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.137567153C>A | CA10529294 | ZIC3 | c.462C>A (p.Pro154=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567153C= | CA2460728050 | ZIC3 | c.462C= (p.Pro154=) | |
| X | g.137567153C>G | CA518857736 | ZIC3 | c.462C>G (p.Pro154=) | dbSNP gnomAD v4 |
| X | g.137567153C>T | CA518857735 | ZIC3 | c.462C>T (p.Pro154=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567154G>A | CA414769976 | ZIC3 | c.463G>A (p.Glu155Lys) | gnomAD v4 |
| X | g.137567154G>C | CA414769977 | ZIC3 | c.463G>C (p.Glu155Gln) | |
| X | g.137567154G>T | CA414769978 | ZIC3 | c.463G>T (p.Glu155Ter) | ClinVar |
| X | g.137567155A>C | CA414769979 | ZIC3 | c.464A>C (p.Glu155Ala) | |
| X | g.137567155A>G | CA414769980 | ZIC3 | c.464A>G (p.Glu155Gly) | |
| X | g.137567155A>T | CA414769981 | ZIC3 | c.464A>T (p.Glu155Val) | |
| X | g.137567156G>A | CA10529295 | ZIC3 | c.465G>A (p.Glu155=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567156G>C | CA414769982 | ZIC3 | c.465G>C (p.Glu155Asp) | |
| X | g.137567156G= | CA2460728051 | ZIC3 | c.465G= (p.Glu155=) | |
| X | g.137567156G>T | CA414769983 | ZIC3 | c.465G>T (p.Glu155Asp) | |
| X | g.137567157C>A | CA414769986 | ZIC3 | c.466C>A (p.Pro156Thr) | |
| X | g.137567157C>G | CA414769984 | ZIC3 | c.466C>G (p.Pro156Ala) | |
| X | g.137567157C>T | CA414769985 | ZIC3 | c.466C>T (p.Pro156Ser) | gnomAD v4 |
| X | g.137567158C>A | CA414769987 | ZIC3 | c.467C>A (p.Pro156His) | |
| X | g.137567158C>G | CA414769988 | ZIC3 | c.467C>G (p.Pro156Arg) | |
| X | g.137567158C>T | CA414769989 | ZIC3 | c.467C>T (p.Pro156Leu) | gnomAD v4 |
| X | g.137567159C>A | CA518857739 | ZIC3 | c.468C>A (p.Pro156=) | |
| X | g.137567159C>G | CA518857740 | ZIC3 | c.468C>G (p.Pro156=) | |
| X | g.137567159C>T | CA518857741 | ZIC3 | c.468C>T (p.Pro156=) | |
| X | g.137567160C>A | CA336368814 | ZIC3 | c.469C>A (p.Pro157Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567160C= | CA2460728052 | ZIC3 | c.469C= (p.Pro157=) | |
| X | g.137567160C>G | CA414769990 | ZIC3 | c.469C>G (p.Pro157Ala) | |
| X | g.137567160C>T | CA414769991 | ZIC3 | c.469C>T (p.Pro157Ser) | gnomAD v4 |
| X | g.137567161C>A | CA414769992 | ZIC3 | c.470C>A (p.Pro157His) | |
| X | g.137567161C>G | CA414769993 | ZIC3 | c.470C>G (p.Pro157Arg) | |
| X | g.137567161C>T | CA414769994 | ZIC3 | c.470C>T (p.Pro157Leu) | |
| X | g.137567162T>A | CA518857743 | ZIC3 | c.471T>A (p.Pro157=) | |
| X | g.137567162T>C | CA518857744 | ZIC3 | c.471T>C (p.Pro157=) | |
| X | g.137567162T>G | CA518857745 | ZIC3 | c.471T>G (p.Pro157=) | |
| X | g.137567163A= | CA2460728053 | ZIC3 | c.472A= (p.Ser158=) | |
| X | g.137567163A>C | CA414769995 | ZIC3 | c.472A>C (p.Ser158Arg) | |
| X | g.137567163A>G | CA10529296 | ZIC3 | c.472A>G (p.Ser158Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567163A>T | CA414769996 | ZIC3 | c.472A>T (p.Ser158Cys) | |
| X | g.137567164G>A | CA414769998 | ZIC3 | c.473G>A (p.Ser158Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567164G>C | CA414769999 | ZIC3 | c.473G>C (p.Ser158Thr) | |
