Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.137566856_137566861delinsCTTCAA | CA2460727949 | ZIC3 | c.165_170delinsCTTCAA (p.Ala55=) | |
X | g.137566857T>A | CA414769317 | ZIC3 | c.166T>A (p.Phe56Ile) | |
X | g.137566857T>C | CA414769318 | ZIC3 | c.166T>C (p.Phe56Leu) | |
X | g.137566857T>G | CA414769319 | ZIC3 | c.166T>G (p.Phe56Val) | |
X | g.137566857_137566861del | CA10529279 | ZIC3 | c.166_170del (p.Phe56AlafsTer?) | dbSNP ExAC |
X | g.137566858T>A | CA414769320 | ZIC3 | c.167T>A (p.Phe56Tyr) | |
X | g.137566858T>C | CA414769321 | ZIC3 | c.167T>C (p.Phe56Ser) | |
X | g.137566858T>G | CA414769322 | ZIC3 | c.167T>G (p.Phe56Cys) | gnomAD v4 |
X | g.137566859C>A | CA414769324 | ZIC3 | c.168C>A (p.Phe56Leu) | |
X | g.137566859C>G | CA414769323 | ZIC3 | c.168C>G (p.Phe56Leu) | |
X | g.137566859C>T | CA518857240 | ZIC3 | c.168C>T (p.Phe56=) | |
X | g.137566860A>C | CA414769325 | ZIC3 | c.169A>C (p.Lys57Gln) | |
X | g.137566860A>G | CA414769326 | ZIC3 | c.169A>G (p.Lys57Glu) | |
X | g.137566860A>T | CA414769327 | ZIC3 | c.169A>T (p.Lys57Ter) | |
X | g.137566861A>C | CA414769328 | ZIC3 | c.170A>C (p.Lys57Thr) | |
X | g.137566861A>G | CA414769329 | ZIC3 | c.170A>G (p.Lys57Arg) | |
X | g.137566861A>T | CA414769330 | ZIC3 | c.170A>T (p.Lys57Met) | |
X | g.137566862G>A | CA518857246 | ZIC3 | c.171G>A (p.Lys57=) | gnomAD v4 |
X | g.137566862G>C | CA414769331 | ZIC3 | c.171G>C (p.Lys57Asn) | gnomAD v4 |
X | g.137566862G>T | CA414769332 | ZIC3 | c.171G>T (p.Lys57Asn) | gnomAD v4 |
X | g.137566863C>A | CA414769333 | ZIC3 | c.172C>A (p.Leu58Met) | gnomAD v4 |
X | g.137566863C>G | CA414769334 | ZIC3 | c.172C>G (p.Leu58Val) | |
X | g.137566863C>T | CA518857248 | ZIC3 | c.172C>T (p.Leu58=) | |
X | g.137566864T>A | CA414769335 | ZIC3 | c.173T>A (p.Leu58Gln) | |
X | g.137566864T>C | CA414769336 | ZIC3 | c.173T>C (p.Leu58Pro) | gnomAD v4 |
X | g.137566864T>G | CA414769337 | ZIC3 | c.173T>G (p.Leu58Arg) | |
X | g.137566865G>A | CA518857252 | ZIC3 | c.174G>A (p.Leu58=) | |
X | g.137566865G>C | CA518857255 | ZIC3 | c.174G>C (p.Leu58=) | |
X | g.137566865G>T | CA518857253 | ZIC3 | c.174G>T (p.Leu58=) | gnomAD v4 |
X | g.137566866A>C | CA414769340 | ZIC3 | c.175A>C (p.Ser59Arg) | |
X | g.137566866A>G | CA414769338 | ZIC3 | c.175A>G (p.Ser59Gly) | |
X | g.137566866A>T | CA414769339 | ZIC3 | c.175A>T (p.Ser59Cys) | |
X | g.137566867G>A | CA414769341 | ZIC3 | c.176G>A (p.Ser59Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137566867G>C | CA414769342 | ZIC3 | c.176G>C (p.Ser59Thr) | |
X | g.137566867G= | CA2460727951 | ZIC3 | c.176G= (p.Ser59=) | |
X | g.137566867G>T | CA414769343 | ZIC3 | c.176G>T (p.Ser59Ile) | gnomAD v4 |
X | g.137566868C>A | CA414769344 | ZIC3 | c.177C>A (p.Ser59Arg) | gnomAD v4 |
X | g.137566868C>G | CA414769345 | ZIC3 | c.177C>G (p.Ser59Arg) | |
X | g.137566868C>T | CA518857258 | ZIC3 | c.177C>T (p.Ser59=) | gnomAD v4 |
X | g.137566869C>A | CA414769346 | ZIC3 | c.178C>A (p.Pro60Thr) | |
X | g.137566869C>G | CA414769347 | ZIC3 | c.178C>G (p.Pro60Ala) | |
X | g.137566869C>T | CA414769348 | ZIC3 | c.178C>T (p.Pro60Ser) | |
