Full data view for gene DGKK

Information The variants shown are described using the NM_001013742.2 transcript reference sequence.

151 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.96G>A r.(=) p.(=) g.50213582C>T Copied from the Exome Variant Server DGKK_000151 3/9293 1/6188 2/3105 - - - - - - -
?/? c.108_119del r.(?) p.(Pro41_Pro44del) g.50213559_50213570del Copied from the Exome Variant Server DGKK_000150 91/8620 61/5798 30/2822 - - - - - - -
?/? c.122_133del r.(?) p.(Pro41_Pro44del) g.50213545_50213556del Copied from the Exome Variant Server DGKK_000149 105/8643 82/5825 23/2818 - - - - - - -
?/? c.249A>G r.(=) p.(=) g.50213429T>C Copied from the Exome Variant Server DGKK_000148 102/9568 97/6390 5/3178 - - - - - - -
?/? c.271_282del r.(?) p.(Ser91_Ala94del) g.50213396_50213407del Copied from the Exome Variant Server DGKK_000147 50/9036 32/6097 18/2939 - - - - - - -
?/? c.317C>T r.(?) p.(Ala106Val) g.50213361G>A Copied from the Exome Variant Server DGKK_000146 34/9430 0/6343 34/3087 - - - - - - -
?/? c.315_326del r.(?) p.(Thr107_Ala110del) g.50213352_50213363del Copied from the Exome Variant Server DGKK_000145 405/9043 265/6101 140/2942 - - - - - - -
?/? c.349dup r.(?) p.(Ala118Cysfs*51) g.50213329dup Copied from the Exome Variant Server DGKK_000144 150/9100 100/6127 50/2973 - - - - - - -
?/? c.339_350del r.(?) p.(Pro115_Ala118del) g.50213328_50213339del Copied from the Exome Variant Server DGKK_000143 135/9100 91/6127 44/2973 - - - - - - -
?/? c.397T>A r.(?) p.(Ser133Thr) g.50213281A>T Copied from the Exome Variant Server DGKK_000142 2/9501 2/6376 0/3125 - - - - - - -
?/? c.420G>T r.(?) p.(Glu140Asp) g.50213258C>A Copied from the Exome Variant Server DGKK_000141 1/9574 1/6390 0/3184 - - - - - - -
?/? c.503A>G r.(?) p.(Glu168Gly) g.50213175T>C Copied from the Exome Variant Server DGKK_000140 1/9730 0/6448 1/3282 - - - - - - -
?/? c.507G>T r.(=) p.(=) g.50213171C>A Copied from the Exome Variant Server DGKK_000139 43/9748 0/6452 43/3296 - - - - - - -
?/? c.518T>G r.(?) p.(Phe173Cys) g.50213160A>C Copied from the Exome Variant Server DGKK_000138 1/9802 0/6460 1/3342 - - - - - - -
?/? c.521G>A r.(?) p.(Arg174His) g.50213157C>T Copied from the Exome Variant Server DGKK_000137 1/9816 0/6462 1/3354 - - - - - - -
?/? c.529C>T r.(?) p.(Pro177Ser) g.50213149G>A Copied from the Exome Variant Server DGKK_000136 1/9835 1/6467 0/3368 - - - - - - -
?/? c.603_608del r.(?) p.(Ser204_Pro205del) g.50213070_50213075del Copied from the Exome Variant Server DGKK_000135 630/9435 73/6229 557/3206 - - - - - - -
?/? c.603_614del r.(?) p.(Ser202_Pro205del) g.50213064_50213075del Copied from the Exome Variant Server DGKK_000134 13/9435 10/6229 3/3206 - - - - - - -
