Full data view for gene PHF8

Information The variants shown are described using the NM_015107.2 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-45_-44insGA r.(=) p.(=) g.54069205_54069206insTC Copied from the Exome Variant Server PHF8_000088 1/10167 0/6465 1/3702 - - - - - - -
?/? c.-29G>T r.(=) p.(=) g.54069190C>A Copied from the Exome Variant Server PHF8_000087 1/10554 0/6722 1/3832 - - - - - - -
?/? c.-1G>A r.(=) p.(=) g.54069162C>T Copied from the Exome Variant Server PHF8_000086 6/10562 0/6728 6/3834 - - - - - - -
?/? c.98+29G>T r.(=) p.(=) g.54069035C>A Copied from the Exome Variant Server PHF8_000085 1/10558 1/6725 0/3833 - - - - - - -
?/? c.185-47G>T r.(=) p.(=) g.54048847C>A Copied from the Exome Variant Server PHF8_000084 1/10563 1/6728 0/3835 - - - - - - -
?/? c.219T>A r.(?) p.(Asp73Glu) g.54048766A>T Copied from the Exome Variant Server PHF8_000083 14/10563 12/6728 2/3835 - - - - - - -
?/? c.258G>A r.(=) p.(=) g.54048727C>T Copied from the Exome Variant Server PHF8_000082 1/10563 0/6728 1/3835 - - - - - - -
?/? c.273C>G r.(=) p.(=) g.54048712G>C Copied from the Exome Variant Server PHF8_000081 1/10563 1/6728 0/3835 - - - - - - -
?/? c.294-26C>A r.(=) p.(=) g.54044280G>T Copied from the Exome Variant Server PHF8_000080 1/10563 1/6728 0/3835 - - - - - - -
?/? c.390G>A r.(=) p.(=) g.54044158C>T Copied from the Exome Variant Server PHF8_000079 1/10563 1/6728 0/3835 - - - - - - -
?/? c.417G>A r.(=) p.(=) g.54044131C>T Copied from the Exome Variant Server PHF8_000078 1/10563 0/6728 1/3835 - - - - - - -
?/? c.441T>G r.(=) p.(=) g.54044107A>C Copied from the Exome Variant Server PHF8_000077 251/10563 232/6728 19/3835 - - - - - - -
?/? c.447C>A r.(?) p.(His149Gln) g.54044101G>T Copied from the Exome Variant Server PHF8_000076 1/10563 1/6728 0/3835 - - - - - - -
?/? c.455-31A>C r.(=) p.(=) g.54043200T>G Copied from the Exome Variant Server PHF8_000075 50/10563 48/6728 2/3835 - - - - - - -
?/? c.596+36A>G r.(=) p.(=) g.54042992T>C Copied from the Exome Variant Server PHF8_000074 49/10563 0/6728 49/3835 - - - - - - -
?/? c.596+42T>C r.(=) p.(=) g.54042986A>G Copied from the Exome Variant Server PHF8_000073 1/10563 0/6728 1/3835 - - - - - - -
?/? c.597-3T>C r.spl? p.? g.54040999A>G Copied from the Exome Variant Server PHF8_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.606C>T r.(=) p.(=) g.54040987G>A Copied from the Exome Variant Server PHF8_000071 4/10563 0/6728 4/3835 - - - - - - -
?/? c.612G>A r.(=) p.(=) g.54040981C>T Copied from the Exome Variant Server PHF8_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.691G>A r.(?) p.(Val231Ile) g.54040902C>T Copied from the Exome Variant Server PHF8_000069 1/10563 0/6728 1/3835 - - - - - - -
?/? c.783+11G>A r.(=) p.(=) g.54040799C>T Copied from the Exome Variant Server PHF8_000068 8/10563 6/6728 2/3835 - - - - - - -
?/? c.947-13T>G r.(=) p.(=) g.54029128A>C Copied from the Exome Variant Server PHF8_000067 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1034+37T>G r.(=) p.(=) g.54028991A>C Copied from the Exome Variant Server PHF8_000066 254/10563 2/6728 252/3835 - - - - - - -
?/? c.1142-43G>T r.(=) p.(=) g.54026437C>A Copied from the Exome Variant Server PHF8_000065 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1142-24C>T r.(=) p.(=) g.54026418G>A Copied from the Exome Variant Server PHF8_000064 8/10563 8/6728 0/3835 - - - - - - -
?/? c.1234-41_1234-40del r.(=) p.(=) g.54022255_54022256del Copied from the Exome Variant Server PHF8_000063 1/10205 0/6484 1/3721 - - - - - - -
