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.137567404C>A | CA414770518 | ZIC3 | c.713C>A (p.Ala238Asp) | |
| X | g.137567404C>G | CA414770519 | ZIC3 | c.713C>G (p.Ala238Gly) | |
| X | g.137567404C>T | CA414770520 | ZIC3 | c.713C>T (p.Ala238Val) | COSMIC COSMIC |
| X | g.137567405C>A | CA518857669 | ZIC3 | c.714C>A (p.Ala238=) | |
| X | g.137567405C>G | CA518857670 | ZIC3 | c.714C>G (p.Ala238=) | |
| X | g.137567405C>T | CA518857671 | ZIC3 | c.714C>T (p.Ala238=) | |
| X | g.137567406T>A | CA414770521 | ZIC3 | c.715T>A (p.Phe239Ile) | |
| X | g.137567406T>C | CA414770522 | ZIC3 | c.715T>C (p.Phe239Leu) | |
| X | g.137567406T>G | CA414770523 | ZIC3 | c.715T>G (p.Phe239Val) | |
| X | g.137567407T>A | CA414770526 | ZIC3 | c.716T>A (p.Phe239Tyr) | |
| X | g.137567407T>C | CA414770525 | ZIC3 | c.716T>C (p.Phe239Ser) | |
| X | g.137567407T>G | CA414770524 | ZIC3 | c.716T>G (p.Phe239Cys) | |
| X | g.137567408C>A | CA414770527 | ZIC3 | c.717C>A (p.Phe239Leu) | |
| X | g.137567408C= | CA2460728137 | ZIC3 | c.717C= (p.Phe239=) | |
| X | g.137567408C>G | CA414770528 | ZIC3 | c.717C>G (p.Phe239Leu) | |
| X | g.137567408C>T | CA518857673 | ZIC3 | c.717C>T (p.Phe239=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567409T>A | CA414770529 | ZIC3 | c.718T>A (p.Phe240Ile) | |
| X | g.137567409T>C | CA414770530 | ZIC3 | c.718T>C (p.Phe240Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567409T>G | CA414770531 | ZIC3 | c.718T>G (p.Phe240Val) | |
| X | g.137567409T= | CA2460728138 | ZIC3 | c.718T= (p.Phe240=) | |
| X | g.137567410T>A | CA414770532 | ZIC3 | c.719T>A (p.Phe240Tyr) | |
| X | g.137567410T>C | CA414770533 | ZIC3 | c.719T>C (p.Phe240Ser) | gnomAD v4 |
| X | g.137567410T>G | CA414770534 | ZIC3 | c.719T>G (p.Phe240Cys) | |
| X | g.137567411C>A | CA414770535 | ZIC3 | c.720C>A (p.Phe240Leu) | |
| X | g.137567411C>G | CA414770536 | ZIC3 | c.720C>G (p.Phe240Leu) | |
| X | g.137567411C>T | CA518857674 | ZIC3 | c.720C>T (p.Phe240=) | |
| X | g.137567412C>A | CA414770537 | ZIC3 | c.721C>A (p.Arg241Ser) | |
| X | g.137567412C>G | CA414770538 | ZIC3 | c.721C>G (p.Arg241Gly) | |
| X | g.137567412C>T | CA414770539 | ZIC3 | c.721C>T (p.Arg241Cys) | |
| X | g.137567413G>A | CA414770541 | ZIC3 | c.722G>A (p.Arg241His) | gnomAD v4 |
| X | g.137567413G>C | CA414770542 | ZIC3 | c.722G>C (p.Arg241Pro) | |
| X | g.137567413G>T | CA414770540 | ZIC3 | c.722G>T (p.Arg241Leu) | |
| X | g.137567414T>A | CA518857678 | ZIC3 | c.723T>A (p.Arg241=) | |
| X | g.137567414T>C | CA518857680 | ZIC3 | c.723T>C (p.Arg241=) | |
| X | g.137567414T>G | CA518857679 | ZIC3 | c.723T>G (p.Arg241=) | |
| X | g.137567415T>A | CA414770543 | ZIC3 | c.724T>A (p.Tyr242Asn) | |
| X | g.137567415T>C | CA414770544 | ZIC3 | c.724T>C (p.Tyr242His) | |
| X | g.137567415T>G | CA414770545 | ZIC3 | c.724T>G (p.Tyr242Asp) | |
| X | g.137567418_137567431del | CA2580101581 | ZIC3 | c.727_740del (p.Met243GlnfsTer30) | ClinVar |
| X | g.137567416A>C | CA414770546 | ZIC3 | c.725A>C (p.Tyr242Ser) | |
| X | g.137567416A>G | CA414770547 | ZIC3 | c.725A>G (p.Tyr242Cys) | |
