Full data view for gene LRRFIP2

Information The variants shown are described using the NM_006309.2 transcript reference sequence.

196 entries on 2 pages. Showing entries 1 - 100.
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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.36T>C r.(=) p.(=) g.37190439A>G Copied from the Exome Variant Server LRRFIP2_000196 6/13006 0/8600 6/4406 - - - - - - -
?/? c.79A>G r.(?) p.(Ile27Val) g.37190396T>C Copied from the Exome Variant Server LRRFIP2_000195 1/13006 1/8600 0/4406 - - - - - - -
?/? c.90+53A>C r.(=) p.(=) g.37190332T>G Copied from the Exome Variant Server LRRFIP2_000194 1/4566 0/3182 1/1384 - - - - - - -
?/? c.91-36T>C r.(=) p.(=) g.37170676A>G Copied from the Exome Variant Server LRRFIP2_000193 1/13006 1/8600 0/4406 - - - - - - -
?/? c.91-29A>G r.(=) p.(=) g.37170669T>C Copied from the Exome Variant Server LRRFIP2_000192 3/13006 3/8600 0/4406 - - - - - - -
?/? c.121G>T r.(?) p.(Ala41Ser) g.37170610C>A Copied from the Exome Variant Server LRRFIP2_000191 1/13006 1/8600 0/4406 - - - - - - -
?/? c.145C>T r.(?) p.(Arg49Cys) g.37170586G>A Copied from the Exome Variant Server LRRFIP2_000190 1/13006 1/8600 0/4406 - - - - - - -
?/? c.177+15T>C r.(=) p.(=) g.37170539A>G Copied from the Exome Variant Server LRRFIP2_000189 4/13006 4/8600 0/4406 - - - - - - -
?/? c.177+30A>G r.(=) p.(=) g.37170524T>C Copied from the Exome Variant Server LRRFIP2_000188 1/13006 1/8600 0/4406 - - - - - - -
?/? c.177+44A>G r.(=) p.(=) g.37170510T>C Copied from the Exome Variant Server LRRFIP2_000187 18/13006 0/8600 18/4406 - - - - - - -
?/? c.177+55T>C r.(=) p.(=) g.37170499A>G Copied from the Exome Variant Server LRRFIP2_000186 1/4566 0/3182 1/1384 - - - - - - -
?/? c.182C>G r.(?) p.(Ser61Cys) g.37169167G>C Copied from the Exome Variant Server LRRFIP2_000185 1/13006 1/8600 0/4406 - - - - - - -
?/? c.228+8A>C r.(=) p.(=) g.37169113T>G Copied from the Exome Variant Server LRRFIP2_000184 65/13006 0/8600 65/4406 - - - - - - -
?/? c.228+20C>T r.(=) p.(=) g.37169101G>A Copied from the Exome Variant Server LRRFIP2_000183 1/13006 1/8600 0/4406 - - - - - - -
?/? c.228+62G>T r.(=) p.(=) g.37169059C>A Copied from the Exome Variant Server LRRFIP2_000182 1/4566 0/3182 1/1384 - - - - - - -
?/? c.229-46C>A r.(=) p.(=) g.37163228G>T Copied from the Exome Variant Server LRRFIP2_000181 1/13006 1/8600 0/4406 - - - - - - -
?/? c.229-3C>T r.spl? p.? g.37163185G>A Copied from the Exome Variant Server LRRFIP2_000180 1/13006 1/8600 0/4406 - - - - - - -
?/? c.231A>G r.(=) p.(=) g.37163180T>C Copied from the Exome Variant Server LRRFIP2_000179 1/13006 0/8600 1/4406 - - - - - - -
?/? c.236C>T r.(?) p.(Ser79Leu) g.37163175G>A Copied from the Exome Variant Server LRRFIP2_000178 1/13006 0/8600 1/4406 - - - - - - -
