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.134413847A>C | CA414712815 | PHF6 | c.*529A>C (n.*529A>C) c.508A>C (p.Ser170Arg) c.610A>C (p.Ser204Arg) c.*222A>C (n.*222A>C) c.613A>C (p.Ser205Arg) | |
| X | g.134413847A>G | CA414712816 | PHF6 | c.*529A>G (n.*529A>G) c.508A>G (p.Ser170Gly) c.610A>G (p.Ser204Gly) c.*222A>G (n.*222A>G) c.613A>G (p.Ser205Gly) | |
| X | g.134413847A>T | CA414712817 | PHF6 | c.*529A>T (n.*529A>T) c.508A>T (p.Ser170Cys) c.610A>T (p.Ser204Cys) c.*222A>T (n.*222A>T) c.613A>T (p.Ser205Cys) | |
| X | g.134413848G>A | CA414712818 | PHF6 | c.*530G>A (n.*530G>A) c.509G>A (p.Ser170Asn) c.611G>A (p.Ser204Asn) c.*223G>A (n.*223G>A) c.614G>A (p.Ser205Asn) | |
| X | g.134413848G>C | CA414712819 | PHF6 | c.*530G>C (n.*530G>C) c.509G>C (p.Ser170Thr) c.611G>C (p.Ser204Thr) c.*223G>C (n.*223G>C) c.614G>C (p.Ser205Thr) | |
| X | g.134413848G>T | CA414712820 | PHF6 | c.*530G>T (n.*530G>T) c.509G>T (p.Ser170Ile) c.611G>T (p.Ser204Ile) c.*223G>T (n.*223G>T) c.614G>T (p.Ser205Ile) | |
| X | g.134413849C>A | CA414712821 | PHF6 | c.*531C>A (n.*531C>A) c.510C>A (p.Ser170Arg) c.612C>A (p.Ser204Arg) c.*224C>A (n.*224C>A) c.615C>A (p.Ser205Arg) | |
| X | g.134413849C>G | CA414712822 | PHF6 | c.*531C>G (n.*531C>G) c.510C>G (p.Ser170Arg) c.612C>G (p.Ser204Arg) c.*224C>G (n.*224C>G) c.615C>G (p.Ser205Arg) | |
| X | g.134413849C>T | CA518651050 | PHF6 | c.*531C>T (n.*531C>T) c.510C>T (p.Ser170=) c.612C>T (p.Ser204=) c.*224C>T (n.*224C>T) c.615C>T (p.Ser205=) | |
| X | g.134413850C>A | CA414712824 | PHF6 | c.*532C>A (n.*532C>A) c.511C>A (p.Pro171Thr) c.613C>A (p.Pro205Thr) c.*225C>A (n.*225C>A) c.616C>A (p.Pro206Thr) | |
| X | g.134413850C>G | CA414712825 | PHF6 | c.*532C>G (n.*532C>G) c.511C>G (p.Pro171Ala) c.613C>G (p.Pro205Ala) c.*225C>G (n.*225C>G) c.616C>G (p.Pro206Ala) | |
| X | g.134413850C>T | CA414712823 | PHF6 | c.*532C>T (n.*532C>T) c.511C>T (p.Pro171Ser) c.613C>T (p.Pro205Ser) c.*225C>T (n.*225C>T) c.616C>T (p.Pro206Ser) | |
| X | g.134413851C>A | CA414712826 | PHF6 | c.*533C>A (n.*533C>A) c.512C>A (p.Pro171His) c.614C>A (p.Pro205His) c.*226C>A (n.*226C>A) c.617C>A (p.Pro206His) | |
| X | g.134413851C>G | CA414712827 | PHF6 | c.*533C>G (n.*533C>G) c.512C>G (p.Pro171Arg) c.614C>G (p.Pro205Arg) c.*226C>G (n.*226C>G) c.617C>G (p.Pro206Arg) | |
| X | g.134413851C>T | CA414712828 | PHF6 | c.*533C>T (n.*533C>T) c.512C>T (p.Pro171Leu) c.614C>T (p.Pro205Leu) c.*226C>T (n.*226C>T) c.617C>T (p.Pro206Leu) | |
| X | g.134413852T>A | CA518651056 | PHF6 | c.*534T>A (n.*534T>A) c.513T>A (p.Pro171=) c.615T>A (p.Pro205=) c.*227T>A (n.*227T>A) c.618T>A (p.Pro206=) | |
| X | g.134413852T>C | CA518651058 | PHF6 | c.*534T>C (n.*534T>C) c.513T>C (p.Pro171=) c.615T>C (p.Pro205=) c.*227T>C (n.*227T>C) c.618T>C (p.Pro206=) | |
| X | g.134413852T>G | CA518651059 | PHF6 | c.*534T>G (n.*534T>G) c.513T>G (p.Pro171=) c.615T>G (p.Pro205=) c.*227T>G (n.*227T>G) c.618T>G (p.Pro206=) | |
| X | g.134413853A>C | CA414712829 | PHF6 | c.*535A>C (n.*535A>C) c.514A>C (p.Ser172Arg) c.616A>C (p.Ser206Arg) c.*228A>C (n.*228A>C) c.619A>C (p.Ser207Arg) | |
| X | g.134413853A>G | CA414712830 | PHF6 | c.*535A>G (n.*535A>G) c.514A>G (p.Ser172Gly) c.616A>G (p.Ser206Gly) c.*228A>G (n.*228A>G) c.619A>G (p.Ser207Gly) | gnomAD v4 |
| X | g.134413853A>T | CA414712831 | PHF6 | c.*535A>T (n.*535A>T) c.514A>T (p.Ser172Cys) c.616A>T (p.Ser206Cys) c.*228A>T (n.*228A>T) c.619A>T (p.Ser207Cys) | |
| X | g.134413854G>A | CA414712832 | PHF6 | c.*536G>A (n.*536G>A) c.515G>A (p.Ser172Asn) c.617G>A (p.Ser206Asn) c.*229G>A (n.*229G>A) c.620G>A (p.Ser207Asn) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.134413854G>C | CA414712834 | PHF6 | c.*536G>C (n.*536G>C) c.515G>C (p.Ser172Thr) c.617G>C (p.Ser206Thr) c.*229G>C (n.*229G>C) c.620G>C (p.Ser207Thr) | |
| X | g.134413854G= | CA2459717451 | PHF6 | c.*536G= (n.*536G=) c.515G= (p.Ser172=) c.617G= (p.Ser206=) c.*229G= (n.*229G=) c.620G= (p.Ser207=) | |
| X | g.134413854G>T | CA414712833 | PHF6 | c.*536G>T (n.*536G>T) c.515G>T (p.Ser172Ile) c.617G>T (p.Ser206Ile) c.*229G>T (n.*229G>T) c.620G>T (p.Ser207Ile) | |
| X | g.134413855T>A | CA414712835 | PHF6 | c.*537T>A (n.*537T>A) c.516T>A (p.Ser172Arg) c.618T>A (p.Ser206Arg) c.*230T>A (n.*230T>A) c.621T>A (p.Ser207Arg) | |
| X | g.134413855T>C | CA518651066 | PHF6 | c.*537T>C (n.*537T>C) c.516T>C (p.Ser172=) c.618T>C (p.Ser206=) c.*230T>C (n.*230T>C) c.621T>C (p.Ser207=) | |
| X | g.134413855T>G | CA414712836 | PHF6 | c.*537T>G (n.*537T>G) c.516T>G (p.Ser172Arg) c.618T>G (p.Ser206Arg) c.*230T>G (n.*230T>G) c.621T>G (p.Ser207Arg) | |
| X | g.134413856G>A | CA414712837 | PHF6 | c.*538G>A (n.*538G>A) c.517G>A (p.Asp173Asn) c.619G>A (p.Asp207Asn) c.*231G>A (n.*231G>A) c.622G>A (p.Asp208Asn) | gnomAD v4 |
| X | g.134413856G>C | CA414712838 | PHF6 | c.*538G>C (n.*538G>C) c.517G>C (p.Asp173His) c.619G>C (p.Asp207His) c.*231G>C (n.*231G>C) c.622G>C (p.Asp208His) | |
| X | g.134413856G>T | CA414712839 | PHF6 | c.*538G>T (n.*538G>T) c.517G>T (p.Asp173Tyr) c.619G>T (p.Asp207Tyr) c.*231G>T (n.*231G>T) c.622G>T (p.Asp208Tyr) | COSMIC COSMIC COSMIC |
| X | g.134413857A>C | CA414712841 | PHF6 | c.*539A>C (n.*539A>C) c.518A>C (p.Asp173Ala) c.620A>C (p.Asp207Ala) c.*232A>C (n.*232A>C) c.623A>C (p.Asp208Ala) | |
| X | g.134413857A>G | CA414712842 | PHF6 | c.*539A>G (n.*539A>G) c.518A>G (p.Asp173Gly) c.620A>G (p.Asp207Gly) c.*232A>G (n.*232A>G) c.623A>G (p.Asp208Gly) | |
| X | g.134413857A>T | CA414712840 | PHF6 | c.*539A>T (n.*539A>T) c.518A>T (p.Asp173Val) c.620A>T (p.Asp207Val) c.*232A>T (n.*232A>T) c.623A>T (p.Asp208Val) | |
| X | g.134413858C>A | CA414712843 | PHF6 | c.*540C>A (n.*540C>A) c.519C>A (p.Asp173Glu) c.621C>A (p.Asp207Glu) c.*233C>A (n.*233C>A) c.624C>A (p.Asp208Glu) | |
| X | g.134413858C= | CA2459717452 | PHF6 | c.*540C= (n.*540C=) c.519C= (p.Asp173=) c.621C= (p.Asp207=) c.*233C= (n.*233C=) c.624C= (p.Asp208=) | |
| X | g.134413858C>G | CA414712844 | PHF6 | c.*540C>G (n.*540C>G) c.519C>G (p.Asp173Glu) c.621C>G (p.Asp207Glu) c.*233C>G (n.*233C>G) c.624C>G (p.Asp208Glu) | |
| X | g.134413858C>T | CA518651072 | PHF6 | c.*540C>T (n.*540C>T) c.519C>T (p.Asp173=) c.621C>T (p.Asp207=) c.*233C>T (n.*233C>T) c.624C>T (p.Asp208=) | dbSNP |
| X | g.134413859A>C | CA414712845 | PHF6 | c.*541A>C (n.*541A>C) c.520A>C (p.Thr174Pro) c.622A>C (p.Thr208Pro) c.*234A>C (n.*234A>C) c.625A>C (p.Thr209Pro) | |
| X | g.134413859A>G | CA414712846 | PHF6 | c.*541A>G (n.*541A>G) c.520A>G (p.Thr174Ala) c.622A>G (p.Thr208Ala) c.*234A>G (n.*234A>G) c.625A>G (p.Thr209Ala) | |
| X | g.134413859A>T | CA414712847 | PHF6 | c.*541A>T (n.*541A>T) c.520A>T (p.Thr174Ser) c.622A>T (p.Thr208Ser) c.*234A>T (n.*234A>T) c.625A>T (p.Thr209Ser) | |
| X | g.134413860C>A | CA414712848 | PHF6 | c.*542C>A (n.*542C>A) c.521C>A (p.Thr174Asn) c.623C>A (p.Thr208Asn) c.*235C>A (n.*235C>A) c.626C>A (p.Thr209Asn) | |
