Full data view for gene AAK1

Information The variants shown are described using the NM_014911.3 transcript reference sequence.

154 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.-46del r.(=) p.(=) g.69870218del Copied from the Exome Variant Server AAK1_000144 406/3196 314/2324 92/872 - - - - - - -
?/? c.-9A>G r.(=) p.(=) g.69870181T>C Copied from the Exome Variant Server AAK1_000142 20/11846 0/8158 20/3688 - - - - - - -
?/? c.54C>A r.(=) p.(=) g.69870119G>T Copied from the Exome Variant Server AAK1_000139 272/12016 5/8216 267/3800 - - - - - - -
?/? c.86G>C r.(?) p.(Gly29Ala) g.69870087C>G Copied from the Exome Variant Server AAK1_000137 4/12230 0/8282 4/3948 - - - - - - -
?/? c.163+5G>A r.spl? p.? g.69870005C>T Copied from the Exome Variant Server AAK1_000136 3/12508 0/8412 3/4096 - - - - - - -
?/? c.164-29A>G r.(=) p.(=) g.69784139T>C Copied from the Exome Variant Server AAK1_000134 1/12216 0/8318 1/3898 - - - - - - -
?/? c.177T>C r.(=) p.(=) g.69784097A>G Copied from the Exome Variant Server AAK1_000132 1/12302 0/8350 1/3952 - - - - - - -
?/? c.197G>A r.(?) p.(Ser66Asn) g.69784077C>T Copied from the Exome Variant Server AAK1_000130 1/12350 1/8366 0/3984 - - - - - - -
?/? c.200A>G r.(?) p.(Asn67Ser) g.69784074T>C Copied from the Exome Variant Server AAK1_000128 4/12338 4/8364 0/3974 - - - - - - -
?/? c.216C>T r.(=) p.(=) g.69784058G>A Copied from the Exome Variant Server AAK1_000126 1/12350 0/8354 1/3996 - - - - - - -
?/? c.282+12C>T r.(=) p.(=) g.69783980G>A Copied from the Exome Variant Server AAK1_000123 2/12208 2/8302 0/3906 - - - - - - -
?/? c.282+27T>G r.(=) p.(=) g.69783965A>C Copied from the Exome Variant Server AAK1_000121 1/12152 0/8276 1/3876 - - - - - - -
?/? c.283-49C>G r.(=) p.(=) g.69771725G>C Copied from the Exome Variant Server AAK1_000119 1/11988 1/8220 0/3768 - - - - - - -
?/? c.283-15C>G r.(=) p.(=) g.69771691G>C Copied from the Exome Variant Server AAK1_000154 1/12022 1/8232 0/3790 - - - - - - -
?/? c.283-11C>G r.(=) p.(=) g.69771687G>C Copied from the Exome Variant Server AAK1_000153 1/12024 1/8234 0/3790 - - - - - - -
?/? c.283-5C>G r.spl? p.? g.69771681G>C Copied from the Exome Variant Server AAK1_000152 1/12032 1/8236 0/3796 - - - - - - -
?/? c.309T>C r.(=) p.(=) g.69771650A>G Copied from the Exome Variant Server AAK1_000151 1/12116 1/8278 0/3838 - - - - - - -
?/? c.315T>A r.(=) p.(=) g.69771644A>T Copied from the Exome Variant Server AAK1_000150 2/12146 2/8288 0/3858 - - - - - - -
?/? c.339C>T r.(=) p.(=) g.69771620G>A Copied from the Exome Variant Server AAK1_000149 1/12188 0/8292 1/3896 - - - - - - -
?/? c.348C>T r.(=) p.(=) g.69771611G>A Copied from the Exome Variant Server AAK1_000148 64/12190 1/8294 63/3896 - - - - - - -
?/? c.391+40A>G r.(=) p.(=) g.69771528T>C Copied from the Exome Variant Server AAK1_000147 1/12156 1/8298 0/3858 - - - - - - -
?/? c.392-30G>A r.(=) p.(=) g.69769827C>T Copied from the Exome Variant Server AAK1_000146 28/12126 26/8280 2/3846 - - - - - - -
?/? c.408C>T r.(=) p.(=) g.69769781G>A Copied from the Exome Variant Server AAK1_000145 2/12068 0/8254 2/3814 - - - - - - -
?/? c.460A>G r.(?) p.(Ile154Val) g.69769729T>C Copied from the Exome Variant Server AAK1_000143 2/12288 2/8346 0/3942 - - - - - - -