?/? c.256C>T r.(?) p.(His86Tyr) g.37163155G>A Copied from the Exome Variant Server LRRFIP2_000177 3/13006 1/8600 2/4406 - - - - - - -
?/? c.259C>T r.(?) p.(Arg87Trp) g.37163152G>A Copied from the Exome Variant Server LRRFIP2_000176 6/13006 6/8600 0/4406 - - - - - - -
?/? c.285+47C>G r.(=) p.(=) g.37163079G>C Copied from the Exome Variant Server LRRFIP2_000175 11/13006 0/8600 11/4406 - - - - - - -
?/? c.286-25C>T r.(=) p.(=) g.37163052G>A Copied from the Exome Variant Server LRRFIP2_000174 6/13006 0/8600 6/4406 - - - - - - -
?/? c.286-12C>T r.(=) p.(=) g.37163039G>A Copied from the Exome Variant Server LRRFIP2_000173 12992/13006 8600/8600 4392/4406 - - - - - - -
?/? c.300A>G r.(=) p.(=) g.37163013T>C Copied from the Exome Variant Server LRRFIP2_000172 1/13006 0/8600 1/4406 - - - - - - -
?/? c.305C>G r.(?) p.(Ser102Cys) g.37163008G>C Copied from the Exome Variant Server LRRFIP2_000171 1/13006 1/8600 0/4406 - - - - - - -
?/? c.330+15T>G r.(=) p.(=) g.37162968A>C Copied from the Exome Variant Server LRRFIP2_000170 1/13006 1/8600 0/4406 - - - - - - -
?/? c.330+37A>T r.(=) p.(=) g.37162946T>A Copied from the Exome Variant Server LRRFIP2_000169 2/13006 2/8600 0/4406 - - - - - - -
?/? c.330+39G>A r.(=) p.(=) g.37162944C>T Copied from the Exome Variant Server LRRFIP2_000168 2/13006 2/8600 0/4406 - - - - - - -
?/? c.330+46C>T r.(=) p.(=) g.37162937G>A Copied from the Exome Variant Server LRRFIP2_000167 1/13006 0/8600 1/4406 - - - - - - -
?/? c.330+55A>G r.(=) p.(=) g.37162928T>C Copied from the Exome Variant Server LRRFIP2_000166 4/4566 4/3182 0/1384 - - - - - - -
?/? c.331-55_331-53del r.(=) p.(=) g.37156639_37156641del Copied from the Exome Variant Server LRRFIP2_000165 19/12502 0/8240 19/4262 - - - - - - -
?/? c.331-49A>G r.(=) p.(=) g.37156635T>C Copied from the Exome Variant Server LRRFIP2_000163 1/12992 1/8588 0/4404 - - - - - - -
?/? c.331-28C>T r.(=) p.(=) g.37156614G>A Copied from the Exome Variant Server LRRFIP2_000161 3/12996 3/8590 0/4406 - - - - - - -
?/? c.372+12A>G r.(=) p.(=) g.37156533T>C Copied from the Exome Variant Server LRRFIP2_000159 1/13000 1/8594 0/4406 - - - - - - -
?/? c.372+19T>C r.(=) p.(=) g.37156526A>G Copied from the Exome Variant Server LRRFIP2_000157 1/12996 1/8590 0/4406 - - - - - - -
?/? c.372+32G>A r.(=) p.(=) g.37156513C>T Copied from the Exome Variant Server LRRFIP2_000155 1/12990 0/8588 1/4402 - - - - - - -
?/? c.373-57del r.(=) p.(=) g.37154528del Copied from the Exome Variant Server LRRFIP2_000153 1/12506 1/8248 0/4258 - - - - - - -
?/? c.373-43C>T r.(=) p.(=) g.37154514G>A Copied from the Exome Variant Server LRRFIP2_000151 5/13004 0/8600 5/4404 - - - - - - -