| X | g.134413860C= | CA2459717453 | PHF6 | c.*542C= (n.*542C=) c.521C= (p.Thr174=) c.623C= (p.Thr208=) c.*235C= (n.*235C=) c.626C= (p.Thr209=) | |
| X | g.134413860C>G | CA414712849 | PHF6 | c.*542C>G (n.*542C>G) c.521C>G (p.Thr174Ser) c.623C>G (p.Thr208Ser) c.*235C>G (n.*235C>G) c.626C>G (p.Thr209Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.134413860C>T | CA414712850 | PHF6 | c.*542C>T (n.*542C>T) c.521C>T (p.Thr174Ile) c.623C>T (p.Thr208Ile) c.*235C>T (n.*235C>T) c.626C>T (p.Thr209Ile) | ClinVar gnomAD v4 |
| X | g.134413861C>A | CA518651077 | PHF6 | c.*543C>A (n.*543C>A) c.522C>A (p.Thr174=) c.624C>A (p.Thr208=) c.*236C>A (n.*236C>A) c.627C>A (p.Thr209=) | |
| X | g.134413861C= | CA2459717454 | PHF6 | c.*543C= (n.*543C=) c.522C= (p.Thr174=) c.624C= (p.Thr208=) c.*236C= (n.*236C=) c.627C= (p.Thr209=) | |
| X | g.134413861C>G | CA518651079 | PHF6 | c.*543C>G (n.*543C>G) c.522C>G (p.Thr174=) c.624C>G (p.Thr208=) c.*236C>G (n.*236C>G) c.627C>G (p.Thr209=) | |
| X | g.134413861C>T | CA518651081 | PHF6 | c.*543C>T (n.*543C>T) c.522C>T (p.Thr174=) c.624C>T (p.Thr208=) c.*236C>T (n.*236C>T) c.627C>T (p.Thr209=) | ClinVar dbSNP gnomAD v4 |
| X | g.134413862A>C | CA518651082 | PHF6 | c.*544A>C (n.*544A>C) c.523A>C (p.Arg175=) c.625A>C (p.Arg209=) c.*237A>C (n.*237A>C) c.628A>C (p.Arg210=) | |
| X | g.134413862A>G | CA414712851 | PHF6 | c.*544A>G (n.*544A>G) c.523A>G (p.Arg175Gly) c.625A>G (p.Arg209Gly) c.*237A>G (n.*237A>G) c.628A>G (p.Arg210Gly) | |
| X | g.134413862A>T | CA414712852 | PHF6 | c.*544A>T (n.*544A>T) c.523A>T (p.Arg175Trp) c.625A>T (p.Arg209Trp) c.*237A>T (n.*237A>T) c.628A>T (p.Arg210Trp) | |
| X | g.134413863G>A | CA414712853 | PHF6 | c.*545G>A (n.*545G>A) c.524G>A (p.Arg175Lys) c.626G>A (p.Arg209Lys) c.*238G>A (n.*238G>A) c.629G>A (p.Arg210Lys) | |
| X | g.134413863G>C | CA414712854 | PHF6 | c.*545G>C (n.*545G>C) c.524G>C (p.Arg175Thr) c.626G>C (p.Arg209Thr) c.*238G>C (n.*238G>C) c.629G>C (p.Arg210Thr) | |
| X | g.134413863G>T | CA414712855 | PHF6 | c.*545G>T (n.*545G>T) c.524G>T (p.Arg175Met) c.626G>T (p.Arg209Met) c.*238G>T (n.*238G>T) c.629G>T (p.Arg210Met) | |
| X | g.134413864G>A | CA518651087 | PHF6 | c.*546G>A (n.*546G>A) c.525G>A (p.Arg175=) c.627G>A (p.Arg209=) c.*239G>A (n.*239G>A) c.630G>A (p.Arg210=) | |
| X | g.134413864G>C | CA414712856 | PHF6 | c.*546G>C (n.*546G>C) c.525G>C (p.Arg175Ser) c.627G>C (p.Arg209Ser) c.*239G>C (n.*239G>C) c.630G>C (p.Arg210Ser) | |
| X | g.134413864G>T | CA414712857 | PHF6 | c.*546G>T (n.*546G>T) c.525G>T (p.Arg175Ser) c.627G>T (p.Arg209Ser) c.*239G>T (n.*239G>T) c.630G>T (p.Arg210Ser) | dbSNP |
| X | g.134413865C>A | CA414712860 | PHF6 | c.*547C>A (n.*547C>A) c.526C>A (p.Pro176Thr) c.628C>A (p.Pro210Thr) c.*240C>A (n.*240C>A) c.631C>A (p.Pro211Thr) | dbSNP |
| X | g.134413865C>G | CA414712858 | PHF6 | c.*547C>G (n.*547C>G) c.526C>G (p.Pro176Ala) c.628C>G (p.Pro210Ala) c.*240C>G (n.*240C>G) c.631C>G (p.Pro211Ala) | |
| X | g.134413865C>T | CA414712859 | PHF6 | c.*547C>T (n.*547C>T) c.526C>T (p.Pro176Ser) c.628C>T (p.Pro210Ser) c.*240C>T (n.*240C>T) c.631C>T (p.Pro211Ser) | |
| X | g.134413866C>A | CA414712861 | PHF6 | c.*548C>A (n.*548C>A) c.527C>A (p.Pro176His) c.629C>A (p.Pro210His) c.*241C>A (n.*241C>A) c.632C>A (p.Pro211His) | |
| X | g.134413866C= | CA2459717455 | PHF6 | c.*548C= (n.*548C=) c.527C= (p.Pro176=) c.629C= (p.Pro210=) c.*241C= (n.*241C=) c.632C= (p.Pro211=) | |
| X | g.134413866C>G | CA414712862 | PHF6 | c.*548C>G (n.*548C>G) c.527C>G (p.Pro176Arg) c.629C>G (p.Pro210Arg) c.*241C>G (n.*241C>G) c.632C>G (p.Pro211Arg) | |
| X | g.134413866C>T | CA414712863 | PHF6 | c.*548C>T (n.*548C>T) c.527C>T (p.Pro176Leu) c.629C>T (p.Pro210Leu) c.*241C>T (n.*241C>T) c.632C>T (p.Pro211Leu) | dbSNP |
| X | g.134413867T>A | CA518651093 | PHF6 | c.*549T>A (n.*549T>A) c.528T>A (p.Pro176=) c.630T>A (p.Pro210=) c.*242T>A (n.*242T>A) c.633T>A (p.Pro211=) | |
| X | g.134413867T>C | CA518651096 | PHF6 | c.*549T>C (n.*549T>C) c.528T>C (p.Pro176=) c.630T>C (p.Pro210=) c.*242T>C (n.*242T>C) c.633T>C (p.Pro211=) | |
| X | g.134413867T>G | CA518651095 | PHF6 | c.*549T>G (n.*549T>G) c.528T>G (p.Pro176=) c.630T>G (p.Pro210=) c.*242T>G (n.*242T>G) c.633T>G (p.Pro211=) | |
| X | g.134413868A>C | CA414712864 | PHF6 | c.*550A>C (n.*550A>C) c.529A>C (p.Lys177Gln) c.631A>C (p.Lys211Gln) c.*243A>C (n.*243A>C) c.634A>C (p.Lys212Gln) | |
| X | g.134413868A>G | CA414712865 | PHF6 | c.*550A>G (n.*550A>G) c.529A>G (p.Lys177Glu) c.631A>G (p.Lys211Glu) c.*243A>G (n.*243A>G) c.634A>G (p.Lys212Glu) | COSMIC |
| X | g.134413868A>T | CA414712866 | PHF6 | c.*550A>T (n.*550A>T) c.529A>T (p.Lys177Ter) c.631A>T (p.Lys211Ter) c.*243A>T (n.*243A>T) c.634A>T (p.Lys212Ter) | COSMIC |
| X | g.134413869A= | CA2459717456 | PHF6 | c.*551A= (n.*551A=) c.530A= (p.Lys177=) c.632A= (p.Lys211=) c.*244A= (n.*244A=) c.635A= (p.Lys212=) | |
| X | g.134413869A>C | CA414712867 | PHF6 | c.*551A>C (n.*551A>C) c.530A>C (p.Lys177Thr) c.632A>C (p.Lys211Thr) c.*244A>C (n.*244A>C) c.635A>C (p.Lys212Thr) | gnomAD v4 |
| X | g.134413869A>G | CA10521245 | PHF6 | c.*551A>G (n.*551A>G) c.530A>G (p.Lys177Arg) c.632A>G (p.Lys211Arg) c.*244A>G (n.*244A>G) c.635A>G (p.Lys212Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.134413869A>T | CA414712868 | PHF6 | c.*551A>T (n.*551A>T) c.530A>T (p.Lys177Ile) c.632A>T (p.Lys211Ile) c.*244A>T (n.*244A>T) c.635A>T (p.Lys212Ile) | |
| X | g.134413870A= | CA2459717457 | PHF6 | c.*552A= (n.*552A=) c.531A= (p.Lys177=) c.633A= (p.Lys211=) c.*245A= (n.*245A=) c.636A= (p.Lys212=) | |
| X | g.134413870A>C | CA414712869 | PHF6 | c.*552A>C (n.*552A>C) c.531A>C (p.Lys177Asn) c.633A>C (p.Lys211Asn) c.*245A>C (n.*245A>C) c.636A>C (p.Lys212Asn) | |
| X | g.134413870A>G | CA518651109 | PHF6 | c.*552A>G (n.*552A>G) c.531A>G (p.Lys177=) c.633A>G (p.Lys211=) c.*245A>G (n.*245A>G) c.636A>G (p.Lys212=) | dbSNP |
| X | g.134413870A>T | CA336029335 | PHF6 | c.*552A>T (n.*552A>T) c.531A>T (p.Lys177Asn) c.633A>T (p.Lys211Asn) c.*245A>T (n.*245A>T) c.636A>T (p.Lys212Asn) | dbSNP |
| X | g.134413871T>A | CA414712872 | PHF6 | c.*553T>A (n.*553T>A) c.532T>A (p.Cys178Ser) c.634T>A (p.Cys212Ser) c.*246T>A (n.*246T>A) c.637T>A (p.Cys213Ser) | |
| X | g.134413871T>C | CA414712871 | PHF6 | c.*553T>C (n.*553T>C) c.532T>C (p.Cys178Arg) c.634T>C (p.Cys212Arg) c.*246T>C (n.*246T>C) c.637T>C (p.Cys213Arg) | |
| X | g.134413871T>G | CA414712870 | PHF6 | c.*553T>G (n.*553T>G) c.532T>G (p.Cys178Gly) c.634T>G (p.Cys212Gly) c.*246T>G (n.*246T>G) c.637T>G (p.Cys213Gly) | |
| X | g.134413873_134413874del | CA645602524 | PHF6 | c.*555_*556del (n.*555_*556del) c.534_535del (p.Cys178TrpfsTer11) c.636_637del (p.Cys212TrpfsTer11) c.*248_*249del (n.*248_*249del) c.639_640del (p.Cys213TrpfsTer11) | COSMIC |
| X | g.134413872G>A | CA414712873 | PHF6 | c.*554G>A (n.*554G>A) c.533G>A (p.Cys178Tyr) c.635G>A (p.Cys212Tyr) c.*247G>A (n.*247G>A) c.638G>A (p.Cys213Tyr) | |