| X | g.137567164G= | CA2460728054 | ZIC3 | c.473G= (p.Ser158=) | |
| X | g.137567164G>T | CA414769997 | ZIC3 | c.473G>T (p.Ser158Ile) | |
| X | g.137567165C>A | CA414770000 | ZIC3 | c.474C>A (p.Ser158Arg) | gnomAD v4 |
| X | g.137567165C>G | CA414770001 | ZIC3 | c.474C>G (p.Ser158Arg) | |
| X | g.137567165C>T | CA518857746 | ZIC3 | c.474C>T (p.Ser158=) | |
| X | g.137567165_137567169delinsCTACT | CA2460728055 | ZIC3 | c.474_478delinsCTACT (p.Ser158=) | |
| X | g.137567166T>A | CA414770002 | ZIC3 | c.475T>A (p.Tyr159Asn) | |
| X | g.137567166T>C | CA414770003 | ZIC3 | c.475T>C (p.Tyr159His) | |
| X | g.137567166T>G | CA414770004 | ZIC3 | c.475T>G (p.Tyr159Asp) | |
| X | g.137567167_137567170del | CA658659048 | ZIC3 | c.476_479del (p.Tyr159CysfsTer?) | ClinVar dbSNP |
| X | g.137567167A>C | CA414770005 | ZIC3 | c.476A>C (p.Tyr159Ser) | |
| X | g.137567167A>G | CA414770006 | ZIC3 | c.476A>G (p.Tyr159Cys) | |
| X | g.137567167A>T | CA414770007 | ZIC3 | c.476A>T (p.Tyr159Phe) | |
| X | g.137567168C>A | CA414770008 | ZIC3 | c.477C>A (p.Tyr159Ter) | |
| X | g.137567168C>G | CA414770009 | ZIC3 | c.477C>G (p.Tyr159Ter) | |
| X | g.137567168C>T | CA518857750 | ZIC3 | c.477C>T (p.Tyr159=) | |
| X | g.137567169T>A | CA414770010 | ZIC3 | c.478T>A (p.Leu160Met) | |
| X | g.137567169T>C | CA518857751 | ZIC3 | c.478T>C (p.Leu160=) | |
| X | g.137567169T>G | CA414770011 | ZIC3 | c.478T>G (p.Leu160Val) | |
| X | g.137567170T>A | CA414770012 | ZIC3 | c.479T>A (p.Leu160Ter) | |
| X | g.137567170T>C | CA414770013 | ZIC3 | c.479T>C (p.Leu160Ser) | |
| X | g.137567170T>G | CA414770014 | ZIC3 | c.479T>G (p.Leu160Trp) | |
| X | g.137567171G>A | CA518857754 | ZIC3 | c.480G>A (p.Leu160=) | |
| X | g.137567171G>C | CA414770015 | ZIC3 | c.480G>C (p.Leu160Phe) | gnomAD v4 |
| X | g.137567171G>T | CA414770016 | ZIC3 | c.480G>T (p.Leu160Phe) | |
| X | g.137567172C>A | CA414770017 | ZIC3 | c.481C>A (p.Leu161Met) | |
| X | g.137567172C= | CA2460728056 | ZIC3 | c.481C= (p.Leu161=) | |
| X | g.137567172C>G | CA414770018 | ZIC3 | c.481C>G (p.Leu161Val) | |
| X | g.137567172C>T | CA518857755 | ZIC3 | c.481C>T (p.Leu161=) | dbSNP |
| X | g.137567173T>A | CA414770019 | ZIC3 | c.482T>A (p.Leu161Gln) | |
| X | g.137567173T>C | CA414770020 | ZIC3 | c.482T>C (p.Leu161Pro) | |
| X | g.137567173T>G | CA414770021 | ZIC3 | c.482T>G (p.Leu161Arg) | |
| X | g.137567174G>A | CA518857758 | ZIC3 | c.483G>A (p.Leu161=) | gnomAD v4 |
| X | g.137567174G>C | CA518857759 | ZIC3 | c.483G>C (p.Leu161=) | |
| X | g.137567174G>T | CA518857760 | ZIC3 | c.483G>T (p.Leu161=) | |
| X | g.137567175T>A | CA414770022 | ZIC3 | c.484T>A (p.Phe162Ile) | |
| X | g.137567175T>C | CA414770023 | ZIC3 | c.484T>C (p.Phe162Leu) | |
| X | g.137567175T>G | CA414770024 | ZIC3 | c.484T>G (p.Phe162Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567175T= | CA2460728057 | ZIC3 | c.484T= (p.Phe162=) | |
| X | g.137567176T>A | CA414770025 | ZIC3 | c.485T>A (p.Phe162Tyr) | |
| X | g.137567176T>C | CA414770026 | ZIC3 | c.485T>C (p.Phe162Ser) | |
