Unique variants in gene PHF6

Information The variants shown are described using the NM_032458.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.34A>G r.(?) p.(Thr12Ala) g.133511681A>G Copied from the Exome Variant Server PHF6_000001 1/10563 1/6728 0/3835
1 c.47A>G r.(?) p.(Lys16Arg) g.133511694A>G Copied from the Exome Variant Server PHF6_000002 1/10563 1/6728 0/3835
1 c.61A>G r.(?) p.(Lys21Glu) g.133511708A>G Copied from the Exome Variant Server PHF6_000003 1/10563 0/6728 1/3835
1 c.84T>C r.(=) p.(=) g.133511731T>C Copied from the Exome Variant Server PHF6_000004 1/10563 1/6728 0/3835
1 c.138+11C>T r.(=) p.(=) g.133511796C>T Copied from the Exome Variant Server PHF6_000005 2/10563 0/6728 2/3835
1 c.139-47G>A r.(=) p.(=) g.133511988G>A Copied from the Exome Variant Server PHF6_000006 7483/10040 4830/6493 2653/3547
1 c.139-14_139-10del r.(=) p.(=) g.133512021_133512025del Copied from the Exome Variant Server PHF6_000007 37/10070 12/6415 25/3655
1 c.147A>G r.(=) p.(=) g.133512043A>G Copied from the Exome Variant Server PHF6_000008 1/10558 1/6723 0/3835
1 c.176A>G r.(?) p.(Asn59Ser) g.133512072A>G Copied from the Exome Variant Server PHF6_000009 1/10560 1/6725 0/3835
1 c.241-20A>G r.(=) p.(=) g.133527511A>G Copied from the Exome Variant Server PHF6_000010 1/10563 0/6728 1/3835
1 c.241-13C>T r.(=) p.(=) g.133527518C>T Copied from the Exome Variant Server PHF6_000011 2/10563 2/6728 0/3835
1 c.241-3T>C r.spl? p.? g.133527528T>C Copied from the Exome Variant Server PHF6_000012 2/10563 2/6728 0/3835
1 c.374+8T>C r.(=) p.(=) g.133527672T>C Copied from the Exome Variant Server PHF6_000013 4/10563 4/6728 0/3835
1 c.374+19del r.(=) p.(=) g.133527683del Copied from the Exome Variant Server PHF6_000014 3/10203 3/6484 0/3719
1 c.374+25del r.(=) p.(=) g.133527689del Copied from the Exome Variant Server PHF6_000016 224/10155 139/6460 85/3695
1 c.374+25dup r.(=) p.(=) g.133527689dup Copied from the Exome Variant Server PHF6_000015 99/10155 55/6460 44/3695
1 c.374+43_374+46del r.(=) p.(=) g.133527707_133527710del Copied from the Exome Variant Server PHF6_000017 292/10089 273/6434 19/3655
1 c.487C>T r.(?) p.(Arg163Cys) g.133547589C>T Copied from the Exome Variant Server PHF6_000018 1/10561 1/6728 0/3833
1 c.497G>A r.(?) p.(Arg166Lys) g.133547599G>A Copied from the Exome Variant Server PHF6_000020 1/10563 1/6728 0/3835
1 c.528A>G r.(=) p.(=) g.133547630A>G Copied from the Exome Variant Server PHF6_000022 1/10563 1/6728 0/3835
1 c.586-39T>C r.(=) p.(=) g.133547814T>C Copied from the Exome Variant Server PHF6_000024 17/10562 17/6727 0/3835
1 c.729+4A>G r.spl? p.? g.133548000A>G Copied from the Exome Variant Server PHF6_000026 106/10563 1/6728 105/3835
1 c.729+47T>G r.(=) p.(=) g.133548043T>G Copied from the Exome Variant Server PHF6_000028 3/10558 0/6724 3/3834
1 c.730-50_730-47del r.(=) p.(=) g.133548996_133548999del Copied from the Exome Variant Server PHF6_000030 8/10140 6/6451 2/3689
1 c.730-11T>G r.(=) p.(=) g.133549035T>G Copied from the Exome Variant Server PHF6_000032 49/10551 0/6719 49/3832
1 c.835-36A>C r.(=) p.(=) g.133551163A>C Copied from the Exome Variant Server PHF6_000019 1/10561 0/6726 1/3835
1 c.835-31G>C r.(=) p.(=) g.133551168G>C Copied from the Exome Variant Server PHF6_000021 1/10561 1/6726 0/3835
1 c.835-25C>T r.(=) p.(=) g.133551174C>T Copied from the Exome Variant Server PHF6_000023 2/10561 0/6726 2/3835
1 c.835-24G>A r.(=) p.(=) g.133551175G>A Copied from the Exome Variant Server PHF6_000025 1/10561 1/6726 0/3835
1 c.927C>T r.(=) p.(=) g.133551291C>T Copied from the Exome Variant Server PHF6_000027 123/10563 3/6728 120/3835
1 c.968+34A>G r.(=) p.(=) g.133551366A>G Copied from the Exome Variant Server PHF6_000029 1/10560 0/6727 1/3833
1 c.968+45C>T r.(=) p.(=) g.133551377C>T Copied from the Exome Variant Server PHF6_000031 7/10559 6/6727 1/3832
1 c.969-35A>G r.(=) p.(=) g.133559196A>G Copied from the Exome Variant Server PHF6_000033 2/10563 1/6728 1/3835
1 c.*49T>A r.(=) p.(=) g.133559409T>A Copied from the Exome Variant Server PHF6_000034 1/10563 0/6728 1/3835
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