Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42682830_42689520del | CA915950015 | CNTNAP1 | c.1_1629-1del c.-1020_1401-1del | ClinVar |
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) | |
17 | g.42687989C= | CA2260598614 | CNTNAP1 | c.1306+8C= (n.1306+8C=) n.721+8C= c.1078+8C= (n.1078+8C=) | |
17 | g.42687989C>T | CA8581745 | CNTNAP1 | c.1306+8C>T (n.1306+8C>T) n.721+8C>T c.1078+8C>T (n.1078+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42687994C>T | CA2733741180 | CNTNAP1 | c.1306+13C>T (n.1306+13C>T) n.721+13C>T c.1078+13C>T (n.1078+13C>T) | dbSNP |
17 | g.42687995G>A | CA626069153 | CNTNAP1 | c.1306+14G>A (n.1306+14G>A) n.721+14G>A c.1078+14G>A (n.1078+14G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42687995G= | CA2260598615 | CNTNAP1 | c.1306+14G= (n.1306+14G=) n.721+14G= c.1078+14G= (n.1078+14G=) | |
17 | g.42687995G>T | CA2637974417 | CNTNAP1 | c.1306+14G>T (n.1306+14G>T) n.721+14G>T c.1078+14G>T (n.1078+14G>T) | gnomAD v4 |
17 | g.42687996G>A | CA626069154 | CNTNAP1 | c.1306+15G>A (n.1306+15G>A) n.721+15G>A c.1078+15G>A (n.1078+15G>A) | dbSNP gnomAD v2 |
17 | g.42687996G>C | CA8581746 | CNTNAP1 | c.1306+15G>C (n.1306+15G>C) n.721+15G>C c.1078+15G>C (n.1078+15G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687996G= | CA2260598616 | CNTNAP1 | c.1306+15G= (n.1306+15G=) n.721+15G= c.1078+15G= (n.1078+15G=) | |
17 | g.42687996G>T | CA2260598617 | CNTNAP1 | c.1306+15G>T (n.1306+15G>T) n.721+15G>T c.1078+15G>T (n.1078+15G>T) | dbSNP |
17 | g.42687997G>A | CA8581747 | CNTNAP1 | c.1306+16G>A (n.1306+16G>A) n.721+16G>A c.1078+16G>A (n.1078+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687997G= | CA2260598618 | CNTNAP1 | c.1306+16G= (n.1306+16G=) n.721+16G= c.1078+16G= (n.1078+16G=) | |
17 | g.42687997G>T | CA8581748 | CNTNAP1 | c.1306+16G>T (n.1306+16G>T) n.721+16G>T c.1078+16G>T (n.1078+16G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42687998G>A | CA626069155 | CNTNAP1 | c.1306+17G>A (n.1306+17G>A) n.721+17G>A c.1078+17G>A (n.1078+17G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42687998G= | CA2260598619 | CNTNAP1 | c.1306+17G= (n.1306+17G=) n.721+17G= c.1078+17G= (n.1078+17G=) | |
17 | g.42687998G>T | CA2637974418 | CNTNAP1 | c.1306+17G>T (n.1306+17G>T) n.721+17G>T c.1078+17G>T (n.1078+17G>T) | gnomAD v4 |
17 | g.42687999G>A | CA8581749 | CNTNAP1 | c.1306+18G>A (n.1306+18G>A) n.721+18G>A c.1078+18G>A (n.1078+18G>A) | dbSNP ExAC gnomAD v4 |
17 | g.42687999G= | CA2260598620 | CNTNAP1 | c.1306+18G= (n.1306+18G=) n.721+18G= c.1078+18G= (n.1078+18G=) | |
17 | g.42687999G>T | CA2637974419 | CNTNAP1 | c.1306+18G>T (n.1306+18G>T) n.721+18G>T c.1078+18G>T (n.1078+18G>T) | gnomAD v4 |
17 | g.42688000A>G | CA2637974420 | CNTNAP1 | c.1306+19A>G (n.1306+19A>G) n.721+19A>G c.1078+19A>G (n.1078+19A>G) | gnomAD v4 |
17 | g.42688001G>A | CA2637974421 | CNTNAP1 | c.1306+20G>A (n.1306+20G>A) n.721+20G>A c.1078+20G>A (n.1078+20G>A) | gnomAD v4 |
17 | g.42688001G>T | CA2637974422 | CNTNAP1 | c.1306+20G>T (n.1306+20G>T) n.721+20G>T c.1078+20G>T (n.1078+20G>T) | gnomAD v4 |
17 | g.42688002G>A | CA2260598622 | CNTNAP1 | c.1306+21G>A (n.1306+21G>A) n.721+21G>A c.1078+21G>A (n.1078+21G>A) | dbSNP |
17 | g.42688002G= | CA2260598621 | CNTNAP1 | c.1306+21G= (n.1306+21G=) n.721+21G= c.1078+21G= (n.1078+21G=) | |
17 | g.42688003C>A | CA626069156 | CNTNAP1 | c.1306+22C>A (n.1306+22C>A) n.721+22C>A c.1078+22C>A (n.1078+22C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42688003C= | CA2260598623 | CNTNAP1 | c.1306+22C= (n.1306+22C=) n.721+22C= c.1078+22C= (n.1078+22C=) | |
17 | g.42688003C>G | CA626069157 | CNTNAP1 | c.1306+22C>G (n.1306+22C>G) n.721+22C>G c.1078+22C>G (n.1078+22C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42688005C>A | CA2637974423 | CNTNAP1 | c.1306+24C>A (n.1306+24C>A) n.721+24C>A c.1078+24C>A (n.1078+24C>A) | gnomAD v4 |
