OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.137567284_137567300del | CA913190689 | ZIC3 | c.593_609del (p.Pro198GlnfsTer15) | ClinVar dbSNP |
| X | g.137567286_137567301del | CA2695237710 | ZIC3 | c.595_610del (p.Tyr199AlafsTer19) | |
| X | g.137567298_137567299delinsGC | CA2460728097 | ZIC3 | c.607_608delinsGC (p.Ala203=) | |
| X | g.137567299C>A | CA414770286 | ZIC3 | c.608C>A (p.Ala203Asp) | |
| X | g.137567299C= | CA2460728098 | ZIC3 | c.608C= (p.Ala203=) | |
| X | g.137567299C>G | CA414770287 | ZIC3 | c.608C>G (p.Ala203Gly) | dbSNP |
| X | g.137567299C>T | CA414770288 | ZIC3 | c.608C>T (p.Ala203Val) | |
| X | g.137567300del | CA645125587 | ZIC3 | c.609del (p.Ser204AlafsTer19) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567300C>A | CA518857499 | ZIC3 | c.609C>A (p.Ala203=) | |
| X | g.137567300C>G | CA518857501 | ZIC3 | c.609C>G (p.Ala203=) | gnomAD v4 |
| X | g.137567300C>T | CA518857502 | ZIC3 | c.609C>T (p.Ala203=) | |
| X | g.137567301A>C | CA414770289 | ZIC3 | c.610A>C (p.Ser204Arg) | |
| X | g.137567301A>G | CA414770291 | ZIC3 | c.610A>G (p.Ser204Gly) | |
| X | g.137567301A>T | CA414770290 | ZIC3 | c.610A>T (p.Ser204Cys) | |
| X | g.137567302G>A | CA414770292 | ZIC3 | c.611G>A (p.Ser204Asn) | COSMIC COSMIC |
| X | g.137567302G>C | CA414770293 | ZIC3 | c.611G>C (p.Ser204Thr) | |
| X | g.137567302G>T | CA414770294 | ZIC3 | c.611G>T (p.Ser204Ile) | |
| X | g.137567303C>A | CA414770295 | ZIC3 | c.612C>A (p.Ser204Arg) | |
| X | g.137567303C>G | CA414770296 | ZIC3 | c.612C>G (p.Ser204Arg) | |
| X | g.137567303C>T | CA518857506 | ZIC3 | c.612C>T (p.Ser204=) | |
| X | g.137567304C>A | CA414770297 | ZIC3 | c.613C>A (p.Pro205Thr) | |
| X | g.137567304C>G | CA414770298 | ZIC3 | c.613C>G (p.Pro205Ala) | |
| X | g.137567304C>T | CA414770299 | ZIC3 | c.613C>T (p.Pro205Ser) | |
| X | g.137567305C>A | CA414770300 | ZIC3 | c.614C>A (p.Pro205Gln) | |
| X | g.137567305C= | CA2460728099 | ZIC3 | c.614C= (p.Pro205=) | |
| X | g.137567305C>G | CA10529309 | ZIC3 | c.614C>G (p.Pro205Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567305C>T | CA414770301 | ZIC3 | c.614C>T (p.Pro205Leu) | |
| X | g.137567306G>A | CA518857508 | ZIC3 | c.615G>A (p.Pro205=) | |
| X | g.137567306G>C | CA518857510 | ZIC3 | c.615G>C (p.Pro205=) | |
| X | g.137567306G>T | CA518857512 | ZIC3 | c.615G>T (p.Pro205=) | |
| X | g.137567307C>A | CA414770302 | ZIC3 | c.616C>A (p.Arg206Ser) | gnomAD v4 |
| X | g.137567307C>G | CA414770304 | ZIC3 | c.616C>G (p.Arg206Gly) | |
| X | g.137567307C>T | CA414770303 | ZIC3 | c.616C>T (p.Arg206Cys) | gnomAD v4 |
| X | g.137567308G>A | CA414770305 | ZIC3 | c.617G>A (p.Arg206His) | dbSNP gnomAD v4 |
| X | g.137567308G>C | CA414770306 | ZIC3 | c.617G>C (p.Arg206Pro) | gnomAD v4 |
| X | g.137567308G>T | CA414770307 | ZIC3 | c.617G>T (p.Arg206Leu) | gnomAD v4 |
| X | g.137567309C>A | CA518857514 | ZIC3 | c.618C>A (p.Arg206=) | |
| X | g.137567309C>G | CA518857516 | ZIC3 | c.618C>G (p.Arg206=) | |
| X | g.137567309C>T | CA518857515 | ZIC3 | c.618C>T (p.Arg206=) | |
| X | g.137567309_137567310insCG | CA2695237711 | ZIC3 | c.618_619insCG (p.Thr207ArgfsTer17) | |
| X | g.137567310A>C | CA414770308 | ZIC3 | c.619A>C (p.Thr207Pro) | |
| X | g.137567310A>G | CA414770309 | ZIC3 | c.619A>G (p.Thr207Ala) | |
| X | g.137567310A>T | CA414770310 | ZIC3 | c.619A>T (p.Thr207Ser) | |