?/? c.646-9A>G r.(=) p.(=) g.50167365T>C Copied from the Exome Variant Server DGKK_000133 1/9539 1/6397 0/3142 - - - - - - -
?/? c.753C>T r.(=) p.(=) g.50167249G>A Copied from the Exome Variant Server DGKK_000132 1/9610 0/6422 1/3188 - - - - - - -
?/? c.754G>A r.(?) p.(Ala252Thr) g.50167248C>T Copied from the Exome Variant Server DGKK_000131 1/9600 1/6420 0/3180 - - - - - - -
?/? c.756+33G>T r.(=) p.(=) g.50167213C>A Copied from the Exome Variant Server DGKK_000130 1/9624 1/6422 0/3202 - - - - - - -
?/? c.757-49A>G r.(=) p.(=) g.50165573T>C Copied from the Exome Variant Server DGKK_000129 1/9862 0/6493 1/3369 - - - - - - -
?/? c.757-36C>T r.(=) p.(=) g.50165560G>A Copied from the Exome Variant Server DGKK_000128 3/9856 2/6491 1/3365 - - - - - - -
?/? c.757-24C>G r.(=) p.(=) g.50165548G>C Copied from the Exome Variant Server DGKK_000127 2/9841 0/6489 2/3352 - - - - - - -
?/? c.774G>A r.(=) p.(=) g.50165507C>T Copied from the Exome Variant Server DGKK_000126 2/9768 0/6468 2/3300 - - - - - - -
?/? c.775A>G r.(?) p.(Ile259Val) g.50165506T>C Copied from the Exome Variant Server DGKK_000125 4/9769 0/6467 4/3302 - - - - - - -
?/? c.828C>T r.(=) p.(=) g.50165453G>A Copied from the Exome Variant Server DGKK_000124 1/9616 1/6426 0/3190 - - - - - - -
?/? c.837+15G>A r.(=) p.(=) g.50165429C>T Copied from the Exome Variant Server DGKK_000123 1/9592 1/6418 0/3174 - - - - - - -
?/? c.837+27G>A r.(=) p.(=) g.50165417C>T Copied from the Exome Variant Server DGKK_000122 1/9586 0/6410 1/3176 - - - - - - -
?/? c.838-39T>C r.(=) p.(=) g.50163544A>G Copied from the Exome Variant Server DGKK_000121 1/9623 1/6401 0/3222 - - - - - - -
?/? c.838-37G>C r.(=) p.(=) g.50163542C>G Copied from the Exome Variant Server DGKK_000120 1/9631 1/6403 0/3228 - - - - - - -
?/? c.848C>T r.(?) p.(Pro283Leu) g.50163495G>A Copied from the Exome Variant Server DGKK_000119 1/9588 0/6404 1/3184 - - - - - - -
?/? c.854G>A r.(?) p.(Arg285Gln) g.50163489C>T Copied from the Exome Variant Server DGKK_000118 1/9561 0/6401 1/3160 - - - - - - -
?/? c.864T>C r.(=) p.(=) g.50163479A>G Copied from the Exome Variant Server DGKK_000117 1/9559 1/6401 0/3158 - - - - - - -
?/? c.907A>G r.(?) p.(Ile303Val) g.50163436T>C Copied from the Exome Variant Server DGKK_000116 1/9469 0/6383 1/3086 - - - - - - -
?/? c.927G>A r.(=) p.(=) g.50163416C>T Copied from the Exome Variant Server DGKK_000115 1/9428 1/6370 0/3058 - - - - - - -
?/? c.1010G>T r.(?) p.(Arg337Leu) g.50147115C>A Copied from the Exome Variant Server DGKK_000114 6/9901 0/6515 6/3386 - - - - - - -
?/? c.1034G>A r.(?) p.(Arg345Gln) g.50147091C>T Copied from the Exome Variant Server DGKK_000113 1/9901 0/6501 1/3400 - - - - - - -
?/? c.1079-25A>G r.(=) p.(=) g.50146620T>C Copied from the Exome Variant Server DGKK_000112 185/9738 1/6435 184/3303 - - - - - - -