?/? c.490C>T r.(?) p.(Arg164Cys) g.69769699G>A Copied from the Exome Variant Server AAK1_000141 1/12340 0/8378 1/3962 - - - - - - -
?/? c.534+13C>G r.(=) p.(=) g.69769642G>C Copied from the Exome Variant Server AAK1_000140 1/12230 0/8318 1/3912 - - - - - - -
?/? c.535-51G>A r.(=) p.(=) g.69759345C>T Copied from the Exome Variant Server AAK1_000138 1/6256 1/4236 0/2020 - - - - - - -
?/? c.535-30del r.(=) p.(=) g.69759324del Copied from the Exome Variant Server AAK1_000135 1/11536 0/7872 1/3664 - - - - - - -
?/? c.567C>G r.(?) p.(His189Gln) g.69759262G>C Copied from the Exome Variant Server AAK1_000133 1/12254 1/8312 0/3942 - - - - - - -
?/? c.569A>G r.(?) p.(Tyr190Cys) g.69759260T>C Copied from the Exome Variant Server AAK1_000131 1/12254 1/8310 0/3944 - - - - - - -
?/? c.702C>T r.(=) p.(=) g.69757793G>A Copied from the Exome Variant Server AAK1_000129 1/12292 0/8346 1/3946 - - - - - - -
?/? c.739-49G>A r.(=) p.(=) g.69757321C>T Copied from the Exome Variant Server AAK1_000127 1/11820 1/8174 0/3646 - - - - - - -
?/? c.739-33C>T r.(=) p.(=) g.69757305G>A Copied from the Exome Variant Server AAK1_000125 1/11814 1/8172 0/3642 - - - - - - -
?/? c.739-19T>C r.(=) p.(=) g.69757291A>G Copied from the Exome Variant Server AAK1_000124 84/11810 24/8168 60/3642 - - - - - - -
?/? c.768C>T r.(=) p.(=) g.69757243G>A Copied from the Exome Variant Server AAK1_000122 1/11816 0/8150 1/3666 - - - - - - -
?/? c.855C>T r.(=) p.(=) g.69757156G>A Copied from the Exome Variant Server AAK1_000120 102/11834 1/8172 101/3662 - - - - - - -
?/? c.858G>A r.(?) p.(Met286Ile) g.69757153C>T Copied from the Exome Variant Server AAK1_000118 2/11826 0/8170 2/3656 - - - - - - -
?/? c.871+26A>G r.(=) p.(=) g.69757114T>C Copied from the Exome Variant Server AAK1_000117 1/11716 1/8124 0/3592 - - - - - - -
?/? c.871+44A>G r.(=) p.(=) g.69757096T>C Copied from the Exome Variant Server AAK1_000116 2/11644 2/8076 0/3568 - - - - - - -
?/? c.888A>G r.(=) p.(=) g.69754435T>C Copied from the Exome Variant Server AAK1_000115 1/11868 1/8180 0/3688 - - - - - - -
?/? c.975+4C>T r.spl? p.? g.69754344G>A Copied from the Exome Variant Server AAK1_000114 3/11876 0/8180 3/3696 - - - - - - -
?/? c.975+28G>A r.(=) p.(=) g.69754320C>T Copied from the Exome Variant Server AAK1_000113 4/11880 1/8202 3/3678 - - - - - - -
?/? c.975+35T>A r.(=) p.(=) g.69754313A>T Copied from the Exome Variant Server AAK1_000112 1/11856 1/8196 0/3660 - - - - - - -
?/? c.982C>T r.(?) p.(Pro328Ser) g.69752238G>A Copied from the Exome Variant Server AAK1_000111 1/12028 0/8256 1/3772 - - - - - - -
?/? c.1008A>G r.(=) p.(=) g.69752212T>C Copied from the Exome Variant Server AAK1_000110 1/12124 1/8284 0/3840 - - - - - - -
?/? c.1056-19T>C r.(=) p.(=) g.69748139A>G Copied from the Exome Variant Server AAK1_000109 59/12086 1/8254 58/3832 - - - - - - -
?/? c.1123A>T r.(?) p.(Thr375Ser) g.69748053T>A Copied from the Exome Variant Server AAK1_000108 12/12298 12/8336 0/3962 - - - - - - -
?/? c.1210+45T>C r.(=) p.(=) g.69747921A>G Copied from the Exome Variant Server AAK1_000107 11/12076 11/8254 0/3822 - - - - - - -
?/? c.1219A>G r.(?) p.(Asn407Asp) g.69746364T>C Copied from the Exome Variant Server AAK1_000106 1/12282 0/8326 1/3956 - - - - - - -
?/? c.1260C>A r.(=) p.(=) g.69746323G>T Copied from the Exome Variant Server AAK1_000105 13/12384 0/8372 13/4012 - - - - - - -