| X | g.137567311C>A | CA414770311 | ZIC3 | c.620C>A (p.Thr207Lys) | |
| X | g.137567311C>G | CA414770312 | ZIC3 | c.620C>G (p.Thr207Arg) | gnomAD v4 |
| X | g.137567311C>T | CA414770313 | ZIC3 | c.620C>T (p.Thr207Met) | COSMIC COSMIC |
| X | g.137567312G>A | CA518857522 | ZIC3 | c.621G>A (p.Thr207=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567312G>C | CA518857524 | ZIC3 | c.621G>C (p.Thr207=) | gnomAD v4 |
| X | g.137567312G= | CA2460728100 | ZIC3 | c.621G= (p.Thr207=) | |
| X | g.137567312G>T | CA518857526 | ZIC3 | c.621G>T (p.Thr207=) | |
| X | g.137567313G>A | CA414770314 | ZIC3 | c.622G>A (p.Asp208Asn) | |
| X | g.137567313G>C | CA414770315 | ZIC3 | c.622G>C (p.Asp208His) | |
| X | g.137567313G>T | CA414770316 | ZIC3 | c.622G>T (p.Asp208Tyr) | |
| X | g.137567314A= | CA2460728101 | ZIC3 | c.623A= (p.Asp208=) | |
| X | g.137567314A>C | CA414770319 | ZIC3 | c.623A>C (p.Asp208Ala) | dbSNP |
| X | g.137567314A>G | CA414770317 | ZIC3 | c.623A>G (p.Asp208Gly) | COSMIC COSMIC |
| X | g.137567314A>T | CA414770318 | ZIC3 | c.623A>T (p.Asp208Val) | |
| X | g.137567315C>A | CA414770320 | ZIC3 | c.624C>A (p.Asp208Glu) | |
| X | g.137567315C>G | CA414770321 | ZIC3 | c.624C>G (p.Asp208Glu) | |
| X | g.137567315C>T | CA518857530 | ZIC3 | c.624C>T (p.Asp208=) | |
| X | g.137567318dup | CA2695197185 | ZIC3 | c.627dup (p.Tyr210LeufsTer9) | ClinVar |
| X | g.137567316C>A | CA414770322 | ZIC3 | c.625C>A (p.Pro209Thr) | |
| X | g.137567316C= | CA2460728102 | ZIC3 | c.625C= (p.Pro209=) | |
| X | g.137567316C>G | CA414770323 | ZIC3 | c.625C>G (p.Pro209Ala) | |
| X | g.137567316C>T | CA336368831 | ZIC3 | c.625C>T (p.Pro209Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567317C>A | CA414770324 | ZIC3 | c.626C>A (p.Pro209His) | |
| X | g.137567317C>G | CA414770325 | ZIC3 | c.626C>G (p.Pro209Arg) | |
| X | g.137567317C>T | CA414770326 | ZIC3 | c.626C>T (p.Pro209Leu) | |
| X | g.137567318C>A | CA518857536 | ZIC3 | c.627C>A (p.Pro209=) | |
| X | g.137567318C= | CA2460728103 | ZIC3 | c.627C= (p.Pro209=) | |
| X | g.137567318C>G | CA518857534 | ZIC3 | c.627C>G (p.Pro209=) | |
| X | g.137567318C>T | CA518857535 | ZIC3 | c.627C>T (p.Pro209=) | dbSNP |
| X | g.137567319T>A | CA414770327 | ZIC3 | c.628T>A (p.Tyr210Asn) | |
| X | g.137567319T>C | CA414770328 | ZIC3 | c.628T>C (p.Tyr210His) | |
| X | g.137567319T>G | CA414770329 | ZIC3 | c.628T>G (p.Tyr210Asp) | |
| X | g.137567320A= | CA2460728104 | ZIC3 | c.629A= (p.Tyr210=) | |
| X | g.137567320A>C | CA414770331 | ZIC3 | c.629A>C (p.Tyr210Ser) | |
| X | g.137567320A>G | CA414770332 | ZIC3 | c.629A>G (p.Tyr210Cys) | dbSNP |
| X | g.137567320A>T | CA414770330 | ZIC3 | c.629A>T (p.Tyr210Phe) | |
| X | g.137567321C>A | CA414770334 | ZIC3 | c.630C>A (p.Tyr210Ter) | |
| X | g.137567321C= | CA2460728105 | ZIC3 | c.630C= (p.Tyr210=) | |
| X | g.137567321C>G | CA414770333 | ZIC3 | c.630C>G (p.Tyr210Ter) | |
| X | g.137567321C>T | CA10529310 | ZIC3 | c.630C>T (p.Tyr210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567322G>A | CA414770335 | ZIC3 | c.631G>A (p.Ala211Thr) | ClinVar |
| X | g.137567322G>C | CA414770336 | ZIC3 | c.631G>C (p.Ala211Pro) | |
| X | g.137567322G>T | CA414770337 | ZIC3 | c.631G>T (p.Ala211Ser) | |
| X | g.137567323C>A | CA414770338 | ZIC3 | c.632C>A (p.Ala211Glu) | |
| X | g.137567323C= | CA2460728106 | ZIC3 | c.632C= (p.Ala211=) | |
