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.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 |
| X | g.137567505T>A | CA414770749 | ZIC3 | c.814T>A (p.Phe272Ile) | |
| X | g.137567505T>C | CA414770750 | ZIC3 | c.814T>C (p.Phe272Leu) | |
| X | g.137567505T>G | CA414770751 | ZIC3 | c.814T>G (p.Phe272Val) | |
| X | g.137567506T>A | CA414770753 | ZIC3 | c.815T>A (p.Phe272Tyr) | |
| X | g.137567506T>C | CA414770754 | ZIC3 | c.815T>C (p.Phe272Ser) | |
| X | g.137567506T>G | CA414770752 | ZIC3 | c.815T>G (p.Phe272Cys) | |
| X | g.137567507C>A | CA414770755 | ZIC3 | c.816C>A (p.Phe272Leu) | |
| X | g.137567507C= | CA2460728165 | ZIC3 | c.816C= (p.Phe272=) | |
| X | g.137567507C>G | CA414770756 | ZIC3 | c.816C>G (p.Phe272Leu) | |
| X | g.137567507C>T | CA10529326 | ZIC3 | c.816C>T (p.Phe272=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567508A>C | CA414770757 | ZIC3 | c.817A>C (p.Ser273Arg) | |
| X | g.137567508A>G | CA414770759 | ZIC3 | c.817A>G (p.Ser273Gly) | |
| X | g.137567508A>T | CA414770758 | ZIC3 | c.817A>T (p.Ser273Cys) | |
| X | g.137567509G>A | CA414770760 | ZIC3 | c.818G>A (p.Ser273Asn) | |
| X | g.137567509G>C | CA414770761 | ZIC3 | c.818G>C (p.Ser273Thr) | |
| X | g.137567509G>T | CA414770762 | ZIC3 | c.818G>T (p.Ser273Ile) | |
| X | g.137567510C>A | CA414770763 | ZIC3 | c.819C>A (p.Ser273Arg) | |
| X | g.137567510C>G | CA414770764 | ZIC3 | c.819C>G (p.Ser273Arg) | |
| X | g.137567510C>T | CA518857784 | ZIC3 | c.819C>T (p.Ser273=) | |
| X | g.137567511A>C | CA414770765 | ZIC3 | c.820A>C (p.Thr274Pro) | |
| X | g.137567511A>G | CA414770766 | ZIC3 | c.820A>G (p.Thr274Ala) | |
| X | g.137567511A>T | CA414770767 | ZIC3 | c.820A>T (p.Thr274Ser) | |
| X | g.137567512C>A | CA414770768 | ZIC3 | c.821C>A (p.Thr274Asn) | |
| X | g.137567512C>G | CA414770769 | ZIC3 | c.821C>G (p.Thr274Ser) | COSMIC COSMIC |
| X | g.137567512C>T | CA414770770 | ZIC3 | c.821C>T (p.Thr274Ile) | |
| X | g.137567513C>A | CA518857786 | ZIC3 | c.822C>A (p.Thr274=) | |
| X | g.137567513C>G | CA518857787 | ZIC3 | c.822C>G (p.Thr274=) | COSMIC |
| X | g.137567513C>T | CA518857785 | ZIC3 | c.822C>T (p.Thr274=) | |
| X | g.137567514A= | CA2460728166 | ZIC3 | c.823A= (p.Met275=) | |
| X | g.137567514A>C | CA414770774 | ZIC3 | c.823A>C (p.Met275Leu) | |
| X | g.137567514A>G | CA414770773 | ZIC3 | c.823A>G (p.Met275Val) | gnomAD v4 |
| X | g.137567514A>T | CA414770772 | ZIC3 | c.823A>T (p.Met275Leu) | dbSNP |
| X | g.137567515T>A | CA414770775 | ZIC3 | c.824T>A (p.Met275Lys) | |
| X | g.137567515T>C | CA414770776 | ZIC3 | c.824T>C (p.Met275Thr) | |
| X | g.137567515T>G | CA414770777 | ZIC3 | c.824T>G (p.Met275Arg) | |
| X | g.137567516G>A | CA414770778 | ZIC3 | c.825G>A (p.Met275Ile) | |
| X | g.137567516G>C | CA414770779 | ZIC3 | c.825G>C (p.Met275Ile) | |