| X | g.137567416A>T | CA414770548 | ZIC3 | c.725A>T (p.Tyr242Phe) | |
| X | g.137567417T>A | CA414770549 | ZIC3 | c.726T>A (p.Tyr242Ter) | |
| X | g.137567417T>C | CA336368849 | ZIC3 | c.726T>C (p.Tyr242=) | dbSNP |
| X | g.137567417T>G | CA414770550 | ZIC3 | c.726T>G (p.Tyr242Ter) | |
| X | g.137567417T= | CA2460728139 | ZIC3 | c.726T= (p.Tyr242=) | |
| X | g.137567418A>C | CA414770551 | ZIC3 | c.727A>C (p.Met243Leu) | |
| X | g.137567418A>G | CA414770552 | ZIC3 | c.727A>G (p.Met243Val) | gnomAD v3 gnomAD v4 |
| X | g.137567418A>T | CA414770553 | ZIC3 | c.727A>T (p.Met243Leu) | |
| X | g.137567419T>A | CA414770556 | ZIC3 | c.728T>A (p.Met243Lys) | gnomAD v4 |
| X | g.137567419T>C | CA414770554 | ZIC3 | c.728T>C (p.Met243Thr) | |
| X | g.137567419T>G | CA414770555 | ZIC3 | c.728T>G (p.Met243Arg) | |
| X | g.137567420G>A | CA414770557 | ZIC3 | c.729G>A (p.Met243Ile) | |
| X | g.137567420G>C | CA414770558 | ZIC3 | c.729G>C (p.Met243Ile) | |
| X | g.137567420G>T | CA414770559 | ZIC3 | c.729G>T (p.Met243Ile) | |
| X | g.137567421C>A | CA518857684 | ZIC3 | c.730C>A (p.Arg244=) | gnomAD v4 |
| X | g.137567421C>G | CA414770560 | ZIC3 | c.730C>G (p.Arg244Gly) | |
| X | g.137567421C>T | CA414770561 | ZIC3 | c.730C>T (p.Arg244Trp) | COSMIC |
| X | g.137567422G>A | CA414770562 | ZIC3 | c.731G>A (p.Arg244Gln) | dbSNP |
| X | g.137567422G>C | CA414770563 | ZIC3 | c.731G>C (p.Arg244Pro) | |
| X | g.137567422G= | CA2460728140 | ZIC3 | c.731G= (p.Arg244=) | |
| X | g.137567422G>T | CA414770564 | ZIC3 | c.731G>T (p.Arg244Leu) | |
| X | g.137567423G>A | CA518857685 | ZIC3 | c.732G>A (p.Arg244=) | gnomAD v3 gnomAD v4 |
| X | g.137567423G>C | CA518857686 | ZIC3 | c.732G>C (p.Arg244=) | |
| X | g.137567423G>T | CA518857687 | ZIC3 | c.732G>T (p.Arg244=) | |
| X | g.137567424C>A | CA414770565 | ZIC3 | c.733C>A (p.Gln245Lys) | |
| X | g.137567424C>G | CA414770566 | ZIC3 | c.733C>G (p.Gln245Glu) | |
| X | g.137567424C>T | CA414770567 | ZIC3 | c.733C>T (p.Gln245Ter) | |
| X | g.137567425A>C | CA414770570 | ZIC3 | c.734A>C (p.Gln245Pro) | |
| X | g.137567425A>G | CA414770569 | ZIC3 | c.734A>G (p.Gln245Arg) | |
| X | g.137567425A>T | CA414770568 | ZIC3 | c.734A>T (p.Gln245Leu) | |
| X | g.137567426G>A | CA518857688 | ZIC3 | c.735G>A (p.Gln245=) | |
| X | g.137567426G>C | CA414770571 | ZIC3 | c.735G>C (p.Gln245His) | |
| X | g.137567426G>T | CA414770572 | ZIC3 | c.735G>T (p.Gln245His) | |
| X | g.137567427C>A | CA414770573 | ZIC3 | c.736C>A (p.Pro246Thr) | |
| X | g.137567427C= | CA2460728141 | ZIC3 | c.736C= (p.Pro246=) | |
| X | g.137567427C>G | CA336368851 | ZIC3 | c.736C>G (p.Pro246Ala) | dbSNP |
| X | g.137567427C>T | CA414770574 | ZIC3 | c.736C>T (p.Pro246Ser) | |
| X | g.137567428C>A | CA414770575 | ZIC3 | c.737C>A (p.Pro246His) | |
| X | g.137567428C>G | CA414770576 | ZIC3 | c.737C>G (p.Pro246Arg) | |
| X | g.137567428C>T | CA414770577 | ZIC3 | c.737C>T (p.Pro246Leu) | |
| X | g.137567429T>A | CA518857692 | ZIC3 | c.738T>A (p.Pro246=) | |
| X | g.137567429T>C | CA518857694 | ZIC3 | c.738T>C (p.Pro246=) | |
| X | g.137567429T>G | CA518857693 | ZIC3 | c.738T>G (p.Pro246=) | |