?/? c.373-39A>G r.(=) p.(=) g.37154510T>C Copied from the Exome Variant Server LRRFIP2_000149 1/13006 0/8600 1/4406 - - - - - - -
?/? c.373-17G>A r.(=) p.(=) g.37154488C>T Copied from the Exome Variant Server LRRFIP2_000147 1/13004 0/8598 1/4406 - - - - - - -
?/? c.378T>G r.(?) p.(His126Gln) g.37154466A>C Copied from the Exome Variant Server LRRFIP2_000145 1/13006 0/8600 1/4406 - - - - - - -
?/? c.405G>A r.(=) p.(=) g.37154439C>T Copied from the Exome Variant Server LRRFIP2_000164 1/13006 1/8600 0/4406 - - - - - - -
?/? c.427A>G r.(?) p.(Lys143Glu) g.37154417T>C Copied from the Exome Variant Server LRRFIP2_000162 192/13006 2/8600 190/4406 - - - - - - -
?/? c.433C>T r.(=) p.(=) g.37154411G>A Copied from the Exome Variant Server LRRFIP2_000160 1/13006 1/8600 0/4406 - - - - - - -
?/? c.436C>G r.(?) p.(Leu146Val) g.37154408G>C Copied from the Exome Variant Server LRRFIP2_000158 1/13006 0/8600 1/4406 - - - - - - -
?/? c.446T>C r.(?) p.(Leu149Pro) g.37152549A>G Copied from the Exome Variant Server LRRFIP2_000156 1/13006 1/8600 0/4406 - - - - - - -
?/? c.476T>C r.(?) p.(Leu159Pro) g.37152519A>G Copied from the Exome Variant Server LRRFIP2_000154 3/13006 0/8600 3/4406 - - - - - - -
?/? c.511C>T r.(?) p.(Arg171Trp) g.37152484G>A Copied from the Exome Variant Server LRRFIP2_000152 2/13006 2/8600 0/4406 - - - - - - -
?/? c.513+25_513+26del r.(=) p.(=) g.37152456_37152457del Copied from the Exome Variant Server LRRFIP2_000150 30/12520 22/8254 8/4266 - - - - - - -
?/? c.513+28T>C r.(=) p.(=) g.37152454A>G Copied from the Exome Variant Server LRRFIP2_000148 98/13006 1/8600 97/4406 - - - - - - -
?/? c.513+44A>C r.(=) p.(=) g.37152438T>G Copied from the Exome Variant Server LRRFIP2_000146 195/13006 168/8600 27/4406 - - - - - - -
?/? c.513+55A>G r.(=) p.(=) g.37152427T>C Copied from the Exome Variant Server LRRFIP2_000144 17/4566 11/3182 6/1384 - - - - - - -
?/? c.514-12_514-10del r.(=) p.(=) g.37151204_37151206del Copied from the Exome Variant Server LRRFIP2_000143 1/12520 1/8254 0/4266 - - - - - - -
?/? c.514-7C>T r.(=) p.(=) g.37151201G>A Copied from the Exome Variant Server LRRFIP2_000142 1/13006 1/8600 0/4406 - - - - - - -
?/? c.529T>A r.(?) p.(Tyr177Asn) g.37151179A>T Copied from the Exome Variant Server LRRFIP2_000141 1/13006 1/8600 0/4406 - - - - - - -
?/? c.551A>G r.(?) p.(Tyr184Cys) g.37151157T>C Copied from the Exome Variant Server LRRFIP2_000140 291/13006 267/8600 24/4406 - - - - - - -
?/? c.575C>T r.(?) p.(Thr192Ile) g.37151052G>A Copied from the Exome Variant Server LRRFIP2_000139 10/13006 2/8600 8/4406 - - - - - - -
?/? c.605G>A r.(?) p.(Ser202Asn) g.37151022C>T Copied from the Exome Variant Server LRRFIP2_000138 1/13006 1/8600 0/4406 - - - - - - -