| X | g.137567323C>G | CA414770339 | ZIC3 | c.632C>G (p.Ala211Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567323C>T | CA414770340 | ZIC3 | c.632C>T (p.Ala211Val) | COSMIC |
| X | g.137567324G>A | CA518857545 | ZIC3 | c.633G>A (p.Ala211=) | gnomAD v4 |
| X | g.137567324G>C | CA518857544 | ZIC3 | c.633G>C (p.Ala211=) | gnomAD v4 |
| X | g.137567324G>T | CA518857547 | ZIC3 | c.633G>T (p.Ala211=) | |
| X | g.137567325G>A | CA414770341 | ZIC3 | c.634G>A (p.Ala212Thr) | gnomAD v4 |
| X | g.137567325G>C | CA414770342 | ZIC3 | c.634G>C (p.Ala212Pro) | |
| X | g.137567325G>T | CA414770343 | ZIC3 | c.634G>T (p.Ala212Ser) | |
| X | g.137567326C>A | CA414770346 | ZIC3 | c.635C>A (p.Ala212Asp) | |
| X | g.137567326C>G | CA414770345 | ZIC3 | c.635C>G (p.Ala212Gly) | |
| X | g.137567326C>T | CA414770344 | ZIC3 | c.635C>T (p.Ala212Val) | |
| X | g.137567327C>A | CA518857552 | ZIC3 | c.636C>A (p.Ala212=) | |
| X | g.137567327C>G | CA518857551 | ZIC3 | c.636C>G (p.Ala212=) | |
| X | g.137567327C>T | CA518857550 | ZIC3 | c.636C>T (p.Ala212=) | COSMIC COSMIC |
| X | g.137567328G>A | CA414770347 | ZIC3 | c.637G>A (p.Gly213Ser) | |
| X | g.137567328G>C | CA414770348 | ZIC3 | c.637G>C (p.Gly213Arg) | dbSNP |
| X | g.137567328G= | CA2460728107 | ZIC3 | c.637G= (p.Gly213=) | |
| X | g.137567328G>T | CA414770349 | ZIC3 | c.637G>T (p.Gly213Cys) | |
| X | g.137567329G>A | CA414770350 | ZIC3 | c.638G>A (p.Gly213Asp) | COSMIC COSMIC |
| X | g.137567329G>C | CA414770351 | ZIC3 | c.638G>C (p.Gly213Ala) | |
| X | g.137567329G>T | CA414770352 | ZIC3 | c.638G>T (p.Gly213Val) | |
| X | g.137567330C>A | CA10529311 | ZIC3 | c.639C>A (p.Gly213=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.137567330C= | CA2460728108 | ZIC3 | c.639C= (p.Gly213=) | |
| X | g.137567330C>G | CA518857558 | ZIC3 | c.639C>G (p.Gly213=) | |
| X | g.137567330C>T | CA518857557 | ZIC3 | c.639C>T (p.Gly213=) | |
| X | g.137567331G>A | CA414770353 | ZIC3 | c.640G>A (p.Ala214Thr) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.137567331G>C | CA414770354 | ZIC3 | c.640G>C (p.Ala214Pro) | |
| X | g.137567331G= | CA2460728109 | ZIC3 | c.640G= (p.Ala214=) | |
| X | g.137567331G>T | CA414770355 | ZIC3 | c.640G>T (p.Ala214Ser) | |
| X | g.137567332C>A | CA414770356 | ZIC3 | c.641C>A (p.Ala214Asp) | dbSNP |
| X | g.137567332C= | CA2460728110 | ZIC3 | c.641C= (p.Ala214=) | |
| X | g.137567332C>G | CA414770357 | ZIC3 | c.641C>G (p.Ala214Gly) | |
| X | g.137567332C>T | CA10529312 | ZIC3 | c.641C>T (p.Ala214Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567333T>A | CA518857563 | ZIC3 | c.642T>A (p.Ala214=) | |
| X | g.137567333T>C | CA518857564 | ZIC3 | c.642T>C (p.Ala214=) | COSMIC COSMIC |
| X | g.137567333T>G | CA518857565 | ZIC3 | c.642T>G (p.Ala214=) | |
| X | g.137567334C>A | CA414770359 | ZIC3 | c.643C>A (p.Gln215Lys) | |
| X | g.137567334C>G | CA414770360 | ZIC3 | c.643C>G (p.Gln215Glu) | |
| X | g.137567334C>T | CA414770358 | ZIC3 | c.643C>T (p.Gln215Ter) | COSMIC |
| X | g.137567335A= | CA2460728111 | ZIC3 | c.644A= (p.Gln215=) | |
| X | g.137567335A>C | CA414770361 | ZIC3 | c.644A>C (p.Gln215Pro) | gnomAD v4 |
| X | g.137567335A>G | CA336368835 | ZIC3 | c.644A>G (p.Gln215Arg) | dbSNP |
| X | g.137567335A>T | CA414770362 | ZIC3 | c.644A>T (p.Gln215Leu) | |