X | g.137566870C>A | CA414769349 | ZIC3 | c.179C>A (p.Pro60His) | |
X | g.137566870C>G | CA414769350 | ZIC3 | c.179C>G (p.Pro60Arg) | |
X | g.137566870C>T | CA414769351 | ZIC3 | c.179C>T (p.Pro60Leu) | |
X | g.137566871T>A | CA518857266 | ZIC3 | c.180T>A (p.Pro60=) | |
X | g.137566871T>C | CA518857267 | ZIC3 | c.180T>C (p.Pro60=) | |
X | g.137566871T>G | CA518857270 | ZIC3 | c.180T>G (p.Pro60=) | |
X | g.137566872G>A | CA414769354 | ZIC3 | c.181G>A (p.Ala61Thr) | gnomAD v4 |
X | g.137566872G>C | CA414769353 | ZIC3 | c.181G>C (p.Ala61Pro) | |
X | g.137566872G>T | CA414769352 | ZIC3 | c.181G>T (p.Ala61Ser) | gnomAD v4 |
X | g.137566873C>A | CA414769355 | ZIC3 | c.182C>A (p.Ala61Asp) | gnomAD v4 |
X | g.137566873C= | CA2460727952 | ZIC3 | c.182C= (p.Ala61=) | |
X | g.137566873C>G | CA414769357 | ZIC3 | c.182C>G (p.Ala61Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137566873C>T | CA414769356 | ZIC3 | c.182C>T (p.Ala61Val) | gnomAD v4 |
X | g.137566874C>A | CA518857280 | ZIC3 | c.183C>A (p.Ala61=) | dbSNP gnomAD v2 |
X | g.137566874C= | CA2460727953 | ZIC3 | c.183C= (p.Ala61=) | |
X | g.137566874C>G | CA518857279 | ZIC3 | c.183C>G (p.Ala61=) | |
X | g.137566874C>T | CA518857278 | ZIC3 | c.183C>T (p.Ala61=) | gnomAD v4 |
X | g.137566875G>A | CA414769358 | ZIC3 | c.184G>A (p.Ala62Thr) | |
X | g.137566875G>C | CA414769359 | ZIC3 | c.184G>C (p.Ala62Pro) | |
X | g.137566875G>T | CA414769360 | ZIC3 | c.184G>T (p.Ala62Ser) | |
X | g.137566876C>A | CA414769361 | ZIC3 | c.185C>A (p.Ala62Glu) | |
X | g.137566876C= | CA2460727954 | ZIC3 | c.185C= (p.Ala62=) | |
X | g.137566876C>G | CA414769362 | ZIC3 | c.185C>G (p.Ala62Gly) | |
X | g.137566876C>T | CA414769363 | ZIC3 | c.185C>T (p.Ala62Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.137566877G>A | CA518857284 | ZIC3 | c.186G>A (p.Ala62=) | gnomAD v4 |
X | g.137566877G>C | CA518857285 | ZIC3 | c.186G>C (p.Ala62=) | |
X | g.137566877G>T | CA518857288 | ZIC3 | c.186G>T (p.Ala62=) | gnomAD v4 |
X | g.137566878G>A | CA414769364 | ZIC3 | c.187G>A (p.Ala63Thr) | |
X | g.137566878G>C | CA414769365 | ZIC3 | c.187G>C (p.Ala63Pro) | |
X | g.137566878G= | CA2460727955 | ZIC3 | c.187G= (p.Ala63=) | |
X | g.137566878G>T | CA414769366 | ZIC3 | c.187G>T (p.Ala63Ser) | dbSNP gnomAD v4 |
X | g.137566879C>A | CA414769367 | ZIC3 | c.188C>A (p.Ala63Glu) | gnomAD v4 |
X | g.137566879C>G | CA414769368 | ZIC3 | c.188C>G (p.Ala63Gly) | |
X | g.137566879C>T | CA414769369 | ZIC3 | c.188C>T (p.Ala63Val) | gnomAD v4 |
X | g.137566880G>A | CA518857294 | ZIC3 | c.189G>A (p.Ala63=) | gnomAD v4 |
X | g.137566880G>C | CA518857295 | ZIC3 | c.189G>C (p.Ala63=) | |
X | g.137566880G>T | CA518857296 | ZIC3 | c.189G>T (p.Ala63=) | |
X | g.137566881C>A | CA414769372 | ZIC3 | c.190C>A (p.His64Asn) | gnomAD v4 |
X | g.137566881C>G | CA414769370 | ZIC3 | c.190C>G (p.His64Asp) | |
X | g.137566881C>T | CA414769371 | ZIC3 | c.190C>T (p.His64Tyr) | |
X | g.137566882A>C | CA414769373 | ZIC3 | c.191A>C (p.His64Pro) | |
X | g.137566882A>G | CA414769374 | ZIC3 | c.191A>G (p.His64Arg) | |
X | g.137566882A>T | CA414769375 | ZIC3 | c.191A>T (p.His64Leu) | |