| X | g.134413872G>C | CA414712874 | PHF6 | c.*554G>C (n.*554G>C) c.533G>C (p.Cys178Ser) c.635G>C (p.Cys212Ser) c.*247G>C (n.*247G>C) c.638G>C (p.Cys213Ser) | |
| X | g.134413872G>T | CA414712875 | PHF6 | c.*554G>T (n.*554G>T) c.533G>T (p.Cys178Phe) c.635G>T (p.Cys212Phe) c.*247G>T (n.*247G>T) c.638G>T (p.Cys213Phe) | |
| X | g.134413873T>A | CA414712876 | PHF6 | c.*555T>A (n.*555T>A) c.534T>A (p.Cys178Ter) c.636T>A (p.Cys212Ter) c.*248T>A (n.*248T>A) c.639T>A (p.Cys213Ter) | |
| X | g.134413873T>C | CA518651116 | PHF6 | c.*555T>C (n.*555T>C) c.534T>C (p.Cys178=) c.636T>C (p.Cys212=) c.*248T>C (n.*248T>C) c.639T>C (p.Cys213=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.134413873T>G | CA414712877 | PHF6 | c.*555T>G (n.*555T>G) c.534T>G (p.Cys178Trp) c.636T>G (p.Cys212Trp) c.*248T>G (n.*248T>G) c.639T>G (p.Cys213Trp) | |
| X | g.134413873T= | CA2459717458 | PHF6 | c.*555T= (n.*555T=) c.534T= (p.Cys178=) c.636T= (p.Cys212=) c.*248T= (n.*248T=) c.639T= (p.Cys213=) | |
| X | g.134413874G>A | CA414712880 | PHF6 | c.*556G>A (n.*556G>A) c.535G>A (p.Gly179Arg) c.637G>A (p.Gly213Arg) c.*249G>A (n.*249G>A) c.640G>A (p.Gly214Arg) | COSMIC |
| X | g.134413874G>C | CA414712879 | PHF6 | c.*556G>C (n.*556G>C) c.535G>C (p.Gly179Arg) c.637G>C (p.Gly213Arg) c.*249G>C (n.*249G>C) c.640G>C (p.Gly214Arg) | |
| X | g.134413874G>T | CA414712878 | PHF6 | c.*556G>T (n.*556G>T) c.535G>T (p.Gly179Ter) c.637G>T (p.Gly213Ter) c.*249G>T (n.*249G>T) c.640G>T (p.Gly214Ter) | |
| X | g.134413877_134413878insAGGAT | CA645602525 | PHF6 | c.*559_*560insAGGAT (n.*559_*560insAGGAT) c.538_539insAGGAT (p.Phe180Ter) c.640_641insAGGAT (p.Phe214Ter) c.*252_*253insAGGAT (n.*252_*253insAGGAT) c.643_644insAGGAT (p.Phe215Ter) | COSMIC COSMIC |
| X | g.134413875G>A | CA414712881 | PHF6 | c.*557G>A (n.*557G>A) c.536G>A (p.Gly179Glu) c.638G>A (p.Gly213Glu) c.*250G>A (n.*250G>A) c.641G>A (p.Gly214Glu) | |
| X | g.134413875G>C | CA414712882 | PHF6 | c.*557G>C (n.*557G>C) c.536G>C (p.Gly179Ala) c.638G>C (p.Gly213Ala) c.*250G>C (n.*250G>C) c.641G>C (p.Gly214Ala) | |
| X | g.134413875G>T | CA414712883 | PHF6 | c.*557G>T (n.*557G>T) c.536G>T (p.Gly179Val) c.638G>T (p.Gly213Val) c.*250G>T (n.*250G>T) c.641G>T (p.Gly214Val) | COSMIC COSMIC COSMIC |
| X | g.134413876A>C | CA518651126 | PHF6 | c.*558A>C (n.*558A>C) c.537A>C (p.Gly179=) c.639A>C (p.Gly213=) c.*251A>C (n.*251A>C) c.642A>C (p.Gly214=) | |
| X | g.134413876A>G | CA518651124 | PHF6 | c.*558A>G (n.*558A>G) c.537A>G (p.Gly179=) c.639A>G (p.Gly213=) c.*251A>G (n.*251A>G) c.642A>G (p.Gly214=) | |
| X | g.134413876A>T | CA518651123 | PHF6 | c.*558A>T (n.*558A>T) c.537A>T (p.Gly179=) c.639A>T (p.Gly213=) c.*251A>T (n.*251A>T) c.642A>T (p.Gly214=) | |
| X | g.134413876_134413877insCC | CA645602526 | PHF6 | c.*558_*559insCC (n.*558_*559insCC) c.537_538insCC (p.Phe180ProfsTer5) c.639_640insCC (p.Phe214ProfsTer5) c.*251_*252insCC (n.*251_*252insCC) c.642_643insCC (p.Phe215ProfsTer5) | COSMIC COSMIC COSMIC |
| X | g.134413877T>A | CA414712884 | PHF6 | c.*559T>A (n.*559T>A) c.538T>A (p.Phe180Ile) c.640T>A (p.Phe214Ile) c.*252T>A (n.*252T>A) c.643T>A (p.Phe215Ile) | |
| X | g.134413877T>C | CA414712885 | PHF6 | c.*559T>C (n.*559T>C) c.538T>C (p.Phe180Leu) c.640T>C (p.Phe214Leu) c.*252T>C (n.*252T>C) c.643T>C (p.Phe215Leu) | |
| X | g.134413877T>G | CA414712886 | PHF6 | c.*559T>G (n.*559T>G) c.538T>G (p.Phe180Val) c.640T>G (p.Phe214Val) c.*252T>G (n.*252T>G) c.643T>G (p.Phe215Val) | |
| X | g.134413878T>A | CA414712887 | PHF6 | c.*560T>A (n.*560T>A) c.539T>A (p.Phe180Tyr) c.641T>A (p.Phe214Tyr) c.*253T>A (n.*253T>A) c.644T>A (p.Phe215Tyr) | |
| X | g.134413878T>C | CA414712889 | PHF6 | c.*560T>C (n.*560T>C) c.539T>C (p.Phe180Ser) c.641T>C (p.Phe214Ser) c.*253T>C (n.*253T>C) c.644T>C (p.Phe215Ser) | |
| X | g.134413878T>G | CA414712888 | PHF6 | c.*560T>G (n.*560T>G) c.539T>G (p.Phe180Cys) c.641T>G (p.Phe214Cys) c.*253T>G (n.*253T>G) c.644T>G (p.Phe215Cys) | |
| X | g.134413879T>A | CA414712890 | PHF6 | c.*561T>A (n.*561T>A) c.540T>A (p.Phe180Leu) c.642T>A (p.Phe214Leu) c.*254T>A (n.*254T>A) c.645T>A (p.Phe215Leu) | |
| X | g.134413879T>C | CA518651132 | PHF6 | c.*561T>C (n.*561T>C) c.540T>C (p.Phe180=) c.642T>C (p.Phe214=) c.*254T>C (n.*254T>C) c.645T>C (p.Phe215=) | gnomAD v4 |
| X | g.134413879T>G | CA414712891 | PHF6 | c.*561T>G (n.*561T>G) c.540T>G (p.Phe180Leu) c.642T>G (p.Phe214Leu) c.*254T>G (n.*254T>G) c.645T>G (p.Phe215Leu) | |
| X | g.134413880T>A | CA414712892 | PHF6 | c.*562T>A (n.*562T>A) c.541T>A (p.Cys181Ser) c.643T>A (p.Cys215Ser) c.*255T>A (n.*255T>A) c.646T>A (p.Cys216Ser) | |
| X | g.134413880T>C | CA414712893 | PHF6 | c.*562T>C (n.*562T>C) c.541T>C (p.Cys181Arg) c.643T>C (p.Cys215Arg) c.*255T>C (n.*255T>C) c.646T>C (p.Cys216Arg) | COSMIC COSMIC COSMIC |
| X | g.134413880T>G | CA414712894 | PHF6 | c.*562T>G (n.*562T>G) c.541T>G (p.Cys181Gly) c.643T>G (p.Cys215Gly) c.*255T>G (n.*255T>G) c.646T>G (p.Cys216Gly) | |
| X | g.134413881G>A | CA414712895 | PHF6 | c.*563G>A (n.*563G>A) c.542G>A (p.Cys181Tyr) c.644G>A (p.Cys215Tyr) c.*256G>A (n.*256G>A) c.647G>A (p.Cys216Tyr) | |
| X | g.134413881G>C | CA414712896 | PHF6 | c.*563G>C (n.*563G>C) c.542G>C (p.Cys181Ser) c.644G>C (p.Cys215Ser) c.*256G>C (n.*256G>C) c.647G>C (p.Cys216Ser) | |
| X | g.134413881G>T | CA414712897 | PHF6 | c.*563G>T (n.*563G>T) c.542G>T (p.Cys181Phe) c.644G>T (p.Cys215Phe) c.*256G>T (n.*256G>T) c.647G>T (p.Cys216Phe) | |
| X | g.134413882C>A | CA414712898 | PHF6 | c.*564C>A (n.*564C>A) c.543C>A (p.Cys181Ter) c.645C>A (p.Cys215Ter) c.*257C>A (n.*257C>A) c.648C>A (p.Cys216Ter) | |
| X | g.134413882C>G | CA414712899 | PHF6 | c.*564C>G (n.*564C>G) c.543C>G (p.Cys181Trp) c.645C>G (p.Cys215Trp) c.*257C>G (n.*257C>G) c.648C>G (p.Cys216Trp) | |
| X | g.134413882C>T | CA518651139 | PHF6 | c.*564C>T (n.*564C>T) c.543C>T (p.Cys181=) c.645C>T (p.Cys215=) c.*257C>T (n.*257C>T) c.648C>T (p.Cys216=) | gnomAD v4 |
| X | g.134413883C>A | CA414712902 | PHF6 | c.*565C>A (n.*565C>A) c.544C>A (p.His182Asn) c.646C>A (p.His216Asn) c.*258C>A (n.*258C>A) c.649C>A (p.His217Asn) | |
| X | g.134413883C>G | CA414712901 | PHF6 | c.*565C>G (n.*565C>G) c.544C>G (p.His182Asp) c.646C>G (p.His216Asp) c.*258C>G (n.*258C>G) c.649C>G (p.His217Asp) | |
| X | g.134413883C>T | CA414712900 | PHF6 | c.*565C>T (n.*565C>T) c.544C>T (p.His182Tyr) c.646C>T (p.His216Tyr) c.*258C>T (n.*258C>T) c.649C>T (p.His217Tyr) | |
| X | g.134413884A>C | CA414712903 | PHF6 | c.*566A>C (n.*566A>C) c.545A>C (p.His182Pro) c.647A>C (p.His216Pro) c.*259A>C (n.*259A>C) c.650A>C (p.His217Pro) | |
| X | g.134413884A>G | CA414712905 | PHF6 | c.*566A>G (n.*566A>G) c.545A>G (p.His182Arg) c.647A>G (p.His216Arg) c.*259A>G (n.*259A>G) c.650A>G (p.His217Arg) | |
| X | g.134413884A>T | CA414712904 | PHF6 | c.*566A>T (n.*566A>T) c.545A>T (p.His182Leu) c.647A>T (p.His216Leu) c.*259A>T (n.*259A>T) c.650A>T (p.His217Leu) | |