?/? c.608T>C r.(?) p.(Leu203Pro) g.37151019A>G Copied from the Exome Variant Server LRRFIP2_000137 1/13006 0/8600 1/4406 - - - - - - -
?/? c.609+20A>T r.(=) p.(=) g.37150998T>A Copied from the Exome Variant Server LRRFIP2_000136 79/13006 0/8600 79/4406 - - - - - - -
?/? c.609+30G>C r.(=) p.(=) g.37150988C>G Copied from the Exome Variant Server LRRFIP2_000135 7392/13006 4531/8600 2861/4406 - - - - - - -
?/? c.609+55G>A r.(=) p.(=) g.37150963C>T Copied from the Exome Variant Server LRRFIP2_000134 1/4566 0/3182 1/1384 - - - - - - -
?/? c.610-25_610-24insGCTA r.(=) p.(=) g.37150199_37150200insTAGC Copied from the Exome Variant Server LRRFIP2_000133 1/12520 1/8254 0/4266 - - - - - - -
?/? c.610-20A>G r.(=) p.(=) g.37150195T>C Copied from the Exome Variant Server LRRFIP2_000132 1/13006 1/8600 0/4406 - - - - - - -
?/? c.616T>C r.(=) p.(=) g.37150169A>G Copied from the Exome Variant Server LRRFIP2_000131 2/13006 2/8600 0/4406 - - - - - - -
?/? c.623A>G r.(?) p.(Asn208Ser) g.37150162T>C Copied from the Exome Variant Server LRRFIP2_000130 2/13006 0/8600 2/4406 - - - - - - -
?/? c.652C>T r.(?) p.(Arg218*) g.37150133G>A Copied from the Exome Variant Server LRRFIP2_000129 3/13006 1/8600 2/4406 - - - - - - -
?/? c.657+5G>A r.spl? p.? g.37150123C>T Copied from the Exome Variant Server LRRFIP2_000128 1/13006 1/8600 0/4406 - - - - - - -
?/? c.657+47G>A r.(=) p.(=) g.37150081C>T Copied from the Exome Variant Server LRRFIP2_000127 33/13006 28/8600 5/4406 - - - - - - -
?/? c.658-59C>G r.(=) p.(=) g.37149679G>C Copied from the Exome Variant Server LRRFIP2_000126 1/4566 1/3182 0/1384 - - - - - - -
?/? c.658-43G>A r.(=) p.(=) g.37149663C>T Copied from the Exome Variant Server LRRFIP2_000125 1/13006 0/8600 1/4406 - - - - - - -
?/? c.660A>T r.(=) p.(=) g.37149618T>A Copied from the Exome Variant Server LRRFIP2_000124 111/13006 1/8600 110/4406 - - - - - - -
?/? c.712G>A r.(?) p.(Gly238Arg) g.37149566C>T Copied from the Exome Variant Server LRRFIP2_000123 1/13006 1/8600 0/4406 - - - - - - -
?/? c.714+17C>T r.(=) p.(=) g.37149547G>A Copied from the Exome Variant Server LRRFIP2_000122 1/13006 1/8600 0/4406 - - - - - - -
?/? c.715-55G>A r.(=) p.(=) g.37147069C>T Copied from the Exome Variant Server LRRFIP2_000121 231/4566 69/3182 162/1384 - - - - - - -
?/? c.715-8A>G r.(=) p.(=) g.37147022T>C Copied from the Exome Variant Server LRRFIP2_000120 35/13006 31/8600 4/4406 - - - - - - -
?/? c.769C>T r.(?) p.(Arg257*) g.37146960G>A Copied from the Exome Variant Server LRRFIP2_000119 2/13006 0/8600 2/4406 - - - - - - -
?/? c.771A>G r.(=) p.(=) g.37146958T>C Copied from the Exome Variant Server LRRFIP2_000118 1/13006 1/8600 0/4406 - - - - - - -
?/? c.773G>A r.(?) p.(Arg258Lys) g.37146956C>T Copied from the Exome Variant Server LRRFIP2_000117 1/13006 0/8600 1/4406 - - - - - - -