| X | g.137567176T>G | CA414770027 | ZIC3 | c.485T>G (p.Phe162Cys) | |
| X | g.137567177T>A | CA414770028 | ZIC3 | c.486T>A (p.Phe162Leu) | |
| X | g.137567177T>C | CA518857763 | ZIC3 | c.486T>C (p.Phe162=) | |
| X | g.137567177T>G | CA414770029 | ZIC3 | c.486T>G (p.Phe162Leu) | ClinVar gnomAD v4 |
| X | g.137567178C>A | CA414770032 | ZIC3 | c.487C>A (p.Pro163Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567178C= | CA2460728058 | ZIC3 | c.487C= (p.Pro163=) | |
| X | g.137567178C>G | CA414770031 | ZIC3 | c.487C>G (p.Pro163Ala) | |
| X | g.137567178C>T | CA414770030 | ZIC3 | c.487C>T (p.Pro163Ser) | dbSNP |
| X | g.137567179C>A | CA414770033 | ZIC3 | c.488C>A (p.Pro163His) | COSMIC COSMIC |
| X | g.137567179C>G | CA414770034 | ZIC3 | c.488C>G (p.Pro163Arg) | |
| X | g.137567179C>T | CA414770035 | ZIC3 | c.488C>T (p.Pro163Leu) | COSMIC |
| X | g.137567180C>A | CA518857766 | ZIC3 | c.489C>A (p.Pro163=) | |
| X | g.137567180C= | CA2460728059 | ZIC3 | c.489C= (p.Pro163=) | |
| X | g.137567180C>G | CA518857767 | ZIC3 | c.489C>G (p.Pro163=) | |
| X | g.137567180C>T | CA518857768 | ZIC3 | c.489C>T (p.Pro163=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567181G>A | CA414770036 | ZIC3 | c.490G>A (p.Gly164Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567181G>C | CA414770037 | ZIC3 | c.490G>C (p.Gly164Arg) | |
| X | g.137567181G= | CA2460728060 | ZIC3 | c.490G= (p.Gly164=) | |
| X | g.137567181G>T | CA414770038 | ZIC3 | c.490G>T (p.Gly164Trp) | |
| X | g.137567182G>A | CA10529297 | ZIC3 | c.491G>A (p.Gly164Glu) | dbSNP ExAC COSMIC |
| X | g.137567182G>C | CA414770040 | ZIC3 | c.491G>C (p.Gly164Ala) | |
| X | g.137567182G= | CA2460728061 | ZIC3 | c.491G= (p.Gly164=) | |
| X | g.137567182G>T | CA414770039 | ZIC3 | c.491G>T (p.Gly164Val) | gnomAD v4 |
| X | g.137567183G>A | CA518857249 | ZIC3 | c.492G>A (p.Gly164=) | |
| X | g.137567183G>C | CA518857250 | ZIC3 | c.492G>C (p.Gly164=) | gnomAD v4 |
| X | g.137567183G>T | CA518857251 | ZIC3 | c.492G>T (p.Gly164=) | |
| X | g.137567184C>A | CA414770041 | ZIC3 | c.493C>A (p.Leu165Met) | |
| X | g.137567184C>G | CA414770042 | ZIC3 | c.493C>G (p.Leu165Val) | |
| X | g.137567184C>T | CA518857254 | ZIC3 | c.493C>T (p.Leu165=) | |
| X | g.137567185T>A | CA414770043 | ZIC3 | c.494T>A (p.Leu165Gln) | |
| X | g.137567185T>C | CA414770044 | ZIC3 | c.494T>C (p.Leu165Pro) | |
| X | g.137567185T>G | CA414770045 | ZIC3 | c.494T>G (p.Leu165Arg) | |
| X | g.137567186G>A | CA518857259 | ZIC3 | c.495G>A (p.Leu165=) | |
| X | g.137567186G>C | CA518857261 | ZIC3 | c.495G>C (p.Leu165=) | |
| X | g.137567186G= | CA2460728062 | ZIC3 | c.495G= (p.Leu165=) | |
| X | g.137567186G>T | CA10529298 | ZIC3 | c.495G>T (p.Leu165=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567187C>A | CA414770048 | ZIC3 | c.496C>A (p.His166Asn) | |
| X | g.137567187C>G | CA414770046 | ZIC3 | c.496C>G (p.His166Asp) | |
| X | g.137567187C>T | CA414770047 | ZIC3 | c.496C>T (p.His166Tyr) | |
| X | g.137567188A>C | CA414770049 | ZIC3 | c.497A>C (p.His166Pro) | |