| X | g.137567336G>A | CA518857566 | ZIC3 | c.645G>A (p.Gln215=) | |
| X | g.137567336G>C | CA414770363 | ZIC3 | c.645G>C (p.Gln215His) | |
| X | g.137567336G>T | CA414770364 | ZIC3 | c.645G>T (p.Gln215His) | |
| X | g.137567337T>A | CA414770365 | ZIC3 | c.646T>A (p.Phe216Ile) | |
| X | g.137567337T>C | CA414770366 | ZIC3 | c.646T>C (p.Phe216Leu) | |
| X | g.137567337T>G | CA414770367 | ZIC3 | c.646T>G (p.Phe216Val) | |
| X | g.137567338T>A | CA414770368 | ZIC3 | c.647T>A (p.Phe216Tyr) | |
| X | g.137567338T>C | CA414770369 | ZIC3 | c.647T>C (p.Phe216Ser) | |
| X | g.137567338T>G | CA414770370 | ZIC3 | c.647T>G (p.Phe216Cys) | |
| X | g.137567339T>A | CA414770371 | ZIC3 | c.648T>A (p.Phe216Leu) | |
| X | g.137567339T>C | CA518857571 | ZIC3 | c.648T>C (p.Phe216=) | |
| X | g.137567339T>G | CA414770372 | ZIC3 | c.648T>G (p.Phe216Leu) | gnomAD v4 |
| X | g.137567340C>A | CA414770374 | ZIC3 | c.649C>A (p.Pro217Thr) | |
| X | g.137567340C= | CA2460728112 | ZIC3 | c.649C= (p.Pro217=) | |
| X | g.137567340C>G | CA121446 | ZIC3 | c.649C>G (p.Pro217Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.137567340C>T | CA414770373 | ZIC3 | c.649C>T (p.Pro217Ser) | gnomAD v4 |
| X | g.137567341C>A | CA414770375 | ZIC3 | c.650C>A (p.Pro217His) | |
| X | g.137567341C= | CA2460728113 | ZIC3 | c.650C= (p.Pro217=) | |
| X | g.137567341C>G | CA414770376 | ZIC3 | c.650C>G (p.Pro217Arg) | dbSNP COSMIC COSMIC |
| X | g.137567341C>T | CA414770377 | ZIC3 | c.650C>T (p.Pro217Leu) | gnomAD v4 |
| X | g.137567342T>A | CA518857575 | ZIC3 | c.651T>A (p.Pro217=) | |
| X | g.137567342T>C | CA10529313 | ZIC3 | c.651T>C (p.Pro217=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567342T>G | CA518857576 | ZIC3 | c.651T>G (p.Pro217=) | |
| X | g.137567342T= | CA2460728114 | ZIC3 | c.651T= (p.Pro217=) | |
| X | g.137567343A>C | CA414770378 | ZIC3 | c.652A>C (p.Asn218His) | |
| X | g.137567343A>G | CA414770379 | ZIC3 | c.652A>G (p.Asn218Asp) | |
| X | g.137567343A>T | CA414770380 | ZIC3 | c.652A>T (p.Asn218Tyr) | |
| X | g.137567344A= | CA2460728115 | ZIC3 | c.653A= (p.Asn218=) | |
| X | g.137567344A>C | CA414770381 | ZIC3 | c.653A>C (p.Asn218Thr) | gnomAD v4 |
| X | g.137567344A>G | CA414770383 | ZIC3 | c.653A>G (p.Asn218Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.137567344A>T | CA414770382 | ZIC3 | c.653A>T (p.Asn218Ile) | |
| X | g.137567345C>A | CA414770384 | ZIC3 | c.654C>A (p.Asn218Lys) | |
| X | g.137567345C= | CA2460728116 | ZIC3 | c.654C= (p.Asn218=) | |
| X | g.137567345C>G | CA414770385 | ZIC3 | c.654C>G (p.Asn218Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567345C>T | CA518857579 | ZIC3 | c.654C>T (p.Asn218=) | |
| X | g.137567346T>A | CA414770386 | ZIC3 | c.655T>A (p.Tyr219Asn) | |
| X | g.137567346T>C | CA414770387 | ZIC3 | c.655T>C (p.Tyr219His) | |
| X | g.137567346T>G | CA414770388 | ZIC3 | c.655T>G (p.Tyr219Asp) | |
| X | g.137567347A>C | CA414770390 | ZIC3 | c.656A>C (p.Tyr219Ser) | |
| X | g.137567347A>G | CA414770391 | ZIC3 | c.656A>G (p.Tyr219Cys) | |
| X | g.137567347A>T | CA414770389 | ZIC3 | c.656A>T (p.Tyr219Phe) | |
| X | g.137567348C>A | CA414770392 | ZIC3 | c.657C>A (p.Tyr219Ter) | |
| X | g.137567348C= | CA2460728117 | ZIC3 | c.657C= (p.Tyr219=) | |
| X | g.137567348C>G | CA414770393 | ZIC3 | c.657C>G (p.Tyr219Ter) | |