?/? c.774G>T r.(?) p.(Arg258Ser) g.37146955C>A Copied from the Exome Variant Server LRRFIP2_000116 2/13006 2/8600 0/4406 - - - - - - -
?/? c.783+38T>C r.(=) p.(=) g.37146908A>G Copied from the Exome Variant Server LRRFIP2_000115 1/13006 1/8600 0/4406 - - - - - - -
?/? c.784-31G>T r.(=) p.(=) g.37144535C>A Copied from the Exome Variant Server LRRFIP2_000114 6045/12830 4061/8492 1984/4338 - - - - - - -
?/? c.784-1G>T r.spl? p.? g.37144505C>A Copied from the Exome Variant Server LRRFIP2_000113 1/12968 1/8576 0/4392 - - - - - - -
?/? c.792C>T r.(=) p.(=) g.37144496G>A Copied from the Exome Variant Server LRRFIP2_000112 2/12978 1/8582 1/4396 - - - - - - -
?/? c.800A>T r.(?) p.(Tyr267Phe) g.37144488T>A Copied from the Exome Variant Server LRRFIP2_000109 1/12992 0/8594 1/4398 - - - - - - -
?/? c.808C>T r.(?) p.(Arg270Cys) g.37144480G>A Copied from the Exome Variant Server LRRFIP2_000107 12/12990 0/8592 12/4398 - - - - - - -
?/? c.809G>A r.(?) p.(Arg270His) g.37144479C>T Copied from the Exome Variant Server LRRFIP2_000105 1/12990 1/8592 0/4398 - - - - - - -
?/? c.818G>A r.(?) p.(Arg273His) g.37144470C>T Copied from the Exome Variant Server LRRFIP2_000103 1/12994 1/8594 0/4400 - - - - - - -
?/? c.832G>A r.(?) p.(Val278Ile) g.37144456C>T Copied from the Exome Variant Server LRRFIP2_000101 1/12990 1/8592 0/4398 - - - - - - -
?/? c.860C>T r.(?) p.(Pro287Leu) g.37144428G>A Copied from the Exome Variant Server LRRFIP2_000099 1/12980 1/8582 0/4398 - - - - - - -
?/? c.866T>C r.(?) p.(Leu289Ser) g.37144422A>G Copied from the Exome Variant Server LRRFIP2_000097 78/12978 1/8578 77/4400 - - - - - - -
?/? c.869C>T r.(?) p.(Ser290Phe) g.37144419G>A Copied from the Exome Variant Server LRRFIP2_000111 1/12970 1/8572 0/4398 - - - - - - -
?/? c.873C>A r.(?) p.(Ser291Arg) g.37144415G>T Copied from the Exome Variant Server LRRFIP2_000110 132/12962 2/8566 130/4396 - - - - - - -
?/? c.873+1G>A r.spl? p.? g.37144414C>T Copied from the Exome Variant Server LRRFIP2_000108 1/12958 1/8562 0/4396 - - - - - - -
?/? c.873+10T>C r.(=) p.(=) g.37144405A>G Copied from the Exome Variant Server LRRFIP2_000106 1/12950 1/8554 0/4396 - - - - - - -
?/? c.874-49G>C r.(=) p.(=) g.37138200C>G Copied from the Exome Variant Server LRRFIP2_000104 1/12982 1/8586 0/4396 - - - - - - -
?/? c.874-44C>T r.(=) p.(=) g.37138195G>A Copied from the Exome Variant Server LRRFIP2_000102 1/12990 0/8590 1/4400 - - - - - - -
?/? c.874-18A>T r.(=) p.(=) g.37138169T>A Copied from the Exome Variant Server LRRFIP2_000100 1/12990 0/8594 1/4396 - - - - - - -
?/? c.874-6T>C r.(=) p.(=) g.37138157A>G Copied from the Exome Variant Server LRRFIP2_000098 7/12994 3/8596 4/4398 - - - - - - -
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