Full data view for gene FKBP6

Information The variants shown are described using the NM_003602.3 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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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.7G>T r.(?) p.(Gly3*) g.72742438G>T Copied from the Exome Variant Server FKBP6_000001 1/10220 1/6864 0/3356 - - - - - - -
?/? c.58-32G>A r.(=) p.(=) g.72742546G>A Copied from the Exome Variant Server FKBP6_000002 40/8994 39/6136 1/2858 - - - - - - -
?/? c.70C>T r.(?) p.(Arg24Trp) g.72742590C>T Copied from the Exome Variant Server FKBP6_000003 12/9748 12/6724 0/3024 - - - - - - -
?/? c.107G>A r.(?) p.(Arg36Gln) g.72742627G>A Copied from the Exome Variant Server FKBP6_000004 9/12042 9/8102 0/3940 - - - - - - -
?/? c.148_149insT r.(?) p.(Val51Serfs*4) g.72742668_72742669insT Copied from the Exome Variant Server FKBP6_000006 1/12388 0/8178 1/4210 - - - - - - -
?/? c.175+8C>T r.(=) p.(=) g.72742703C>T Copied from the Exome Variant Server FKBP6_000008 1/13004 1/8598 0/4406 - - - - - - -
?/? c.175+14C>T r.(=) p.(=) g.72742709C>T Copied from the Exome Variant Server FKBP6_000010 2/13004 0/8598 2/4406 - - - - - - -
?/? c.175+45T>C r.(=) p.(=) g.72742740T>C Copied from the Exome Variant Server FKBP6_000012 2/13004 0/8598 2/4406 - - - - - - -
?/? c.176-48C>T r.(=) p.(=) g.72743315C>T Copied from the Exome Variant Server FKBP6_000014 1/12998 0/8600 1/4398 - - - - - - -
?/? c.176-47G>A r.(=) p.(=) g.72743316G>A Copied from the Exome Variant Server FKBP6_000016 300/13000 267/8600 33/4400 - - - - - - -
?/? c.176-23T>G r.(=) p.(=) g.72743340T>G Copied from the Exome Variant Server FKBP6_000005 1/13002 0/8600 1/4402 - - - - - - -
?/? c.176-15T>G r.(=) p.(=) g.72743348T>G Copied from the Exome Variant Server FKBP6_000007 1/13002 1/8600 0/4402 - - - - - - -
?/? c.176-3T>C r.spl? p.? g.72743360T>C Copied from the Exome Variant Server FKBP6_000009 1/13004 0/8600 1/4404 - - - - - - -
?/? c.217G>A r.(?) p.(Asp73Asn) g.72743404G>A Copied from the Exome Variant Server FKBP6_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.250A>G r.(?) p.(Met84Val) g.72743437A>G Copied from the Exome Variant Server FKBP6_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.256C>A r.(?) p.(Leu86Ile) g.72743443C>A Copied from the Exome Variant Server FKBP6_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.265+19C>T r.(=) p.(=) g.72743471C>T Copied from the Exome Variant Server FKBP6_000017 13/13006 0/8600 13/4406 - - - - - - -
?/? c.265+27G>A r.(=) p.(=) g.72743479G>A Copied from the Exome Variant Server FKBP6_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.265+50T>A r.(=) p.(=) g.72743502T>A Copied from the Exome Variant Server FKBP6_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.265+57C>T r.(=) p.(=) g.72743509C>T Copied from the Exome Variant Server FKBP6_000020 1/4566 0/3182 1/1384 - - - - - - -
?/? c.266-10A>G r.(=) p.(=) g.72744143A>G Copied from the Exome Variant Server FKBP6_000021 473/13006 1/8600 472/4406 - - - - - - -