| X | g.134413885T>A | CA414712906 | PHF6 | c.*567T>A (n.*567T>A) c.546T>A (p.His182Gln) c.648T>A (p.His216Gln) c.*260T>A (n.*260T>A) c.651T>A (p.His217Gln) | |
| X | g.134413885T>C | CA10521246 | PHF6 | c.*567T>C (n.*567T>C) c.546T>C (p.His182=) c.648T>C (p.His216=) c.*260T>C (n.*260T>C) c.651T>C (p.His217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.134413885T>G | CA414712907 | PHF6 | c.*567T>G (n.*567T>G) c.546T>G (p.His182Gln) c.648T>G (p.His216Gln) c.*260T>G (n.*260T>G) c.651T>G (p.His217Gln) | |
| X | g.134413885T= | CA2459717459 | PHF6 | c.*567T= (n.*567T=) c.546T= (p.His182=) c.648T= (p.His216=) c.*260T= (n.*260T=) c.651T= (p.His217=) | |
| X | g.134413886G>A | CA414712908 | PHF6 | c.*568G>A (n.*568G>A) c.547G>A (p.Val183Ile) c.649G>A (p.Val217Ile) c.*261G>A (n.*261G>A) c.652G>A (p.Val218Ile) | |
| X | g.134413886G>C | CA414712910 | PHF6 | c.*568G>C (n.*568G>C) c.547G>C (p.Val183Leu) c.649G>C (p.Val217Leu) c.*261G>C (n.*261G>C) c.652G>C (p.Val218Leu) | |
| X | g.134413886G>T | CA414712909 | PHF6 | c.*568G>T (n.*568G>T) c.547G>T (p.Val183Leu) c.649G>T (p.Val217Leu) c.*261G>T (n.*261G>T) c.652G>T (p.Val218Leu) | gnomAD v4 |
| X | g.134413887T>A | CA414712911 | PHF6 | c.*569T>A (n.*569T>A) c.548T>A (p.Val183Glu) c.650T>A (p.Val217Glu) c.*262T>A (n.*262T>A) c.653T>A (p.Val218Glu) | |
| X | g.134413887T>C | CA414712912 | PHF6 | c.*569T>C (n.*569T>C) c.548T>C (p.Val183Ala) c.650T>C (p.Val217Ala) c.*262T>C (n.*262T>C) c.653T>C (p.Val218Ala) | |
| X | g.134413887T>G | CA414712913 | PHF6 | c.*569T>G (n.*569T>G) c.548T>G (p.Val183Gly) c.650T>G (p.Val217Gly) c.*262T>G (n.*262T>G) c.653T>G (p.Val218Gly) | |
| X | g.134413888A>C | CA518651149 | PHF6 | c.*570A>C (n.*570A>C) c.549A>C (p.Val183=) c.651A>C (p.Val217=) c.*263A>C (n.*263A>C) c.654A>C (p.Val218=) | |
| X | g.134413888A>G | CA518651151 | PHF6 | c.*570A>G (n.*570A>G) c.549A>G (p.Val183=) c.651A>G (p.Val217=) c.*263A>G (n.*263A>G) c.654A>G (p.Val218=) | |
| X | g.134413888A>T | CA518651153 | PHF6 | c.*570A>T (n.*570A>T) c.549A>T (p.Val183=) c.651A>T (p.Val217=) c.*263A>T (n.*263A>T) c.654A>T (p.Val218=) | |
| X | g.134413888_134413889insT | CA2695202447 | PHF6 | c.*570_*571insT (n.*570_*571insT) c.549_550insT (p.Gly184TrpfsTer6) c.651_652insT (p.Gly218TrpfsTer6) c.*263_*264insT (n.*263_*264insT) c.654_655insT (p.Gly219TrpfsTer6) | |
| X | g.134413889G>A | CA414712914 | PHF6 | c.*571G>A (n.*571G>A) c.550G>A (p.Gly184Arg) c.652G>A (p.Gly218Arg) c.*264G>A (n.*264G>A) c.655G>A (p.Gly219Arg) | |
| X | g.134413889G>C | CA414712915 | PHF6 | c.*571G>C (n.*571G>C) c.550G>C (p.Gly184Arg) c.652G>C (p.Gly218Arg) c.*264G>C (n.*264G>C) c.655G>C (p.Gly219Arg) | |
| X | g.134413889G>T | CA414712916 | PHF6 | c.*571G>T (n.*571G>T) c.550G>T (p.Gly184Trp) c.652G>T (p.Gly218Trp) c.*264G>T (n.*264G>T) c.655G>T (p.Gly219Trp) | |
| X | g.134413889_134413892del | CA2823680727 | PHF6 | c.*571_*574del (n.*571_*574del) c.550_553del (p.Gly184ArgfsTer?) c.652_655del (p.Gly218ArgfsTer?) c.*264_*267del (n.*264_*267del) c.655_658del (p.Gly219ArgfsTer?) | |
| X | g.134413890G>A | CA414712917 | PHF6 | c.*572G>A (n.*572G>A) c.551G>A (p.Gly184Glu) c.653G>A (p.Gly218Glu) c.*265G>A (n.*265G>A) c.656G>A (p.Gly219Glu) | |
| X | g.134413890G>C | CA414712918 | PHF6 | c.*572G>C (n.*572G>C) c.551G>C (p.Gly184Ala) c.653G>C (p.Gly218Ala) c.*265G>C (n.*265G>C) c.656G>C (p.Gly219Ala) | |
| X | g.134413890G>T | CA414712919 | PHF6 | c.*572G>T (n.*572G>T) c.551G>T (p.Gly184Val) c.653G>T (p.Gly218Val) c.*265G>T (n.*265G>T) c.656G>T (p.Gly219Val) | |
| X | g.134413890_134413904delinsCCCTTTAAAGGGA | CA645602527 | PHF6 | c.*572_*586delinsCCCTTTAAAGGGA (n.*572_*586delinsCCCTTTAAAGGGA) c.551_565delinsCCCTTTAAAGGGA (p.Gly184AlafsTer3) c.653_667delinsCCCTTTAAAGGGA (p.Gly218AlafsTer3) c.*265_*279delinsCCCTTTAAAGGGA (n.*265_*279delinsCCCTTTAAAGGGA) c.656_670delinsCCCTTTAAAGGGA (p.Gly219AlafsTer3) | COSMIC |
| X | g.134413891G>A | CA518651157 | PHF6 | c.*573G>A (n.*573G>A) c.552G>A (p.Gly184=) c.654G>A (p.Gly218=) c.*266G>A (n.*266G>A) c.657G>A (p.Gly219=) | |
| X | g.134413891G>C | CA518651159 | PHF6 | c.*573G>C (n.*573G>C) c.552G>C (p.Gly184=) c.654G>C (p.Gly218=) c.*266G>C (n.*266G>C) c.657G>C (p.Gly219=) | |
| X | g.134413891G>T | CA518651161 | PHF6 | c.*573G>T (n.*573G>T) c.552G>T (p.Gly184=) c.654G>T (p.Gly218=) c.*266G>T (n.*266G>T) c.657G>T (p.Gly219=) | |
| X | g.134413892G>A | CA414712920 | PHF6 | c.*574G>A (n.*574G>A) c.553G>A (p.Glu185Lys) c.655G>A (p.Glu219Lys) c.*267G>A (n.*267G>A) c.658G>A (p.Glu220Lys) | |
| X | g.134413892G>C | CA414712921 | PHF6 | c.*574G>C (n.*574G>C) c.553G>C (p.Glu185Gln) c.655G>C (p.Glu219Gln) c.*267G>C (n.*267G>C) c.658G>C (p.Glu220Gln) | |
| X | g.134413892G>T | CA414712922 | PHF6 | c.*574G>T (n.*574G>T) c.553G>T (p.Glu185Ter) c.655G>T (p.Glu219Ter) c.*267G>T (n.*267G>T) c.658G>T (p.Glu220Ter) | |
| X | g.134413893A>C | CA414712923 | PHF6 | c.*575A>C (n.*575A>C) c.554A>C (p.Glu185Ala) c.656A>C (p.Glu219Ala) c.*268A>C (n.*268A>C) c.659A>C (p.Glu220Ala) | |
| X | g.134413893A>G | CA414712925 | PHF6 | c.*575A>G (n.*575A>G) c.554A>G (p.Glu185Gly) c.656A>G (p.Glu219Gly) c.*268A>G (n.*268A>G) c.659A>G (p.Glu220Gly) | |
| X | g.134413893A>T | CA414712924 | PHF6 | c.*575A>T (n.*575A>T) c.554A>T (p.Glu185Val) c.656A>T (p.Glu219Val) c.*268A>T (n.*268A>T) c.659A>T (p.Glu220Val) | |
| X | g.134413893_134413894insAAAA | CA2823680728 | PHF6 | c.*575_*576insAAAA (n.*575_*576insAAAA) c.554_555insAAAA (p.Glu186LysfsTer5) c.656_657insAAAA (p.Glu220LysfsTer5) c.*268_*269insAAAA (n.*268_*269insAAAA) c.659_660insAAAA (p.Glu221LysfsTer5) | |
| X | g.134413894G>A | CA518651166 | PHF6 | c.*576G>A (n.*576G>A) c.555G>A (p.Glu185=) c.657G>A (p.Glu219=) c.*269G>A (n.*269G>A) c.660G>A (p.Glu220=) | |
| X | g.134413894G>C | CA414712926 | PHF6 | c.*576G>C (n.*576G>C) c.555G>C (p.Glu185Asp) c.657G>C (p.Glu219Asp) c.*269G>C (n.*269G>C) c.660G>C (p.Glu220Asp) | |
| X | g.134413894G>T | CA414712927 | PHF6 | c.*576G>T (n.*576G>T) c.555G>T (p.Glu185Asp) c.657G>T (p.Glu219Asp) c.*269G>T (n.*269G>T) c.660G>T (p.Glu220Asp) | |
| X | g.134413895G>A | CA414712928 | PHF6 | c.*577G>A (n.*577G>A) c.556G>A (p.Glu186Lys) c.658G>A (p.Glu220Lys) c.*270G>A (n.*270G>A) c.661G>A (p.Glu221Lys) | |
| X | g.134413895G>C | CA414712929 | PHF6 | c.*577G>C (n.*577G>C) c.556G>C (p.Glu186Gln) c.658G>C (p.Glu220Gln) c.*270G>C (n.*270G>C) c.661G>C (p.Glu221Gln) | |
| X | g.134413895G>T | CA414712930 | PHF6 | c.*577G>T (n.*577G>T) c.556G>T (p.Glu186Ter) c.658G>T (p.Glu220Ter) c.*270G>T (n.*270G>T) c.661G>T (p.Glu221Ter) | |
| X | g.134413896A>C | CA414712931 | PHF6 | c.*578A>C (n.*578A>C) c.557A>C (p.Glu186Ala) c.659A>C (p.Glu220Ala) c.*271A>C (n.*271A>C) c.662A>C (p.Glu221Ala) | |
| X | g.134413896A>G | CA414712932 | PHF6 | c.*578A>G (n.*578A>G) c.557A>G (p.Glu186Gly) c.659A>G (p.Glu220Gly) c.*271A>G (n.*271A>G) c.662A>G (p.Glu221Gly) | |
