431Arg) n.707T>G c.1064T>G (p.Leu355Arg) | |
17 | g.42687968T>A | CA500091421 | CNTNAP1 | c.1293T>A (p.Leu431=) n.708T>A c.1065T>A (p.Leu355=) | |
17 | g.42687968T>C | CA500091419 | CNTNAP1 | c.1293T>C (p.Leu431=) n.708T>C c.1065T>C (p.Leu355=) | gnomAD v4 |
17 | g.42687968T>G | CA500091420 | CNTNAP1 | c.1293T>G (p.Leu431=) n.708T>G c.1065T>G (p.Leu355=) | |
17 | g.42687969C>A | CA399638514 | CNTNAP1 | c.1294C>A (p.Gln432Lys) n.709C>A c.1066C>A (p.Gln356Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.42687969C= | CA2260598608 | CNTNAP1 | c.1294C= (p.Gln432=) n.709C= c.1066C= (p.Gln356=) | |
17 | g.42687969C>G | CA399638517 | CNTNAP1 | c.1294C>G (p.Gln432Glu) n.709C>G c.1066C>G (p.Gln356Glu) | |
17 | g.42687969C>T | CA399638523 | CNTNAP1 | c.1294C>T (p.Gln432Ter) n.709C>T c.1066C>T (p.Gln356Ter) | |
17 | g.42687970A= | CA2260598609 | CNTNAP1 | c.1295A= (p.Gln432=) n.710A= c.1067A= (p.Gln356=) | |
17 | g.42687970A>C | CA399638526 | CNTNAP1 | c.1295A>C (p.Gln432Pro) n.710A>C c.1067A>C (p.Gln356Pro) | |
17 | g.42687970A>G | CA399638527 | CNTNAP1 | c.1295A>G (p.Gln432Arg) n.710A>G c.1067A>G (p.Gln356Arg) | |
17 | g.42687970A>T | CA8581742 | CNTNAP1 | c.1295A>T (p.Gln432Leu) n.710A>T c.1067A>T (p.Gln356Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687971G>A | CA500091423 | CNTNAP1 | c.1296G>A (p.Gln432=) n.711G>A c.1068G>A (p.Gln356=) | |
17 | g.42687971G>C | CA399638537 | CNTNAP1 | c.1296G>C (p.Gln432His) n.711G>C c.1068G>C (p.Gln356His) | |
17 | g.42687971G>T | CA399638540 | CNTNAP1 | c.1296G>T (p.Gln432His) n.711G>T c.1068G>T (p.Gln356His) | |
17 | g.42687972T>A | CA399638549 | CNTNAP1 | c.1297T>A (p.Phe433Ile) n.712T>A c.1069T>A (p.Phe357Ile) | |
17 | g.42687972T>C | CA399638547 | CNTNAP1 | c.1297T>C (p.Phe433Leu) n.712T>C c.1069T>C (p.Phe357Leu) | |
17 | g.42687972T>G | CA399638545 | CNTNAP1 | c.1297T>G (p.Phe433Val) n.712T>G c.1069T>G (p.Phe357Val) | |
17 | g.42687973T>A | CA399638551 | CNTNAP1 | c.1298T>A (p.Phe433Tyr) n.713T>A c.1070T>A (p.Phe357Tyr) | |
17 | g.42687973T>C | CA399638553 | CNTNAP1 | c.1298T>C (p.Phe433Ser) n.713T>C c.1070T>C (p.Phe357Ser) | |
17 | g.42687973T>G | CA399638555 | CNTNAP1 | c.1298T>G (p.Phe433Cys) n.713T>G c.1070T>G (p.Phe357Cys) | |
17 | g.42687974C>A | CA399638557 | CNTNAP1 | c.1299C>A (p.Phe433Leu) n.714C>A c.1071C>A (p.Phe357Leu) | gnomAD v4 |
17 | g.42687974C= | CA2260598610 | CNTNAP1 | c.1299C= (p.Phe433=) n.714C= c.1071C= (p.Phe357=) | |
17 | g.42687974C>G | CA399638559 | CNTNAP1 | c.1299C>G (p.Phe433Leu) n.714C>G c.1071C>G (p.Phe357Leu) | |
17 | g.42687974C>T | CA8581743 | CNTNAP1 | c.1299C>T (p.Phe433=) n.714C>T c.1071C>T (p.Phe357=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687975G>A | CA290793164 | CNTNAP1 | c.1300G>A (p.Ala434Thr) n.715G>A c.1072G>A (p.Ala358Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687975G>C | CA399638571 | CNTNAP1 | c.1300G>C (p.Ala434Pro) n.715G>C c.1072G>C (p.Ala358Pro) | gnomAD v4 |
17 | g.42687975G= | CA2260598611 | CNTNAP1 | c.1300G= (p.Ala434=) n.715G= c.1072G= (p.Ala358=) | |
17 | g.42687975G>T | CA399638573 | CNTNAP1 | c.1300G>T (p.Ala434Ser) n.715G>T c.1072G>T (p.Ala358Ser) | |
17 | g.42687976C>A | CA399638577 | CNTNAP1 | c.1301C>A (p.Ala434Asp) n.716C>A c.1073C>A (p.Ala358Asp) | |