X | g.137566883C>A | CA414769376 | ZIC3 | c.192C>A (p.His64Gln) | gnomAD v4 COSMIC COSMIC |
X | g.137566883C= | CA2460727956 | ZIC3 | c.192C= (p.His64=) | |
X | g.137566883C>G | CA414769377 | ZIC3 | c.192C>G (p.His64Gln) | dbSNP gnomAD v3 gnomAD v4 |
X | g.137566883C>T | CA518857304 | ZIC3 | c.192C>T (p.His64=) | gnomAD v4 |
X | g.137566884G>A | CA414769378 | ZIC3 | c.193G>A (p.Asp65Asn) | gnomAD v4 |
X | g.137566884G>C | CA414769379 | ZIC3 | c.193G>C (p.Asp65His) | |
X | g.137566884G>T | CA414769380 | ZIC3 | c.193G>T (p.Asp65Tyr) | |
X | g.137566885A>C | CA414769381 | ZIC3 | c.194A>C (p.Asp65Ala) | |
X | g.137566885A>G | CA414769382 | ZIC3 | c.194A>G (p.Asp65Gly) | |
X | g.137566885A>T | CA414769383 | ZIC3 | c.194A>T (p.Asp65Val) | |
X | g.137566886T>A | CA414769385 | ZIC3 | c.195T>A (p.Asp65Glu) | |
X | g.137566886T>C | CA518857311 | ZIC3 | c.195T>C (p.Asp65=) | |
X | g.137566886T>G | CA414769384 | ZIC3 | c.195T>G (p.Asp65Glu) | |
X | g.137566887C>A | CA414769386 | ZIC3 | c.196C>A (p.Leu66Ile) | |
X | g.137566887C>G | CA414769387 | ZIC3 | c.196C>G (p.Leu66Val) | gnomAD v4 |
X | g.137566887C>T | CA518857314 | ZIC3 | c.196C>T (p.Leu66=) | |
X | g.137566888T>A | CA414769388 | ZIC3 | c.197T>A (p.Leu66Gln) | |
X | g.137566888T>C | CA414769389 | ZIC3 | c.197T>C (p.Leu66Pro) | |
X | g.137566888T>G | CA414769390 | ZIC3 | c.197T>G (p.Leu66Arg) | |
X | g.137566889A= | CA2460727957 | ZIC3 | c.198A= (p.Leu66=) | |
X | g.137566889A>C | CA518857320 | ZIC3 | c.198A>C (p.Leu66=) | |
X | g.137566889A>G | CA518857319 | ZIC3 | c.198A>G (p.Leu66=) | dbSNP gnomAD v4 |
X | g.137566889A>T | CA518857318 | ZIC3 | c.198A>T (p.Leu66=) | |
X | g.137566890T>A | CA414769393 | ZIC3 | c.199T>A (p.Ser67Thr) | |
X | g.137566890T>C | CA414769392 | ZIC3 | c.199T>C (p.Ser67Pro) | |
X | g.137566890T>G | CA414769391 | ZIC3 | c.199T>G (p.Ser67Ala) | |
X | g.137566891C>A | CA414769394 | ZIC3 | c.200C>A (p.Ser67Tyr) | |
X | g.137566891C>G | CA414769395 | ZIC3 | c.200C>G (p.Ser67Cys) | |
X | g.137566891C>T | CA414769396 | ZIC3 | c.200C>T (p.Ser67Phe) | |
X | g.137566892T>A | CA518857328 | ZIC3 | c.201T>A (p.Ser67=) | |
X | g.137566892T>C | CA518857329 | ZIC3 | c.201T>C (p.Ser67=) | |
X | g.137566892T>G | CA518857330 | ZIC3 | c.201T>G (p.Ser67=) | |
X | g.137566893T>A | CA414769397 | ZIC3 | c.202T>A (p.Ser68Thr) | |
X | g.137566893T>C | CA414769398 | ZIC3 | c.202T>C (p.Ser68Pro) | |
X | g.137566893T>G | CA414769399 | ZIC3 | c.202T>G (p.Ser68Ala) | |
X | g.137566894C>A | CA414769400 | ZIC3 | c.203C>A (p.Ser68Ter) | gnomAD v4 |
X | g.137566894C>G | CA414769402 | ZIC3 | c.203C>G (p.Ser68Ter) | |
X | g.137566894C>T | CA414769401 | ZIC3 | c.203C>T (p.Ser68Leu) | |
X | g.137566895A>C | CA518857333 | ZIC3 | c.204A>C (p.Ser68=) | |
X | g.137566895A>G | CA518857335 | ZIC3 | c.204A>G (p.Ser68=) | gnomAD v4 |
X | g.137566895A>T | CA518857336 | ZIC3 | c.204A>T (p.Ser68=) | |
X | g.137566896G>A | CA414769403 | ZIC3 | c.205G>A (p.Gly69Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137566896G>C | CA414769404 | ZIC3 | c.205G>C (p.Gly69Arg) | |