| X | g.134413896A>T | CA414712933 | PHF6 | c.*578A>T (n.*578A>T) c.557A>T (p.Glu186Val) c.659A>T (p.Glu220Val) c.*271A>T (n.*271A>T) c.662A>T (p.Glu221Val) | |
| X | g.134413897A>C | CA414712934 | PHF6 | c.*579A>C (n.*579A>C) c.558A>C (p.Glu186Asp) c.660A>C (p.Glu220Asp) c.*272A>C (n.*272A>C) c.663A>C (p.Glu221Asp) | |
| X | g.134413897A>G | CA518651173 | PHF6 | c.*579A>G (n.*579A>G) c.558A>G (p.Glu186=) c.660A>G (p.Glu220=) c.*272A>G (n.*272A>G) c.663A>G (p.Glu221=) | |
| X | g.134413897A>T | CA414712935 | PHF6 | c.*579A>T (n.*579A>T) c.558A>T (p.Glu186Asp) c.660A>T (p.Glu220Asp) c.*272A>T (n.*272A>T) c.663A>T (p.Glu221Asp) | |
| X | g.134413898G>A | CA414712938 | PHF6 | c.*580G>A (n.*580G>A) c.559G>A (p.Glu187Lys) c.661G>A (p.Glu221Lys) c.*273G>A (n.*273G>A) c.664G>A (p.Glu222Lys) | |
| X | g.134413898G>C | CA414712937 | PHF6 | c.*580G>C (n.*580G>C) c.559G>C (p.Glu187Gln) c.661G>C (p.Glu221Gln) c.*273G>C (n.*273G>C) c.664G>C (p.Glu222Gln) | |
| X | g.134413898G>T | CA414712936 | PHF6 | c.*580G>T (n.*580G>T) c.559G>T (p.Glu187Ter) c.661G>T (p.Glu221Ter) c.*273G>T (n.*273G>T) c.664G>T (p.Glu222Ter) | COSMIC COSMIC COSMIC |
| X | g.134413899A>C | CA414712941 | PHF6 | c.*581A>C (n.*581A>C) c.560A>C (p.Glu187Ala) c.662A>C (p.Glu221Ala) c.*274A>C (n.*274A>C) c.665A>C (p.Glu222Ala) | |
| X | g.134413899A>G | CA414712939 | PHF6 | c.*581A>G (n.*581A>G) c.560A>G (p.Glu187Gly) c.662A>G (p.Glu221Gly) c.*274A>G (n.*274A>G) c.665A>G (p.Glu222Gly) | |
| X | g.134413899A>T | CA414712940 | PHF6 | c.*581A>T (n.*581A>T) c.560A>T (p.Glu187Val) c.662A>T (p.Glu221Val) c.*274A>T (n.*274A>T) c.665A>T (p.Glu222Val) | |
| X | g.134413900A>C | CA414712942 | PHF6 | c.*582A>C (n.*582A>C) c.561A>C (p.Glu187Asp) c.663A>C (p.Glu221Asp) c.*275A>C (n.*275A>C) c.666A>C (p.Glu222Asp) | |
| X | g.134413900A>G | CA518651178 | PHF6 | c.*582A>G (n.*582A>G) c.561A>G (p.Glu187=) c.663A>G (p.Glu221=) c.*275A>G (n.*275A>G) c.666A>G (p.Glu222=) | |
| X | g.134413900A>T | CA414712943 | PHF6 | c.*582A>T (n.*582A>T) c.561A>T (p.Glu187Asp) c.663A>T (p.Glu221Asp) c.*275A>T (n.*275A>T) c.666A>T (p.Glu222Asp) | |
| X | g.134413901A>C | CA414712944 | PHF6 | c.*583A>C (n.*583A>C) c.562A>C (p.Asn188His) c.664A>C (p.Asn222His) c.*276A>C (n.*276A>C) c.667A>C (p.Asn223His) | |
| X | g.134413901A>G | CA414712945 | PHF6 | c.*583A>G (n.*583A>G) c.562A>G (p.Asn188Asp) c.664A>G (p.Asn222Asp) c.*276A>G (n.*276A>G) c.667A>G (p.Asn223Asp) | |
| X | g.134413901A>T | CA414712946 | PHF6 | c.*583A>T (n.*583A>T) c.562A>T (p.Asn188Tyr) c.664A>T (p.Asn222Tyr) c.*276A>T (n.*276A>T) c.667A>T (p.Asn223Tyr) | |
| X | g.134413902A>C | CA414712947 | PHF6 | c.*584A>C (n.*584A>C) c.563A>C (p.Asn188Thr) c.665A>C (p.Asn222Thr) c.*277A>C (n.*277A>C) c.668A>C (p.Asn223Thr) | |
| X | g.134413902A>G | CA414712948 | PHF6 | c.*584A>G (n.*584A>G) c.563A>G (p.Asn188Ser) c.665A>G (p.Asn222Ser) c.*277A>G (n.*277A>G) c.668A>G (p.Asn223Ser) | |
| X | g.134413902A>T | CA414712949 | PHF6 | c.*584A>T (n.*584A>T) c.563A>T (p.Asn188Ile) c.665A>T (p.Asn222Ile) c.*277A>T (n.*277A>T) c.668A>T (p.Asn223Ile) | |
| X | g.134413903T>A | CA414712950 | PHF6 | c.*585T>A (n.*585T>A) c.564T>A (p.Asn188Lys) c.666T>A (p.Asn222Lys) c.*278T>A (n.*278T>A) c.669T>A (p.Asn223Lys) | |
| X | g.134413903T>C | CA518651183 | PHF6 | c.*585T>C (n.*585T>C) c.564T>C (p.Asn188=) c.666T>C (p.Asn222=) c.*278T>C (n.*278T>C) c.669T>C (p.Asn223=) | |
| X | g.134413903T>G | CA414712951 | PHF6 | c.*585T>G (n.*585T>G) c.564T>G (p.Asn188Lys) c.666T>G (p.Asn222Lys) c.*278T>G (n.*278T>G) c.669T>G (p.Asn223Lys) | |
| X | g.134413904G>A | CA414712954 | PHF6 | c.*586G>A (n.*586G>A) c.565G>A (p.Glu189Lys) c.667G>A (p.Glu223Lys) c.*279G>A (n.*279G>A) c.670G>A (p.Glu224Lys) | gnomAD v4 |
| X | g.134413904G>C | CA414712953 | PHF6 | c.*586G>C (n.*586G>C) c.565G>C (p.Glu189Gln) c.667G>C (p.Glu223Gln) c.*279G>C (n.*279G>C) c.670G>C (p.Glu224Gln) | |
| X | g.134413904G>T | CA414712952 | PHF6 | c.*586G>T (n.*586G>T) c.565G>T (p.Glu189Ter) c.667G>T (p.Glu223Ter) c.*279G>T (n.*279G>T) c.670G>T (p.Glu224Ter) | |
| X | g.134413905A>C | CA414712955 | PHF6 | c.*587A>C (n.*587A>C) c.566A>C (p.Glu189Ala) c.668A>C (p.Glu223Ala) c.*280A>C (n.*280A>C) c.671A>C (p.Glu224Ala) | |
| X | g.134413905A>G | CA414712956 | PHF6 | c.*587A>G (n.*587A>G) c.566A>G (p.Glu189Gly) c.668A>G (p.Glu223Gly) c.*280A>G (n.*280A>G) c.671A>G (p.Glu224Gly) | |
| X | g.134413905A>T | CA414712957 | PHF6 | c.*587A>T (n.*587A>T) c.566A>T (p.Glu189Val) c.668A>T (p.Glu223Val) c.*280A>T (n.*280A>T) c.671A>T (p.Glu224Val) | |
| X | g.134413906A>C | CA414712958 | PHF6 | c.*588A>C (n.*588A>C) c.567A>C (p.Glu189Asp) c.669A>C (p.Glu223Asp) c.*281A>C (n.*281A>C) c.672A>C (p.Glu224Asp) | |
| X | g.134413906A>G | CA518651196 | PHF6 | c.*588A>G (n.*588A>G) c.567A>G (p.Glu189=) c.669A>G (p.Glu223=) c.*281A>G (n.*281A>G) c.672A>G (p.Glu224=) | |
| X | g.134413906A>T | CA414712959 | PHF6 | c.*588A>T (n.*588A>T) c.567A>T (p.Glu189Asp) c.669A>T (p.Glu223Asp) c.*281A>T (n.*281A>T) c.672A>T (p.Glu224Asp) | |
| X | g.134413907G>A | CA414712960 | PHF6 | c.*589G>A (n.*589G>A) c.568G>A (p.Ala190Thr) c.670G>A (p.Ala224Thr) c.*282G>A (n.*282G>A) c.673G>A (p.Ala225Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.134413907G>C | CA414712961 | PHF6 | c.*589G>C (n.*589G>C) c.568G>C (p.Ala190Pro) c.670G>C (p.Ala224Pro) c.*282G>C (n.*282G>C) c.673G>C (p.Ala225Pro) | |
| X | g.134413907G= | CA2459717460 | PHF6 | c.*589G= (n.*589G=) c.568G= (p.Ala190=) c.670G= (p.Ala224=) c.*282G= (n.*282G=) c.673G= (p.Ala225=) | |
| X | g.134413907G>T | CA414712962 | PHF6 | c.*589G>T (n.*589G>T) c.568G>T (p.Ala190Ser) c.670G>T (p.Ala224Ser) c.*282G>T (n.*282G>T) c.673G>T (p.Ala225Ser) | |
| X | g.134413908C>A | CA414712963 | PHF6 | c.*590C>A (n.*590C>A) c.569C>A (p.Ala190Glu) c.671C>A (p.Ala224Glu) c.*283C>A (n.*283C>A) c.674C>A (p.Ala225Glu) | |
| X | g.134413908C>G | CA414712964 | PHF6 | c.*590C>G (n.*590C>G) c.569C>G (p.Ala190Gly) c.671C>G (p.Ala224Gly) c.*283C>G (n.*283C>G) c.674C>G (p.Ala225Gly) | |
| X | g.134413908C>T | CA414712965 | PHF6 | c.*590C>T (n.*590C>T) c.569C>T (p.Ala190Val) c.671C>T (p.Ala224Val) c.*283C>T (n.*283C>T) c.674C>T (p.Ala225Val) | COSMIC COSMIC COSMIC |
| X | g.134413909A>C | CA518651204 | PHF6 | c.*591A>C (n.*591A>C) c.570A>C (p.Ala190=) c.672A>C (p.Ala224=) c.*284A>C (n.*284A>C) c.675A>C (p.Ala225=) | |
| X | g.134413909A>G | CA518651205 | PHF6 | c.*591A>G (n.*591A>G) c.570A>G (p.Ala190=) c.672A>G (p.Ala224=) c.*284A>G (n.*284A>G) c.675A>G (p.Ala225=) | |
| X | g.134413909A>T | CA518651206 | PHF6 | c.*591A>T (n.*591A>T) c.570A>T (p.Ala190=) c.672A>T (p.Ala224=) c.*284A>T (n.*284A>T) c.675A>T (p.Ala225=) | |
| X | g.134413910C>A | CA518651208 | PHF6 | c.*592C>A (n.*592C>A) c.571C>A (p.Arg191=) c.673C>A (p.Arg225=) c.*285C>A (n.*285C>A) c.676C>A (p.Arg226=) | |