?/? c.1282C>T r.(=) p.(=) g.69746301G>A Copied from the Exome Variant Server AAK1_000104 1/12494 1/8416 0/4078 - - - - - - -
?/? c.1285C>T r.(?) p.(Pro429Ser) g.69746298G>A Copied from the Exome Variant Server AAK1_000103 3/12514 3/8420 0/4094 - - - - - - -
?/? c.1287G>A r.(=) p.(=) g.69746296C>T Copied from the Exome Variant Server AAK1_000102 1233/12540 728/8426 505/4114 - - - - - - -
?/? c.1296G>T r.(?) p.(Gln432His) g.69746287C>A Copied from the Exome Variant Server AAK1_000101 1/12580 0/8436 1/4144 - - - - - - -
?/? c.1334C>T r.(?) p.(Thr445Met) g.69746249G>A Copied from the Exome Variant Server AAK1_000100 1/12734 1/8490 0/4244 - - - - - - -
?/? c.1339T>A r.(?) p.(Ser447Thr) g.69746244A>T Copied from the Exome Variant Server AAK1_000098 7/12730 0/8476 7/4254 - - - - - - -
?/? c.1398A>G r.(=) p.(=) g.69746185T>C Copied from the Exome Variant Server AAK1_000096 1/12042 0/7980 1/4062 - - - - - - -
?/? c.1441G>C r.(?) p.(Ala481Pro) g.69746142C>G Copied from the Exome Variant Server AAK1_000094 404/11076 11/7286 393/3790 - - - - - - -
?/? c.1489A>G r.(?) p.(Thr497Ala) g.69746094T>C Copied from the Exome Variant Server AAK1_000092 1/10404 0/6786 1/3618 - - - - - - -
?/? c.1497+30G>A r.(=) p.(=) g.69746056C>T Copied from the Exome Variant Server AAK1_000090 1/9758 1/6338 0/3420 - - - - - - -
?/? c.1498-48C>T r.(=) p.(=) g.69741929G>A Copied from the Exome Variant Server AAK1_000088 1/12170 1/8300 0/3870 - - - - - - -
?/? c.1498-31G>A r.(=) p.(=) g.69741912C>T Copied from the Exome Variant Server AAK1_000087 42/12286 33/8330 9/3956 - - - - - - -
?/? c.1498-23del r.(=) p.(=) g.69741904del Copied from the Exome Variant Server AAK1_000085 1/11830 0/7988 1/3842 - - - - - - -
?/? c.1498-20T>C r.(=) p.(=) g.69741901A>G Copied from the Exome Variant Server AAK1_000099 1/12344 1/8352 0/3992 - - - - - - -
?/? c.1578G>A r.(=) p.(=) g.69741801C>T Copied from the Exome Variant Server AAK1_000097 1968/12986 1384/8600 584/4386 - - - - - - -
?/? c.1582A>G r.(?) p.(Met528Val) g.69741797T>C Copied from the Exome Variant Server AAK1_000095 1/12990 0/8600 1/4390 - - - - - - -
?/? c.1605G>A r.(=) p.(=) g.69741774C>T Copied from the Exome Variant Server AAK1_000093 1/13000 0/8600 1/4400 - - - - - - -
?/? c.1623_1625del r.(?) p.(Gln546del) g.69741754_69741756del Copied from the Exome Variant Server AAK1_000091 4269/12464 3317/8232 952/4232 - - - - - - -
?/? c.1655A>G r.(?) p.(His552Arg) g.69741724T>C Copied from the Exome Variant Server AAK1_000089 1/12974 1/8588 0/4386 - - - - - - -
?/? c.1666C>T r.(=) p.(=) g.69741713G>A Copied from the Exome Variant Server AAK1_000086 1/12960 1/8574 0/4386 - - - - - - -
?/? c.1695A>G r.(=) p.(=) g.69741684T>C Copied from the Exome Variant Server AAK1_000084 1/12780 1/8460 0/4320 - - - - - - -
?/? c.1735_1736insAA r.(?) p.(Pro579Glnfs*20) g.69741643_69741644insTT Copied from the Exome Variant Server AAK1_000083 11/11266 5/7486 6/3780 - - - - - - -
?/? c.1770G>A r.(=) p.(=) g.69741609C>T Copied from the Exome Variant Server AAK1_000082 3072/11566 2665/7644 407/3922 - - - - - - -
?/? c.1776+17G>A r.(=) p.(=) g.69741586C>T Copied from the Exome Variant Server AAK1_000081 2/11352 2/7488 0/3864 - - - - - - -
?/? c.1776+41G>A r.(=) p.(=) g.69741562C>T Copied from the Exome Variant Server AAK1_000080 11/11244 1/7386 10/3858 - - - - - - -