X | g.137566896G= | CA2460727958 | ZIC3 | c.205G= (p.Gly69=) | |
X | g.137566896G>T | CA414769405 | ZIC3 | c.205G>T (p.Gly69Cys) | |
X | g.137566897G>A | CA414769406 | ZIC3 | c.206G>A (p.Gly69Asp) | |
X | g.137566897G>C | CA414769407 | ZIC3 | c.206G>C (p.Gly69Ala) | |
X | g.137566897G>T | CA414769408 | ZIC3 | c.206G>T (p.Gly69Val) | gnomAD v4 |
X | g.137566898C>A | CA518857338 | ZIC3 | c.207C>A (p.Gly69=) | |
X | g.137566898C>G | CA518857340 | ZIC3 | c.207C>G (p.Gly69=) | gnomAD v4 |
X | g.137566898C>T | CA518857342 | ZIC3 | c.207C>T (p.Gly69=) | |
X | g.137566899C>A | CA414769409 | ZIC3 | c.208C>A (p.Gln70Lys) | gnomAD v4 |
X | g.137566899C>G | CA414769410 | ZIC3 | c.208C>G (p.Gln70Glu) | |
X | g.137566899C>T | CA414769411 | ZIC3 | c.208C>T (p.Gln70Ter) | |
X | g.137566900A>C | CA414769412 | ZIC3 | c.209A>C (p.Gln70Pro) | |
X | g.137566900A>G | CA414769413 | ZIC3 | c.209A>G (p.Gln70Arg) | gnomAD v4 |
X | g.137566900A>T | CA414769414 | ZIC3 | c.209A>T (p.Gln70Leu) | gnomAD v4 |
X | g.137566901G>A | CA518857345 | ZIC3 | c.210G>A (p.Gln70=) | |
X | g.137566901G>C | CA414769416 | ZIC3 | c.210G>C (p.Gln70His) | |
X | g.137566901G>T | CA414769415 | ZIC3 | c.210G>T (p.Gln70His) | gnomAD v4 |
X | g.137566902A>C | CA414769417 | ZIC3 | c.211A>C (p.Ser71Arg) | |
X | g.137566902A>G | CA414769419 | ZIC3 | c.211A>G (p.Ser71Gly) | |
X | g.137566902A>T | CA414769418 | ZIC3 | c.211A>T (p.Ser71Cys) | |
X | g.137566903G>A | CA414769420 | ZIC3 | c.212G>A (p.Ser71Asn) | dbSNP gnomAD v4 |
X | g.137566903G>C | CA414769422 | ZIC3 | c.212G>C (p.Ser71Thr) | |
X | g.137566903G= | CA2460727959 | ZIC3 | c.212G= (p.Ser71=) | |
X | g.137566903G>T | CA414769421 | ZIC3 | c.212G>T (p.Ser71Ile) | gnomAD v4 |
X | g.137566904C>A | CA414769423 | ZIC3 | c.213C>A (p.Ser71Arg) | |
X | g.137566904C>G | CA414769424 | ZIC3 | c.213C>G (p.Ser71Arg) | |
X | g.137566904C>T | CA518857352 | ZIC3 | c.213C>T (p.Ser71=) | |
X | g.137566905T>A | CA414769425 | ZIC3 | c.214T>A (p.Ser72Thr) | |
X | g.137566905T>C | CA414769426 | ZIC3 | c.214T>C (p.Ser72Pro) | |
X | g.137566905T>G | CA414769427 | ZIC3 | c.214T>G (p.Ser72Ala) | |
X | g.137566906C>A | CA414769428 | ZIC3 | c.215C>A (p.Ser72Ter) | |
X | g.137566906C>G | CA414769429 | ZIC3 | c.215C>G (p.Ser72Trp) | |
X | g.137566906C>T | CA414769430 | ZIC3 | c.215C>T (p.Ser72Leu) | |
X | g.137566907G>A | CA518857355 | ZIC3 | c.216G>A (p.Ser72=) | |
X | g.137566907G>C | CA10529280 | ZIC3 | c.216G>C (p.Ser72=) | dbSNP ExAC gnomAD v2 |
X | g.137566907G= | CA2460727960 | ZIC3 | c.216G= (p.Ser72=) | |
X | g.137566907G>T | CA518857357 | ZIC3 | c.216G>T (p.Ser72=) | |
X | g.137566908G>A | CA414769431 | ZIC3 | c.217G>A (p.Ala73Thr) | |
X | g.137566908G>C | CA414769432 | ZIC3 | c.217G>C (p.Ala73Pro) | |
X | g.137566908G>T | CA414769433 | ZIC3 | c.217G>T (p.Ala73Ser) | gnomAD v4 |
X | g.137566909C>A | CA414769434 | ZIC3 | c.218C>A (p.Ala73Asp) | |
X | g.137566909C= | CA2460727961 | ZIC3 | c.218C= (p.Ala73=) | |
X | g.137566909C>G | CA414769435 | ZIC3 | c.218C>G (p.Ala73Gly) | |
X | g.137566909C>T | CA414769436 | ZIC3 | c.218C>T (p.Ala73Val) | gnomAD v4 |