| X | g.137567188A>G | CA414770050 | ZIC3 | c.497A>G (p.His166Arg) | gnomAD v4 |
| X | g.137567188A>T | CA414770051 | ZIC3 | c.497A>T (p.His166Leu) | |
| X | g.137567189T>A | CA414770052 | ZIC3 | c.498T>A (p.His166Gln) | |
| X | g.137567189T>C | CA518857272 | ZIC3 | c.498T>C (p.His166=) | |
| X | g.137567189T>G | CA414770053 | ZIC3 | c.498T>G (p.His166Gln) | gnomAD v4 |
| X | g.137567190G>A | CA414770054 | ZIC3 | c.499G>A (p.Glu167Lys) | |
| X | g.137567190G>C | CA414770055 | ZIC3 | c.499G>C (p.Glu167Gln) | |
| X | g.137567190G>T | CA414770056 | ZIC3 | c.499G>T (p.Glu167Ter) | |
| X | g.137567191A>C | CA414770057 | ZIC3 | c.500A>C (p.Glu167Ala) | |
| X | g.137567191A>G | CA414770058 | ZIC3 | c.500A>G (p.Glu167Gly) | |
| X | g.137567191A>T | CA414770059 | ZIC3 | c.500A>T (p.Glu167Val) | |
| X | g.137567192G>A | CA518857281 | ZIC3 | c.501G>A (p.Glu167=) | gnomAD v4 |
| X | g.137567192G>C | CA414770060 | ZIC3 | c.501G>C (p.Glu167Asp) | |
| X | g.137567192G>T | CA414770061 | ZIC3 | c.501G>T (p.Glu167Asp) | |
| X | g.137567193C>A | CA414770062 | ZIC3 | c.502C>A (p.Gln168Lys) | |
| X | g.137567193C>G | CA414770064 | ZIC3 | c.502C>G (p.Gln168Glu) | |
| X | g.137567193C>T | CA414770063 | ZIC3 | c.502C>T (p.Gln168Ter) | |
| X | g.137567194A>C | CA414770065 | ZIC3 | c.503A>C (p.Gln168Pro) | |
| X | g.137567194A>G | CA414770066 | ZIC3 | c.503A>G (p.Gln168Arg) | |
| X | g.137567194A>T | CA414770067 | ZIC3 | c.503A>T (p.Gln168Leu) | |
| X | g.137567194_137567201delinsAGGGCGCT | CA2460728063 | ZIC3 | c.503_510delinsAGGGCGCT (p.Gln168=) | |
| X | g.137567195G>A | CA518857286 | ZIC3 | c.504G>A (p.Gln168=) | |
| X | g.137567195G>C | CA414770068 | ZIC3 | c.504G>C (p.Gln168His) | |
| X | g.137567195G>T | CA414770069 | ZIC3 | c.504G>T (p.Gln168His) | |
| X | g.137567199_137567205del | CA1139667809 | ZIC3 | c.508_514del (p.Ala170ThrfsTer?) | ClinVar dbSNP |
| X | g.137567196G>A | CA414770072 | ZIC3 | c.505G>A (p.Gly169Ser) | |
| X | g.137567196G>C | CA414770071 | ZIC3 | c.505G>C (p.Gly169Arg) | |
| X | g.137567196G>T | CA414770070 | ZIC3 | c.505G>T (p.Gly169Cys) | |
| X | g.137567197G>A | CA336368817 | ZIC3 | c.506G>A (p.Gly169Asp) | dbSNP gnomAD v4 |
| X | g.137567197G>C | CA414770073 | ZIC3 | c.506G>C (p.Gly169Ala) | |
| X | g.137567197G= | CA2460728064 | ZIC3 | c.506G= (p.Gly169=) | |
| X | g.137567197G>T | CA414770074 | ZIC3 | c.506G>T (p.Gly169Val) | |
| X | g.137567198C>A | CA518857292 | ZIC3 | c.507C>A (p.Gly169=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567198C= | CA2460728065 | ZIC3 | c.507C= (p.Gly169=) | |
| X | g.137567198C>G | CA518857291 | ZIC3 | c.507C>G (p.Gly169=) | |
| X | g.137567198C>T | CA518857290 | ZIC3 | c.507C>T (p.Gly169=) | gnomAD v4 |
| X | g.137567199G>A | CA414770075 | ZIC3 | c.508G>A (p.Ala170Thr) | gnomAD v4 |
| X | g.137567199G>C | CA414770076 | ZIC3 | c.508G>C (p.Ala170Pro) | COSMIC COSMIC |
| X | g.137567199G>T | CA414770077 | ZIC3 | c.508G>T (p.Ala170Ser) | |
| X | g.137567200C>A | CA414770078 | ZIC3 | c.509C>A (p.Ala170Asp) | |