17 | g.42688005C= | CA2260598626 | CNTNAP1 | c.1306+24C= (n.1306+24C=) n.721+24C= c.1078+24C= (n.1078+24C=) | |
17 | g.42688005C>T | CA2260598625 | CNTNAP1 | c.1306+24C>T (n.1306+24C>T) n.721+24C>T c.1078+24C>T (n.1078+24C>T) | dbSNP gnomAD v4 |
17 | g.42688005_42688013delinsCAAGAAGAG | CA2260598624 | CNTNAP1 | c.1306+24_1306+32delinsCAAGAAGAG (n.1306+24_1306+32delinsCAAGAAGAG) n.721+24_721+32delinsCAAGAAGAG c.1078+24_1078+32delinsCAAGAAGAG (n.1078+24_1078+32delinsCAAGAAGAG) | |
17 | g.42688006A>C | CA2637974424 | CNTNAP1 | c.1306+25A>C (n.1306+25A>C) n.721+25A>C c.1078+25A>C (n.1078+25A>C) | gnomAD v4 |
17 | g.42688006_42688011delinsAAGAAG | CA2260598627 | CNTNAP1 | c.1306+25_1306+30delinsAAGAAG (n.1306+25_1306+30delinsAAGAAG) n.721+25_721+30delinsAAGAAG c.1078+25_1078+30delinsAAGAAG (n.1078+25_1078+30delinsAAGAAG) | |
17 | g.42688010_42688017del | CA626069158 | CNTNAP1 | c.1306+29_1306+36del (n.1306+29_1306+36del) n.721+29_721+36del c.1078+29_1078+36del (n.1078+29_1078+36del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42688007A= | CA2260598629 | CNTNAP1 | c.1306+26A= (n.1306+26A=) n.721+26A= c.1078+26A= (n.1078+26A=) | |
17 | g.42688007A>G | CA626069159 | CNTNAP1 | c.1306+26A>G (n.1306+26A>G) n.721+26A>G c.1078+26A>G (n.1078+26A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42688017_42688021dup | CA2260598628 | CNTNAP1 | c.1306+36_1306+40dup (n.1306+36_1306+40dup) n.721+36_721+40dup c.1078+36_1078+40dup (n.1078+36_1078+40dup) | dbSNP |
17 | g.42688017_42688021del | CA8581750 | CNTNAP1 | c.1306+36_1306+40del (n.1306+36_1306+40del) n.721+36_721+40del c.1078+36_1078+40del (n.1078+36_1078+40del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42688008G>C | CA2637974425 | CNTNAP1 | c.1306+27G>C (n.1306+27G>C) n.721+27G>C c.1078+27G>C (n.1078+27G>C) | gnomAD v4 |
17 | g.42688008G>T | CA2576278113 | CNTNAP1 | c.1306+27G>T (n.1306+27G>T) n.721+27G>T c.1078+27G>T (n.1078+27G>T) | |
17 | g.42688009A= | CA2260598630 | CNTNAP1 | c.1306+28A= (n.1306+28A=) n.721+28A= c.1078+28A= (n.1078+28A=) | |
17 | g.42688009A>G | CA626069160 | CNTNAP1 | c.1306+28A>G (n.1306+28A>G) n.721+28A>G c.1078+28A>G (n.1078+28A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42688010A= | CA2260598632 | CNTNAP1 | c.1306+29A= (n.1306+29A=) n.721+29A= c.1078+29A= (n.1078+29A=) | |
17 | g.42688010A>C | CA2260598633 | CNTNAP1 | c.1306+29A>C (n.1306+29A>C) n.721+29A>C c.1078+29A>C (n.1078+29A>C) | dbSNP gnomAD v4 |
17 | g.42688010_42688013delinsAGAG | CA2260598631 | CNTNAP1 | c.1306+29_1306+32delinsAGAG (n.1306+29_1306+32delinsAGAG) n.721+29_721+32delinsAGAG c.1078+29_1078+32delinsAGAG (n.1078+29_1078+32delinsAGAG) | |
17 | g.42688011G>A | CA2637974426 | CNTNAP1 | c.1306+30G>A (n.1306+30G>A) n.721+30G>A c.1078+30G>A (n.1078+30G>A) | gnomAD v4 |
17 | g.42688011G>T | CA2637974427 | CNTNAP1 | c.1306+30G>T (n.1306+30G>T) n.721+30G>T c.1078+30G>T (n.1078+30G>T) | gnomAD v4 |
17 | g.42688011_42688013del | CA626069161 | CNTNAP1 | c.1306+30_1306+32del (n.1306+30_1306+32del) n.721+30_721+32del c.1078+30_1078+32del (n.1078+30_1078+32del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42688014A>G | CA2637974428 | CNTNAP1 | c.1306+33A>G (n.1306+33A>G) n.721+33A>G c.1078+33A>G (n.1078+33A>G) | gnomAD v4 |
17 | g.42688015_42688018delinsAGAG | CA2260598634 | CNTNAP1 | c.1306+34_1306+37delinsAGAG (n.1306+34_1306+37delinsAGAG) n.721+34_721+37delinsAGAG c.1078+34_1078+37delinsAGAG (n.1078+34_1078+37delinsAGAG) | |
17 | g.42688016G= | CA2260598635 | CNTNAP1 | c.1306+35G= (n.1306+35G=) n.721+35G= c.1078+35G= (n.1078+35G=) | |
17 | g.42688016G>T | CA290793188 | CNTNAP1 | c.1306+35G>T (n.1306+35G>T) n.721+35G>T c.1078+35G>T (n.1078+35G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42688016_42688018del | CA8581751 | CNTNAP1 | c.1306+35_1306+37del (n.1306+35_1306+37del) n.721+35_721+37del c.1078+35_1078+37del (n.1078+35_1078+37del) | dbSNP ExAC gnomAD v3 gnomAD v4 |