Full data view for gene FANCF

Information The variants shown are described using the NM_022725.3 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.-31T>C r.(=) p.(=) g.22647387A>G Copied from the Exome Variant Server FANCF_000058 5/13004 0/8598 5/4406 - - - - - - -
?/? c.-10C>T r.(=) p.(=) g.22647366G>A Copied from the Exome Variant Server FANCF_000057 1907/13006 1628/8600 279/4406 - - - - - - -
?/? c.48G>T r.(=) p.(=) g.22647309C>A Copied from the Exome Variant Server FANCF_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.63C>G r.(=) p.(=) g.22647294G>C Copied from the Exome Variant Server FANCF_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.83C>T r.(?) p.(Pro28Leu) g.22647274G>A Copied from the Exome Variant Server FANCF_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.89C>G r.(?) p.(Thr30Ser) g.22647268G>C Copied from the Exome Variant Server FANCF_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.91G>A r.(?) p.(Val31Met) g.22647266C>T Copied from the Exome Variant Server FANCF_000052 2/13006 0/8600 2/4406 - - - - - - -
?/? c.96C>T r.(=) p.(=) g.22647261G>A Copied from the Exome Variant Server FANCF_000051 12/13002 4/8600 8/4402 - - - - - - -
?/? c.123G>A r.(=) p.(=) g.22647234C>T Copied from the Exome Variant Server FANCF_000050 1/13000 1/8596 0/4404 - - - - - - -
?/? c.149G>C r.(?) p.(Arg50Pro) g.22647208C>G Copied from the Exome Variant Server FANCF_000049 2/13002 2/8596 0/4406 - - - - - - -
?/? c.153T>A r.(?) p.(His51Gln) g.22647204A>T Copied from the Exome Variant Server FANCF_000048 5/13002 0/8596 5/4406 - - - - - - -
?/? c.165C>T r.(=) p.(=) g.22647192G>A Copied from the Exome Variant Server FANCF_000047 1/13000 0/8596 1/4404 - - - - - - -
?/? c.199A>C r.(=) p.(=) g.22647158T>G Copied from the Exome Variant Server FANCF_000046 39/12980 0/8584 39/4396 - - - - - - -
?/? c.234G>A r.(=) p.(=) g.22647123C>T Copied from the Exome Variant Server FANCF_000045 2/13006 2/8600 0/4406 - - - - - - -
?/? c.241G>T r.(?) p.(Ala81Ser) g.22647116C>A Copied from the Exome Variant Server FANCF_000044 3/13006 3/8600 0/4406 - - - - - - -
?/? c.246C>T r.(=) p.(=) g.22647111G>A Copied from the Exome Variant Server FANCF_000043 22/13006 0/8600 22/4406 - - - - - - -
?/? c.258C>T r.(=) p.(=) g.22647099G>A Copied from the Exome Variant Server FANCF_000042 1/13004 0/8598 1/4406 - - - - - - -
?/? c.268G>A r.(?) p.(Asp90Asn) g.22647089C>T Copied from the Exome Variant Server FANCF_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.278T>C r.(?) p.(Leu93Pro) g.22647079A>G Copied from the Exome Variant Server FANCF_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.332T>C r.(?) p.(Leu111Pro) g.22647025A>G Copied from the Exome Variant Server FANCF_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.350C>T r.(?) p.(Pro117Leu) g.22647007G>A Copied from the Exome Variant Server FANCF_000038 4/13002 4/8598 0/4404 - - - - - - -
?/? c.351C>T r.(=) p.(=) g.22647006G>A Copied from the Exome Variant Server FANCF_000037 1/13002 1/8598 0/4404 - - - - - - -
?/? c.373G>A r.(?) p.(Asp125Asn) g.22646984C>T Copied from the Exome Variant Server FANCF_000036 96/12988 88/8588 8/4400 - - - - - - -
?/? c.385C>G r.(?) p.(Leu129Val) g.22646972G>C Copied from the Exome Variant Server FANCF_000034 2/12986 2/8588 0/4398 - - - - - - -
?/? c.387C>T r.(=) p.(=) g.22646970G>A Copied from the Exome Variant Server FANCF_000032 92/12982 85/8584 7/4398 - - - - - - -
?/? c.415C>G r.(?) p.(Arg139Gly) g.22646942G>C Copied from the Exome Variant Server FANCF_000030 1/12986 0/8590 1/4396 - - - - - - -
?/? c.446A>G r.(?) p.(Asn149Ser) g.22646911T>C Copied from the Exome Variant Server FANCF_000028 1/13002 1/8598 0/4404 - - - - - - -
?/? c.465A>T r.(=) p.(=) g.22646892T>A Copied from the Exome Variant Server FANCF_000026 2/13002 2/8598 0/4404 - - - - - - -
?/? c.466A>G r.(?) p.(Asn156Asp) g.22646891T>C Copied from the Exome Variant Server FANCF_000024 1/13000 1/8598 0/4402 - - - - - - -