?/? c.1302C>A r.(=) p.(=) g.54022147G>T Copied from the Exome Variant Server PHF8_000062 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1384C>G r.(?) p.(Pro462Ala) g.54020276G>C Copied from the Exome Variant Server PHF8_000061 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1389C>T r.(=) p.(=) g.54020271G>A Copied from the Exome Variant Server PHF8_000060 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1464T>C r.(=) p.(=) g.54020196A>G Copied from the Exome Variant Server PHF8_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1497A>G r.(=) p.(=) g.54020163T>C Copied from the Exome Variant Server PHF8_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1626+29A>G r.(=) p.(=) g.54020005T>C Copied from the Exome Variant Server PHF8_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1627-23G>A r.(=) p.(=) g.54019295C>T Copied from the Exome Variant Server PHF8_000056 3175/10562 224/6727 2951/3835 - - - - - - -
?/? c.1627-22G>C r.(=) p.(=) g.54019294C>G Copied from the Exome Variant Server PHF8_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1666G>A r.(?) p.(Asp556Asn) g.54019233C>T Copied from the Exome Variant Server PHF8_000054 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1702C>G r.(?) p.(Pro568Ala) g.54019197G>C Copied from the Exome Variant Server PHF8_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1725C>T r.(=) p.(=) g.54019174G>A Copied from the Exome Variant Server PHF8_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1730+42G>T r.(=) p.(=) g.54019127C>A Copied from the Exome Variant Server PHF8_000051 22/10562 0/6728 22/3834 - - - - - - -
?/? c.1731-25G>T r.(=) p.(=) g.54014402C>A Copied from the Exome Variant Server PHF8_000050 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1733C>T r.(?) p.(Thr578Met) g.54014375G>A Copied from the Exome Variant Server PHF8_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1734G>A r.(=) p.(=) g.54014374C>T Copied from the Exome Variant Server PHF8_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1909+27C>T r.(=) p.(=) g.54014172G>A Copied from the Exome Variant Server PHF8_000047 6/10486 0/6675 6/3811 - - - - - - -
?/? c.1909+34C>T r.(=) p.(=) g.54014165G>A Copied from the Exome Variant Server PHF8_000046 7/10427 0/6638 7/3789 - - - - - - -
?/? c.1909+35C>T r.(=) p.(=) g.54014164G>A Copied from the Exome Variant Server PHF8_000045 4/10425 1/6636 3/3789 - - - - - - -
?/? c.1910-50C>T r.(=) p.(=) g.54013646G>A Copied from the Exome Variant Server PHF8_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1917C>G r.(=) p.(=) g.54013589G>C Copied from the Exome Variant Server PHF8_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1995+12C>T r.(=) p.(=) g.54013499G>A Copied from the Exome Variant Server PHF8_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1995+39G>A r.(=) p.(=) g.54013472C>T Copied from the Exome Variant Server PHF8_000041 5/10563 4/6728 1/3835 - - - - - - -
?/? c.1996-48A>C r.(=) p.(=) g.54012430T>G Copied from the Exome Variant Server PHF8_000040 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1996-8T>C r.(=) p.(=) g.54012390A>G Copied from the Exome Variant Server PHF8_000039 81/10563 0/6728 81/3835 - - - - - - -
?/? c.2129C>T r.(?) p.(Thr710Ile) g.54012249G>A Copied from the Exome Variant Server PHF8_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2130-3C>T r.spl? p.? g.54011663G>A Copied from the Exome Variant Server PHF8_000037 2/10558 0/6725 2/3833 - - - - - - -
?/? c.2131G>A r.(?) p.(Glu711Lys) g.54011659C>T Copied from the Exome Variant Server PHF8_000036 12/10558 12/6725 0/3833 - - - - - - -
?/? c.2163C>T r.(=) p.(=) g.54011627G>A Copied from the Exome Variant Server PHF8_000035 1/10562 1/6727 0/3835 - - - - - - -
?/? c.2190C>T r.(=) p.(=) g.54011600G>A Copied from the Exome Variant Server PHF8_000034 1/10562 0/6728 1/3834 - - - - - - -
?/? c.2205G>A r.(=) p.(=) g.54011585C>T Copied from the Exome Variant Server PHF8_000033 7/10562 6/6727 1/3835 - - - - - - -
?/? c.2214G>A r.(=) p.(=) g.54011576C>T Copied from the Exome Variant Server PHF8_000032 1/10562 1/6727 0/3835 - - - - - - -
