Full data view for gene C1QTNF2

Information The variants shown are described using the NM_031908.4 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.16C>T r.(=) p.(=) g.159797629G>A Copied from the Exome Variant Server C1QTNF2_000058 4/11840 0/8130 4/3710 - - - - - - -
?/? c.73_74insCC r.(?) p.(Arg25Profs*20) g.159797571_159797572insGG Copied from the Exome Variant Server C1QTNF2_000056 119/8688 86/6166 33/2522 - - - - - - -
?/? c.126+31_126+32insG r.(=) p.(=) g.159797487_159797488insC Copied from the Exome Variant Server C1QTNF2_000054 18/8436 4/5910 14/2526 - - - - - - -
?/? c.153C>G r.(=) p.(=) g.159782001G>C Copied from the Exome Variant Server C1QTNF2_000052 1/13004 1/8600 0/4404 - - - - - - -
?/? c.187C>T r.(=) p.(=) g.159781967G>A Copied from the Exome Variant Server C1QTNF2_000050 1/13004 1/8600 0/4404 - - - - - - -
?/? c.195C>T r.(=) p.(=) g.159781959G>A Copied from the Exome Variant Server C1QTNF2_000048 8/13002 6/8600 2/4402 - - - - - - -
?/? c.196G>A r.(?) p.(Ala66Thr) g.159781958C>T Copied from the Exome Variant Server C1QTNF2_000057 1/13002 1/8600 0/4402 - - - - - - -
?/? c.206G>T r.(?) p.(Arg69Leu) g.159781948C>A Copied from the Exome Variant Server C1QTNF2_000055 1/13000 1/8600 0/4400 - - - - - - -
?/? c.207C>G r.(=) p.(=) g.159781947G>C Copied from the Exome Variant Server C1QTNF2_000053 8/13000 8/8600 0/4400 - - - - - - -
?/? c.218G>A r.(?) p.(Arg73Gln) g.159781936C>T Copied from the Exome Variant Server C1QTNF2_000051 1/13000 1/8598 0/4402 - - - - - - -
?/? c.228C>G r.(=) p.(=) g.159781926G>C Copied from the Exome Variant Server C1QTNF2_000049 1/13002 1/8598 0/4404 - - - - - - -
?/? c.255C>A r.(=) p.(=) g.159781899G>T Copied from the Exome Variant Server C1QTNF2_000047 1/12996 1/8596 0/4400 - - - - - - -
?/? c.270C>T r.(=) p.(=) g.159781884G>A Copied from the Exome Variant Server C1QTNF2_000046 1/12978 1/8592 0/4386 - - - - - - -
?/? c.283G>T r.(?) p.(Ala95Ser) g.159781871C>A Copied from the Exome Variant Server C1QTNF2_000045 1/12972 1/8584 0/4388 - - - - - - -
?/? c.310C>T r.(?) p.(Arg104*) g.159781844G>A Copied from the Exome Variant Server C1QTNF2_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.333C>T r.(=) p.(=) g.159781821G>A Copied from the Exome Variant Server C1QTNF2_000043 12/13006 1/8600 11/4406 - - - - - - -
?/? c.354C>T r.(=) p.(=) g.159781800G>A Copied from the Exome Variant Server C1QTNF2_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.355G>A r.(?) p.(Asp119Asn) g.159781799C>T Copied from the Exome Variant Server C1QTNF2_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.358C>T r.(?) p.(Arg120Trp) g.159781796G>A Copied from the Exome Variant Server C1QTNF2_000040 30/13006 0/8600 30/4406 - - - - - - -
?/? c.379+10del r.(=) p.(=) g.159781765del Copied from the Exome Variant Server C1QTNF2_000039 14/12518 4/8254 10/4264 - - - - - - -
?/? c.379+15C>T r.(=) p.(=) g.159781760G>A Copied from the Exome Variant Server C1QTNF2_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.379+22C>T r.(=) p.(=) g.159781753G>A Copied from the Exome Variant Server C1QTNF2_000037 1/13004 0/8598 1/4406 - - - - - - -
?/? c.379+25T>G r.(=) p.(=) g.159781750A>C Copied from the Exome Variant Server C1QTNF2_000036 3/13006 3/8600 0/4406 - - - - - - -
?/? c.379+47A>G r.(=) p.(=) g.159781728T>C Copied from the Exome Variant Server C1QTNF2_000035 5/13004 0/8600 5/4404 - - - - - - -
?/? c.379+51G>A r.(=) p.(=) g.159781724C>T Copied from the Exome Variant Server C1QTNF2_000034 784/13006 695/8600 89/4406 - - - - - - -
?/? c.379+52G>T r.(=) p.(=) g.159781723C>A Copied from the Exome Variant Server C1QTNF2_000033 7/5734 5/3982 2/1752 - - - - - - -
?/? c.403C>T r.(?) p.(Arg135Trp) g.159776765G>A Copied from the Exome Variant Server C1QTNF2_000032 2/12936 1/8574 1/4362 - - - - - - -
?/? c.404G>A r.(?) p.(Arg135Gln) g.159776764C>T Copied from the Exome Variant Server C1QTNF2_000031 3/12956 1/8578 2/4378 - - - - - - -
?/? c.415G>A r.(?) p.(Gly139Arg) g.159776753C>T Copied from the Exome Variant Server C1QTNF2_000030 1/12982 0/8588 1/4394 - - - - - - -