17 | g.42687976C>G | CA399638579 | CNTNAP1 | c.1301C>G (p.Ala434Gly) n.716C>G c.1073C>G (p.Ala358Gly) | |
17 | g.42687976C>T | CA399638581 | CNTNAP1 | c.1301C>T (p.Ala434Val) n.716C>T c.1073C>T (p.Ala358Val) | |
17 | g.42687977T>A | CA500091425 | CNTNAP1 | c.1302T>A (p.Ala434=) n.717T>A c.1074T>A (p.Ala358=) | |
17 | g.42687977T>C | CA500091426 | CNTNAP1 | c.1302T>C (p.Ala434=) n.717T>C c.1074T>C (p.Ala358=) | |
17 | g.42687977T>G | CA500091424 | CNTNAP1 | c.1302T>G (p.Ala434=) n.717T>G c.1074T>G (p.Ala358=) | |
17 | g.42687978G>A | CA399638587 | CNTNAP1 | c.1303G>A (p.Ala435Thr) n.718G>A c.1075G>A (p.Ala359Thr) | |
17 | g.42687978G>C | CA399638589 | CNTNAP1 | c.1303G>C (p.Ala435Pro) n.718G>C c.1075G>C (p.Ala359Pro) | |
17 | g.42687978G>T | CA399638584 | CNTNAP1 | c.1303G>T (p.Ala435Ser) n.718G>T c.1075G>T (p.Ala359Ser) | |
17 | g.42687979C>A | CA399638591 | CNTNAP1 | c.1304C>A (p.Ala435Asp) n.719C>A c.1076C>A (p.Ala359Asp) | gnomAD v4 |
17 | g.42687979C>G | CA399638594 | CNTNAP1 | c.1304C>G (p.Ala435Gly) n.719C>G c.1076C>G (p.Ala359Gly) | |
17 | g.42687979C>T | CA399638600 | CNTNAP1 | c.1304C>T (p.Ala435Val) n.719C>T c.1076C>T (p.Ala359Val) | |
17 | g.42687980T>A | CA500091427 | CNTNAP1 | c.1305T>A (p.Ala435=) n.720T>A c.1077T>A (p.Ala359=) | |
17 | g.42687980T>C | CA500091428 | CNTNAP1 | c.1305T>C (p.Ala435=) n.720T>C c.1077T>C (p.Ala359=) | gnomAD v4 |
17 | g.42687980T>G | CA500091429 | CNTNAP1 | c.1305T>G (p.Ala435=) n.720T>G c.1077T>G (p.Ala359=) | |
17 | g.42687981G>A | CA399638602 | CNTNAP1 | c.1306G>A (p.Gly436Arg) n.721G>A c.1078G>A (p.Gly360Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42687981G>C | CA399638605 | CNTNAP1 | c.1306G>C (p.Gly436Arg) n.721G>C c.1078G>C (p.Gly360Arg) | |
17 | g.42687981G= | CA2260598612 | CNTNAP1 | c.1306G= (p.Gly436=) n.721G= c.1078G= (p.Gly360=) | |
17 | g.42687981G>T | CA399638607 | CNTNAP1 | c.1306G>T (p.Gly436Trp) n.721G>T c.1078G>T (p.Gly360Trp) | |
17 | g.42687982G>A | CA399638610 | CNTNAP1 | c.1306+1G>A (n.1306+1G>A) n.721+1G>A c.1078+1G>A (n.1078+1G>A) | gnomAD v4 |
17 | g.42687982G>C | CA399638613 | CNTNAP1 | c.1306+1G>C (n.1306+1G>C) n.721+1G>C c.1078+1G>C (n.1078+1G>C) | |
17 | g.42687982G>T | CA399638616 | CNTNAP1 | c.1306+1G>T (n.1306+1G>T) n.721+1G>T c.1078+1G>T (n.1078+1G>T) | |
17 | g.42687983T>A | CA399638618 | CNTNAP1 | c.1306+2T>A (n.1306+2T>A) n.721+2T>A c.1078+2T>A (n.1078+2T>A) | |
17 | g.42687983T>C | CA399638619 | CNTNAP1 | c.1306+2T>C (n.1306+2T>C) n.721+2T>C c.1078+2T>C (n.1078+2T>C) | |
17 | g.42687983T>G | CA399638621 | CNTNAP1 | c.1306+2T>G (n.1306+2T>G) n.721+2T>G c.1078+2T>G (n.1078+2T>G) | |
17 | g.42687988del | CA2637974416 | CNTNAP1 | c.1306+7del (n.1306+7del) n.721+7del c.1078+7del (n.1078+7del) | gnomAD v4 |
17 | g.42687987G>A | CA626069152 | CNTNAP1 | c.1306+6G>A (n.1306+6G>A) n.721+6G>A c.1078+6G>A (n.1078+6G>A) | dbSNP gnomAD v2 |
17 | g.42687987G>C | CA8581744 | CNTNAP1 | c.1306+6G>C (n.1306+6G>C) n.721+6G>C c.1078+6G>C (n.1078+6G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687987G= | CA2260598613 | CNTNAP1 | c.1306+6G= (n.1306+6G=) n.721+6G= c.1078+6G= (n.1078+6G=) | |
17 | g.42687988G>T | CA2556592363 | CNTNAP1 | c.1306+7G>T (n.1306+7G>T) n.721+7G>T c.1078+7G>T (n.1078+7G>T) |