| X | g.137567348C>T | CA336368838 | ZIC3 | c.657C>T (p.Tyr219=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567349A= | CA2460728118 | ZIC3 | c.658A= (p.Ser220=) | |
| X | g.137567349A>C | CA414770394 | ZIC3 | c.658A>C (p.Ser220Arg) | |
| X | g.137567349A>G | CA414770396 | ZIC3 | c.658A>G (p.Ser220Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567349A>T | CA414770395 | ZIC3 | c.658A>T (p.Ser220Cys) | |
| X | g.137567350G>A | CA414770397 | ZIC3 | c.659G>A (p.Ser220Asn) | gnomAD v4 |
| X | g.137567350G>C | CA414770398 | ZIC3 | c.659G>C (p.Ser220Thr) | |
| X | g.137567350G>T | CA414770399 | ZIC3 | c.659G>T (p.Ser220Ile) | COSMIC |
| X | g.137567351_137567371dup | CA645125588 | ZIC3 | c.660_680dup (p.Gly227_Val228insProMetAsnMetAsnMetGly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567351C>A | CA414770400 | ZIC3 | c.660C>A (p.Ser220Arg) | |
| X | g.137567351C= | CA2460728119 | ZIC3 | c.660C= (p.Ser220=) | |
| X | g.137567351C>G | CA414770401 | ZIC3 | c.660C>G (p.Ser220Arg) | |
| X | g.137567351C>T | CA518857587 | ZIC3 | c.660C>T (p.Ser220=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567352C>A | CA414770402 | ZIC3 | c.661C>A (p.Pro221Thr) | |
| X | g.137567352C= | CA2460728120 | ZIC3 | c.661C= (p.Pro221=) | |
| X | g.137567352C>G | CA10529314 | ZIC3 | c.661C>G (p.Pro221Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567352C>T | CA414770403 | ZIC3 | c.661C>T (p.Pro221Ser) | |
| X | g.137567353C>A | CA414770404 | ZIC3 | c.662C>A (p.Pro221His) | COSMIC COSMIC |
| X | g.137567353C= | CA2460728121 | ZIC3 | c.662C= (p.Pro221=) | |
| X | g.137567353C>G | CA414770405 | ZIC3 | c.662C>G (p.Pro221Arg) | gnomAD v4 |
| X | g.137567353C>T | CA414770406 | ZIC3 | c.662C>T (p.Pro221Leu) | |
| X | g.137567354C>A | CA518857590 | ZIC3 | c.663C>A (p.Pro221=) | |
| X | g.137567354C>G | CA518857591 | ZIC3 | c.663C>G (p.Pro221=) | |
| X | g.137567354C>T | CA518857592 | ZIC3 | c.663C>T (p.Pro221=) | |
| X | g.137567364_137567369dup | CA10529315 | ZIC3 | c.673_678dup (p.Met226_Gly227insAsnMet) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567355A= | CA2460728122 | ZIC3 | c.664A= (p.Met222=) | |
| X | g.137567355A>C | CA414770409 | ZIC3 | c.664A>C (p.Met222Leu) | |
| X | g.137567355A>G | CA414770407 | ZIC3 | c.664A>G (p.Met222Val) | dbSNP gnomAD v4 |
| X | g.137567355A>T | CA414770408 | ZIC3 | c.664A>T (p.Met222Leu) | |
| X | g.137567356T>A | CA414770410 | ZIC3 | c.665T>A (p.Met222Lys) | dbSNP gnomAD v4 |
| X | g.137567356T>C | CA414770411 | ZIC3 | c.665T>C (p.Met222Thr) | |
| X | g.137567356T>G | CA414770412 | ZIC3 | c.665T>G (p.Met222Arg) | |
| X | g.137567356T= | CA2460728123 | ZIC3 | c.665T= (p.Met222=) | |
| X | g.137567357G>A | CA414770413 | ZIC3 | c.666G>A (p.Met222Ile) | |
| X | g.137567357G>C | CA414770414 | ZIC3 | c.666G>C (p.Met222Ile) | |
| X | g.137567357G>T | CA414770415 | ZIC3 | c.666G>T (p.Met222Ile) | |
| X | g.137567358A= | CA2460728124 | ZIC3 | c.667A= (p.Asn223=) | |
| X | g.137567358A>C | CA414770416 | ZIC3 | c.667A>C (p.Asn223His) | |
| X | g.137567358A>G | CA336368841 | ZIC3 | c.667A>G (p.Asn223Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567358A>T | CA414770417 | ZIC3 | c.667A>T (p.Asn223Tyr) | |
| X | g.137567359A= | CA2460728125 | ZIC3 | c.668A= (p.Asn223=) | |
| X | g.137567359A>C | CA414770418 | ZIC3 | c.668A>C (p.Asn223Thr) | |