X | g.137566910T>A | CA518857363 | ZIC3 | c.219T>A (p.Ala73=) | |
X | g.137566910T>C | CA518857362 | ZIC3 | c.219T>C (p.Ala73=) | |
X | g.137566910T>G | CA518857361 | ZIC3 | c.219T>G (p.Ala73=) | COSMIC COSMIC |
X | g.137566912dup | CA2460727962 | ZIC3 | c.221dup (p.Thr75HisfsTer?) | dbSNP |
X | g.137566911T>A | CA414769437 | ZIC3 | c.220T>A (p.Phe74Ile) | |
X | g.137566911T>C | CA414769439 | ZIC3 | c.220T>C (p.Phe74Leu) | |
X | g.137566911T>G | CA414769438 | ZIC3 | c.220T>G (p.Phe74Val) | |
X | g.137566912T>A | CA414769440 | ZIC3 | c.221T>A (p.Phe74Tyr) | |
X | g.137566912T>C | CA414769441 | ZIC3 | c.221T>C (p.Phe74Ser) | |
X | g.137566912T>G | CA414769442 | ZIC3 | c.221T>G (p.Phe74Cys) | |
X | g.137566913C>A | CA414769443 | ZIC3 | c.222C>A (p.Phe74Leu) | |
X | g.137566913C>G | CA414769444 | ZIC3 | c.222C>G (p.Phe74Leu) | |
X | g.137566913C>T | CA518857368 | ZIC3 | c.222C>T (p.Phe74=) | |
X | g.137566914A>C | CA414769445 | ZIC3 | c.223A>C (p.Thr75Pro) | |
X | g.137566914A>G | CA414769446 | ZIC3 | c.223A>G (p.Thr75Ala) | gnomAD v4 |
X | g.137566914A>T | CA414769447 | ZIC3 | c.223A>T (p.Thr75Ser) | |
X | g.137566915C>A | CA10529281 | ZIC3 | c.224C>A (p.Thr75Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.137566915C= | CA2460727963 | ZIC3 | c.224C= (p.Thr75=) | |
X | g.137566915C>G | CA414769448 | ZIC3 | c.224C>G (p.Thr75Arg) | |
X | g.137566915C>T | CA414769449 | ZIC3 | c.224C>T (p.Thr75Met) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137566916G>A | CA518857373 | ZIC3 | c.225G>A (p.Thr75=) | COSMIC COSMIC |
X | g.137566916G>C | CA518857375 | ZIC3 | c.225G>C (p.Thr75=) | |
X | g.137566916G>T | CA518857376 | ZIC3 | c.225G>T (p.Thr75=) | |
X | g.137566917C>A | CA414769450 | ZIC3 | c.226C>A (p.Pro76Thr) | |
X | g.137566917C>G | CA414769452 | ZIC3 | c.226C>G (p.Pro76Ala) | |
X | g.137566917C>T | CA414769451 | ZIC3 | c.226C>T (p.Pro76Ser) | |
X | g.137566918C>A | CA414769453 | ZIC3 | c.227C>A (p.Pro76Gln) | |
X | g.137566918C= | CA2460727964 | ZIC3 | c.227C= (p.Pro76=) | |
X | g.137566918C>G | CA414769454 | ZIC3 | c.227C>G (p.Pro76Arg) | |
X | g.137566918C>T | CA414769455 | ZIC3 | c.227C>T (p.Pro76Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137566919G>A | CA518857382 | ZIC3 | c.228G>A (p.Pro76=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137566919G>C | CA518857383 | ZIC3 | c.228G>C (p.Pro76=) | |
X | g.137566919G= | CA2460727965 | ZIC3 | c.228G= (p.Pro76=) | |
X | g.137566919G>T | CA518857384 | ZIC3 | c.228G>T (p.Pro76=) | gnomAD v4 |
X | g.137566920C>A | CA414769456 | ZIC3 | c.229C>A (p.Gln77Lys) | |
X | g.137566920C= | CA2460727966 | ZIC3 | c.229C= (p.Gln77=) | |
X | g.137566920C>G | CA414769457 | ZIC3 | c.229C>G (p.Gln77Glu) | dbSNP |
X | g.137566920C>T | CA414769458 | ZIC3 | c.229C>T (p.Gln77Ter) | |
X | g.137566921A>C | CA414769459 | ZIC3 | c.230A>C (p.Gln77Pro) | |
X | g.137566921A>G | CA414769460 | ZIC3 | c.230A>G (p.Gln77Arg) | gnomAD v4 |
X | g.137566921A>T | CA414769461 | ZIC3 | c.230A>T (p.Gln77Leu) | |
X | g.137566922G>A | CA518857389 | ZIC3 | c.231G>A (p.Gln77=) | gnomAD v4 |