| X | g.137567516G>T | CA414770780 | ZIC3 | c.825G>T (p.Met275Ile) | |
| X | g.137567517C>A | CA414770781 | ZIC3 | c.826C>A (p.His276Asn) | |
| X | g.137567517C>G | CA414770782 | ZIC3 | c.826C>G (p.His276Asp) | |
| X | g.137567517C>T | CA414770783 | ZIC3 | c.826C>T (p.His276Tyr) | |
| X | g.137567518A>C | CA414770784 | ZIC3 | c.827A>C (p.His276Pro) | |
| X | g.137567518A>G | CA414770785 | ZIC3 | c.827A>G (p.His276Arg) | |
| X | g.137567518A>T | CA414770786 | ZIC3 | c.827A>T (p.His276Leu) | |
| X | g.137567519T>A | CA414770787 | ZIC3 | c.828T>A (p.His276Gln) | |
| X | g.137567519T>C | CA518857788 | ZIC3 | c.828T>C (p.His276=) | |
| X | g.137567519T>G | CA414770788 | ZIC3 | c.828T>G (p.His276Gln) | |
| X | g.137567520G>A | CA414770789 | ZIC3 | c.829G>A (p.Glu277Lys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.137567520G>C | CA414770790 | ZIC3 | c.829G>C (p.Glu277Gln) | |
| X | g.137567520G= | CA2460728167 | ZIC3 | c.829G= (p.Glu277=) | |
| X | g.137567520G>T | CA414770791 | ZIC3 | c.829G>T (p.Glu277Ter) | |
| X | g.137567521A>C | CA414770792 | ZIC3 | c.830A>C (p.Glu277Ala) | |
| X | g.137567521A>G | CA414770793 | ZIC3 | c.830A>G (p.Glu277Gly) | |
| X | g.137567521A>T | CA414770794 | ZIC3 | c.830A>T (p.Glu277Val) | |
| X | g.137567522G>A | CA518857789 | ZIC3 | c.831G>A (p.Glu277=) | gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.137567522G>C | CA414770795 | ZIC3 | c.831G>C (p.Glu277Asp) | |
| X | g.137567522G>T | CA414770796 | ZIC3 | c.831G>T (p.Glu277Asp) | |
| X | g.137567523C>A | CA414770797 | ZIC3 | c.832C>A (p.Leu278Met) | |
| X | g.137567523C= | CA2460728168 | ZIC3 | c.832C= (p.Leu278=) | |
| X | g.137567523C>G | CA414770798 | ZIC3 | c.832C>G (p.Leu278Val) | |
| X | g.137567523C>T | CA10529327 | ZIC3 | c.832C>T (p.Leu278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567524T>A | CA414770801 | ZIC3 | c.833T>A (p.Leu278Gln) | |
| X | g.137567524T>C | CA414770800 | ZIC3 | c.833T>C (p.Leu278Pro) | |
| X | g.137567524T>G | CA414770799 | ZIC3 | c.833T>G (p.Leu278Arg) | |
| X | g.137567525G>A | CA518857790 | ZIC3 | c.834G>A (p.Leu278=) | |
| X | g.137567525G>C | CA518857791 | ZIC3 | c.834G>C (p.Leu278=) | |
| X | g.137567525G>T | CA518857792 | ZIC3 | c.834G>T (p.Leu278=) | |
| X | g.137567526G>A | CA414770802 | ZIC3 | c.835G>A (p.Val279Met) | |
| X | g.137567526G>C | CA414770803 | ZIC3 | c.835G>C (p.Val279Leu) | |
| X | g.137567526G>T | CA414770804 | ZIC3 | c.835G>T (p.Val279Leu) | |
| X | g.137567527T>A | CA414770805 | ZIC3 | c.836T>A (p.Val279Glu) | dbSNP |
| X | g.137567527T>C | CA414770806 | ZIC3 | c.836T>C (p.Val279Ala) | |
| X | g.137567527T>G | CA414770807 | ZIC3 | c.836T>G (p.Val279Gly) | |
| X | g.137567527T= | CA2460728169 | ZIC3 | c.836T= (p.Val279=) | |
| X | g.137567528G>A | CA518857793 | ZIC3 | c.837G>A (p.Val279=) | |
