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 |
|---|---|---|---|---|---|
| X | g.137567249G>A | CA518857406 | ZIC3 | c.558G>A (p.Leu186=) | |
| X | g.137567249G>C | CA518857407 | ZIC3 | c.558G>C (p.Leu186=) | |
| X | g.137567249G>T | CA518857408 | ZIC3 | c.558G>T (p.Leu186=) | |
| X | g.137567250G>A | CA414770186 | ZIC3 | c.559G>A (p.Gly187Arg) | |
| X | g.137567250G>C | CA414770187 | ZIC3 | c.559G>C (p.Gly187Arg) | |
| X | g.137567250G>T | CA414770188 | ZIC3 | c.559G>T (p.Gly187Trp) | |
| X | g.137567251G>A | CA414770189 | ZIC3 | c.560G>A (p.Gly187Glu) | gnomAD v4 |
| X | g.137567251G>C | CA414770190 | ZIC3 | c.560G>C (p.Gly187Ala) | |
| X | g.137567251G>T | CA414770191 | ZIC3 | c.560G>T (p.Gly187Val) | |
| X | g.137567252G>A | CA518857411 | ZIC3 | c.561G>A (p.Gly187=) | |
| X | g.137567252G>C | CA10529305 | ZIC3 | c.561G>C (p.Gly187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567252G= | CA2460728080 | ZIC3 | c.561G= (p.Gly187=) | |
| X | g.137567252G>T | CA518857412 | ZIC3 | c.561G>T (p.Gly187=) | |
| X | g.137567253C>A | CA414770192 | ZIC3 | c.562C>A (p.Leu188Met) | |
| X | g.137567253C>G | CA414770193 | ZIC3 | c.562C>G (p.Leu188Val) | |
| X | g.137567253C>T | CA518857414 | ZIC3 | c.562C>T (p.Leu188=) | |
| X | g.137567254T>A | CA414770194 | ZIC3 | c.563T>A (p.Leu188Gln) | |
| X | g.137567254T>C | CA414770195 | ZIC3 | c.563T>C (p.Leu188Pro) | |
| X | g.137567254T>G | CA414770196 | ZIC3 | c.563T>G (p.Leu188Arg) | |
| X | g.137567255G>A | CA518857417 | ZIC3 | c.564G>A (p.Leu188=) | |
| X | g.137567255G>C | CA518857418 | ZIC3 | c.564G>C (p.Leu188=) | |
| X | g.137567255G>T | CA518857419 | ZIC3 | c.564G>T (p.Leu188=) | |
| X | g.137567256C>A | CA414770199 | ZIC3 | c.565C>A (p.Arg189Ser) | |
| X | g.137567256C>G | CA414770197 | ZIC3 | c.565C>G (p.Arg189Gly) | |
| X | g.137567256C>T | CA414770198 | ZIC3 | c.565C>T (p.Arg189Cys) | |
| X | g.137567257G>A | CA414770200 | ZIC3 | c.566G>A (p.Arg189His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567257G>C | CA414770201 | ZIC3 | c.566G>C (p.Arg189Pro) | |
| X | g.137567257G= | CA2460728081 | ZIC3 | c.566G= (p.Arg189=) | |
| X | g.137567257G>T | CA414770202 | ZIC3 | c.566G>T (p.Arg189Leu) | |
| X | g.137567258T>A | CA518857421 | ZIC3 | c.567T>A (p.Arg189=) | |
| X | g.137567258T>C | CA518857423 | ZIC3 | c.567T>C (p.Arg189=) | |
| X | g.137567258T>G | CA518857425 | ZIC3 | c.567T>G (p.Arg189=) | |
| X | g.137567258_137567259delinsTG | CA2460728082 | ZIC3 | c.567_568delinsTG (p.Arg189=) | |
| X | g.137567259G>A | CA414770203 | ZIC3 | c.568G>A (p.Gly190Arg) | |