| X | g.137567200C>G | CA414770080 | ZIC3 | c.509C>G (p.Ala170Gly) | |
| X | g.137567200C>T | CA414770079 | ZIC3 | c.509C>T (p.Ala170Val) | gnomAD v4 |
| X | g.137567201T>A | CA518857297 | ZIC3 | c.510T>A (p.Ala170=) | gnomAD v4 |
| X | g.137567201T>C | CA518857300 | ZIC3 | c.510T>C (p.Ala170=) | |
| X | g.137567201T>G | CA518857301 | ZIC3 | c.510T>G (p.Ala170=) | |
| X | g.137567202G>A | CA414770081 | ZIC3 | c.511G>A (p.Gly171Arg) | |
| X | g.137567202G>C | CA414770082 | ZIC3 | c.511G>C (p.Gly171Arg) | |
| X | g.137567202G>T | CA414770083 | ZIC3 | c.511G>T (p.Gly171Trp) | |
| X | g.137567203G>A | CA414770084 | ZIC3 | c.512G>A (p.Gly171Glu) | |
| X | g.137567203G>C | CA414770085 | ZIC3 | c.512G>C (p.Gly171Ala) | |
| X | g.137567203G>T | CA414770086 | ZIC3 | c.512G>T (p.Gly171Val) | |
| X | g.137567204G>A | CA10529299 | ZIC3 | c.513G>A (p.Gly171=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.137567204G>C | CA518857310 | ZIC3 | c.513G>C (p.Gly171=) | |
| X | g.137567204G= | CA2460728066 | ZIC3 | c.513G= (p.Gly171=) | |
| X | g.137567204G>T | CA336368819 | ZIC3 | c.513G>T (p.Gly171=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567205C>A | CA414770087 | ZIC3 | c.514C>A (p.His172Asn) | |
| X | g.137567205C>G | CA414770088 | ZIC3 | c.514C>G (p.His172Asp) | |
| X | g.137567205C>T | CA414770089 | ZIC3 | c.514C>T (p.His172Tyr) | gnomAD v4 |
| X | g.137567206A>C | CA414770090 | ZIC3 | c.515A>C (p.His172Pro) | |
| X | g.137567206A>G | CA414770092 | ZIC3 | c.515A>G (p.His172Arg) | |
| X | g.137567206A>T | CA414770091 | ZIC3 | c.515A>T (p.His172Leu) | |
| X | g.137567207C>A | CA414770093 | ZIC3 | c.516C>A (p.His172Gln) | |
| X | g.137567207C>G | CA414770094 | ZIC3 | c.516C>G (p.His172Gln) | |
| X | g.137567207C>T | CA518857315 | ZIC3 | c.516C>T (p.His172=) | |
| X | g.137567208C>A | CA414770095 | ZIC3 | c.517C>A (p.Pro173Thr) | |
| X | g.137567208C>G | CA414770096 | ZIC3 | c.517C>G (p.Pro173Ala) | |
| X | g.137567208C>T | CA414770097 | ZIC3 | c.517C>T (p.Pro173Ser) | gnomAD v4 |
| X | g.137567209C>A | CA414770098 | ZIC3 | c.518C>A (p.Pro173Gln) | |
| X | g.137567209C= | CA2460728067 | ZIC3 | c.518C= (p.Pro173=) | |
| X | g.137567209C>G | CA414770099 | ZIC3 | c.518C>G (p.Pro173Arg) | |
| X | g.137567209C>T | CA414770100 | ZIC3 | c.518C>T (p.Pro173Leu) | dbSNP |
| X | g.137567210G>A | CA518857321 | ZIC3 | c.519G>A (p.Pro173=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567210G>C | CA518857323 | ZIC3 | c.519G>C (p.Pro173=) | |
| X | g.137567210G= | CA2460728068 | ZIC3 | c.519G= (p.Pro173=) | |
| X | g.137567210G>T | CA518857325 | ZIC3 | c.519G>T (p.Pro173=) | |
| X | g.137567211T>A | CA414770101 | ZIC3 | c.520T>A (p.Ser174Thr) | |
| X | g.137567211T>C | CA414770102 | ZIC3 | c.520T>C (p.Ser174Pro) | |
| X | g.137567211T>G | CA414770103 | ZIC3 | c.520T>G (p.Ser174Ala) | |
| X | g.137567212C>A | CA414770104 | ZIC3 | c.521C>A (p.Ser174Ter) | gnomAD v4 |
| X | g.137567212C>G | CA414770105 | ZIC3 | c.521C>G (p.Ser174Trp) | gnomAD v4 |