| X | g.137567528G>C | CA518857794 | ZIC3 | c.837G>C (p.Val279=) | |
| X | g.137567528G>T | CA518857795 | ZIC3 | c.837G>T (p.Val279=) | |
| X | g.137567529A>C | CA414770808 | ZIC3 | c.838A>C (p.Thr280Pro) | |
| X | g.137567529A>G | CA414770809 | ZIC3 | c.838A>G (p.Thr280Ala) | |
| X | g.137567529A>T | CA414770810 | ZIC3 | c.838A>T (p.Thr280Ser) | |
| X | g.137567530C>A | CA414770811 | ZIC3 | c.839C>A (p.Thr280Lys) | |
| X | g.137567530C>G | CA414770812 | ZIC3 | c.839C>G (p.Thr280Arg) | |
| X | g.137567530C>T | CA414770813 | ZIC3 | c.839C>T (p.Thr280Ile) | gnomAD v4 |
| X | g.137567531A>C | CA518857796 | ZIC3 | c.840A>C (p.Thr280=) | |
| X | g.137567531A>G | CA518857797 | ZIC3 | c.840A>G (p.Thr280=) | |
| X | g.137567531A>T | CA518857798 | ZIC3 | c.840A>T (p.Thr280=) | gnomAD v4 |
| X | g.137567532C>A | CA414770815 | ZIC3 | c.841C>A (p.His281Asn) | |
| X | g.137567532C= | CA2460728170 | ZIC3 | c.841C= (p.His281=) | |
| X | g.137567532C>G | CA336368865 | ZIC3 | c.841C>G (p.His281Asp) | dbSNP |
| X | g.137567532C>T | CA414770814 | ZIC3 | c.841C>T (p.His281Tyr) | |
| X | g.137567533A>C | CA414770816 | ZIC3 | c.842A>C (p.His281Pro) | |
| X | g.137567533A>G | CA414770817 | ZIC3 | c.842A>G (p.His281Arg) | |
| X | g.137567533A>T | CA414770818 | ZIC3 | c.842A>T (p.His281Leu) | |
| X | g.137567533_137567534del | CA2695237713 | ZIC3 | c.842_843del (p.His281ArgfsTer?) | |
| X | g.137567534T>A | CA414770819 | ZIC3 | c.843T>A (p.His281Gln) | |
| X | g.137567534T>C | CA518857799 | ZIC3 | c.843T>C (p.His281=) | |
| X | g.137567534T>G | CA414770820 | ZIC3 | c.843T>G (p.His281Gln) | |
| X | g.137567535G>A | CA414770823 | ZIC3 | c.844G>A (p.Val282Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567535G>C | CA414770822 | ZIC3 | c.844G>C (p.Val282Leu) | |
| X | g.137567535G= | CA2460728171 | ZIC3 | c.844G= (p.Val282=) | |
| X | g.137567535G>T | CA414770821 | ZIC3 | c.844G>T (p.Val282Phe) | |
| X | g.137567536T>A | CA414770824 | ZIC3 | c.845T>A (p.Val282Asp) | |
| X | g.137567536T>C | CA414770825 | ZIC3 | c.845T>C (p.Val282Ala) | |
| X | g.137567536T>G | CA414770826 | ZIC3 | c.845T>G (p.Val282Gly) | ClinVar |
| X | g.137567537C>A | CA518857800 | ZIC3 | c.846C>A (p.Val282=) | COSMIC COSMIC |
| X | g.137567537C>G | CA518857801 | ZIC3 | c.846C>G (p.Val282=) | |
| X | g.137567537C>T | CA518857802 | ZIC3 | c.846C>T (p.Val282=) | |
| X | g.137567538A>C | CA414770827 | ZIC3 | c.847A>C (p.Thr283Pro) | |
| X | g.137567538A>G | CA414770828 | ZIC3 | c.847A>G (p.Thr283Ala) | |
| X | g.137567538A>T | CA414770829 | ZIC3 | c.847A>T (p.Thr283Ser) | |
| X | g.137567539C>A | CA414770832 | ZIC3 | c.848C>A (p.Thr283Asn) | |
| X | g.137567539C>G | CA414770830 | ZIC3 | c.848C>G (p.Thr283Ser) | |
| X | g.137567539C>T | CA414770831 | ZIC3 | c.848C>T (p.Thr283Ile) | |
| X | g.137567540C>A | CA518857803 | ZIC3 | c.849C>A (p.Thr283=) | |