| X | g.137567259G>C | CA414770204 | ZIC3 | c.568G>C (p.Gly190Arg) | gnomAD v4 |
| X | g.137567259G>T | CA414770205 | ZIC3 | c.568G>T (p.Gly190Trp) | |
| X | g.137567262del | CA915952402 | ZIC3 | c.571del (p.Glu191SerfsTer?) | ClinVar dbSNP |
| X | g.137567260G>A | CA414770206 | ZIC3 | c.569G>A (p.Gly190Glu) | |
| X | g.137567260G>C | CA414770207 | ZIC3 | c.569G>C (p.Gly190Ala) | |
| X | g.137567260G>T | CA414770208 | ZIC3 | c.569G>T (p.Gly190Val) | COSMIC COSMIC |
| X | g.137567261G>A | CA518857432 | ZIC3 | c.570G>A (p.Gly190=) | dbSNP gnomAD v4 |
| X | g.137567261G>C | CA518857431 | ZIC3 | c.570G>C (p.Gly190=) | |
| X | g.137567261G= | CA2460728083 | ZIC3 | c.570G= (p.Gly190=) | |
| X | g.137567261G>T | CA518857429 | ZIC3 | c.570G>T (p.Gly190=) | |
| X | g.137567262G>A | CA414770209 | ZIC3 | c.571G>A (p.Glu191Lys) | |
| X | g.137567262G>C | CA414770210 | ZIC3 | c.571G>C (p.Glu191Gln) | |
| X | g.137567262G>T | CA414770211 | ZIC3 | c.571G>T (p.Glu191Ter) | |
| X | g.137567263A>C | CA414770214 | ZIC3 | c.572A>C (p.Glu191Ala) | |
| X | g.137567263A>G | CA414770213 | ZIC3 | c.572A>G (p.Glu191Gly) | |
| X | g.137567263A>T | CA414770212 | ZIC3 | c.572A>T (p.Glu191Val) | |
| X | g.137567264G>A | CA518857434 | ZIC3 | c.573G>A (p.Glu191=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567264G>C | CA414770215 | ZIC3 | c.573G>C (p.Glu191Asp) | |
| X | g.137567264G= | CA2460728084 | ZIC3 | c.573G= (p.Glu191=) | |
| X | g.137567264G>T | CA414770216 | ZIC3 | c.573G>T (p.Glu191Asp) | |
| X | g.137567265C>A | CA414770217 | ZIC3 | c.574C>A (p.Leu192Met) | |
| X | g.137567265C= | CA2460728085 | ZIC3 | c.574C= (p.Leu192=) | |
| X | g.137567265C>G | CA414770218 | ZIC3 | c.574C>G (p.Leu192Val) | |
| X | g.137567265C>T | CA518857436 | ZIC3 | c.574C>T (p.Leu192=) | dbSNP |
| X | g.137567266T>A | CA414770219 | ZIC3 | c.575T>A (p.Leu192Gln) | |
| X | g.137567266T>C | CA414770220 | ZIC3 | c.575T>C (p.Leu192Pro) | |
| X | g.137567266T>G | CA414770221 | ZIC3 | c.575T>G (p.Leu192Arg) | |
| X | g.137567267G>A | CA518857440 | ZIC3 | c.576G>A (p.Leu192=) | |
| X | g.137567267G>C | CA518857438 | ZIC3 | c.576G>C (p.Leu192=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567267G= | CA2460728086 | ZIC3 | c.576G= (p.Leu192=) | |
| X | g.137567267G>T | CA518857439 | ZIC3 | c.576G>T (p.Leu192=) | |
| X | g.137567268T>A | CA414770222 | ZIC3 | c.577T>A (p.Phe193Ile) | |
| X | g.137567268T>C | CA414770223 | ZIC3 | c.577T>C (p.Phe193Leu) | |
| X | g.137567268T>G | CA414770224 | ZIC3 | c.577T>G (p.Phe193Val) | |
| X | g.137567269T>A | CA414770225 | ZIC3 | c.578T>A (p.Phe193Tyr) | |
| X | g.137567269T>C | CA414770226 | ZIC3 | c.578T>C (p.Phe193Ser) | |