| X | g.137567212C>T | CA414770106 | ZIC3 | c.521C>T (p.Ser174Leu) | COSMIC COSMIC |
| X | g.137567213G>A | CA518857331 | ZIC3 | c.522G>A (p.Ser174=) | |
| X | g.137567213G>C | CA518857332 | ZIC3 | c.522G>C (p.Ser174=) | |
| X | g.137567213G>T | CA518857334 | ZIC3 | c.522G>T (p.Ser174=) | |
| X | g.137567214C>A | CA414770108 | ZIC3 | c.523C>A (p.Pro175Thr) | COSMIC COSMIC |
| X | g.137567214C= | CA2460728069 | ZIC3 | c.523C= (p.Pro175=) | |
| X | g.137567214C>G | CA10529300 | ZIC3 | c.523C>G (p.Pro175Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567214C>T | CA414770107 | ZIC3 | c.523C>T (p.Pro175Ser) | |
| X | g.137567215C>A | CA414770109 | ZIC3 | c.524C>A (p.Pro175His) | |
| X | g.137567215C= | CA2460728070 | ZIC3 | c.524C= (p.Pro175=) | |
| X | g.137567215C>G | CA414770110 | ZIC3 | c.524C>G (p.Pro175Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567215C>T | CA414770111 | ZIC3 | c.524C>T (p.Pro175Leu) | gnomAD v4 |
| X | g.137567216C>A | CA518857337 | ZIC3 | c.525C>A (p.Pro175=) | |
| X | g.137567216C>G | CA518857339 | ZIC3 | c.525C>G (p.Pro175=) | |
| X | g.137567216C>T | CA518857341 | ZIC3 | c.525C>T (p.Pro175=) | gnomAD v4 |
| X | g.137567217A= | CA2460728071 | ZIC3 | c.526A= (p.Thr176=) | |
| X | g.137567217A>C | CA414770112 | ZIC3 | c.526A>C (p.Thr176Pro) | |
| X | g.137567217A>G | CA10529301 | ZIC3 | c.526A>G (p.Thr176Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567217A>T | CA414770113 | ZIC3 | c.526A>T (p.Thr176Ser) | |
| X | g.137567218C>A | CA414770114 | ZIC3 | c.527C>A (p.Thr176Lys) | |
| X | g.137567218C= | CA2460728072 | ZIC3 | c.527C= (p.Thr176=) | |
| X | g.137567218C>G | CA414770115 | ZIC3 | c.527C>G (p.Thr176Arg) | |
| X | g.137567218C>T | CA414770116 | ZIC3 | c.527C>T (p.Thr176Ile) | dbSNP |
| X | g.137567219A>C | CA518857344 | ZIC3 | c.528A>C (p.Thr176=) | |
| X | g.137567219A>G | CA518857346 | ZIC3 | c.528A>G (p.Thr176=) | |
| X | g.137567219A>T | CA518857343 | ZIC3 | c.528A>T (p.Thr176=) | |
| X | g.137567220G>A | CA414770117 | ZIC3 | c.529G>A (p.Gly177Arg) | |
| X | g.137567220G>C | CA414770118 | ZIC3 | c.529G>C (p.Gly177Arg) | |
| X | g.137567220G>T | CA414770119 | ZIC3 | c.529G>T (p.Gly177Trp) | |
| X | g.137567221G>A | CA414770122 | ZIC3 | c.530G>A (p.Gly177Glu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567221G>C | CA414770121 | ZIC3 | c.530G>C (p.Gly177Ala) | dbSNP |
| X | g.137567221G= | CA2460728073 | ZIC3 | c.530G= (p.Gly177=) | |
| X | g.137567221G>T | CA414770120 | ZIC3 | c.530G>T (p.Gly177Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567222G>A | CA518857349 | ZIC3 | c.531G>A (p.Gly177=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567222G>C | CA518857350 | ZIC3 | c.531G>C (p.Gly177=) | |
| X | g.137567222G= | CA2460728074 | ZIC3 | c.531G= (p.Gly177=) | |
| X | g.137567222G>T | CA518857351 | ZIC3 | c.531G>T (p.Gly177=) | |
| X | g.137567223C>A | CA414770123 | ZIC3 | c.532C>A (p.His178Asn) | |
| X | g.137567223C>G | CA414770124 | ZIC3 | c.532C>G (p.His178Asp) | |
| X | g.137567223C>T | CA414770125 | ZIC3 | c.532C>T (p.His178Tyr) | |