| X | g.137567540C= | CA2460728172 | ZIC3 | c.849C= (p.Thr283=) | |
| X | g.137567540C>G | CA518857804 | ZIC3 | c.849C>G (p.Thr283=) | |
| X | g.137567540C>T | CA518857805 | ZIC3 | c.849C>T (p.Thr283=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567541A>C | CA414770833 | ZIC3 | c.850A>C (p.Met284Leu) | |
| X | g.137567541A>G | CA414770834 | ZIC3 | c.850A>G (p.Met284Val) | |
| X | g.137567541A>T | CA414770835 | ZIC3 | c.850A>T (p.Met284Leu) | |
| X | g.137567542T>A | CA414770836 | ZIC3 | c.851T>A (p.Met284Lys) | |
| X | g.137567542T>C | CA414770837 | ZIC3 | c.851T>C (p.Met284Thr) | |
| X | g.137567542T>G | CA414770838 | ZIC3 | c.851T>G (p.Met284Arg) | |
| X | g.137567543G>A | CA414770839 | ZIC3 | c.852G>A (p.Met284Ile) | |
| X | g.137567543G>C | CA414770840 | ZIC3 | c.852G>C (p.Met284Ile) | |
| X | g.137567543G>T | CA414770841 | ZIC3 | c.852G>T (p.Met284Ile) | |
| X | g.137567544G>A | CA414770842 | ZIC3 | c.853G>A (p.Glu285Lys) | gnomAD v4 |
| X | g.137567544G>C | CA414770843 | ZIC3 | c.853G>C (p.Glu285Gln) | |
| X | g.137567544G>T | CA414770844 | ZIC3 | c.853G>T (p.Glu285Ter) | |
| X | g.137567545A= | CA2460728173 | ZIC3 | c.854A= (p.Glu285=) | |
| X | g.137567545A>C | CA414770845 | ZIC3 | c.854A>C (p.Glu285Ala) | |
| X | g.137567545A>G | CA414770847 | ZIC3 | c.854A>G (p.Glu285Gly) | dbSNP COSMIC COSMIC |
| X | g.137567545A>T | CA414770846 | ZIC3 | c.854A>T (p.Glu285Val) | |
| X | g.137567546G>A | CA518857806 | ZIC3 | c.855G>A (p.Glu285=) | |
| X | g.137567546G>C | CA414770848 | ZIC3 | c.855G>C (p.Glu285Asp) | |
| X | g.137567546G>T | CA414770849 | ZIC3 | c.855G>T (p.Glu285Asp) | |
| X | g.137567547C>A | CA414770850 | ZIC3 | c.856C>A (p.His286Asn) | |
| X | g.137567547C>G | CA414770851 | ZIC3 | c.856C>G (p.His286Asp) | |
| X | g.137567547C>T | CA414770852 | ZIC3 | c.856C>T (p.His286Tyr) | |
| X | g.137567548A>C | CA414770853 | ZIC3 | c.857A>C (p.His286Pro) | |
| X | g.137567548A>G | CA414770854 | ZIC3 | c.857A>G (p.His286Arg) | |
| X | g.137567548A>T | CA414770855 | ZIC3 | c.857A>T (p.His286Leu) | |
| X | g.137567549T>A | CA414770856 | ZIC3 | c.858T>A (p.His286Gln) | |
| X | g.137567549T>C | CA518857807 | ZIC3 | c.858T>C (p.His286=) | |
| X | g.137567549T>G | CA414770857 | ZIC3 | c.858T>G (p.His286Gln) | |
| X | g.137567550G>A | CA414770858 | ZIC3 | c.859G>A (p.Val287Met) | gnomAD v4 |
| X | g.137567550G>C | CA414770859 | ZIC3 | c.859G>C (p.Val287Leu) | |
| X | g.137567550G>T | CA414770860 | ZIC3 | c.859G>T (p.Val287Leu) | |
| X | g.137567551_137567555del | CA2499226390 | ZIC3 | c.860_864del (p.Val287GlyfsTer?) | ClinVar dbSNP |
| X | g.137567551T>A | CA414770861 | ZIC3 | c.860T>A (p.Val287Glu) | gnomAD v4 |
| X | g.137567551T>C | CA414770863 | ZIC3 | c.860T>C (p.Val287Ala) | |
| X | g.137567551T>G | CA414770862 | ZIC3 | c.860T>G (p.Val287Gly) | |