| X | g.137567269T>G | CA414770227 | ZIC3 | c.578T>G (p.Phe193Cys) | |
| X | g.137567270C>A | CA414770229 | ZIC3 | c.579C>A (p.Phe193Leu) | |
| X | g.137567270C>G | CA414770228 | ZIC3 | c.579C>G (p.Phe193Leu) | gnomAD v4 |
| X | g.137567270C>T | CA518857441 | ZIC3 | c.579C>T (p.Phe193=) | |
| X | g.137567271G>A | CA414770230 | ZIC3 | c.580G>A (p.Gly194Ser) | COSMIC COSMIC |
| X | g.137567271G>C | CA414770231 | ZIC3 | c.580G>C (p.Gly194Arg) | dbSNP gnomAD v4 |
| X | g.137567271G= | CA2460728087 | ZIC3 | c.580G= (p.Gly194=) | |
| X | g.137567271G>T | CA414770232 | ZIC3 | c.580G>T (p.Gly194Cys) | COSMIC COSMIC |
| X | g.137567272G>A | CA414770233 | ZIC3 | c.581G>A (p.Gly194Asp) | gnomAD v4 |
| X | g.137567272G>C | CA414770234 | ZIC3 | c.581G>C (p.Gly194Ala) | |
| X | g.137567272G>T | CA414770235 | ZIC3 | c.581G>T (p.Gly194Val) | |
| X | g.137567273C>A | CA518857446 | ZIC3 | c.582C>A (p.Gly194=) | |
| X | g.137567273C>G | CA518857447 | ZIC3 | c.582C>G (p.Gly194=) | |
| X | g.137567273C>T | CA518857448 | ZIC3 | c.582C>T (p.Gly194=) | gnomAD v4 |
| X | g.137567274C>A | CA414770236 | ZIC3 | c.583C>A (p.Arg195Ser) | |
| X | g.137567274C= | CA2460728088 | ZIC3 | c.583C= (p.Arg195=) | |
| X | g.137567274C>G | CA10529306 | ZIC3 | c.583C>G (p.Arg195Gly) | dbSNP ExAC |
| X | g.137567274C>T | CA336368824 | ZIC3 | c.583C>T (p.Arg195Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.137567275G>A | CA414770237 | ZIC3 | c.584G>A (p.Arg195His) | dbSNP gnomAD v2 |
| X | g.137567275G>C | CA414770238 | ZIC3 | c.584G>C (p.Arg195Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567275G= | CA2460728089 | ZIC3 | c.584G= (p.Arg195=) | |
| X | g.137567275G>T | CA414770239 | ZIC3 | c.584G>T (p.Arg195Leu) | |
| X | g.137567276T>A | CA518857450 | ZIC3 | c.585T>A (p.Arg195=) | |
| X | g.137567276T>C | CA518857451 | ZIC3 | c.585T>C (p.Arg195=) | |
| X | g.137567276T>G | CA518857452 | ZIC3 | c.585T>G (p.Arg195=) | |
| X | g.137567277G>A | CA414770241 | ZIC3 | c.586G>A (p.Ala196Thr) | |
| X | g.137567277G>C | CA414770242 | ZIC3 | c.586G>C (p.Ala196Pro) | |
| X | g.137567277G>T | CA414770240 | ZIC3 | c.586G>T (p.Ala196Ser) | |
| X | g.137567278C>A | CA414770243 | ZIC3 | c.587C>A (p.Ala196Asp) | |
| X | g.137567278C= | CA2460728090 | ZIC3 | c.587C= (p.Ala196=) | |
| X | g.137567278C>G | CA414770244 | ZIC3 | c.587C>G (p.Ala196Gly) | |
| X | g.137567278C>T | CA414770245 | ZIC3 | c.587C>T (p.Ala196Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567279T>A | CA518857457 | ZIC3 | c.588T>A (p.Ala196=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567279T>C | CA518857458 | ZIC3 | c.588T>C (p.Ala196=) | |