?/? c.1777-18C>T r.(=) p.(=) g.69736610G>A Copied from the Exome Variant Server AAK1_000079 1/11874 1/8172 0/3702 - - - - - - -
?/? c.1777-6T>C r.(=) p.(=) g.69736598A>G Copied from the Exome Variant Server AAK1_000078 1/11916 0/8190 1/3726 - - - - - - -
?/? c.1808T>C r.(?) p.(Val603Ala) g.69736561A>G Copied from the Exome Variant Server AAK1_000077 396/12006 356/8224 40/3782 - - - - - - -
?/? c.1976C>T r.(?) p.(Ala659Val) g.69736393G>A Copied from the Exome Variant Server AAK1_000076 1/12184 1/8300 0/3884 - - - - - - -
?/? c.2006+16T>C r.(=) p.(=) g.69736347A>G Copied from the Exome Variant Server AAK1_000075 3/12266 0/8350 3/3916 - - - - - - -
?/? c.2006+31C>T r.(=) p.(=) g.69736332G>A Copied from the Exome Variant Server AAK1_000074 1/12276 1/8358 0/3918 - - - - - - -
?/? c.2006+33T>A r.(=) p.(=) g.69736330A>T Copied from the Exome Variant Server AAK1_000073 1/12274 1/8354 0/3920 - - - - - - -
?/? c.2007-35A>G r.(=) p.(=) g.69734745T>C Copied from the Exome Variant Server AAK1_000072 4/11772 0/8132 4/3640 - - - - - - -
?/? c.2007-22G>A r.(=) p.(=) g.69734732C>T Copied from the Exome Variant Server AAK1_000071 2/11818 1/8138 1/3680 - - - - - - -
?/? c.2007-3T>C r.spl? p.? g.69734713A>G Copied from the Exome Variant Server AAK1_000070 1/11872 0/8164 1/3708 - - - - - - -
?/? c.2049A>G r.(=) p.(=) g.69734668T>C Copied from the Exome Variant Server AAK1_000069 1/11938 0/8190 1/3748 - - - - - - -
?/? c.2055C>T r.(=) p.(=) g.69734662G>A Copied from the Exome Variant Server AAK1_000068 1/11944 1/8196 0/3748 - - - - - - -
?/? c.2073A>G r.(=) p.(=) g.69734644T>C Copied from the Exome Variant Server AAK1_000067 1/11978 0/8206 1/3772 - - - - - - -
?/? c.2081C>T r.(?) p.(Thr694Met) g.69734636G>A Copied from the Exome Variant Server AAK1_000066 83/12006 79/8214 4/3792 - - - - - - -
?/? c.2100C>T r.(=) p.(=) g.69734617G>A Copied from the Exome Variant Server AAK1_000065 5/12044 5/8236 0/3808 - - - - - - -
?/? c.2134C>G r.(?) p.(Leu712Val) g.69734583G>C Copied from the Exome Variant Server AAK1_000064 1/12044 1/8264 0/3780 - - - - - - -
?/? c.2157T>G r.(=) p.(=) g.69734560A>C Copied from the Exome Variant Server AAK1_000063 82/12026 0/8258 82/3768 - - - - - - -
?/? c.2160G>C r.(=) p.(=) g.69734557C>G Copied from the Exome Variant Server AAK1_000062 1/12024 1/8254 0/3770 - - - - - - -
?/? c.2173C>A r.(?) p.(Pro725Thr) g.69732797G>T Copied from the Exome Variant Server AAK1_000061 9/12112 9/8248 0/3864 - - - - - - -
?/? c.2269+12A>G r.(=) p.(=) g.69732689T>C Copied from the Exome Variant Server AAK1_000060 1/12018 1/8242 0/3776 - - - - - - -
?/? c.2269+13A>C r.(=) p.(=) g.69732688T>G Copied from the Exome Variant Server AAK1_000059 1/12024 1/8244 0/3780 - - - - - - -
?/? c.2269+37G>C r.(=) p.(=) g.69732664C>G Copied from the Exome Variant Server AAK1_000058 7/11974 7/8238 0/3736 - - - - - - -
?/? c.2270-29C>T r.(=) p.(=) g.69723241G>A Copied from the Exome Variant Server AAK1_000057 1/11706 1/8012 0/3694 - - - - - - -
?/? c.2270-17C>T r.(=) p.(=) g.69723229G>A Copied from the Exome Variant Server AAK1_000056 21/11806 0/8086 21/3720 - - - - - - -
?/? c.2270-11C>A r.(=) p.(=) g.69723223G>T Copied from the Exome Variant Server AAK1_000054 354/11816 6/8088 348/3728 - - - - - - -
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