| X | g.137567430A= | CA2460728142 | ZIC3 | c.739A= (p.Ile247=) | |
| X | g.137567430A>C | CA414770578 | ZIC3 | c.739A>C (p.Ile247Leu) | |
| X | g.137567430A>G | CA10529323 | ZIC3 | c.739A>G (p.Ile247Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567430A>T | CA414770579 | ZIC3 | c.739A>T (p.Ile247Phe) | COSMIC COSMIC |
| X | g.137567431T>A | CA414770580 | ZIC3 | c.740T>A (p.Ile247Asn) | |
| X | g.137567431T>C | CA414770581 | ZIC3 | c.740T>C (p.Ile247Thr) | |
| X | g.137567431T>G | CA414770582 | ZIC3 | c.740T>G (p.Ile247Ser) | |
| X | g.137567432C>A | CA518857695 | ZIC3 | c.741C>A (p.Ile247=) | |
| X | g.137567432C>G | CA414770583 | ZIC3 | c.741C>G (p.Ile247Met) | COSMIC COSMIC |
| X | g.137567432C>T | CA518857697 | ZIC3 | c.741C>T (p.Ile247=) | |
| X | g.137567433A>C | CA414770584 | ZIC3 | c.742A>C (p.Lys248Gln) | |
| X | g.137567433A>G | CA414770586 | ZIC3 | c.742A>G (p.Lys248Glu) | |
| X | g.137567433A>T | CA414770585 | ZIC3 | c.742A>T (p.Lys248Ter) | |
| X | g.137567434A>C | CA414770587 | ZIC3 | c.743A>C (p.Lys248Thr) | |
| X | g.137567434A>G | CA414770588 | ZIC3 | c.743A>G (p.Lys248Arg) | |
| X | g.137567434A>T | CA414770589 | ZIC3 | c.743A>T (p.Lys248Met) | |
| X | g.137567435G>A | CA518857699 | ZIC3 | c.744G>A (p.Lys248=) | |
| X | g.137567435G>C | CA414770590 | ZIC3 | c.744G>C (p.Lys248Asn) | |
| X | g.137567435G>T | CA414770591 | ZIC3 | c.744G>T (p.Lys248Asn) | |
| X | g.137567436C>A | CA414770592 | ZIC3 | c.745C>A (p.Gln249Lys) | |
| X | g.137567436C= | CA2460728143 | ZIC3 | c.745C= (p.Gln249=) | |
| X | g.137567436C>G | CA414770593 | ZIC3 | c.745C>G (p.Gln249Glu) | |
| X | g.137567436C>T | CA281605 | ZIC3 | c.745C>T (p.Gln249Ter) | ClinVar dbSNP |
| X | g.137567437A= | CA2460728144 | ZIC3 | c.746A= (p.Gln249=) | |
| X | g.137567437A>C | CA414770594 | ZIC3 | c.746A>C (p.Gln249Pro) | |
| X | g.137567437A>G | CA414770595 | ZIC3 | c.746A>G (p.Gln249Arg) | |
| X | g.137567437A>T | CA414770596 | ZIC3 | c.746A>T (p.Gln249Leu) | dbSNP |
| X | g.137567438G>A | CA518857702 | ZIC3 | c.747G>A (p.Gln249=) | |
| X | g.137567438G>C | CA414770598 | ZIC3 | c.747G>C (p.Gln249His) | |
| X | g.137567438G>T | CA414770597 | ZIC3 | c.747G>T (p.Gln249His) | |
| X | g.137567439G>A | CA414770599 | ZIC3 | c.748G>A (p.Glu250Lys) | |
| X | g.137567439G>C | CA414770600 | ZIC3 | c.748G>C (p.Glu250Gln) | |
| X | g.137567439G>T | CA414770601 | ZIC3 | c.748G>T (p.Glu250Ter) | |
| X | g.137567440A>C | CA414770602 | ZIC3 | c.749A>C (p.Glu250Ala) | |
| X | g.137567440A>G | CA414770603 | ZIC3 | c.749A>G (p.Glu250Gly) | |
| X | g.137567440A>T | CA414770604 | ZIC3 | c.749A>T (p.Glu250Val) | |
| X | g.137567441G>A | CA518857718 | ZIC3 | c.750G>A (p.Glu250=) | |
| X | g.137567441G>C | CA414770606 | ZIC3 | c.750G>C (p.Glu250Asp) | |
| X | g.137567441G>T | CA414770605 | ZIC3 | c.750G>T (p.Glu250Asp) | |
| X | g.137567442C>A | CA414770607 | ZIC3 | c.751C>A (p.Leu251Met) | |
| X | g.137567442C= | CA2460728145 | ZIC3 | c.751C= (p.Leu251=) | |
| X | g.137567442C>G | CA414770608 | ZIC3 | c.751C>G (p.Leu251Val) | |