| X | g.137567279T>G | CA518857459 | ZIC3 | c.588T>G (p.Ala196=) | |
| X | g.137567279T= | CA2460728091 | ZIC3 | c.588T= (p.Ala196=) | |
| X | g.137567280G>A | CA414770246 | ZIC3 | c.589G>A (p.Asp197Asn) | |
| X | g.137567280G>C | CA414770247 | ZIC3 | c.589G>C (p.Asp197His) | |
| X | g.137567280G>T | CA414770248 | ZIC3 | c.589G>T (p.Asp197Tyr) | |
| X | g.137567281A>C | CA414770251 | ZIC3 | c.590A>C (p.Asp197Ala) | |
| X | g.137567281A>G | CA414770249 | ZIC3 | c.590A>G (p.Asp197Gly) | |
| X | g.137567281A>T | CA414770250 | ZIC3 | c.590A>T (p.Asp197Val) | |
| X | g.137567281_137567298delinsACCCATACCGCCCAGTGG | CA2460728092 | ZIC3 | c.590_607delinsACCCATACCGCCCAGTGG (p.Asp197=) | |
| X | g.137567282C>A | CA414770252 | ZIC3 | c.591C>A (p.Asp197Glu) | |
| X | g.137567282C>G | CA414770253 | ZIC3 | c.591C>G (p.Asp197Glu) | |
| X | g.137567282C>T | CA518857465 | ZIC3 | c.591C>T (p.Asp197=) | |
| X | g.137567284_137567300del | CA913190689 | ZIC3 | c.593_609del (p.Pro198GlnfsTer15) | ClinVar dbSNP |
| X | g.137567283C>A | CA414770254 | ZIC3 | c.592C>A (p.Pro198Thr) | |
| X | g.137567283C>G | CA414770255 | ZIC3 | c.592C>G (p.Pro198Ala) | |
| X | g.137567283C>T | CA414770256 | ZIC3 | c.592C>T (p.Pro198Ser) | |
| X | g.137567286_137567301del | CA2695237710 | ZIC3 | c.595_610del (p.Tyr199AlafsTer19) | |
| X | g.137567284C>A | CA414770257 | ZIC3 | c.593C>A (p.Pro198Gln) | |
| X | g.137567284C= | CA2460728093 | ZIC3 | c.593C= (p.Pro198=) | |
| X | g.137567284C>G | CA414770258 | ZIC3 | c.593C>G (p.Pro198Arg) | dbSNP gnomAD v2 |
| X | g.137567284C>T | CA336368826 | ZIC3 | c.593C>T (p.Pro198Leu) | dbSNP |
| X | g.137567285A>C | CA518857473 | ZIC3 | c.594A>C (p.Pro198=) | |
| X | g.137567285A>G | CA518857470 | ZIC3 | c.594A>G (p.Pro198=) | |
| X | g.137567285A>T | CA518857468 | ZIC3 | c.594A>T (p.Pro198=) | |
| X | g.137567286T>A | CA414770259 | ZIC3 | c.595T>A (p.Tyr199Asn) | |
| X | g.137567286T>C | CA414770260 | ZIC3 | c.595T>C (p.Tyr199His) | gnomAD v4 |
| X | g.137567286T>G | CA414770261 | ZIC3 | c.595T>G (p.Tyr199Asp) | |
| X | g.137567287A>C | CA414770262 | ZIC3 | c.596A>C (p.Tyr199Ser) | |
| X | g.137567287A>G | CA414770263 | ZIC3 | c.596A>G (p.Tyr199Cys) | |
| X | g.137567287A>T | CA414770264 | ZIC3 | c.596A>T (p.Tyr199Phe) | |
| X | g.137567288C>A | CA414770265 | ZIC3 | c.597C>A (p.Tyr199Ter) | |
| X | g.137567288C= | CA2460728094 | ZIC3 | c.597C= (p.Tyr199=) | |
| X | g.137567288C>G | CA414770266 | ZIC3 | c.597C>G (p.Tyr199Ter) | |