X | g.137566922G>C | CA414769462 | ZIC3 | c.231G>C (p.Gln77His) | |
X | g.137566922G>T | CA414769463 | ZIC3 | c.231G>T (p.Gln77His) | gnomAD v4 |
X | g.137566923G>A | CA414769466 | ZIC3 | c.232G>A (p.Gly78Ser) | dbSNP gnomAD v4 |
X | g.137566923G>C | CA414769465 | ZIC3 | c.232G>C (p.Gly78Arg) | |
X | g.137566923G= | CA2460727967 | ZIC3 | c.232G= (p.Gly78=) | |
X | g.137566923G>T | CA414769464 | ZIC3 | c.232G>T (p.Gly78Cys) | |
X | g.137566924G>A | CA414769467 | ZIC3 | c.233G>A (p.Gly78Asp) | |
X | g.137566924G>C | CA414769468 | ZIC3 | c.233G>C (p.Gly78Ala) | |
X | g.137566924G>T | CA414769469 | ZIC3 | c.233G>T (p.Gly78Val) | dbSNP gnomAD v4 |
X | g.137566925T>A | CA518857396 | ZIC3 | c.234T>A (p.Gly78=) | gnomAD v4 |
X | g.137566925T>C | CA518857399 | ZIC3 | c.234T>C (p.Gly78=) | |
X | g.137566925T>G | CA518857397 | ZIC3 | c.234T>G (p.Gly78=) | |
X | g.137566926T>A | CA414769470 | ZIC3 | c.235T>A (p.Ser79Thr) | |
X | g.137566926T>C | CA414769471 | ZIC3 | c.235T>C (p.Ser79Pro) | |
X | g.137566926T>G | CA414769472 | ZIC3 | c.235T>G (p.Ser79Ala) | |
X | g.137566927C>A | CA414769473 | ZIC3 | c.236C>A (p.Ser79Ter) | |
X | g.137566927C= | CA2460727968 | ZIC3 | c.236C= (p.Ser79=) | |
X | g.137566927C>G | CA414769474 | ZIC3 | c.236C>G (p.Ser79Trp) | |
X | g.137566927C>T | CA414769475 | ZIC3 | c.236C>T (p.Ser79Leu) | dbSNP gnomAD v4 |
X | g.137566928G>A | CA518857172 | ZIC3 | c.237G>A (p.Ser79=) | dbSNP gnomAD v2 |
X | g.137566928G>C | CA518857173 | ZIC3 | c.237G>C (p.Ser79=) | |
X | g.137566928G= | CA2460727969 | ZIC3 | c.237G= (p.Ser79=) | |
X | g.137566928G>T | CA518857174 | ZIC3 | c.237G>T (p.Ser79=) | gnomAD v4 |
X | g.137566930dup | CA2694828741 | ZIC3 | c.239dup (p.Tyr81LeufsTer?) | gnomAD v4 |
X | g.137566929G>A | CA414769476 | ZIC3 | c.238G>A (p.Gly80Ser) | |
X | g.137566929G>C | CA414769477 | ZIC3 | c.238G>C (p.Gly80Arg) | |
X | g.137566929G>T | CA414769478 | ZIC3 | c.238G>T (p.Gly80Cys) | |
X | g.137566930G>A | CA414769481 | ZIC3 | c.239G>A (p.Gly80Asp) | |
X | g.137566930G>C | CA414769480 | ZIC3 | c.239G>C (p.Gly80Ala) | |
X | g.137566930G= | CA2460727970 | ZIC3 | c.239G= (p.Gly80=) | |
X | g.137566930G>T | CA414769479 | ZIC3 | c.239G>T (p.Gly80Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137566931C>A | CA518857185 | ZIC3 | c.240C>A (p.Gly80=) | gnomAD v4 |
X | g.137566931C>G | CA518857186 | ZIC3 | c.240C>G (p.Gly80=) | gnomAD v4 |
X | g.137566931C>T | CA518857188 | ZIC3 | c.240C>T (p.Gly80=) | |
X | g.137566932T>A | CA414769482 | ZIC3 | c.241T>A (p.Tyr81Asn) | |
X | g.137566932T>C | CA414769484 | ZIC3 | c.241T>C (p.Tyr81His) | |
X | g.137566932T>G | CA414769483 | ZIC3 | c.241T>G (p.Tyr81Asp) | |
X | g.137566932_137566933dup | CA2695237708 | ZIC3 | c.241_242dup (p.Ala82ThrfsTer?) | |
X | g.137566933A>C | CA414769485 | ZIC3 | c.242A>C (p.Tyr81Ser) | |
X | g.137566933A>G | CA414769486 | ZIC3 | c.242A>G (p.Tyr81Cys) | |
X | g.137566933A>T | CA414769487 | ZIC3 | c.242A>T (p.Tyr81Phe) | |
X | g.137566934C>A | CA414769488 | ZIC3 | c.243C>A (p.Tyr81Ter) | |
X | g.137566934C>G | CA414769489 | ZIC3 | c.243C>G (p.Tyr81Ter) | |