| X | g.137567442C>T | CA10529324 | ZIC3 | c.751C>T (p.Leu251=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567443T>A | CA414770609 | ZIC3 | c.752T>A (p.Leu251Gln) | |
| X | g.137567443T>C | CA414770610 | ZIC3 | c.752T>C (p.Leu251Pro) | |
| X | g.137567443T>G | CA414770611 | ZIC3 | c.752T>G (p.Leu251Arg) | |
| X | g.137567444G>A | CA518857724 | ZIC3 | c.753G>A (p.Leu251=) | |
| X | g.137567444G>C | CA518857722 | ZIC3 | c.753G>C (p.Leu251=) | |
| X | g.137567444G>T | CA518857723 | ZIC3 | c.753G>T (p.Leu251=) | |
| X | g.137567445T>A | CA414770612 | ZIC3 | c.754T>A (p.Ser252Thr) | |
| X | g.137567445T>C | CA414770614 | ZIC3 | c.754T>C (p.Ser252Pro) | |
| X | g.137567445T>G | CA414770613 | ZIC3 | c.754T>G (p.Ser252Ala) | |
| X | g.137567446C>A | CA414770615 | ZIC3 | c.755C>A (p.Ser252Ter) | ClinVar dbSNP |
| X | g.137567446C= | CA2460728146 | ZIC3 | c.755C= (p.Ser252=) | |
| X | g.137567446C>G | CA414770616 | ZIC3 | c.755C>G (p.Ser252Trp) | gnomAD v4 |
| X | g.137567446C>T | CA414770617 | ZIC3 | c.755C>T (p.Ser252Leu) | dbSNP gnomAD v2 COSMIC |
| X | g.137567447G>A | CA518857725 | ZIC3 | c.756G>A (p.Ser252=) | gnomAD v4 COSMIC COSMIC |
| X | g.137567447G>C | CA518857727 | ZIC3 | c.756G>C (p.Ser252=) | gnomAD v4 |
| X | g.137567447G>T | CA518857729 | ZIC3 | c.756G>T (p.Ser252=) | |
| X | g.137567448T>A | CA336368855 | ZIC3 | c.757T>A (p.Cys253Ser) | ClinVar dbSNP |
| X | g.137567448T>C | CA414770618 | ZIC3 | c.757T>C (p.Cys253Arg) | COSMIC COSMIC |
| X | g.137567448T>G | CA414770619 | ZIC3 | c.757T>G (p.Cys253Gly) | |
| X | g.137567448T= | CA2460728147 | ZIC3 | c.757T= (p.Cys253=) | |
| X | g.137567449G>A | CA414770620 | ZIC3 | c.758G>A (p.Cys253Tyr) | |
| X | g.137567449G>C | CA281607 | ZIC3 | c.758G>C (p.Cys253Ser) | ClinVar dbSNP |
| X | g.137567449G= | CA2460728148 | ZIC3 | c.758G= (p.Cys253=) | |
| X | g.137567449G>T | CA414770621 | ZIC3 | c.758G>T (p.Cys253Phe) | |
| X | g.137567450C>A | CA414770622 | ZIC3 | c.759C>A (p.Cys253Ter) | |
| X | g.137567450C>G | CA414770623 | ZIC3 | c.759C>G (p.Cys253Trp) | |
| X | g.137567450C>T | CA518857731 | ZIC3 | c.759C>T (p.Cys253=) | |
| X | g.137567451A>C | CA414770624 | ZIC3 | c.760A>C (p.Lys254Gln) | |
| X | g.137567451A>G | CA414770626 | ZIC3 | c.760A>G (p.Lys254Glu) | |
| X | g.137567451A>T | CA414770625 | ZIC3 | c.760A>T (p.Lys254Ter) | |
| X | g.137567452A>C | CA414770627 | ZIC3 | c.761A>C (p.Lys254Thr) | |
| X | g.137567452A>G | CA414770629 | ZIC3 | c.761A>G (p.Lys254Arg) | |
| X | g.137567452A>T | CA414770628 | ZIC3 | c.761A>T (p.Lys254Met) | |
| X | g.137567453G>A | CA518857734 | ZIC3 | c.762G>A (p.Lys254=) | |
| X | g.137567453G>C | CA414770630 | ZIC3 | c.762G>C (p.Lys254Asn) | |
| X | g.137567453G>T | CA414770631 | ZIC3 | c.762G>T (p.Lys254Asn) | |
| X | g.137567454T>A | CA414770632 | ZIC3 | c.763T>A (p.Trp255Arg) | |
| X | g.137567454T>C | CA414770633 | ZIC3 | c.763T>C (p.Trp255Arg) | |
| X | g.137567454T>G | CA281609 | ZIC3 | c.763T>G (p.Trp255Gly) | ClinVar dbSNP |
| X | g.137567454T= | CA2460728149 | ZIC3 | c.763T= (p.Trp255=) | |