?/? c.438C>T r.(=) p.(=) g.159776730G>A Copied from the Exome Variant Server C1QTNF2_000029 1/12994 1/8596 0/4398 - - - - - - -
?/? c.472G>T r.(?) p.(Val158Phe) g.159776696C>A Copied from the Exome Variant Server C1QTNF2_000028 1/13000 1/8596 0/4404 - - - - - - -
?/? c.486C>T r.(=) p.(=) g.159776682G>A Copied from the Exome Variant Server C1QTNF2_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.500C>T r.(?) p.(Thr167Ile) g.159776668G>A Copied from the Exome Variant Server C1QTNF2_000026 2/13006 1/8600 1/4406 - - - - - - -
?/? c.502C>T r.(?) p.(Pro168Ser) g.159776666G>A Copied from the Exome Variant Server C1QTNF2_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.524G>T r.(?) p.(Gly175Val) g.159776644C>A Copied from the Exome Variant Server C1QTNF2_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.531G>A r.(=) p.(=) g.159776637C>T Copied from the Exome Variant Server C1QTNF2_000023 5115/13006 4016/8600 1099/4406 - - - - - - -
?/? c.594G>A r.(=) p.(=) g.159776574C>T Copied from the Exome Variant Server C1QTNF2_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.661G>A r.(?) p.(Glu221Lys) g.159776507C>T Copied from the Exome Variant Server C1QTNF2_000021 6/13006 4/8600 2/4406 - - - - - - -
?/? c.689G>T r.(?) p.(Gly230Val) g.159776479C>A Copied from the Exome Variant Server C1QTNF2_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.702C>T r.(=) p.(=) g.159776466G>A Copied from the Exome Variant Server C1QTNF2_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.773T>G r.(?) p.(Val258Gly) g.159776395A>C Copied from the Exome Variant Server C1QTNF2_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.791G>A r.(?) p.(Arg264His) g.159776377C>T Copied from the Exome Variant Server C1QTNF2_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.807T>C r.(=) p.(=) g.159776361A>G Copied from the Exome Variant Server C1QTNF2_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.816C>T r.(=) p.(=) g.159776352G>A Copied from the Exome Variant Server C1QTNF2_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.825C>T r.(=) p.(=) g.159776343G>A Copied from the Exome Variant Server C1QTNF2_000014 7/13006 0/8600 7/4406 - - - - - - -
?/? c.829G>A r.(?) p.(Val277Met) g.159776339C>T Copied from the Exome Variant Server C1QTNF2_000013 2/13006 2/8600 0/4406 - - - - - - -
?/? c.839G>C r.(?) p.(Gly280Ala) g.159776329C>G Copied from the Exome Variant Server C1QTNF2_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.857T>C r.(?) p.(Leu286Pro) g.159776311A>G Copied from the Exome Variant Server C1QTNF2_000011 4/13006 4/8600 0/4406 - - - - - - -
?/? c.865G>C r.(?) p.(Gly289Arg) g.159776303C>G Copied from the Exome Variant Server C1QTNF2_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.870C>T r.(=) p.(=) g.159776298G>A Copied from the Exome Variant Server C1QTNF2_000009 2/13006 2/8600 0/4406 - - - - - - -
?/? c.871G>A r.(?) p.(Glu291Lys) g.159776297C>T Copied from the Exome Variant Server C1QTNF2_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.948G>A r.(=) p.(=) g.159776220C>T Copied from the Exome Variant Server C1QTNF2_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.967G>A r.(?) p.(Asp323Asn) g.159776201C>T Copied from the Exome Variant Server C1QTNF2_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*9C>T r.(=) p.(=) g.159776166G>A Copied from the Exome Variant Server C1QTNF2_000005 3/13004 3/8598 0/4406 - - - - - - -
?/? c.*10G>A r.(=) p.(=) g.159776165C>T Copied from the Exome Variant Server C1QTNF2_000004 1/13004 0/8598 1/4406 - - - - - - -
?/? c.*12C>T r.(=) p.(=) g.159776163G>A Copied from the Exome Variant Server C1QTNF2_000003 1/13004 0/8598 1/4406 - - - - - - -
?/? c.*13G>A r.(=) p.(=) g.159776162C>T Copied from the Exome Variant Server C1QTNF2_000002 2/13002 1/8598 1/4404 - - - - - - -
?/? c.*23G>A r.(=) p.(=) g.159776152C>T Copied from the Exome Variant Server C1QTNF2_000001 2/13006 0/8600 2/4406 - - - - - - -
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