X | g.137566934C>T | CA518857196 | ZIC3 | c.243C>T (p.Tyr81=) | gnomAD v4 COSMIC COSMIC |
X | g.137566935G>A | CA414769490 | ZIC3 | c.244G>A (p.Ala82Thr) | gnomAD v4 COSMIC |
X | g.137566935G>C | CA414769491 | ZIC3 | c.244G>C (p.Ala82Pro) | gnomAD v4 |
X | g.137566935G>T | CA414769492 | ZIC3 | c.244G>T (p.Ala82Ser) | gnomAD v4 |
X | g.137566936C>A | CA414769493 | ZIC3 | c.245C>A (p.Ala82Asp) | COSMIC |
X | g.137566936C= | CA2460727971 | ZIC3 | c.245C= (p.Ala82=) | |
X | g.137566936C>G | CA414769494 | ZIC3 | c.245C>G (p.Ala82Gly) | |
X | g.137566936C>T | CA414769495 | ZIC3 | c.245C>T (p.Ala82Val) | dbSNP |
X | g.137566937C>A | CA518857201 | ZIC3 | c.246C>A (p.Ala82=) | |
X | g.137566937C>G | CA518857202 | ZIC3 | c.246C>G (p.Ala82=) | |
X | g.137566937C>T | CA518857203 | ZIC3 | c.246C>T (p.Ala82=) | |
X | g.137566938A>C | CA414769498 | ZIC3 | c.247A>C (p.Asn83His) | |
X | g.137566938A>G | CA414769497 | ZIC3 | c.247A>G (p.Asn83Asp) | |
X | g.137566938A>T | CA414769496 | ZIC3 | c.247A>T (p.Asn83Tyr) | |
X | g.137566939A>C | CA414769499 | ZIC3 | c.248A>C (p.Asn83Thr) | |
X | g.137566939A>G | CA414769500 | ZIC3 | c.248A>G (p.Asn83Ser) | |
X | g.137566939A>T | CA414769501 | ZIC3 | c.248A>T (p.Asn83Ile) | |
X | g.137566940C>A | CA414769502 | ZIC3 | c.249C>A (p.Asn83Lys) | |
X | g.137566940C= | CA2460727972 | ZIC3 | c.249C= (p.Asn83=) | |
X | g.137566940C>G | CA414769503 | ZIC3 | c.249C>G (p.Asn83Lys) | |
X | g.137566940C>T | CA518857212 | ZIC3 | c.249C>T (p.Asn83=) | dbSNP gnomAD v2 COSMIC COSMIC |
X | g.137566941G>A | CA414769504 | ZIC3 | c.250G>A (p.Ala84Thr) | |
X | g.137566941G>C | CA414769505 | ZIC3 | c.250G>C (p.Ala84Pro) | gnomAD v4 |
X | g.137566941G>T | CA414769506 | ZIC3 | c.250G>T (p.Ala84Ser) | |
X | g.137566942C>A | CA414769507 | ZIC3 | c.251C>A (p.Ala84Asp) | gnomAD v4 |
X | g.137566942C= | CA2460727973 | ZIC3 | c.251C= (p.Ala84=) | |
X | g.137566942C>G | CA336368776 | ZIC3 | c.251C>G (p.Ala84Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.137566942C>T | CA414769508 | ZIC3 | c.251C>T (p.Ala84Val) | gnomAD v4 |
X | g.137566943C>A | CA518857219 | ZIC3 | c.252C>A (p.Ala84=) | |
X | g.137566943C= | CA2460727974 | ZIC3 | c.252C= (p.Ala84=) | |
X | g.137566943C>G | CA518857221 | ZIC3 | c.252C>G (p.Ala84=) | |
X | g.137566943C>T | CA336368778 | ZIC3 | c.252C>T (p.Ala84=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.137566944C>A | CA414769510 | ZIC3 | c.253C>A (p.Leu85Met) | gnomAD v4 |
X | g.137566944C= | CA2460727975 | ZIC3 | c.253C= (p.Leu85=) | |
X | g.137566944C>G | CA414769509 | ZIC3 | c.253C>G (p.Leu85Val) | dbSNP |
X | g.137566944C>T | CA518857223 | ZIC3 | c.253C>T (p.Leu85=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.137566945T>A | CA414769511 | ZIC3 | c.254T>A (p.Leu85Gln) | dbSNP |
X | g.137566945T>C | CA414769512 | ZIC3 | c.254T>C (p.Leu85Pro) | |
X | g.137566945T>G | CA414769513 | ZIC3 | c.254T>G (p.Leu85Arg) | |
X | g.137566945T= | CA2460727976 | ZIC3 | c.254T= (p.Leu85=) | |
X | g.137566946G>A | CA518857229 | ZIC3 | c.255G>A (p.Leu85=) | |
X | g.137566946G>C | CA518857230 | ZIC3 | c.255G>C (p.Leu85=) | |