| X | g.137567455G>A | CA414770634 | ZIC3 | c.764G>A (p.Trp255Ter) | |
| X | g.137567455G>C | CA10602717 | ZIC3 | c.764G>C (p.Trp255Ser) | ClinVar dbSNP |
| X | g.137567455G= | CA2460728150 | ZIC3 | c.764G= (p.Trp255=) | |
| X | g.137567455G>T | CA414770635 | ZIC3 | c.764G>T (p.Trp255Leu) | |
| X | g.137567456G>A | CA414770636 | ZIC3 | c.765G>A (p.Trp255Ter) | |
| X | g.137567456G>C | CA414770638 | ZIC3 | c.765G>C (p.Trp255Cys) | |
| X | g.137567456G>T | CA414770637 | ZIC3 | c.765G>T (p.Trp255Cys) | |
| X | g.137567457A>C | CA414770639 | ZIC3 | c.766A>C (p.Ile256Leu) | |
| X | g.137567457A>G | CA414770640 | ZIC3 | c.766A>G (p.Ile256Val) | |
| X | g.137567457A>T | CA414770641 | ZIC3 | c.766A>T (p.Ile256Phe) | |
| X | g.137567458T>A | CA414770642 | ZIC3 | c.767T>A (p.Ile256Asn) | |
| X | g.137567458T>C | CA414770643 | ZIC3 | c.767T>C (p.Ile256Thr) | dbSNP |
| X | g.137567458T>G | CA414770644 | ZIC3 | c.767T>G (p.Ile256Ser) | |
| X | g.137567458T= | CA2460728151 | ZIC3 | c.767T= (p.Ile256=) | |
| X | g.137567459C>A | CA518857737 | ZIC3 | c.768C>A (p.Ile256=) | dbSNP COSMIC |
| X | g.137567459C= | CA2460728152 | ZIC3 | c.768C= (p.Ile256=) | |
| X | g.137567459C>G | CA414770645 | ZIC3 | c.768C>G (p.Ile256Met) | dbSNP gnomAD v4 |
| X | g.137567459C>T | CA518857738 | ZIC3 | c.768C>T (p.Ile256=) | |
| X | g.137567460G>A | CA414770646 | ZIC3 | c.769G>A (p.Asp257Asn) | gnomAD v4 |
| X | g.137567460G>C | CA414770647 | ZIC3 | c.769G>C (p.Asp257His) | |
| X | g.137567460G>T | CA414770648 | ZIC3 | c.769G>T (p.Asp257Tyr) | |
| X | g.137567461A>C | CA414770651 | ZIC3 | c.770A>C (p.Asp257Ala) | |
| X | g.137567461A>G | CA414770650 | ZIC3 | c.770A>G (p.Asp257Gly) | COSMIC COSMIC |
| X | g.137567461A>T | CA414770649 | ZIC3 | c.770A>T (p.Asp257Val) | |
| X | g.137567462C>A | CA414770652 | ZIC3 | c.771C>A (p.Asp257Glu) | gnomAD v4 |
| X | g.137567462C= | CA2460728153 | ZIC3 | c.771C= (p.Asp257=) | |
| X | g.137567462C>G | CA414770653 | ZIC3 | c.771C>G (p.Asp257Glu) | |
| X | g.137567462C>T | CA10529325 | ZIC3 | c.771C>T (p.Asp257=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567463G>A | CA414770654 | ZIC3 | c.772G>A (p.Glu258Lys) | |
| X | g.137567463G>C | CA414770655 | ZIC3 | c.772G>C (p.Glu258Gln) | |
| X | g.137567463G>T | CA414770656 | ZIC3 | c.772G>T (p.Glu258Ter) | |
| X | g.137567464A= | CA2460728154 | ZIC3 | c.773A= (p.Glu258=) | |
| X | g.137567464A>C | CA414770657 | ZIC3 | c.773A>C (p.Glu258Ala) | dbSNP |
| X | g.137567464A>G | CA414770658 | ZIC3 | c.773A>G (p.Glu258Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567464A>T | CA414770659 | ZIC3 | c.773A>T (p.Glu258Val) | |
| X | g.137567465G>A | CA518857742 | ZIC3 | c.774G>A (p.Glu258=) | gnomAD v4 |
| X | g.137567465G>C | CA414770660 | ZIC3 | c.774G>C (p.Glu258Asp) | |
| X | g.137567465G>T | CA414770661 | ZIC3 | c.774G>T (p.Glu258Asp) | |
| X | g.137567466G>A | CA414770664 | ZIC3 | c.775G>A (p.Ala259Thr) | |
| X | g.137567466G>C | CA414770663 | ZIC3 | c.775G>C (p.Ala259Pro) | dbSNP |
| X | g.137567466G= | CA2460728155 | ZIC3 | c.775G= (p.Ala259=) | |
| X | g.137567466G>T | CA414770662 | ZIC3 | c.775G>T (p.Ala259Ser) | |