| X | g.137567224A>C | CA414770126 | ZIC3 | c.533A>C (p.His178Pro) | |
| X | g.137567224A>G | CA414770127 | ZIC3 | c.533A>G (p.His178Arg) | |
| X | g.137567224A>T | CA414770128 | ZIC3 | c.533A>T (p.His178Leu) | |
| X | g.137567225C>A | CA414770129 | ZIC3 | c.534C>A (p.His178Gln) | dbSNP gnomAD v2 |
| X | g.137567225C= | CA2460728075 | ZIC3 | c.534C= (p.His178=) | |
| X | g.137567225C>G | CA10529302 | ZIC3 | c.534C>G (p.His178Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567225C>T | CA518857356 | ZIC3 | c.534C>T (p.His178=) | |
| X | g.137567226G>A | CA414770130 | ZIC3 | c.535G>A (p.Val179Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567226G>C | CA414770131 | ZIC3 | c.535G>C (p.Val179Leu) | |
| X | g.137567226G= | CA2460728076 | ZIC3 | c.535G= (p.Val179=) | |
| X | g.137567226G>T | CA414770132 | ZIC3 | c.535G>T (p.Val179Leu) | |
| X | g.137567226dup | CA891843753 | ZIC3 | c.535dup (p.Val179GlyfsTer19) | ClinVar dbSNP |
| X | g.137567227T>A | CA414770133 | ZIC3 | c.536T>A (p.Val179Glu) | |
| X | g.137567227T>C | CA414770134 | ZIC3 | c.536T>C (p.Val179Ala) | COSMIC COSMIC |
| X | g.137567227T>G | CA414770135 | ZIC3 | c.536T>G (p.Val179Gly) | |
| X | g.137567228G>A | CA518857358 | ZIC3 | c.537G>A (p.Val179=) | |
| X | g.137567228G>C | CA518857359 | ZIC3 | c.537G>C (p.Val179=) | |
| X | g.137567228G>T | CA518857360 | ZIC3 | c.537G>T (p.Val179=) | dbSNP |
| X | g.137567229G>A | CA414770136 | ZIC3 | c.538G>A (p.Asp180Asn) | |
| X | g.137567229G>C | CA414770138 | ZIC3 | c.538G>C (p.Asp180His) | |
| X | g.137567229G>T | CA414770137 | ZIC3 | c.538G>T (p.Asp180Tyr) | |
| X | g.137567230A>C | CA414770139 | ZIC3 | c.539A>C (p.Asp180Ala) | |
| X | g.137567230A>G | CA414770140 | ZIC3 | c.539A>G (p.Asp180Gly) | |
| X | g.137567230A>T | CA414770141 | ZIC3 | c.539A>T (p.Asp180Val) | |
| X | g.137567231C>A | CA414770142 | ZIC3 | c.540C>A (p.Asp180Glu) | |
| X | g.137567231C= | CA2460728077 | ZIC3 | c.540C= (p.Asp180=) | |
| X | g.137567231C>G | CA414770143 | ZIC3 | c.540C>G (p.Asp180Glu) | |
| X | g.137567231C>T | CA518857367 | ZIC3 | c.540C>T (p.Asp180=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567232A>C | CA414770144 | ZIC3 | c.541A>C (p.Asn181His) | |
| X | g.137567232A>G | CA414770145 | ZIC3 | c.541A>G (p.Asn181Asp) | |
| X | g.137567232A>T | CA414770146 | ZIC3 | c.541A>T (p.Asn181Tyr) | |
| X | g.137567233A>C | CA414770147 | ZIC3 | c.542A>C (p.Asn181Thr) | |
| X | g.137567233A>G | CA414770148 | ZIC3 | c.542A>G (p.Asn181Ser) | |
| X | g.137567233A>T | CA414770149 | ZIC3 | c.542A>T (p.Asn181Ile) | |
| X | g.137567234C>A | CA414770150 | ZIC3 | c.543C>A (p.Asn181Lys) | |
| X | g.137567234C>G | CA414770151 | ZIC3 | c.543C>G (p.Asn181Lys) | |
| X | g.137567234C>T | CA518857369 | ZIC3 | c.543C>T (p.Asn181=) | |
| X | g.137567235A>C | CA414770152 | ZIC3 | c.544A>C (p.Asn182His) | |
| X | g.137567235A>G | CA414770154 | ZIC3 | c.544A>G (p.Asn182Asp) | |
| X | g.137567235A>T | CA414770153 | ZIC3 | c.544A>T (p.Asn182Tyr) | |
| X | g.137567236A>C | CA414770155 | ZIC3 | c.545A>C (p.Asn182Thr) | |
