UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42682830_42689520del | CA915950015 | CNTNAP1 | c.1_1629-1del c.-1020_1401-1del | ClinVar |
| 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=) | |
| 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=) |