| X | g.137567467C>A | CA414770665 | ZIC3 | c.776C>A (p.Ala259Asp) | |
| X | g.137567467C= | CA2460728156 | ZIC3 | c.776C= (p.Ala259=) | |
| X | g.137567467C>G | CA414770666 | ZIC3 | c.776C>G (p.Ala259Gly) | |
| X | g.137567467C>T | CA336368859 | ZIC3 | c.776C>T (p.Ala259Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567468T>A | CA518857747 | ZIC3 | c.777T>A (p.Ala259=) | dbSNP gnomAD v4 |
| X | g.137567468T>C | CA518857748 | ZIC3 | c.777T>C (p.Ala259=) | |
| X | g.137567468T>G | CA518857749 | ZIC3 | c.777T>G (p.Ala259=) | |
| X | g.137567468T= | CA2460728157 | ZIC3 | c.777T= (p.Ala259=) | |
| X | g.137567469C>A | CA414770667 | ZIC3 | c.778C>A (p.Gln260Lys) | |
| X | g.137567469C>G | CA414770668 | ZIC3 | c.778C>G (p.Gln260Glu) | |
| X | g.137567469C>T | CA414770669 | ZIC3 | c.778C>T (p.Gln260Ter) | |
| X | g.137567470A>C | CA414770670 | ZIC3 | c.779A>C (p.Gln260Pro) | |
| X | g.137567470A>G | CA414770671 | ZIC3 | c.779A>G (p.Gln260Arg) | |
| X | g.137567470A>T | CA414770672 | ZIC3 | c.779A>T (p.Gln260Leu) | |
| X | g.137567471G>A | CA518857752 | ZIC3 | c.780G>A (p.Gln260=) | |
| X | g.137567471G>C | CA414770673 | ZIC3 | c.780G>C (p.Gln260His) | |
| X | g.137567471G>T | CA414770674 | ZIC3 | c.780G>T (p.Gln260His) | |
| X | g.137567472C>A | CA414770675 | ZIC3 | c.781C>A (p.Leu261Met) | |
| X | g.137567472C= | CA2460728158 | ZIC3 | c.781C= (p.Leu261=) | |
| X | g.137567472C>G | CA414770676 | ZIC3 | c.781C>G (p.Leu261Val) | |
| X | g.137567472C>T | CA518857753 | ZIC3 | c.781C>T (p.Leu261=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567473T>A | CA414770677 | ZIC3 | c.782T>A (p.Leu261Gln) | |
| X | g.137567473T>C | CA414770679 | ZIC3 | c.782T>C (p.Leu261Pro) | |
| X | g.137567473T>G | CA414770678 | ZIC3 | c.782T>G (p.Leu261Arg) | |
| X | g.137567474G>A | CA10587385 | ZIC3 | c.783G>A (p.Leu261=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.137567474G>C | CA518857756 | ZIC3 | c.783G>C (p.Leu261=) | |
| X | g.137567474G= | CA2460728159 | ZIC3 | c.783G= (p.Leu261=) | |
| X | g.137567474G>T | CA518857757 | ZIC3 | c.783G>T (p.Leu261=) | |
| X | g.137567475A>C | CA414770680 | ZIC3 | c.784A>C (p.Ser262Arg) | |
| X | g.137567475A>G | CA414770681 | ZIC3 | c.784A>G (p.Ser262Gly) | |
| X | g.137567475A>T | CA414770682 | ZIC3 | c.784A>T (p.Ser262Cys) | |
| X | g.137567476G>A | CA414770683 | ZIC3 | c.785G>A (p.Ser262Asn) | gnomAD v4 |
| X | g.137567476G>C | CA414770684 | ZIC3 | c.785G>C (p.Ser262Thr) | |
| X | g.137567476G>T | CA414770685 | ZIC3 | c.785G>T (p.Ser262Ile) | COSMIC COSMIC |
| X | g.137567477C>A | CA414770686 | ZIC3 | c.786C>A (p.Ser262Arg) | |
| X | g.137567477C>G | CA414770687 | ZIC3 | c.786C>G (p.Ser262Arg) | |
| X | g.137567477C>T | CA518857761 | ZIC3 | c.786C>T (p.Ser262=) | gnomAD v4 COSMIC |
| X | g.137567478C>A | CA518857762 | ZIC3 | c.787C>A (p.Arg263=) | |
| X | g.137567478C>G | CA414770688 | ZIC3 | c.787C>G (p.Arg263Gly) | |
| X | g.137567478C>T | CA414770689 | ZIC3 | c.787C>T (p.Arg263Trp) | |
| X | g.137567479G>A | CA414770692 | ZIC3 | c.788G>A (p.Arg263Gln) | COSMIC COSMIC |