| X | g.137567552G>A | CA291688 | ZIC3 | c.861G>A (p.Val287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567552G>C | CA518857808 | ZIC3 | c.861G>C (p.Val287=) | |
| X | g.137567552G= | CA2460728174 | ZIC3 | c.861G= (p.Val287=) | |
| X | g.137567552G>T | CA518857809 | ZIC3 | c.861G>T (p.Val287=) | dbSNP gnomAD v4 |
| X | g.137567557dup | CA2694828747 | ZIC3 | c.866dup (p.Glu291GlyfsTer?) | gnomAD v4 |
| X | g.137567557del | CA2695237714 | ZIC3 | c.866del (p.Gly289AlafsTer?) | |
| X | g.137567553G>A | CA414770864 | ZIC3 | c.862G>A (p.Gly288Arg) | |
| X | g.137567553G>C | CA414770865 | ZIC3 | c.862G>C (p.Gly288Arg) | |
| X | g.137567553G>T | CA414770866 | ZIC3 | c.862G>T (p.Gly288Trp) | |
| X | g.137567554G>A | CA414770867 | ZIC3 | c.863G>A (p.Gly288Glu) | |
| X | g.137567554G>C | CA414770868 | ZIC3 | c.863G>C (p.Gly288Ala) | |
| X | g.137567554G>T | CA414770869 | ZIC3 | c.863G>T (p.Gly288Val) | |
| X | g.137567555G>A | CA518857811 | ZIC3 | c.864G>A (p.Gly288=) | |
| X | g.137567555G>C | CA518857812 | ZIC3 | c.864G>C (p.Gly288=) | |
| X | g.137567555G>T | CA518857810 | ZIC3 | c.864G>T (p.Gly288=) | |
| X | g.137567556G>A | CA10529328 | ZIC3 | c.865G>A (p.Gly289Ser) | dbSNP ExAC gnomAD v2 |
| X | g.137567556G>C | CA414770870 | ZIC3 | c.865G>C (p.Gly289Arg) | |
| X | g.137567556G= | CA2460728175 | ZIC3 | c.865G= (p.Gly289=) | |
| X | g.137567556G>T | CA414770871 | ZIC3 | c.865G>T (p.Gly289Cys) | |
| X | g.137567557G>A | CA414770874 | ZIC3 | c.866G>A (p.Gly289Asp) | |
| X | g.137567557G>C | CA414770873 | ZIC3 | c.866G>C (p.Gly289Ala) | |
| X | g.137567557G>T | CA414770872 | ZIC3 | c.866G>T (p.Gly289Val) | |
| X | g.137567558C>A | CA518857814 | ZIC3 | c.867C>A (p.Gly289=) | |
| X | g.137567558C= | CA2460728176 | ZIC3 | c.867C= (p.Gly289=) | |
| X | g.137567558C>G | CA518857813 | ZIC3 | c.867C>G (p.Gly289=) | |
| X | g.137567558C>T | CA10529329 | ZIC3 | c.867C>T (p.Gly289=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567560del | CA2695237715 | ZIC3 | c.869del (p.Pro290ArgfsTer?) | |
| X | g.137567559C>A | CA414770876 | ZIC3 | c.868C>A (p.Pro290Thr) | |
| X | g.137567559C>G | CA414770875 | ZIC3 | c.868C>G (p.Pro290Ala) | |
| X | g.137567559C>T | CA414770877 | ZIC3 | c.868C>T (p.Pro290Ser) | |
| X | g.137567560C>A | CA414770878 | ZIC3 | c.869C>A (p.Pro290Gln) | |
| X | g.137567560C= | CA2460728177 | ZIC3 | c.869C= (p.Pro290=) | |
| X | g.137567560C>G | CA414770879 | ZIC3 | c.869C>G (p.Pro290Arg) | |
| X | g.137567560C>T | CA10529330 | ZIC3 | c.869C>T (p.Pro290Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.137567561G>A | CA10529331 | ZIC3 | c.870G>A (p.Pro290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567561G>C | CA518857816 | ZIC3 | c.870G>C (p.Pro290=) | |
| X | g.137567561G= | CA2460728178 | ZIC3 | c.870G= (p.Pro290=) | |