?/? c.2291C>A r.(?) p.(Thr764Lys) g.54011499G>T Copied from the Exome Variant Server PHF8_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2292A>G r.(=) p.(=) g.54011498T>C Copied from the Exome Variant Server PHF8_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2318G>A r.(?) p.(Arg773His) g.54011472C>T Copied from the Exome Variant Server PHF8_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2334G>A r.(=) p.(=) g.54011456C>T Copied from the Exome Variant Server PHF8_000028 3/10563 2/6728 1/3835 - - - - - - -
?/? c.2368A>G r.(?) p.(Ser790Gly) g.54011422T>C Copied from the Exome Variant Server PHF8_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2385_2386insGAG r.(?) p.(Glu795dup) g.54011404_54011405insCTC Copied from the Exome Variant Server PHF8_000026 1/10205 0/6484 1/3721 - - - - - - -
?/? c.2388C>A r.(?) p.(Asn796Lys) g.54011402G>T Copied from the Exome Variant Server PHF8_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2443+22G>A r.(=) p.(=) g.54011325C>T Copied from the Exome Variant Server PHF8_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2444-47C>T r.(=) p.(=) g.53989419G>A Copied from the Exome Variant Server PHF8_000023 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2444-39T>C r.(=) p.(=) g.53989411A>G Copied from the Exome Variant Server PHF8_000022 3/10563 0/6728 3/3835 - - - - - - -
?/? c.2444-24C>T r.(=) p.(=) g.53989396G>A Copied from the Exome Variant Server PHF8_000021 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2539+35G>A r.(=) p.(=) g.53989242C>T Copied from the Exome Variant Server PHF8_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2539+47G>A r.(=) p.(=) g.53989230C>T Copied from the Exome Variant Server PHF8_000019 1720/10563 629/6728 1091/3835 - - - - - - -
?/? c.2540-46C>T r.(=) p.(=) g.53970722G>A Copied from the Exome Variant Server PHF8_000018 1/10557 1/6723 0/3834 - - - - - - -
?/? c.2547G>A r.(=) p.(=) g.53970669C>T Copied from the Exome Variant Server PHF8_000017 4/10563 2/6728 2/3835 - - - - - - -
?/? c.2646G>A r.(=) p.(=) g.53970570C>T Copied from the Exome Variant Server PHF8_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2649+27T>C r.(=) p.(=) g.53970540A>G Copied from the Exome Variant Server PHF8_000015 5/10562 0/6727 5/3835 - - - - - - -
?/? c.2649+46A>T r.(=) p.(=) g.53970521T>A Copied from the Exome Variant Server PHF8_000014 54/10558 0/6725 54/3833 - - - - - - -
?/? c.2650-40T>G r.(=) p.(=) g.53966989A>C Copied from the Exome Variant Server PHF8_000013 6/10552 6/6721 0/3831 - - - - - - -
?/? c.2650-35C>G r.(=) p.(=) g.53966984G>C Copied from the Exome Variant Server PHF8_000012 1563/10556 639/6724 924/3832 - - - - - - -
?/? c.2720G>A r.(?) p.(Arg907His) g.53966879C>T Copied from the Exome Variant Server PHF8_000011 28/10563 25/6728 3/3835 - - - - - - -
?/? c.2775A>G r.(=) p.(=) g.53966824T>C Copied from the Exome Variant Server PHF8_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2788_2790del r.(?) p.(Thr930del) g.53966809_53966811del Copied from the Exome Variant Server PHF8_000009 69/10205 6/6484 63/3721 - - - - - - -
?/? c.2796_2798del r.(?) p.(Ser933del) g.53966801_53966803del Copied from the Exome Variant Server PHF8_000008 63/10205 2/6484 61/3721 - - - - - - -
?/? c.2899A>G r.(?) p.(Asn967Asp) g.53966700T>C Copied from the Exome Variant Server PHF8_000007 2/10562 2/6727 0/3835 - - - - - - -
?/? c.2935T>C r.(=) p.(=) g.53966664A>G Copied from the Exome Variant Server PHF8_000006 2/10557 0/6724 2/3833 - - - - - - -
?/? c.2940C>T r.(=) p.(=) g.53966659G>A Copied from the Exome Variant Server PHF8_000005 2/10557 1/6725 1/3832 - - - - - - -
?/? c.2986+45C>T r.(=) p.(=) g.53966568G>A Copied from the Exome Variant Server PHF8_000004 1/10207 1/6491 0/3716 - - - - - - -
?/? c.2986+48G>T r.(=) p.(=) g.53966565C>A Copied from the Exome Variant Server PHF8_000003 131/10138 124/6434 7/3704 - - - - - - -
?/? c.3062A>G r.(?) p.(Lys1021Arg) g.53965604T>C Copied from the Exome Variant Server PHF8_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*32C>T r.(=) p.(=) g.53965559G>A Copied from the Exome Variant Server PHF8_000001 1/10563 0/6728 1/3835 - - - - - - -
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