| X | g.137567479G>C | CA414770691 | ZIC3 | c.788G>C (p.Arg263Pro) | |
| X | g.137567479G>T | CA414770690 | ZIC3 | c.788G>T (p.Arg263Leu) | |
| X | g.137567480G>A | CA518857764 | ZIC3 | c.789G>A (p.Arg263=) | COSMIC |
| X | g.137567480G>C | CA518857765 | ZIC3 | c.789G>C (p.Arg263=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567480G= | CA2460728160 | ZIC3 | c.789G= (p.Arg263=) | |
| X | g.137567480G>T | CA518857769 | ZIC3 | c.789G>T (p.Arg263=) | |
| X | g.137567481C>A | CA414770695 | ZIC3 | c.790C>A (p.Pro264Thr) | |
| X | g.137567481C>G | CA414770693 | ZIC3 | c.790C>G (p.Pro264Ala) | |
| X | g.137567481C>T | CA414770694 | ZIC3 | c.790C>T (p.Pro264Ser) | |
| X | g.137567482C>A | CA414770696 | ZIC3 | c.791C>A (p.Pro264His) | |
| X | g.137567482C>G | CA414770697 | ZIC3 | c.791C>G (p.Pro264Arg) | |
| X | g.137567482C>T | CA414770698 | ZIC3 | c.791C>T (p.Pro264Leu) | |
| X | g.137567483C>A | CA518857770 | ZIC3 | c.792C>A (p.Pro264=) | |
| X | g.137567483C>G | CA518857771 | ZIC3 | c.792C>G (p.Pro264=) | |
| X | g.137567483C>T | CA518857772 | ZIC3 | c.792C>T (p.Pro264=) | |
| X | g.137567484A>C | CA414770699 | ZIC3 | c.793A>C (p.Lys265Gln) | |
| X | g.137567484A>G | CA414770700 | ZIC3 | c.793A>G (p.Lys265Glu) | |
| X | g.137567484A>T | CA414770701 | ZIC3 | c.793A>T (p.Lys265Ter) | |
| X | g.137567488_137567490del | CA2694828746 | ZIC3 | c.797_799del (p.Lys266del) | gnomAD v4 |
| X | g.137567485A>C | CA414770702 | ZIC3 | c.794A>C (p.Lys265Thr) | |
| X | g.137567485A>G | CA414770703 | ZIC3 | c.794A>G (p.Lys265Arg) | |
| X | g.137567485A>T | CA414770704 | ZIC3 | c.794A>T (p.Lys265Met) | |
| X | g.137567486G>A | CA518857773 | ZIC3 | c.795G>A (p.Lys265=) | COSMIC COSMIC |
| X | g.137567486G>C | CA414770705 | ZIC3 | c.795G>C (p.Lys265Asn) | COSMIC COSMIC |
| X | g.137567486G>T | CA414770706 | ZIC3 | c.795G>T (p.Lys265Asn) | |
| X | g.137567487A>C | CA414770709 | ZIC3 | c.796A>C (p.Lys266Gln) | |
| X | g.137567487A>G | CA414770708 | ZIC3 | c.796A>G (p.Lys266Glu) | |
| X | g.137567487A>T | CA414770707 | ZIC3 | c.796A>T (p.Lys266Ter) | |
| X | g.137567488A>C | CA414770710 | ZIC3 | c.797A>C (p.Lys266Thr) | COSMIC COSMIC |
| X | g.137567488A>G | CA414770711 | ZIC3 | c.797A>G (p.Lys266Arg) | |
| X | g.137567488A>T | CA414770712 | ZIC3 | c.797A>T (p.Lys266Met) | |
| X | g.137567489G>A | CA336368862 | ZIC3 | c.798G>A (p.Lys266=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567489G>C | CA414770713 | ZIC3 | c.798G>C (p.Lys266Asn) | |
| X | g.137567489G= | CA2460728161 | ZIC3 | c.798G= (p.Lys266=) | |
| X | g.137567489G>T | CA414770714 | ZIC3 | c.798G>T (p.Lys266Asn) | |
| X | g.137567490A>C | CA414770715 | ZIC3 | c.799A>C (p.Ser267Arg) | |
| X | g.137567490A>G | CA414770716 | ZIC3 | c.799A>G (p.Ser267Gly) | |
| X | g.137567490A>T | CA414770717 | ZIC3 | c.799A>T (p.Ser267Cys) | |
| X | g.137567491G>A | CA414770718 | ZIC3 | c.800G>A (p.Ser267Asn) | |
| X | g.137567491G>C | CA414770719 | ZIC3 | c.800G>C (p.Ser267Thr) | |
| X | g.137567491G>T | CA414770720 | ZIC3 | c.800G>T (p.Ser267Ile) | |