X | g.137566946G>T | CA518857232 | ZIC3 | c.255G>T (p.Leu85=) | |
X | g.137566947G>A | CA414769514 | ZIC3 | c.256G>A (p.Gly86Ser) | gnomAD v4 |
X | g.137566947G>C | CA414769515 | ZIC3 | c.256G>C (p.Gly86Arg) | |
X | g.137566947G>T | CA414769516 | ZIC3 | c.256G>T (p.Gly86Cys) | gnomAD v4 |
X | g.137566948G>A | CA414769517 | ZIC3 | c.257G>A (p.Gly86Asp) | dbSNP |
X | g.137566948G>C | CA414769518 | ZIC3 | c.257G>C (p.Gly86Ala) | |
X | g.137566948G>T | CA414769519 | ZIC3 | c.257G>T (p.Gly86Val) | gnomAD v4 |
X | g.137566948_137566960delinsGCCACCATCACCA | CA2460727977 | ZIC3 | c.257_269delinsGCCACCATCACCA (p.Gly86=) | |
X | g.137566949C>A | CA518857241 | ZIC3 | c.258C>A (p.Gly86=) | gnomAD v4 |
X | g.137566949C= | CA2460727978 | ZIC3 | c.258C= (p.Gly86=) | |
X | g.137566949C>G | CA518857242 | ZIC3 | c.258C>G (p.Gly86=) | |
X | g.137566949C>T | CA518857243 | ZIC3 | c.258C>T (p.Gly86=) | gnomAD v4 |
X | g.137566955_137566963del | CA2579713179 | ZIC3 | c.264_272del (p.His89_His91del) | |
X | g.137566961_137566972del | CA645125579 | ZIC3 | c.270_281del (p.His91_His94del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.137566950C>A | CA414769520 | ZIC3 | c.259C>A (p.His87Asn) | |
X | g.137566950C>G | CA414769521 | ZIC3 | c.259C>G (p.His87Asp) | |
X | g.137566950C>T | CA414769522 | ZIC3 | c.259C>T (p.His87Tyr) | gnomAD v4 |
X | g.137566955_137566960dup | CA871972522 | ZIC3 | c.264_269dup (p.His90_His91insHisHis) | dbSNP |
X | g.137566951A>C | CA414769524 | ZIC3 | c.260A>C (p.His87Pro) | |
X | g.137566951A>G | CA414769525 | ZIC3 | c.260A>G (p.His87Arg) | |
X | g.137566951A>T | CA414769523 | ZIC3 | c.260A>T (p.His87Leu) | |
X | g.137566952C>A | CA414769526 | ZIC3 | c.261C>A (p.His87Gln) | |
X | g.137566952C>G | CA414769527 | ZIC3 | c.261C>G (p.His87Gln) | |
X | g.137566952C>T | CA518857247 | ZIC3 | c.261C>T (p.His87=) | |
X | g.137566953C>A | CA414769528 | ZIC3 | c.262C>A (p.His88Asn) | |
X | g.137566953C>G | CA414769529 | ZIC3 | c.262C>G (p.His88Asp) | |
X | g.137566953C>T | CA414769530 | ZIC3 | c.262C>T (p.His88Tyr) | |
X | g.137566954A>C | CA414769533 | ZIC3 | c.263A>C (p.His88Pro) | |
X | g.137566954A>G | CA414769531 | ZIC3 | c.263A>G (p.His88Arg) | |
X | g.137566954A>T | CA414769532 | ZIC3 | c.263A>T (p.His88Leu) | |
X | g.137566955T>A | CA414769534 | ZIC3 | c.264T>A (p.His88Gln) | gnomAD v4 |
X | g.137566955T>C | CA518857257 | ZIC3 | c.264T>C (p.His88=) | |
X | g.137566955T>G | CA414769535 | ZIC3 | c.264T>G (p.His88Gln) | |
X | g.137566955_137566958delinsTCAC | CA2460727979 | ZIC3 | c.264_267delinsTCAC (p.His88=) | |
X | g.137566956C>A | CA414769536 | ZIC3 | c.265C>A (p.His89Asn) | |
X | g.137566956C>G | CA414769537 | ZIC3 | c.265C>G (p.His89Asp) | |
X | g.137566956C>T | CA414769538 | ZIC3 | c.265C>T (p.His89Tyr) | |
X | g.137566964_137566966del | CA645125580 | ZIC3 | c.273_275del (p.His92del) | dbSNP gnomAD v2 |
X | g.137566957A>C | CA414769541 | ZIC3 | c.266A>C (p.His89Pro) | |
X | g.137566957A>G | CA414769540 | ZIC3 | c.266A>G (p.His89Arg) | gnomAD v4 |
X | g.137566957A>T | CA414769539 | ZIC3 | c.266A>T (p.His89Leu) |