| X | g.134413910C= | CA2459717461 | PHF6 | c.*592C= (n.*592C=) c.571C= (p.Arg191=) c.673C= (p.Arg225=) c.*285C= (n.*285C=) c.676C= (p.Arg226=) | |
| X | g.134413910C>G | CA414712966 | PHF6 | c.*592C>G (n.*592C>G) c.571C>G (p.Arg191Gly) c.673C>G (p.Arg225Gly) c.*285C>G (n.*285C>G) c.676C>G (p.Arg226Gly) | |
| X | g.134413910C>T | CA414712967 | PHF6 | c.*592C>T (n.*592C>T) c.571C>T (p.Arg191Ter) c.673C>T (p.Arg225Ter) c.*285C>T (n.*285C>T) c.676C>T (p.Arg226Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.134413910_134413911insT | CA645602530 | PHF6 | c.*592_*593insT (n.*592_*593insT) c.571_572insT (p.Arg191LeufsTer8) c.673_674insT (p.Arg225LeufsTer8) c.*285_*286insT (n.*285_*286insT) c.676_677insT (p.Arg226LeufsTer8) | COSMIC COSMIC COSMIC |
| X | g.134413911G>A | CA414712969 | PHF6 | c.*593G>A (n.*593G>A) c.572G>A (p.Arg191Gln) c.674G>A (p.Arg225Gln) c.*286G>A (n.*286G>A) c.677G>A (p.Arg226Gln) | COSMIC COSMIC COSMIC |
| X | g.134413911G>C | CA414712970 | PHF6 | c.*593G>C (n.*593G>C) c.572G>C (p.Arg191Pro) c.674G>C (p.Arg225Pro) c.*286G>C (n.*286G>C) c.677G>C (p.Arg226Pro) | |
| X | g.134413911G>T | CA414712968 | PHF6 | c.*593G>T (n.*593G>T) c.572G>T (p.Arg191Leu) c.674G>T (p.Arg225Leu) c.*286G>T (n.*286G>T) c.677G>T (p.Arg226Leu) | |
| X | g.134413912A>C | CA518651213 | PHF6 | c.*594A>C (n.*594A>C) c.573A>C (p.Arg191=) c.675A>C (p.Arg225=) c.*287A>C (n.*287A>C) c.678A>C (p.Arg226=) | |
| X | g.134413912A>G | CA518651218 | PHF6 | c.*594A>G (n.*594A>G) c.573A>G (p.Arg191=) c.675A>G (p.Arg225=) c.*287A>G (n.*287A>G) c.678A>G (p.Arg226=) | COSMIC COSMIC COSMIC |
| X | g.134413912A>T | CA518651219 | PHF6 | c.*594A>T (n.*594A>T) c.573A>T (p.Arg191=) c.675A>T (p.Arg225=) c.*287A>T (n.*287A>T) c.678A>T (p.Arg226=) | |
| X | g.134413913G>A | CA414712971 | PHF6 | c.*595G>A (n.*595G>A) c.574G>A (p.Gly192Arg) c.676G>A (p.Gly226Arg) c.*288G>A (n.*288G>A) c.679G>A (p.Gly227Arg) | |
| X | g.134413913G>C | CA414712973 | PHF6 | c.*595G>C (n.*595G>C) c.574G>C (p.Gly192Arg) c.676G>C (p.Gly226Arg) c.*288G>C (n.*288G>C) c.679G>C (p.Gly227Arg) | |
| X | g.134413913G>T | CA414712972 | PHF6 | c.*595G>T (n.*595G>T) c.574G>T (p.Gly192Ter) c.676G>T (p.Gly226Ter) c.*288G>T (n.*288G>T) c.679G>T (p.Gly227Ter) | |
| X | g.134413914del | CA2695236439 | PHF6 | c.*596del (n.*596del) c.575del (p.Gly192GlufsTer?) c.677del (p.Gly226GlufsTer?) c.*289del (n.*289del) c.680del (p.Gly227GlufsTer?) | |
| X | g.134413914G>A | CA414712974 | PHF6 | c.*596G>A (n.*596G>A) c.575G>A (p.Gly192Glu) c.677G>A (p.Gly226Glu) c.*289G>A (n.*289G>A) c.680G>A (p.Gly227Glu) | COSMIC COSMIC COSMIC |
| X | g.134413914G>C | CA414712975 | PHF6 | c.*596G>C (n.*596G>C) c.575G>C (p.Gly192Ala) c.677G>C (p.Gly226Ala) c.*289G>C (n.*289G>C) c.680G>C (p.Gly227Ala) | |
| X | g.134413914G>T | CA414712976 | PHF6 | c.*596G>T (n.*596G>T) c.575G>T (p.Gly192Val) c.677G>T (p.Gly226Val) c.*289G>T (n.*289G>T) c.680G>T (p.Gly227Val) | |
| X | g.134413915A= | CA2459717462 | PHF6 | c.*597A= (n.*597A=) c.576A= (p.Gly192=) c.678A= (p.Gly226=) c.*290A= (n.*290A=) c.681A= (p.Gly227=) | |
| X | g.134413915A>C | CA518651225 | PHF6 | c.*597A>C (n.*597A>C) c.576A>C (p.Gly192=) c.678A>C (p.Gly226=) c.*290A>C (n.*290A>C) c.681A>C (p.Gly227=) | |
| X | g.134413915A>G | CA518651226 | PHF6 | c.*597A>G (n.*597A>G) c.576A>G (p.Gly192=) c.678A>G (p.Gly226=) c.*290A>G (n.*290A>G) c.681A>G (p.Gly227=) | dbSNP |
| X | g.134413915A>T | CA518651228 | PHF6 | c.*597A>T (n.*597A>T) c.576A>T (p.Gly192=) c.678A>T (p.Gly226=) c.*290A>T (n.*290A>T) c.681A>T (p.Gly227=) | |
| X | g.134413916A>C | CA414712977 | PHF6 | c.*598A>C (n.*598A>C) c.577A>C (p.Lys193Gln) c.679A>C (p.Lys227Gln) c.*291A>C (n.*291A>C) c.682A>C (p.Lys228Gln) | |
| X | g.134413916A>G | CA414712978 | PHF6 | c.*598A>G (n.*598A>G) c.577A>G (p.Lys193Glu) c.679A>G (p.Lys227Glu) c.*291A>G (n.*291A>G) c.682A>G (p.Lys228Glu) | |
| X | g.134413916A>T | CA414712979 | PHF6 | c.*598A>T (n.*598A>T) c.577A>T (p.Lys193Ter) c.679A>T (p.Lys227Ter) c.*291A>T (n.*291A>T) c.682A>T (p.Lys228Ter) | |
| X | g.134413917A>C | CA414712980 | PHF6 | c.*599A>C (n.*599A>C) c.578A>C (p.Lys193Thr) c.680A>C (p.Lys227Thr) c.*292A>C (n.*292A>C) c.683A>C (p.Lys228Thr) | |
| X | g.134413917A>G | CA414712981 | PHF6 | c.*599A>G (n.*599A>G) c.578A>G (p.Lys193Arg) c.680A>G (p.Lys227Arg) c.*292A>G (n.*292A>G) c.683A>G (p.Lys228Arg) | |
| X | g.134413917A>T | CA414712982 | PHF6 | c.*599A>T (n.*599A>T) c.578A>T (p.Lys193Ile) c.680A>T (p.Lys227Ile) c.*292A>T (n.*292A>T) c.683A>T (p.Lys228Ile) | |
| X | g.134413918A= | CA2459717463 | PHF6 | c.*600A= (n.*600A=) c.579A= (p.Lys193=) c.681A= (p.Lys227=) c.*293A= (n.*293A=) c.684A= (p.Lys228=) | |
| X | g.134413918A>C | CA414712983 | PHF6 | c.*600A>C (n.*600A>C) c.579A>C (p.Lys193Asn) c.681A>C (p.Lys227Asn) c.*293A>C (n.*293A>C) c.684A>C (p.Lys228Asn) | |
| X | g.134413918A>G | CA518651239 | PHF6 | c.*600A>G (n.*600A>G) c.579A>G (p.Lys193=) c.681A>G (p.Lys227=) c.*293A>G (n.*293A>G) c.684A>G (p.Lys228=) | |
| X | g.134413918A>T | CA414712984 | PHF6 | c.*600A>T (n.*600A>T) c.579A>T (p.Lys193Asn) c.681A>T (p.Lys227Asn) c.*293A>T (n.*293A>T) c.684A>T (p.Lys228Asn) | |
| X | g.134413918_134413919insAAAT | CA2459717464 | PHF6 | c.*600_*601insAAAT (n.*600_*601insAAAT) c.579_580insAAAT (p.Leu194LysfsTer6) c.681_682insAAAT (p.Leu228LysfsTer6) c.*293_*294insAAAT (n.*293_*294insAAAT) c.684_685insAAAT (p.Leu229LysfsTer6) | dbSNP |
| X | g.134413919C>A | CA414712986 | PHF6 | c.*601C>A (n.*601C>A) c.580C>A (p.Leu194Met) c.682C>A (p.Leu228Met) c.*294C>A (n.*294C>A) c.685C>A (p.Leu229Met) | |
| X | g.134413919C>G | CA414712985 | PHF6 | c.*601C>G (n.*601C>G) c.580C>G (p.Leu194Val) c.682C>G (p.Leu228Val) c.*294C>G (n.*294C>G) c.685C>G (p.Leu229Val) | |
| X | g.134413919C>T | CA518651244 | PHF6 | c.*601C>T (n.*601C>T) c.580C>T (p.Leu194=) c.682C>T (p.Leu228=) c.*294C>T (n.*294C>T) c.685C>T (p.Leu229=) | |
| X | g.134413920T>A | CA414712987 | PHF6 | c.*602T>A (n.*602T>A) c.581T>A (p.Leu194Gln) c.683T>A (p.Leu228Gln) c.*295T>A (n.*295T>A) c.686T>A (p.Leu229Gln) | |
| X | g.134413920T>C | CA414712988 | PHF6 | c.*602T>C (n.*602T>C) c.581T>C (p.Leu194Pro) c.683T>C (p.Leu228Pro) c.*295T>C (n.*295T>C) c.686T>C (p.Leu229Pro) | |
| X | g.134413920T>G | CA414712989 | PHF6 | c.*602T>G (n.*602T>G) c.581T>G (p.Leu194Arg) c.683T>G (p.Leu228Arg) c.*295T>G (n.*295T>G) c.686T>G (p.Leu229Arg) | |
| X | g.134413921G>A | CA518651256 | PHF6 | c.*603G>A (n.*603G>A) c.582G>A (p.Leu194=) c.684G>A (p.Leu228=) c.*296G>A (n.*296G>A) c.687G>A (p.Leu229=) | gnomAD v4 |
| X | g.134413921G>C | CA518651254 | PHF6 | c.*603G>C (n.*603G>C) c.582G>C (p.Leu194=) c.684G>C (p.Leu228=) c.*296G>C (n.*296G>C) c.687G>C (p.Leu229=) | |
| X | g.134413921G>T | CA518651253 | PHF6 | c.*603G>T (n.*603G>T) c.582G>T (p.Leu194=) c.684G>T (p.Leu228=) c.*296G>T (n.*296G>T) c.687G>T (p.Leu229=) | COSMIC COSMIC COSMIC |
