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) |