| X | g.137567288C>T | CA336368828 | ZIC3 | c.597C>T (p.Tyr199=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567289C>A | CA10529307 | ZIC3 | c.598C>A (p.Arg200Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567289C= | CA2460728095 | ZIC3 | c.598C= (p.Arg200=) | |
| X | g.137567289C>G | CA414770267 | ZIC3 | c.598C>G (p.Arg200Gly) | |
| X | g.137567289C>T | CA414770268 | ZIC3 | c.598C>T (p.Arg200Cys) | dbSNP |
| X | g.137567290del | CA2580101580 | ZIC3 | c.599del (p.Arg200ProfsTer23) | ClinVar |
| X | g.137567290G>A | CA414770271 | ZIC3 | c.599G>A (p.Arg200His) | gnomAD v4 COSMIC COSMIC |
| X | g.137567290G>C | CA414770270 | ZIC3 | c.599G>C (p.Arg200Pro) | |
| X | g.137567290G>T | CA414770269 | ZIC3 | c.599G>T (p.Arg200Leu) | |
| X | g.137567291C>A | CA518857482 | ZIC3 | c.600C>A (p.Arg200=) | |
| X | g.137567291C>G | CA518857483 | ZIC3 | c.600C>G (p.Arg200=) | |
| X | g.137567291C>T | CA518857484 | ZIC3 | c.600C>T (p.Arg200=) | |
| X | g.137567292C>A | CA414770273 | ZIC3 | c.601C>A (p.Pro201Thr) | |
| X | g.137567292C>G | CA414770272 | ZIC3 | c.601C>G (p.Pro201Ala) | |
| X | g.137567292C>T | CA414770274 | ZIC3 | c.601C>T (p.Pro201Ser) | |
| X | g.137567293C>A | CA414770275 | ZIC3 | c.602C>A (p.Pro201Gln) | |
| X | g.137567293C>G | CA414770276 | ZIC3 | c.602C>G (p.Pro201Arg) | |
| X | g.137567293C>T | CA414770277 | ZIC3 | c.602C>T (p.Pro201Leu) | |
| X | g.137567294A>C | CA518857486 | ZIC3 | c.603A>C (p.Pro201=) | |
| X | g.137567294A>G | CA518857487 | ZIC3 | c.603A>G (p.Pro201=) | gnomAD v4 |
| X | g.137567294A>T | CA518857489 | ZIC3 | c.603A>T (p.Pro201=) | |
| X | g.137567295G>A | CA414770278 | ZIC3 | c.604G>A (p.Val202Met) | |
| X | g.137567295G>C | CA414770279 | ZIC3 | c.604G>C (p.Val202Leu) | |
| X | g.137567295G>T | CA414770280 | ZIC3 | c.604G>T (p.Val202Leu) | |
| X | g.137567296T>A | CA414770283 | ZIC3 | c.605T>A (p.Val202Glu) | |
| X | g.137567296T>C | CA414770282 | ZIC3 | c.605T>C (p.Val202Ala) | |
| X | g.137567296T>G | CA414770281 | ZIC3 | c.605T>G (p.Val202Gly) | |
| X | g.137567297G>A | CA518857492 | ZIC3 | c.606G>A (p.Val202=) | gnomAD v4 |
| X | g.137567297G>C | CA518857493 | ZIC3 | c.606G>C (p.Val202=) | |
| X | g.137567297G>T | CA518857494 | ZIC3 | c.606G>T (p.Val202=) | |
| X | g.137567298G>A | CA10529308 | ZIC3 | c.607G>A (p.Ala203Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567298G>C | CA414770284 | ZIC3 | c.607G>C (p.Ala203Pro) | |
| X | g.137567298G= | CA2460728096 | ZIC3 | c.607G= (p.Ala203=) | |
| X | g.137567298G>T | CA414770285 | ZIC3 | c.607G>T (p.Ala203Ser) | |
| 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) | |
| 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) |