| X | g.137567561G>T | CA518857815 | ZIC3 | c.870G>T (p.Pro290=) | |
| X | g.137567562G>A | CA414770880 | ZIC3 | c.871G>A (p.Glu291Lys) | dbSNP |
| X | g.137567562G>C | CA414770881 | ZIC3 | c.871G>C (p.Glu291Gln) | |
| X | g.137567562G= | CA2460728179 | ZIC3 | c.871G= (p.Glu291=) | |
| X | g.137567562G>T | CA414770882 | ZIC3 | c.871G>T (p.Glu291Ter) | |
| X | g.137567563A>C | CA414770883 | ZIC3 | c.872A>C (p.Glu291Ala) | |
| X | g.137567563A>G | CA414770884 | ZIC3 | c.872A>G (p.Glu291Gly) | |
| X | g.137567563A>T | CA414770885 | ZIC3 | c.872A>T (p.Glu291Val) | |
| X | g.137567564G>A | CA10529332 | ZIC3 | c.873G>A (p.Glu291=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567564G>C | CA414770886 | ZIC3 | c.873G>C (p.Glu291Asp) | |
| X | g.137567564G= | CA2460728180 | ZIC3 | c.873G= (p.Glu291=) | |
| X | g.137567564G>T | CA414770887 | ZIC3 | c.873G>T (p.Glu291Asp) | |
| X | g.137567565C>A | CA414770890 | ZIC3 | c.874C>A (p.Gln292Lys) | |
| X | g.137567565C>G | CA414770889 | ZIC3 | c.874C>G (p.Gln292Glu) | |
| X | g.137567565C>T | CA414770888 | ZIC3 | c.874C>T (p.Gln292Ter) | |
| X | g.137567566A>C | CA414770891 | ZIC3 | c.875A>C (p.Gln292Pro) | |
| X | g.137567566A>G | CA414770892 | ZIC3 | c.875A>G (p.Gln292Arg) | dbSNP gnomAD v4 |
| X | g.137567566A>T | CA414770893 | ZIC3 | c.875A>T (p.Gln292Leu) | |
| X | g.137567567G>A | CA518857817 | ZIC3 | c.876G>A (p.Gln292=) | |
| X | g.137567567G>C | CA414770894 | ZIC3 | c.876G>C (p.Gln292His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567567G= | CA2460728181 | ZIC3 | c.876G= (p.Gln292=) | |
| X | g.137567567G>T | CA414770895 | ZIC3 | c.876G>T (p.Gln292His) | |
| X | g.137567568A>C | CA414770896 | ZIC3 | c.877A>C (p.Asn293His) | |
| X | g.137567568A>G | CA414770897 | ZIC3 | c.877A>G (p.Asn293Asp) | |
| X | g.137567568A>T | CA414770898 | ZIC3 | c.877A>T (p.Asn293Tyr) | |
| X | g.137567569A>C | CA414770899 | ZIC3 | c.878A>C (p.Asn293Thr) | |
| X | g.137567569A>G | CA414770900 | ZIC3 | c.878A>G (p.Asn293Ser) | |
| X | g.137567569A>T | CA414770901 | ZIC3 | c.878A>T (p.Asn293Ile) | |
| X | g.137567570C>A | CA414770902 | ZIC3 | c.879C>A (p.Asn293Lys) | |
| X | g.137567570C= | CA2460728182 | ZIC3 | c.879C= (p.Asn293=) | |
| X | g.137567570C>G | CA414770903 | ZIC3 | c.879C>G (p.Asn293Lys) | |
| X | g.137567570C>T | CA518857818 | ZIC3 | c.879C>T (p.Asn293=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.137567571A= | CA2460728183 | ZIC3 | c.880A= (p.Asn294=) | |
| X | g.137567571A>C | CA414770905 | ZIC3 | c.880A>C (p.Asn294His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567571A>G | CA414770906 | ZIC3 | c.880A>G (p.Asn294Asp) | |
| X | g.137567571A>T | CA414770904 | ZIC3 | c.880A>T (p.Asn294Tyr) | |
| X | g.137567572A= | CA2460728184 | ZIC3 | c.881A= (p.Asn294=) | |