| X | g.137567236A>G | CA414770157 | ZIC3 | c.545A>G (p.Asn182Ser) | |
| X | g.137567236A>T | CA414770156 | ZIC3 | c.545A>T (p.Asn182Ile) | |
| X | g.137567237C>A | CA414770158 | ZIC3 | c.546C>A (p.Asn182Lys) | |
| X | g.137567237C>G | CA414770159 | ZIC3 | c.546C>G (p.Asn182Lys) | gnomAD v4 |
| X | g.137567237C>T | CA518857378 | ZIC3 | c.546C>T (p.Asn182=) | |
| X | g.137567238C>A | CA414770160 | ZIC3 | c.547C>A (p.Gln183Lys) | |
| X | g.137567238C>G | CA414770161 | ZIC3 | c.547C>G (p.Gln183Glu) | |
| X | g.137567238C>T | CA414770162 | ZIC3 | c.547C>T (p.Gln183Ter) | |
| X | g.137567239A>C | CA414770163 | ZIC3 | c.548A>C (p.Gln183Pro) | |
| X | g.137567239A>G | CA414770164 | ZIC3 | c.548A>G (p.Gln183Arg) | |
| X | g.137567239A>T | CA414770165 | ZIC3 | c.548A>T (p.Gln183Leu) | |
| X | g.137567240G>A | CA518857388 | ZIC3 | c.549G>A (p.Gln183=) | |
| X | g.137567240G>C | CA414770166 | ZIC3 | c.549G>C (p.Gln183His) | |
| X | g.137567240G>T | CA414770167 | ZIC3 | c.549G>T (p.Gln183His) | |
| X | g.137567241G>A | CA414770168 | ZIC3 | c.550G>A (p.Val184Ile) | |
| X | g.137567241G>C | CA414770169 | ZIC3 | c.550G>C (p.Val184Leu) | |
| X | g.137567241G>T | CA414770170 | ZIC3 | c.550G>T (p.Val184Phe) | |
| X | g.137567242T>A | CA414770173 | ZIC3 | c.551T>A (p.Val184Asp) | |
| X | g.137567242T>C | CA414770171 | ZIC3 | c.551T>C (p.Val184Ala) | |
| X | g.137567242T>G | CA414770172 | ZIC3 | c.551T>G (p.Val184Gly) | |
| X | g.137567243C>A | CA518857393 | ZIC3 | c.552C>A (p.Val184=) | |
| X | g.137567243C>G | CA518857394 | ZIC3 | c.552C>G (p.Val184=) | |
| X | g.137567243C>T | CA518857395 | ZIC3 | c.552C>T (p.Val184=) | |
| X | g.137567244C>A | CA414770174 | ZIC3 | c.553C>A (p.His185Asn) | gnomAD v4 COSMIC COSMIC |
| X | g.137567244C>G | CA414770175 | ZIC3 | c.553C>G (p.His185Asp) | |
| X | g.137567244C>T | CA414770176 | ZIC3 | c.553C>T (p.His185Tyr) | |
| X | g.137567245A>C | CA414770177 | ZIC3 | c.554A>C (p.His185Pro) | |
| X | g.137567245A>G | CA414770178 | ZIC3 | c.554A>G (p.His185Arg) | |
| X | g.137567245A>T | CA414770179 | ZIC3 | c.554A>T (p.His185Leu) | |
| X | g.137567246C>A | CA414770180 | ZIC3 | c.555C>A (p.His185Gln) | COSMIC COSMIC |
| X | g.137567246C= | CA2460728078 | ZIC3 | c.555C= (p.His185=) | |
| X | g.137567246C>G | CA414770181 | ZIC3 | c.555C>G (p.His185Gln) | |
| X | g.137567246C>T | CA10529303 | ZIC3 | c.555C>T (p.His185=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567247C>A | CA414770182 | ZIC3 | c.556C>A (p.Leu186Met) | |
| X | g.137567247C>G | CA414770183 | ZIC3 | c.556C>G (p.Leu186Val) | |
| X | g.137567247C>T | CA518857404 | ZIC3 | c.556C>T (p.Leu186=) | |
| X | g.137567248T>A | CA414770185 | ZIC3 | c.557T>A (p.Leu186Gln) | |
| X | g.137567248T>C | CA10529304 | ZIC3 | c.557T>C (p.Leu186Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567248T>G | CA414770184 | ZIC3 | c.557T>G (p.Leu186Arg) | |
| X | g.137567248T= | CA2460728079 | ZIC3 | c.557T= (p.Leu186=) | |
| 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=) |