| X | g.137567359A>G | CA336368843 | ZIC3 | c.668A>G (p.Asn223Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567359A>T | CA414770419 | ZIC3 | c.668A>T (p.Asn223Ile) | |
| X | g.137567360C>A | CA414770421 | ZIC3 | c.669C>A (p.Asn223Lys) | |
| X | g.137567360C>G | CA414770420 | ZIC3 | c.669C>G (p.Asn223Lys) | |
| X | g.137567360C>T | CA518857604 | ZIC3 | c.669C>T (p.Asn223=) | |
| X | g.137567361A>C | CA414770422 | ZIC3 | c.670A>C (p.Met224Leu) | |
| X | g.137567361A>G | CA414770424 | ZIC3 | c.670A>G (p.Met224Val) | |
| X | g.137567361A>T | CA414770423 | ZIC3 | c.670A>T (p.Met224Leu) | |
| X | g.137567362T>A | CA414770425 | ZIC3 | c.671T>A (p.Met224Lys) | |
| X | g.137567362T>C | CA414770426 | ZIC3 | c.671T>C (p.Met224Thr) | |
| X | g.137567362T>G | CA414770427 | ZIC3 | c.671T>G (p.Met224Arg) | |
| X | g.137567367_137567378dup | CA2694828744 | ZIC3 | c.676_687dup (p.Asn229_Val230insMetGlyValAsn) | gnomAD v4 |
| X | g.137567363G>A | CA414770428 | ZIC3 | c.672G>A (p.Met224Ile) | |
| X | g.137567363G>C | CA414770429 | ZIC3 | c.672G>C (p.Met224Ile) | |
| X | g.137567363G>T | CA414770430 | ZIC3 | c.672G>T (p.Met224Ile) | |
| X | g.137567364A>C | CA414770431 | ZIC3 | c.673A>C (p.Asn225His) | |
| X | g.137567364A>G | CA414770432 | ZIC3 | c.673A>G (p.Asn225Asp) | |
| X | g.137567364A>T | CA414770433 | ZIC3 | c.673A>T (p.Asn225Tyr) | |
| X | g.137567365A>C | CA414770434 | ZIC3 | c.674A>C (p.Asn225Thr) | |
| X | g.137567365A>G | CA414770435 | ZIC3 | c.674A>G (p.Asn225Ser) | |
| X | g.137567365A>T | CA414770436 | ZIC3 | c.674A>T (p.Asn225Ile) | |
| X | g.137567366C>A | CA414770437 | ZIC3 | c.675C>A (p.Asn225Lys) | |
| X | g.137567366C>G | CA414770438 | ZIC3 | c.675C>G (p.Asn225Lys) | |
| X | g.137567366C>T | CA518857608 | ZIC3 | c.675C>T (p.Asn225=) | gnomAD v4 |
| X | g.137567367A= | CA2460728126 | ZIC3 | c.676A= (p.Met226=) | |
| X | g.137567367A>C | CA10529316 | ZIC3 | c.676A>C (p.Met226Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567367A>G | CA414770439 | ZIC3 | c.676A>G (p.Met226Val) | |
| X | g.137567367A>T | CA414770440 | ZIC3 | c.676A>T (p.Met226Leu) | |
| X | g.137567368T>A | CA414770441 | ZIC3 | c.677T>A (p.Met226Lys) | |
| X | g.137567368T>C | CA414770442 | ZIC3 | c.677T>C (p.Met226Thr) | |
| X | g.137567368T>G | CA414770443 | ZIC3 | c.677T>G (p.Met226Arg) | |
| X | g.137567369G>A | CA414770444 | ZIC3 | c.678G>A (p.Met226Ile) | |
| X | g.137567369G>C | CA414770445 | ZIC3 | c.678G>C (p.Met226Ile) | |
| X | g.137567369G>T | CA414770446 | ZIC3 | c.678G>T (p.Met226Ile) | |
| X | g.137567371dup | CA2695237712 | ZIC3 | c.680dup (p.Val228SerfsTer?) | |
| X | g.137567370G>A | CA414770447 | ZIC3 | c.679G>A (p.Gly227Arg) | |
| X | g.137567370G>C | CA414770448 | ZIC3 | c.679G>C (p.Gly227Arg) | |
| X | g.137567370G>T | CA414770449 | ZIC3 | c.679G>T (p.Gly227Ter) | |
| X | g.137567371G>A | CA414770450 | ZIC3 | c.680G>A (p.Gly227Glu) | |
| X | g.137567371G>C | CA414770452 | ZIC3 | c.680G>C (p.Gly227Ala) | |
| X | g.137567371G>T | CA414770451 | ZIC3 | c.680G>T (p.Gly227Val) | |
| X | g.137567372A>C | CA518857615 | ZIC3 | c.681A>C (p.Gly227=) | |
| X | g.137567372A>G | CA518857616 | ZIC3 | c.681A>G (p.Gly227=) | |
| X | g.137567372A>T | CA518857617 | ZIC3 | c.681A>T (p.Gly227=) | |
| X | g.137567373G>A | CA10529317 | ZIC3 | c.682G>A (p.Val228Met) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.137567373G>C | CA414770454 | ZIC3 | c.682G>C (p.Val228Leu) | gnomAD v4 |