| X | g.134413922C>A | CA414712990 | PHF6 | c.*604C>A (n.*604C>A) c.583C>A (p.His195Asn) c.685C>A (p.His229Asn) c.*297C>A (n.*297C>A) c.688C>A (p.His230Asn) | dbSNP |
| X | g.134413922C= | CA2459717465 | PHF6 | c.*604C= (n.*604C=) c.583C= (p.His195=) c.685C= (p.His229=) c.*297C= (n.*297C=) c.688C= (p.His230=) | |
| X | g.134413922C>G | CA414712991 | PHF6 | c.*604C>G (n.*604C>G) c.583C>G (p.His195Asp) c.685C>G (p.His229Asp) c.*297C>G (n.*297C>G) c.688C>G (p.His230Asp) | |
| X | g.134413922C>T | CA414712992 | PHF6 | c.*604C>T (n.*604C>T) c.583C>T (p.His195Tyr) c.685C>T (p.His229Tyr) c.*297C>T (n.*297C>T) c.688C>T (p.His230Tyr) | |
| X | g.134413923A= | CA2459717466 | PHF6 | c.*605A= (n.*605A=) c.584A= (p.His195=) c.686A= (p.His229=) c.*298A= (n.*298A=) c.689A= (p.His230=) | |
| X | g.134413923A>C | CA414712993 | PHF6 | c.*605A>C (n.*605A>C) c.584A>C (p.His195Pro) c.686A>C (p.His229Pro) c.*298A>C (n.*298A>C) c.689A>C (p.His230Pro) | |
| X | g.134413923A>G | CA121330 | PHF6 | c.*605A>G (n.*605A>G) c.584A>G (p.His195Arg) c.686A>G (p.His229Arg) c.*298A>G (n.*298A>G) c.689A>G (p.His230Arg) | ClinVar dbSNP |
| X | g.134413923A>T | CA414712994 | PHF6 | c.*605A>T (n.*605A>T) c.584A>T (p.His195Leu) c.686A>T (p.His229Leu) c.*298A>T (n.*298A>T) c.689A>T (p.His230Leu) | |
| X | g.134413924T>A | CA414712995 | PHF6 | c.*606T>A (n.*606T>A) c.585T>A (p.His195Gln) c.687T>A (p.His229Gln) c.*299T>A (n.*299T>A) c.690T>A (p.His230Gln) | dbSNP |
| X | g.134413924T>C | CA518651263 | PHF6 | c.*606T>C (n.*606T>C) c.585T>C (p.His195=) c.687T>C (p.His229=) c.*299T>C (n.*299T>C) c.690T>C (p.His230=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.134413924T>G | CA414712996 | PHF6 | c.*606T>G (n.*606T>G) c.585T>G (p.His195Gln) c.687T>G (p.His229Gln) c.*299T>G (n.*299T>G) c.690T>G (p.His230Gln) | |
| X | g.134413924T= | CA2459717467 | PHF6 | c.*606T= (n.*606T=) c.585T= (p.His195=) c.687T= (p.His229=) c.*299T= (n.*299T=) c.690T= (p.His230=) | |
| X | g.134413925A= | CA2459717468 | PHF6 | c.*607A= (n.*607A=) c.586A= (p.Ile196=) c.688A= (p.Ile230=) c.*300A= (n.*300A=) c.691A= (p.Ile231=) | |
| X | g.134413925A>C | CA414712998 | PHF6 | c.*607A>C (n.*607A>C) c.586A>C (p.Ile196Leu) c.688A>C (p.Ile230Leu) c.*300A>C (n.*300A>C) c.691A>C (p.Ile231Leu) | |
| X | g.134413925A>G | CA247345 | PHF6 | c.*607A>G (n.*607A>G) c.586A>G (p.Ile196Val) c.688A>G (p.Ile230Val) c.*300A>G (n.*300A>G) c.691A>G (p.Ile231Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.134413925A>T | CA414712997 | PHF6 | c.*607A>T (n.*607A>T) c.586A>T (p.Ile196Leu) c.688A>T (p.Ile230Leu) c.*300A>T (n.*300A>T) c.691A>T (p.Ile231Leu) | |
| X | g.134413926T>A | CA414712999 | PHF6 | c.*608T>A (n.*608T>A) c.587T>A (p.Ile196Lys) c.689T>A (p.Ile230Lys) c.*301T>A (n.*301T>A) c.692T>A (p.Ile231Lys) | |
| X | g.134413926T>C | CA414713000 | PHF6 | c.*608T>C (n.*608T>C) c.587T>C (p.Ile196Thr) c.689T>C (p.Ile230Thr) c.*301T>C (n.*301T>C) c.692T>C (p.Ile231Thr) | |
| X | g.134413926T>G | CA414713001 | PHF6 | c.*608T>G (n.*608T>G) c.587T>G (p.Ile196Arg) c.689T>G (p.Ile230Arg) c.*301T>G (n.*301T>G) c.692T>G (p.Ile231Arg) | |
| X | g.134413927A>C | CA518651265 | PHF6 | c.*609A>C (n.*609A>C) c.588A>C (p.Ile196=) c.690A>C (p.Ile230=) c.*302A>C (n.*302A>C) c.693A>C (p.Ile231=) | |
| X | g.134413927A>G | CA414713002 | PHF6 | c.*609A>G (n.*609A>G) c.588A>G (p.Ile196Met) c.690A>G (p.Ile230Met) c.*302A>G (n.*302A>G) c.693A>G (p.Ile231Met) | |
| X | g.134413927A>T | CA518651266 | PHF6 | c.*609A>T (n.*609A>T) c.588A>T (p.Ile196=) c.690A>T (p.Ile230=) c.*302A>T (n.*302A>T) c.693A>T (p.Ile231=) | |
| X | g.134413928T>A | CA414713003 | PHF6 | c.*610T>A (n.*610T>A) c.589T>A (p.Phe197Ile) c.691T>A (p.Phe231Ile) c.*303T>A (n.*303T>A) c.694T>A (p.Phe232Ile) | |
| X | g.134413928T>C | CA414713004 | PHF6 | c.*610T>C (n.*610T>C) c.589T>C (p.Phe197Leu) c.691T>C (p.Phe231Leu) c.*303T>C (n.*303T>C) c.694T>C (p.Phe232Leu) | |
| X | g.134413928T>G | CA414713005 | PHF6 | c.*610T>G (n.*610T>G) c.589T>G (p.Phe197Val) c.691T>G (p.Phe231Val) c.*303T>G (n.*303T>G) c.694T>G (p.Phe232Val) | |
| X | g.134413929T>A | CA414713006 | PHF6 | c.*611T>A (n.*611T>A) c.590T>A (p.Phe197Tyr) c.692T>A (p.Phe231Tyr) c.*304T>A (n.*304T>A) c.695T>A (p.Phe232Tyr) | |
| X | g.134413929T>C | CA414713007 | PHF6 | c.*611T>C (n.*611T>C) c.590T>C (p.Phe197Ser) c.692T>C (p.Phe231Ser) c.*304T>C (n.*304T>C) c.695T>C (p.Phe232Ser) | |
| X | g.134413929T>G | CA414713008 | PHF6 | c.*611T>G (n.*611T>G) c.590T>G (p.Phe197Cys) c.692T>G (p.Phe231Cys) c.*304T>G (n.*304T>G) c.695T>G (p.Phe232Cys) | |
| X | g.134413930T>A | CA414713009 | PHF6 | c.*612T>A (n.*612T>A) c.591T>A (p.Phe197Leu) c.693T>A (p.Phe231Leu) c.*305T>A (n.*305T>A) c.696T>A (p.Phe232Leu) | |
| X | g.134413930T>C | CA518651268 | PHF6 | c.*612T>C (n.*612T>C) c.591T>C (p.Phe197=) c.693T>C (p.Phe231=) c.*305T>C (n.*305T>C) c.696T>C (p.Phe232=) | gnomAD v4 |
| X | g.134413930T>G | CA414713010 | PHF6 | c.*612T>G (n.*612T>G) c.591T>G (p.Phe197Leu) c.693T>G (p.Phe231Leu) c.*305T>G (n.*305T>G) c.696T>G (p.Phe232Leu) | |
| X | g.134413931A>C | CA414713013 | PHF6 | c.*613A>C (n.*613A>C) c.592A>C (p.Asn198His) c.694A>C (p.Asn232His) c.*306A>C (n.*306A>C) c.697A>C (p.Asn233His) | |
| X | g.134413931A>G | CA414713011 | PHF6 | c.*613A>G (n.*613A>G) c.592A>G (p.Asn198Asp) c.694A>G (p.Asn232Asp) c.*306A>G (n.*306A>G) c.697A>G (p.Asn233Asp) | |
| X | g.134413931A>T | CA414713012 | PHF6 | c.*613A>T (n.*613A>T) c.592A>T (p.Asn198Tyr) c.694A>T (p.Asn232Tyr) c.*306A>T (n.*306A>T) c.697A>T (p.Asn233Tyr) | |
| X | g.134413932A>C | CA414713014 | PHF6 | c.*614A>C (n.*614A>C) c.593A>C (p.Asn198Thr) c.695A>C (p.Asn232Thr) c.*307A>C (n.*307A>C) c.698A>C (p.Asn233Thr) | |
| X | g.134413932A>G | CA414713015 | PHF6 | c.*614A>G (n.*614A>G) c.593A>G (p.Asn198Ser) c.695A>G (p.Asn232Ser) c.*307A>G (n.*307A>G) c.698A>G (p.Asn233Ser) | |
| X | g.134413932A>T | CA414713016 | PHF6 | c.*614A>T (n.*614A>T) c.593A>T (p.Asn198Ile) c.695A>T (p.Asn232Ile) c.*307A>T (n.*307A>T) c.698A>T (p.Asn233Ile) | |
| X | g.134413933T>A | CA414713017 | PHF6 | c.*615T>A (n.*615T>A) c.594T>A (p.Asn198Lys) c.696T>A (p.Asn232Lys) c.*308T>A (n.*308T>A) c.699T>A (p.Asn233Lys) | |
| X | g.134413933T>C | CA10521247 | PHF6 | c.*615T>C (n.*615T>C) c.594T>C (p.Asn198=) c.696T>C (p.Asn232=) c.*308T>C (n.*308T>C) c.699T>C (p.Asn233=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.134413933T>G | CA414713018 | PHF6 | c.*615T>G (n.*615T>G) c.594T>G (p.Asn198Lys) c.696T>G (p.Asn232Lys) c.*308T>G (n.*308T>G) c.699T>G (p.Asn233Lys) | |
| X | g.134413933T= | CA2459717469 | PHF6 | c.*615T= (n.*615T=) c.594T= (p.Asn198=) c.696T= (p.Asn232=) c.*308T= (n.*308T=) c.699T= (p.Asn233=) | |
| X | g.134413934G>A | CA414713019 | PHF6 | c.*616G>A (n.*616G>A) c.595G>A (p.Ala199Thr) c.697G>A (p.Ala233Thr) c.*309G>A (n.*309G>A) c.700G>A (p.Ala234Thr) | |