| X | g.137567572A>C | CA10529333 | ZIC3 | c.881A>C (p.Asn294Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.137567572A>G | CA414770907 | ZIC3 | c.881A>G (p.Asn294Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.137567572A>T | CA414770908 | ZIC3 | c.881A>T (p.Asn294Ile) | |
| X | g.137567573C>A | CA414770909 | ZIC3 | c.882C>A (p.Asn294Lys) | |
| X | g.137567573C= | CA2460728185 | ZIC3 | c.882C= (p.Asn294=) | |
| X | g.137567573C>G | CA414770910 | ZIC3 | c.882C>G (p.Asn294Lys) | ClinVar dbSNP |
| X | g.137567573C>T | CA518857819 | ZIC3 | c.882C>T (p.Asn294=) | |
| X | g.137567574C>A | CA414770911 | ZIC3 | c.883C>A (p.His295Asn) | |
| X | g.137567574C>G | CA414770912 | ZIC3 | c.883C>G (p.His295Asp) | |
| X | g.137567574C>T | CA414770913 | ZIC3 | c.883C>T (p.His295Tyr) | |
| X | g.137567575A>C | CA414770914 | ZIC3 | c.884A>C (p.His295Pro) | |
| X | g.137567575A>G | CA414770915 | ZIC3 | c.884A>G (p.His295Arg) | gnomAD v4 |
| X | g.137567575A>T | CA414770916 | ZIC3 | c.884A>T (p.His295Leu) | |
| X | g.137567576C>A | CA414770918 | ZIC3 | c.885C>A (p.His295Gln) | |
| X | g.137567576C= | CA2460728186 | ZIC3 | c.885C= (p.His295=) | |
| X | g.137567576C>G | CA414770917 | ZIC3 | c.885C>G (p.His295Gln) | |
| X | g.137567576C>T | CA10529334 | ZIC3 | c.885C>T (p.His295=) | dbSNP ExAC gnomAD v2 |
| X | g.137567577G>A | CA414770919 | ZIC3 | c.886G>A (p.Val296Ile) | |
| X | g.137567577G>C | CA414770920 | ZIC3 | c.886G>C (p.Val296Leu) | gnomAD v4 |
| X | g.137567577G>T | CA414770921 | ZIC3 | c.886G>T (p.Val296Phe) | |
| X | g.137567578T>A | CA414770922 | ZIC3 | c.887T>A (p.Val296Asp) | |
| X | g.137567578T>C | CA414770923 | ZIC3 | c.887T>C (p.Val296Ala) | |
| X | g.137567578T>G | CA414770924 | ZIC3 | c.887T>G (p.Val296Gly) | |
| X | g.137567579C>A | CA518857820 | ZIC3 | c.888C>A (p.Val296=) | |
| X | g.137567579C>G | CA518857821 | ZIC3 | c.888C>G (p.Val296=) | |
| X | g.137567579C>T | CA518857822 | ZIC3 | c.888C>T (p.Val296=) | COSMIC COSMIC |
| X | g.137567580T>A | CA414770925 | ZIC3 | c.889T>A (p.Cys297Ser) | |
| X | g.137567580T>C | CA414770926 | ZIC3 | c.889T>C (p.Cys297Arg) | |
| X | g.137567580T>G | CA414770927 | ZIC3 | c.889T>G (p.Cys297Gly) | |
| X | g.137567581G>A | CA414770928 | ZIC3 | c.890G>A (p.Cys297Tyr) | |
| X | g.137567581G>C | CA414770929 | ZIC3 | c.890G>C (p.Cys297Ser) | |
| X | g.137567581G>T | CA414770930 | ZIC3 | c.890G>T (p.Cys297Phe) | |
| X | g.137567582C>A | CA414770932 | ZIC3 | c.891C>A (p.Cys297Ter) | |
| X | g.137567582C>G | CA414770931 | ZIC3 | c.891C>G (p.Cys297Trp) | |
| X | g.137567582C>T | CA518857823 | ZIC3 | c.891C>T (p.Cys297=) | |
| X | g.137567583T>A | CA414770933 | ZIC3 | c.892T>A (p.Tyr298Asn) | |
| X | g.137567583T>C | CA414770935 | ZIC3 | c.892T>C (p.Tyr298His) | |
| X | g.137567583T>G | CA414770934 | ZIC3 | c.892T>G (p.Tyr298Asp) | |