| X | g.137567492C>A | CA414770721 | ZIC3 | c.801C>A (p.Ser267Arg) | |
| X | g.137567492C>G | CA414770722 | ZIC3 | c.801C>G (p.Ser267Arg) | |
| X | g.137567492C>T | CA518857774 | ZIC3 | c.801C>T (p.Ser267=) | |
| X | g.137567493T>A | CA414770724 | ZIC3 | c.802T>A (p.Cys268Ser) | |
| X | g.137567493T>C | CA414770725 | ZIC3 | c.802T>C (p.Cys268Arg) | |
| X | g.137567493T>G | CA414770723 | ZIC3 | c.802T>G (p.Cys268Gly) | |
| X | g.137567494G>A | CA414770726 | ZIC3 | c.803G>A (p.Cys268Tyr) | |
| X | g.137567494G>C | CA414770727 | ZIC3 | c.803G>C (p.Cys268Ser) | |
| X | g.137567494G>T | CA414770728 | ZIC3 | c.803G>T (p.Cys268Phe) | |
| X | g.137567495C>A | CA281603 | ZIC3 | c.804C>A (p.Cys268Ter) | ClinVar dbSNP |
| X | g.137567495C= | CA2460728162 | ZIC3 | c.804C= (p.Cys268=) | |
| X | g.137567495C>G | CA414770729 | ZIC3 | c.804C>G (p.Cys268Trp) | |
| X | g.137567495C>T | CA518857775 | ZIC3 | c.804C>T (p.Cys268=) | COSMIC |
| X | g.137567496G>A | CA414770730 | ZIC3 | c.805G>A (p.Asp269Asn) | |
| X | g.137567496G>C | CA414770731 | ZIC3 | c.805G>C (p.Asp269His) | |
| X | g.137567496G>T | CA414770732 | ZIC3 | c.805G>T (p.Asp269Tyr) | |
| X | g.137567497A>C | CA414770733 | ZIC3 | c.806A>C (p.Asp269Ala) | |
| X | g.137567497A>G | CA414770734 | ZIC3 | c.806A>G (p.Asp269Gly) | |
| X | g.137567497A>T | CA414770735 | ZIC3 | c.806A>T (p.Asp269Val) | |
| X | g.137567498C>A | CA414770736 | ZIC3 | c.807C>A (p.Asp269Glu) | |
| X | g.137567498C>G | CA414770737 | ZIC3 | c.807C>G (p.Asp269Glu) | |
| X | g.137567498C>T | CA518857776 | ZIC3 | c.807C>T (p.Asp269=) | |
| X | g.137567499C>A | CA518857777 | ZIC3 | c.808C>A (p.Arg270=) | COSMIC COSMIC |
| X | g.137567499C>G | CA414770738 | ZIC3 | c.808C>G (p.Arg270Gly) | |
| X | g.137567499C>T | CA414770739 | ZIC3 | c.808C>T (p.Arg270Trp) | gnomAD v4 |
| X | g.137567500G>A | CA414770740 | ZIC3 | c.809G>A (p.Arg270Gln) | dbSNP |
| X | g.137567500G>C | CA414770741 | ZIC3 | c.809G>C (p.Arg270Pro) | |
| X | g.137567500G= | CA2460728163 | ZIC3 | c.809G= (p.Arg270=) | |
| X | g.137567500G>T | CA414770742 | ZIC3 | c.809G>T (p.Arg270Leu) | |
| X | g.137567501del | CA2573159261 | ZIC3 | c.810del (p.Thr271ProfsTer9) | ClinVar dbSNP |
| X | g.137567501G>A | CA518857778 | ZIC3 | c.810G>A (p.Arg270=) | |
| X | g.137567501G>C | CA518857779 | ZIC3 | c.810G>C (p.Arg270=) | |
| X | g.137567501G>T | CA518857780 | ZIC3 | c.810G>T (p.Arg270=) | |
| X | g.137567502A>C | CA414770743 | ZIC3 | c.811A>C (p.Thr271Pro) | |
| X | g.137567502A>G | CA414770744 | ZIC3 | c.811A>G (p.Thr271Ala) | |
| X | g.137567502A>T | CA414770745 | ZIC3 | c.811A>T (p.Thr271Ser) | |
| X | g.137567503C>A | CA414770746 | ZIC3 | c.812C>A (p.Thr271Asn) | |
| X | g.137567503C>G | CA414770747 | ZIC3 | c.812C>G (p.Thr271Ser) | |
| X | g.137567503C>T | CA414770748 | ZIC3 | c.812C>T (p.Thr271Ile) | |
| X | g.137567504C>A | CA518857781 | ZIC3 | c.813C>A (p.Thr271=) | |
| X | g.137567504C= | CA2460728164 | ZIC3 | c.813C= (p.Thr271=) | |
| X | g.137567504C>G | CA518857782 | ZIC3 | c.813C>G (p.Thr271=) | dbSNP |
| X | g.137567504C>T | CA518857783 | ZIC3 | c.813C>T (p.Thr271=) | COSMIC |