| X | g.134413934G>C | CA414713020 | PHF6 | c.*616G>C (n.*616G>C) c.595G>C (p.Ala199Pro) c.697G>C (p.Ala233Pro) c.*309G>C (n.*309G>C) c.700G>C (p.Ala234Pro) | |
| X | g.134413934G>T | CA414713021 | PHF6 | c.*616G>T (n.*616G>T) c.595G>T (p.Ala199Ser) c.697G>T (p.Ala233Ser) c.*309G>T (n.*309G>T) c.700G>T (p.Ala234Ser) | |
| X | g.134413935C>A | CA414713022 | PHF6 | c.*617C>A (n.*617C>A) c.596C>A (p.Ala199Asp) c.698C>A (p.Ala233Asp) c.*310C>A (n.*310C>A) c.701C>A (p.Ala234Asp) | |
| X | g.134413935C>G | CA414713023 | PHF6 | c.*617C>G (n.*617C>G) c.596C>G (p.Ala199Gly) c.698C>G (p.Ala233Gly) c.*310C>G (n.*310C>G) c.701C>G (p.Ala234Gly) | |
| X | g.134413935C>T | CA414713024 | PHF6 | c.*617C>T (n.*617C>T) c.596C>T (p.Ala199Val) c.698C>T (p.Ala233Val) c.*310C>T (n.*310C>T) c.701C>T (p.Ala234Val) | |
| X | g.134413936C>A | CA518651279 | PHF6 | c.*618C>A (n.*618C>A) c.597C>A (p.Ala199=) c.699C>A (p.Ala233=) c.*311C>A (n.*311C>A) c.702C>A (p.Ala234=) | |
| X | g.134413936C>G | CA518651281 | PHF6 | c.*618C>G (n.*618C>G) c.597C>G (p.Ala199=) c.699C>G (p.Ala233=) c.*311C>G (n.*311C>G) c.702C>G (p.Ala234=) | |
| X | g.134413936C>T | CA518651283 | PHF6 | c.*618C>T (n.*618C>T) c.597C>T (p.Ala199=) c.699C>T (p.Ala233=) c.*311C>T (n.*311C>T) c.702C>T (p.Ala234=) | |
| X | g.134413937A= | CA2459717470 | PHF6 | c.*619A= (n.*619A=) c.598A= (p.Lys200=) c.700A= (p.Lys234=) c.*312A= (n.*312A=) c.703A= (p.Lys235=) | |
| X | g.134413937A>C | CA414713026 | PHF6 | c.*619A>C (n.*619A>C) c.598A>C (p.Lys200Gln) c.700A>C (p.Lys234Gln) c.*312A>C (n.*312A>C) c.703A>C (p.Lys235Gln) | |
| X | g.134413937A>G | CA121322 | PHF6 | c.*619A>G (n.*619A>G) c.598A>G (p.Lys200Glu) c.700A>G (p.Lys234Glu) c.*312A>G (n.*312A>G) c.703A>G (p.Lys235Glu) | ClinVar dbSNP |
| X | g.134413937A>T | CA414713025 | PHF6 | c.*619A>T (n.*619A>T) c.598A>T (p.Lys200Ter) c.700A>T (p.Lys234Ter) c.*312A>T (n.*312A>T) c.703A>T (p.Lys235Ter) | |
| X | g.134413938A>C | CA414713028 | PHF6 | c.*620A>C (n.*620A>C) c.599A>C (p.Lys200Thr) c.701A>C (p.Lys234Thr) c.*313A>C (n.*313A>C) c.704A>C (p.Lys235Thr) | |
| X | g.134413938A>G | CA414713027 | PHF6 | c.*620A>G (n.*620A>G) c.599A>G (p.Lys200Arg) c.701A>G (p.Lys234Arg) c.*313A>G (n.*313A>G) c.704A>G (p.Lys235Arg) | |
| X | g.134413938A>T | CA414713029 | PHF6 | c.*620A>T (n.*620A>T) c.599A>T (p.Lys200Met) c.701A>T (p.Lys234Met) c.*313A>T (n.*313A>T) c.704A>T (p.Lys235Met) | |
| X | g.134413939G>A | CA518651291 | PHF6 | c.*621G>A (n.*621G>A) c.600G>A (p.Lys200=) c.702G>A (p.Lys234=) c.*314G>A (n.*314G>A) c.705G>A (p.Lys235=) | |
| X | g.134413939G>C | CA414713030 | PHF6 | c.*621G>C (n.*621G>C) c.600G>C (p.Lys200Asn) c.702G>C (p.Lys234Asn) c.*314G>C (n.*314G>C) c.705G>C (p.Lys235Asn) | |
| X | g.134413939G>T | CA414713031 | PHF6 | c.*621G>T (n.*621G>T) c.600G>T (p.Lys200Asn) c.702G>T (p.Lys234Asn) c.*314G>T (n.*314G>T) c.705G>T (p.Lys235Asn) | |
| X | g.134413940A>C | CA414713032 | PHF6 | c.*622A>C (n.*622A>C) c.601A>C (p.Lys201Gln) c.703A>C (p.Lys235Gln) c.*315A>C (n.*315A>C) c.706A>C (p.Lys236Gln) | |
| X | g.134413940A>G | CA414713033 | PHF6 | c.*622A>G (n.*622A>G) c.601A>G (p.Lys201Glu) c.703A>G (p.Lys235Glu) c.*315A>G (n.*315A>G) c.706A>G (p.Lys236Glu) | |
| X | g.134413940A>T | CA414713034 | PHF6 | c.*622A>T (n.*622A>T) c.601A>T (p.Lys201Ter) c.703A>T (p.Lys235Ter) c.*315A>T (n.*315A>T) c.706A>T (p.Lys236Ter) | |
| X | g.134413941A>C | CA414713035 | PHF6 | c.*623A>C (n.*623A>C) c.602A>C (p.Lys201Thr) c.704A>C (p.Lys235Thr) c.*316A>C (n.*316A>C) c.707A>C (p.Lys236Thr) | |
| X | g.134413941A>G | CA414713036 | PHF6 | c.*623A>G (n.*623A>G) c.602A>G (p.Lys201Arg) c.704A>G (p.Lys235Arg) c.*316A>G (n.*316A>G) c.707A>G (p.Lys236Arg) | |
| X | g.134413941A>T | CA414713037 | PHF6 | c.*623A>T (n.*623A>T) c.602A>T (p.Lys201Met) c.704A>T (p.Lys235Met) c.*316A>T (n.*316A>T) c.707A>T (p.Lys236Met) | |
| X | g.134413942G>A | CA518651299 | PHF6 | c.*624G>A (n.*624G>A) c.603G>A (p.Lys201=) c.705G>A (p.Lys235=) c.*317G>A (n.*317G>A) c.708G>A (p.Lys236=) | gnomAD v4 |
| X | g.134413942G>C | CA414713038 | PHF6 | c.*624G>C (n.*624G>C) c.603G>C (p.Lys201Asn) c.705G>C (p.Lys235Asn) c.*317G>C (n.*317G>C) c.708G>C (p.Lys236Asn) | |
| X | g.134413942G>T | CA414713039 | PHF6 | c.*624G>T (n.*624G>T) c.603G>T (p.Lys201Asn) c.705G>T (p.Lys235Asn) c.*317G>T (n.*317G>T) c.708G>T (p.Lys236Asn) | |
| X | g.134413943G>A | CA247339 | PHF6 | c.*625G>A (n.*625G>A) c.604G>A (p.Ala202Thr) c.706G>A (p.Ala236Thr) c.*318G>A (n.*318G>A) c.709G>A (p.Ala237Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.134413943G>C | CA414713040 | PHF6 | c.*625G>C (n.*625G>C) c.604G>C (p.Ala202Pro) c.706G>C (p.Ala236Pro) c.*318G>C (n.*318G>C) c.709G>C (p.Ala237Pro) | |
| X | g.134413943G= | CA2459717471 | PHF6 | c.*625G= (n.*625G=) c.604G= (p.Ala202=) c.706G= (p.Ala236=) c.*318G= (n.*318G=) c.709G= (p.Ala237=) | |
| X | g.134413943G>T | CA414713041 | PHF6 | c.*625G>T (n.*625G>T) c.604G>T (p.Ala202Ser) c.706G>T (p.Ala236Ser) c.*318G>T (n.*318G>T) c.709G>T (p.Ala237Ser) | |
| X | g.134413944C>A | CA414713044 | PHF6 | c.*626C>A (n.*626C>A) c.605C>A (p.Ala202Glu) c.707C>A (p.Ala236Glu) c.*319C>A (n.*319C>A) c.710C>A (p.Ala237Glu) | |
| X | g.134413944C>G | CA414713042 | PHF6 | c.*626C>G (n.*626C>G) c.605C>G (p.Ala202Gly) c.707C>G (p.Ala236Gly) c.*319C>G (n.*319C>G) c.710C>G (p.Ala237Gly) | |
| X | g.134413944C>T | CA414713043 | PHF6 | c.*626C>T (n.*626C>T) c.605C>T (p.Ala202Val) c.707C>T (p.Ala236Val) c.*319C>T (n.*319C>T) c.710C>T (p.Ala237Val) | |
| X | g.134413945A>C | CA518651310 | PHF6 | c.*627A>C (n.*627A>C) c.606A>C (p.Ala202=) c.708A>C (p.Ala236=) c.*320A>C (n.*320A>C) c.711A>C (p.Ala237=) | |
| X | g.134413945A>G | CA518651308 | PHF6 | c.*627A>G (n.*627A>G) c.606A>G (p.Ala202=) c.708A>G (p.Ala236=) c.*320A>G (n.*320A>G) c.711A>G (p.Ala237=) | |
| X | g.134413945A>T | CA518651306 | PHF6 | c.*627A>T (n.*627A>T) c.606A>T (p.Ala202=) c.708A>T (p.Ala236=) c.*320A>T (n.*320A>T) c.711A>T (p.Ala237=) | |
| X | g.134413946G>A | CA414713045 | PHF6 | c.*628G>A (n.*628G>A) c.607G>A (p.Ala203Thr) c.709G>A (p.Ala237Thr) c.*321G>A (n.*321G>A) c.712G>A (p.Ala238Thr) | COSMIC |
| X | g.134413946G>C | CA414713046 | PHF6 | c.*628G>C (n.*628G>C) c.607G>C (p.Ala203Pro) c.709G>C (p.Ala237Pro) c.*321G>C (n.*321G>C) c.712G>C (p.Ala238Pro) | |
| X | g.134413946G>T | CA414713047 | PHF6 | c.*628G>T (n.*628G>T) c.607G>T (p.Ala203Ser) c.709G>T (p.Ala237Ser) c.*321G>T (n.*321G>T) c.712G>T (p.Ala238Ser) | gnomAD v4 |
| X | g.134413947C>A | CA414713048 | PHF6 | c.*629C>A (n.*629C>A) c.608C>A (p.Ala203Asp) c.710C>A (p.Ala237Asp) c.*322C>A (n.*322C>A) c.713C>A (p.Ala238Asp) | |
| X | g.134413947C>G | CA414713049 | PHF6 | c.*629C>G (n.*629C>G) c.608C>G (p.Ala203Gly) c.710C>G (p.Ala237Gly) c.*322C>G (n.*322C>G) c.713C>G (p.Ala238Gly) | |
| X | g.134413947C>T | CA414713050 | PHF6 | c.*629C>T (n.*629C>T) c.608C>T (p.Ala203Val) c.710C>T (p.Ala237Val) c.*322C>T (n.*322C>T) c.713C>T (p.Ala238Val) |