?/? c.484_485del r.(?) p.(Leu162Aspfs*103) g.22646872_22646873del Copied from the Exome Variant Server FANCF_000022 8/12504 8/8250 0/4254 - - - - - - -
?/? c.557C>T r.(?) p.(Ala186Val) g.22646800G>A Copied from the Exome Variant Server FANCF_000020 74/13006 72/8600 2/4406 - - - - - - -
?/? c.573C>G r.(?) p.(Ser191Arg) g.22646784G>C Copied from the Exome Variant Server FANCF_000018 5/13006 0/8600 5/4406 - - - - - - -
?/? c.600C>A r.(?) p.(Asn200Lys) g.22646757G>T Copied from the Exome Variant Server FANCF_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.612G>C r.(=) p.(=) g.22646745C>G Copied from the Exome Variant Server FANCF_000035 1/13004 0/8598 1/4406 - - - - - - -
?/? c.624G>T r.(=) p.(=) g.22646733C>A Copied from the Exome Variant Server FANCF_000033 153/13004 2/8598 151/4406 - - - - - - -
?/? c.633G>T r.(?) p.(Gln211His) g.22646724C>A Copied from the Exome Variant Server FANCF_000031 7/13006 6/8600 1/4406 - - - - - - -
?/? c.672C>T r.(=) p.(=) g.22646685G>A Copied from the Exome Variant Server FANCF_000029 10/13006 0/8600 10/4406 - - - - - - -
?/? c.701G>A r.(?) p.(Ser234Asn) g.22646656C>T Copied from the Exome Variant Server FANCF_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.728G>A r.(?) p.(Gly243Glu) g.22646629C>T Copied from the Exome Variant Server FANCF_000025 8/13006 0/8600 8/4406 - - - - - - -
?/? c.771C>T r.(=) p.(=) g.22646586G>A Copied from the Exome Variant Server FANCF_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.786A>G r.(=) p.(=) g.22646571T>C Copied from the Exome Variant Server FANCF_000021 8/13006 0/8600 8/4406 - - - - - - -
?/? c.796C>T r.(?) p.(Arg266Cys) g.22646561G>A Copied from the Exome Variant Server FANCF_000019 2/13006 0/8600 2/4406 - - - - - - -
?/? c.821A>C r.(?) p.(Tyr274Ser) g.22646536T>G Copied from the Exome Variant Server FANCF_000017 2/13006 0/8600 2/4406 - - - - - - -
?/? c.825G>A r.(=) p.(=) g.22646532C>T Copied from the Exome Variant Server FANCF_000015 217/13006 200/8600 17/4406 - - - - - - -
?/? c.837A>G r.(=) p.(=) g.22646520T>C Copied from the Exome Variant Server FANCF_000014 2/13006 0/8600 2/4406 - - - - - - -
?/? c.849A>G r.(=) p.(=) g.22646508T>C Copied from the Exome Variant Server FANCF_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.857A>C r.(?) p.(His286Pro) g.22646500T>G Copied from the Exome Variant Server FANCF_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.868C>A r.(?) p.(Gln290Lys) g.22646489G>T Copied from the Exome Variant Server FANCF_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.883G>A r.(?) p.(Val295Ile) g.22646474C>T Copied from the Exome Variant Server FANCF_000010 59/13006 0/8600 59/4406 - - - - - - -
?/? c.911G>C r.(?) p.(Trp304Ser) g.22646446C>G Copied from the Exome Variant Server FANCF_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.925A>G r.(?) p.(Asn309Asp) g.22646432T>C Copied from the Exome Variant Server FANCF_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.936A>T r.(?) p.(Gln312His) g.22646421T>A Copied from the Exome Variant Server FANCF_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.947A>G r.(?) p.(Gln316Arg) g.22646410T>C Copied from the Exome Variant Server FANCF_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.959C>T r.(?) p.(Pro320Leu) g.22646398G>A Copied from the Exome Variant Server FANCF_000005 171/13006 156/8600 15/4406 - - - - - - -
?/? c.1012G>A r.(?) p.(Asp338Asn) g.22646345C>T Copied from the Exome Variant Server FANCF_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1048C>T r.(?) p.(Leu350Phe) g.22646309G>A Copied from the Exome Variant Server FANCF_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1087C>T r.(?) p.(Gln363*) g.22646270G>A Copied from the Exome Variant Server FANCF_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1087_1088del r.(?) p.(Gln363Serfs*54) g.22646269_22646270del Copied from the Exome Variant Server FANCF_000001 1/12518 1/8254 0/4264 - - - - - - -
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