?/? c.309G>A r.(=) p.(=) g.72744196G>A Copied from the Exome Variant Server FKBP6_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.330T>G r.(?) p.(Phe110Leu) g.72744217T>G Copied from the Exome Variant Server FKBP6_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.351C>T r.(=) p.(=) g.72744238C>T Copied from the Exome Variant Server FKBP6_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.359C>T r.(?) p.(Thr120Met) g.72744246C>T Copied from the Exome Variant Server FKBP6_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.360G>A r.(=) p.(=) g.72744247G>A Copied from the Exome Variant Server FKBP6_000026 200/13006 0/8600 200/4406 - - - - - - -
?/? c.366_370del r.(?) p.(Cys123Serfs*12) g.72744253_72744257del Copied from the Exome Variant Server FKBP6_000027 275/12518 173/8254 102/4264 - - - - - - -
?/? c.384C>T r.(=) p.(=) g.72744271C>T Copied from the Exome Variant Server FKBP6_000028 3/13006 3/8600 0/4406 - - - - - - -
?/? c.417G>C r.(=) p.(=) g.72744304G>C Copied from the Exome Variant Server FKBP6_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.434G>C r.(?) p.(Cys145Ser) g.72744321G>C Copied from the Exome Variant Server FKBP6_000030 13/13006 0/8600 13/4406 - - - - - - -
?/? c.466G>C r.(?) p.(Ala156Pro) g.72744353G>C Copied from the Exome Variant Server FKBP6_000031 2/13006 0/8600 2/4406 - - - - - - -
?/? c.468+24A>G r.(=) p.(=) g.72744379A>G Copied from the Exome Variant Server FKBP6_000032 1/13004 1/8600 0/4404 - - - - - - -
?/? c.468+39G>C r.(=) p.(=) g.72744394G>C Copied from the Exome Variant Server FKBP6_000033 2/13004 0/8598 2/4406 - - - - - - -
?/? c.469-51G>A r.(=) p.(=) g.72745609G>A Copied from the Exome Variant Server FKBP6_000034 1/12204 1/8306 0/3898 - - - - - - -
?/? c.469-48T>C r.(=) p.(=) g.72745612T>C Copied from the Exome Variant Server FKBP6_000035 1/12202 0/8298 1/3904 - - - - - - -
?/? c.469-9G>T r.(=) p.(=) g.72745651G>T Copied from the Exome Variant Server FKBP6_000036 1/12146 1/8290 0/3856 - - - - - - -
?/? c.519G>A r.(=) p.(=) g.72745710G>A Copied from the Exome Variant Server FKBP6_000037 26/11950 0/8204 26/3746 - - - - - - -
?/? c.524G>A r.(?) p.(Arg175Gln) g.72745715G>A Copied from the Exome Variant Server FKBP6_000038 1/11944 1/8202 0/3742 - - - - - - -
?/? c.528G>A r.(=) p.(=) g.72745719G>A Copied from the Exome Variant Server FKBP6_000039 1/11942 0/8198 1/3744 - - - - - - -
?/? c.540C>T r.(=) p.(=) g.72745731C>T Copied from the Exome Variant Server FKBP6_000040 4/11942 4/8202 0/3740 - - - - - - -
?/? c.547C>T r.(?) p.(Arg183Cys) g.72745738C>T Copied from the Exome Variant Server FKBP6_000041 35/11916 34/8196 1/3720 - - - - - - -
?/? c.548G>A r.(?) p.(Arg183His) g.72745739G>A Copied from the Exome Variant Server FKBP6_000042 1/11916 1/8198 0/3718 - - - - - - -
?/? c.557G>A r.(?) p.(Arg186His) g.72745748G>A Copied from the Exome Variant Server FKBP6_000043 2/11920 1/8194 1/3726 - - - - - - -
?/? c.563A>G r.(?) p.(Tyr188Cys) g.72745754A>G Copied from the Exome Variant Server FKBP6_000044 1/11922 1/8196 0/3726 - - - - - - -
?/? c.588+2_588+3insGA r.spl? p.? g.72745781_72745782insGA Copied from the Exome Variant Server FKBP6_000045 1/11438 1/7850 0/3588 - - - - - - -
?/? c.588+18G>T r.(=) p.(=) g.72745797G>T Copied from the Exome Variant Server FKBP6_000046 1/11906 1/8186 0/3720 - - - - - - -
?/? c.589-26T>C r.(=) p.(=) g.72754614T>C Copied from the Exome Variant Server FKBP6_000047 1/12202 1/8286 0/3916 - - - - - - -