| X | g.137567373G= | CA2460728127 | ZIC3 | c.682G= (p.Val228=) | |
| X | g.137567373G>T | CA414770453 | ZIC3 | c.682G>T (p.Val228Leu) | |
| X | g.137567374T>A | CA414770455 | ZIC3 | c.683T>A (p.Val228Glu) | |
| X | g.137567374T>C | CA414770456 | ZIC3 | c.683T>C (p.Val228Ala) | dbSNP |
| X | g.137567374T>G | CA414770457 | ZIC3 | c.683T>G (p.Val228Gly) | |
| X | g.137567374T= | CA2460728128 | ZIC3 | c.683T= (p.Val228=) | |
| X | g.137567375G>A | CA518857618 | ZIC3 | c.684G>A (p.Val228=) | |
| X | g.137567375G>C | CA518857619 | ZIC3 | c.684G>C (p.Val228=) | |
| X | g.137567375G>T | CA518857622 | ZIC3 | c.684G>T (p.Val228=) | |
| X | g.137567376A>C | CA414770458 | ZIC3 | c.685A>C (p.Asn229His) | dbSNP |
| X | g.137567376A>G | CA414770459 | ZIC3 | c.685A>G (p.Asn229Asp) | |
| X | g.137567376A>T | CA414770460 | ZIC3 | c.685A>T (p.Asn229Tyr) | |
| X | g.137567377A= | CA2460728129 | ZIC3 | c.686A= (p.Asn229=) | |
| X | g.137567377A>C | CA10529319 | ZIC3 | c.686A>C (p.Asn229Thr) | dbSNP ExAC gnomAD v2 |
| X | g.137567377A>G | CA10529318 | ZIC3 | c.686A>G (p.Asn229Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567377A>T | CA414770461 | ZIC3 | c.686A>T (p.Asn229Ile) | |
| X | g.137567378C>A | CA414770462 | ZIC3 | c.687C>A (p.Asn229Lys) | |
| X | g.137567378C>G | CA414770463 | ZIC3 | c.687C>G (p.Asn229Lys) | |
| X | g.137567378C>T | CA518857627 | ZIC3 | c.687C>T (p.Asn229=) | gnomAD v4 COSMIC COSMIC |
| X | g.137567379G>A | CA414770466 | ZIC3 | c.688G>A (p.Val230Met) | dbSNP |
| X | g.137567379G>C | CA414770464 | ZIC3 | c.688G>C (p.Val230Leu) | |
| X | g.137567379G>T | CA414770465 | ZIC3 | c.688G>T (p.Val230Leu) | |
| X | g.137567380T>A | CA414770467 | ZIC3 | c.689T>A (p.Val230Glu) | |
| X | g.137567380T>C | CA414770468 | ZIC3 | c.689T>C (p.Val230Ala) | |
| X | g.137567380T>G | CA414770469 | ZIC3 | c.689T>G (p.Val230Gly) | |
| X | g.137567381G>A | CA518857636 | ZIC3 | c.690G>A (p.Val230=) | gnomAD v4 |
| X | g.137567381G>C | CA518857635 | ZIC3 | c.690G>C (p.Val230=) | |
| X | g.137567381G>T | CA518857634 | ZIC3 | c.690G>T (p.Val230=) | |
| X | g.137567382G>A | CA414770470 | ZIC3 | c.691G>A (p.Ala231Thr) | dbSNP gnomAD v4 |
| X | g.137567382G>C | CA414770471 | ZIC3 | c.691G>C (p.Ala231Pro) | |
| X | g.137567382G= | CA2460728130 | ZIC3 | c.691G= (p.Ala231=) | |
| X | g.137567382G>T | CA414770472 | ZIC3 | c.691G>T (p.Ala231Ser) | |
| X | g.137567383C>A | CA414770473 | ZIC3 | c.692C>A (p.Ala231Glu) | |
| X | g.137567383C= | CA2460728131 | ZIC3 | c.692C= (p.Ala231=) | |
| X | g.137567383C>G | CA10529320 | ZIC3 | c.692C>G (p.Ala231Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567383C>T | CA414770474 | ZIC3 | c.692C>T (p.Ala231Val) | |
| X | g.137567384G>A | CA10529321 | ZIC3 | c.693G>A (p.Ala231=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567384G>C | CA518857639 | ZIC3 | c.693G>C (p.Ala231=) | |
| X | g.137567384G= | CA2460728132 | ZIC3 | c.693G= (p.Ala231=) | |
| X | g.137567384G>T | CA518857640 | ZIC3 | c.693G>T (p.Ala231=) | |
| X | g.137567385G>A | CA414770476 | ZIC3 | c.694G>A (p.Ala232Thr) | gnomAD v4 |
| X | g.137567385G>C | CA414770477 | ZIC3 | c.694G>C (p.Ala232Pro) | |
| X | g.137567385G>T | CA414770475 | ZIC3 | c.694G>T (p.Ala232Ser) | |
| X | g.137567386C>A | CA414770478 | ZIC3 | c.695C>A (p.Ala232Asp) | |