| X | g.137567584A= | CA2460728187 | ZIC3 | c.893A= (p.Tyr298=) | |
| X | g.137567584A>C | CA414770936 | ZIC3 | c.893A>C (p.Tyr298Ser) | |
| X | g.137567584A>G | CA414770937 | ZIC3 | c.893A>G (p.Tyr298Cys) | dbSNP |
| X | g.137567584A>T | CA414770938 | ZIC3 | c.893A>T (p.Tyr298Phe) | |
| X | g.137567585C>A | CA414770939 | ZIC3 | c.894C>A (p.Tyr298Ter) | |
| X | g.137567585C>G | CA414770940 | ZIC3 | c.894C>G (p.Tyr298Ter) | |
| X | g.137567585C>T | CA518857824 | ZIC3 | c.894C>T (p.Tyr298=) | gnomAD v4 |
| X | g.137567586T>A | CA414770941 | ZIC3 | c.895T>A (p.Trp299Arg) | |
| X | g.137567586T>C | CA414770942 | ZIC3 | c.895T>C (p.Trp299Arg) | |
| X | g.137567586T>G | CA414770943 | ZIC3 | c.895T>G (p.Trp299Gly) | |
| X | g.137567587G>A | CA414770944 | ZIC3 | c.896G>A (p.Trp299Ter) | |
| X | g.137567587G>C | CA414770945 | ZIC3 | c.896G>C (p.Trp299Ser) | |
| X | g.137567587G>T | CA414770946 | ZIC3 | c.896G>T (p.Trp299Leu) | |
| X | g.137567588G>A | CA414770949 | ZIC3 | c.897G>A (p.Trp299Ter) | |
| X | g.137567588G>C | CA414770947 | ZIC3 | c.897G>C (p.Trp299Cys) | |
| X | g.137567588G>T | CA414770948 | ZIC3 | c.897G>T (p.Trp299Cys) | COSMIC COSMIC |
| X | g.137567589G>A | CA414770950 | ZIC3 | c.898G>A (p.Glu300Lys) | dbSNP |
| X | g.137567589G>C | CA414770951 | ZIC3 | c.898G>C (p.Glu300Gln) | |
| X | g.137567589G= | CA2460728188 | ZIC3 | c.898G= (p.Glu300=) | |
| X | g.137567589G>T | CA414770952 | ZIC3 | c.898G>T (p.Glu300Ter) | |
| X | g.137567590A>C | CA414770953 | ZIC3 | c.899A>C (p.Glu300Ala) | |
| X | g.137567590A>G | CA414770954 | ZIC3 | c.899A>G (p.Glu300Gly) | |
| X | g.137567590A>T | CA414770955 | ZIC3 | c.899A>T (p.Glu300Val) | |
| X | g.137567591G>A | CA518857825 | ZIC3 | c.900G>A (p.Glu300=) | ClinVar |
| X | g.137567591G>C | CA414770956 | ZIC3 | c.900G>C (p.Glu300Asp) | gnomAD v4 |
| X | g.137567591G>T | CA414770957 | ZIC3 | c.900G>T (p.Glu300Asp) | COSMIC COSMIC |
| X | g.137567592G>A | CA414770958 | ZIC3 | c.901G>A (p.Glu301Lys) | dbSNP |
| X | g.137567592G>C | CA414770959 | ZIC3 | c.901G>C (p.Glu301Gln) | |
| X | g.137567592G= | CA2460728189 | ZIC3 | c.901G= (p.Glu301=) | |
| X | g.137567592G>T | CA414770960 | ZIC3 | c.901G>T (p.Glu301Ter) | |
| X | g.137567593A>C | CA414770962 | ZIC3 | c.902A>C (p.Glu301Ala) | |
| X | g.137567593A>G | CA414770963 | ZIC3 | c.902A>G (p.Glu301Gly) | |
| X | g.137567593A>T | CA414770961 | ZIC3 | c.902A>T (p.Glu301Val) | |
| X | g.137567594G>A | CA518857826 | ZIC3 | c.903G>A (p.Glu301=) | gnomAD v4 |
| X | g.137567594G>C | CA414770964 | ZIC3 | c.903G>C (p.Glu301Asp) | |
| X | g.137567594G>T | CA414770965 | ZIC3 | c.903G>T (p.Glu301Asp) | |
| X | g.137567595T>A | CA414770966 | ZIC3 | c.904T>A (p.Cys302Ser) | |
| X | g.137567595T>C | CA414770967 | ZIC3 | c.904T>C (p.Cys302Arg) | |
| X | g.137567595T>G | CA414770968 | ZIC3 | c.904T>G (p.Cys302Gly) |