?/? c.594G>A r.(=) p.(=) g.72754645G>A Copied from the Exome Variant Server FKBP6_000048 534/12238 471/8298 63/3940 - - - - - - -
?/? c.605G>A r.(?) p.(Arg202His) g.72754656G>A Copied from the Exome Variant Server FKBP6_000049 105/12236 0/8298 105/3938 - - - - - - -
?/? c.783+18G>A r.(=) p.(=) g.72754852G>A Copied from the Exome Variant Server FKBP6_000050 1/12100 0/8260 1/3840 - - - - - - -
?/? c.783+28T>C r.(=) p.(=) g.72754862T>C Copied from the Exome Variant Server FKBP6_000051 1/12050 1/8244 0/3806 - - - - - - -
?/? c.783+31A>G r.(=) p.(=) g.72754865A>G Copied from the Exome Variant Server FKBP6_000052 1/12046 0/8238 1/3808 - - - - - - -
?/? c.784-39_784-38del r.(=) p.(=) g.72755233_72755234del Copied from the Exome Variant Server FKBP6_000053 33/11468 26/7842 7/3626 - - - - - - -
?/? c.810A>G r.(=) p.(=) g.72755298A>G Copied from the Exome Variant Server FKBP6_000054 1/11876 1/8196 0/3680 - - - - - - -
?/? c.817C>T r.(?) p.(Arg273Trp) g.72755305C>T Copied from the Exome Variant Server FKBP6_000055 1/11890 0/8194 1/3696 - - - - - - -
?/? c.832C>G r.(?) p.(Arg278Gly) g.72755320C>G Copied from the Exome Variant Server FKBP6_000056 1/11976 0/8222 1/3754 - - - - - - -
?/? c.837C>T r.(=) p.(=) g.72755325C>T Copied from the Exome Variant Server FKBP6_000057 2/12014 0/8236 2/3778 - - - - - - -
?/? c.859C>A r.(?) p.(His287Asn) g.72755347C>A Copied from the Exome Variant Server FKBP6_000059 2/12130 2/8278 0/3852 - - - - - - -
?/? c.894-36A>G r.(=) p.(=) g.72756771A>G Copied from the Exome Variant Server FKBP6_000061 1/12346 1/8358 0/3988 - - - - - - -
?/? c.894-23C>T r.(=) p.(=) g.72756784C>T Copied from the Exome Variant Server FKBP6_000063 1/12352 1/8366 0/3986 - - - - - - -
?/? c.894-22G>A r.(=) p.(=) g.72756785G>A Copied from the Exome Variant Server FKBP6_000058 236/12366 216/8368 20/3998 - - - - - - -
?/? c.894-18G>A r.(=) p.(=) g.72756789G>A Copied from the Exome Variant Server FKBP6_000060 1/12382 0/8368 1/4014 - - - - - - -
?/? c.894-4C>G r.spl? p.? g.72756803C>G Copied from the Exome Variant Server FKBP6_000062 79/12378 1/8364 78/4014 - - - - - - -
?/? c.896G>A r.(?) p.(Cys299Tyr) g.72756809G>A Copied from the Exome Variant Server FKBP6_000064 14/12376 0/8366 14/4010 - - - - - - -
?/? c.908A>G r.(?) p.(Tyr303Cys) g.72756821A>G Copied from the Exome Variant Server FKBP6_000065 1/12388 1/8364 0/4024 - - - - - - -
?/? c.932G>C r.(?) p.(Trp311Ser) g.72756845G>C Copied from the Exome Variant Server FKBP6_000066 2/12432 0/8366 2/4066 - - - - - - -
?/? c.938G>A r.(?) p.(Arg313His) g.72756851G>A Copied from the Exome Variant Server FKBP6_000067 1/12450 1/8380 0/4070 - - - - - - -
?/? c.*2+15A>G r.(=) p.(=) g.72756914A>G Copied from the Exome Variant Server FKBP6_000068 8/12464 0/8374 8/4090 - - - - - - -
?/? c.*2+21G>A r.(=) p.(=) g.72756920G>A Copied from the Exome Variant Server FKBP6_000069 1/12478 0/8378 1/4100 - - - - - - -
?/? c.*2+34C>T r.(=) p.(=) g.72756933C>T Copied from the Exome Variant Server FKBP6_000070 1/12504 1/8394 0/4110 - - - - - - -
?/? c.*2+46C>T r.(=) p.(=) g.72756945C>T Copied from the Exome Variant Server FKBP6_000071 1/12550 1/8404 0/4146 - - - - - - -
Legend