| X | g.137567386C>G | CA414770479 | ZIC3 | c.695C>G (p.Ala232Gly) | |
| X | g.137567386C>T | CA414770480 | ZIC3 | c.695C>T (p.Ala232Val) | |
| X | g.137567387C>A | CA518857642 | ZIC3 | c.696C>A (p.Ala232=) | |
| X | g.137567387C>G | CA518857643 | ZIC3 | c.696C>G (p.Ala232=) | |
| X | g.137567387C>T | CA518857644 | ZIC3 | c.696C>T (p.Ala232=) | gnomAD v4 |
| X | g.137567388C>A | CA414770481 | ZIC3 | c.697C>A (p.His233Asn) | |
| X | g.137567388C>G | CA414770482 | ZIC3 | c.697C>G (p.His233Asp) | |
| X | g.137567388C>T | CA414770483 | ZIC3 | c.697C>T (p.His233Tyr) | |
| X | g.137567389A>C | CA414770486 | ZIC3 | c.698A>C (p.His233Pro) | |
| X | g.137567389A>G | CA414770484 | ZIC3 | c.698A>G (p.His233Arg) | gnomAD v4 |
| X | g.137567389A>T | CA414770485 | ZIC3 | c.698A>T (p.His233Leu) | |
| X | g.137567390C>A | CA414770487 | ZIC3 | c.699C>A (p.His233Gln) | |
| X | g.137567390C>G | CA414770488 | ZIC3 | c.699C>G (p.His233Gln) | |
| X | g.137567390C>T | CA518857649 | ZIC3 | c.699C>T (p.His233=) | |
| X | g.137567391C>A | CA414770489 | ZIC3 | c.700C>A (p.His234Asn) | dbSNP |
| X | g.137567391C= | CA2460728133 | ZIC3 | c.700C= (p.His234=) | |
| X | g.137567391C>G | CA414770490 | ZIC3 | c.700C>G (p.His234Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567391C>T | CA414770491 | ZIC3 | c.700C>T (p.His234Tyr) | |
| X | g.137567392A>C | CA414770492 | ZIC3 | c.701A>C (p.His234Pro) | |
| X | g.137567392A>G | CA414770494 | ZIC3 | c.701A>G (p.His234Arg) | |
| X | g.137567392A>T | CA414770493 | ZIC3 | c.701A>T (p.His234Leu) | |
| X | g.137567393C>A | CA414770495 | ZIC3 | c.702C>A (p.His234Gln) | |
| X | g.137567393C= | CA2460728134 | ZIC3 | c.702C= (p.His234=) | |
| X | g.137567393C>G | CA414770496 | ZIC3 | c.702C>G (p.His234Gln) | |
| X | g.137567393C>T | CA518857654 | ZIC3 | c.702C>T (p.His234=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.137567393dup | CA2694828745 | ZIC3 | c.702dup (p.Gly235ArgfsTer?) | gnomAD v4 |
| X | g.137567394G>A | CA414770497 | ZIC3 | c.703G>A (p.Gly235Arg) | gnomAD v4 |
| X | g.137567394G>C | CA414770498 | ZIC3 | c.703G>C (p.Gly235Arg) | gnomAD v4 |
| X | g.137567394G>T | CA414770499 | ZIC3 | c.703G>T (p.Gly235Trp) | |
| X | g.137567395G>A | CA414770500 | ZIC3 | c.704G>A (p.Gly235Glu) | COSMIC COSMIC |
| X | g.137567395G>C | CA414770501 | ZIC3 | c.704G>C (p.Gly235Ala) | |
| X | g.137567395G= | CA2460728135 | ZIC3 | c.704G= (p.Gly235=) | |
| X | g.137567395G>T | CA414770502 | ZIC3 | c.704G>T (p.Gly235Val) | dbSNP gnomAD v4 |
| X | g.137567396G>A | CA518857656 | ZIC3 | c.705G>A (p.Gly235=) | gnomAD v4 |
| X | g.137567396G>C | CA518857657 | ZIC3 | c.705G>C (p.Gly235=) | |
| X | g.137567396G>T | CA518857659 | ZIC3 | c.705G>T (p.Gly235=) | |
| X | g.137567397C>A | CA414770503 | ZIC3 | c.706C>A (p.Pro236Thr) | |
| X | g.137567397C>G | CA414770504 | ZIC3 | c.706C>G (p.Pro236Ala) | |
| X | g.137567397C>T | CA414770505 | ZIC3 | c.706C>T (p.Pro236Ser) | |
| X | g.137567398C>A | CA414770508 | ZIC3 | c.707C>A (p.Pro236His) | |
| X | g.137567398C>G | CA414770507 | ZIC3 | c.707C>G (p.Pro236Arg) | |
| X | g.137567398C>T | CA414770506 | ZIC3 | c.707C>T (p.Pro236Leu) | gnomAD v4 COSMIC |
| X | g.137567399C>A | CA518857662 | ZIC3 | c.708C>A (p.Pro236=) | |
| X | g.137567399C>G | CA518857663 | ZIC3 | c.708C>G (p.Pro236=) | |
| X | g.137567399C>T | CA518857664 | ZIC3 | c.708C>T (p.Pro236=) |