?/? c.1104G>A r.(=) p.(=) g.50146570C>T Copied from the Exome Variant Server DGKK_000111 4684/9822 2179/6490 2505/3332 - - - - - - -
?/? c.1183G>A r.(?) p.(Val395Ile) g.50146491C>T Copied from the Exome Variant Server DGKK_000110 1/9850 0/6478 1/3372 - - - - - - -
?/? c.1185+18C>A r.(=) p.(=) g.50146471G>T Copied from the Exome Variant Server DGKK_000109 11/9852 11/6498 0/3354 - - - - - - -
?/? c.1309-34_1309-33insCT r.(=) p.(=) g.50144170_50144171insAG Copied from the Exome Variant Server DGKK_000108 243/9206 140/6138 103/3068 - - - - - - -
?/? c.1317T>C r.(=) p.(=) g.50144129A>G Copied from the Exome Variant Server DGKK_000107 1/9725 1/6461 0/3264 - - - - - - -
?/? c.1364G>T r.(?) p.(Arg455Leu) g.50144082C>A Copied from the Exome Variant Server DGKK_000106 13/9807 12/6477 1/3330 - - - - - - -
?/? c.1411+15C>A r.(=) p.(=) g.50144020G>T Copied from the Exome Variant Server DGKK_000105 28/9763 25/6447 3/3316 - - - - - - -
?/? c.1411+17T>C r.(=) p.(=) g.50144018A>G Copied from the Exome Variant Server DGKK_000104 1/9763 1/6447 0/3316 - - - - - - -
?/? c.1412-37G>A r.(=) p.(=) g.50136370C>T Copied from the Exome Variant Server DGKK_000103 4/9591 4/6415 0/3176 - - - - - - -
?/? c.1412-37_1412-36insGG r.(=) p.(=) g.50136369_50136370insCC Copied from the Exome Variant Server DGKK_000102 58/9234 39/6167 19/3067 - - - - - - -
?/? c.1412-36T>C r.(=) p.(=) g.50136369A>G Copied from the Exome Variant Server DGKK_000101 1/9591 1/6415 0/3176 - - - - - - -
?/? c.1412-30T>A r.(=) p.(=) g.50136363A>T Copied from the Exome Variant Server DGKK_000100 1/9592 1/6413 0/3179 - - - - - - -
?/? c.1515G>T r.(=) p.(=) g.50136230C>A Copied from the Exome Variant Server DGKK_000099 3/10067 3/6551 0/3516 - - - - - - -
?/? c.1529G>A r.(?) p.(Arg510Gln) g.50136216C>T Copied from the Exome Variant Server DGKK_000098 1/9975 1/6527 0/3448 - - - - - - -
?/? c.1595+23T>C r.(=) p.(=) g.50136127A>G Copied from the Exome Variant Server DGKK_000097 1/9638 1/6406 0/3232 - - - - - - -
?/? c.1596-17C>A r.(=) p.(=) g.50135464G>T Copied from the Exome Variant Server DGKK_000096 1/9857 1/6503 0/3354 - - - - - - -
?/? c.1596-16C>T r.(=) p.(=) g.50135463G>A Copied from the Exome Variant Server DGKK_000095 8/9854 8/6504 0/3350 - - - - - - -
?/? c.1704+12G>T r.(=) p.(=) g.50135327C>A Copied from the Exome Variant Server DGKK_000094 2489/9878 1623/6508 866/3370 - - - - - - -
?/? c.1704+33C>T r.(=) p.(=) g.50135306G>A Copied from the Exome Variant Server DGKK_000093 1/9817 1/6490 0/3327 - - - - - - -
?/? c.1705-23G>A r.(=) p.(=) g.50134597C>T Copied from the Exome Variant Server DGKK_000092 158/9840 1/6472 157/3368 - - - - - - -
?/? c.1735G>A r.(?) p.(Gly579Ser) g.50134544C>T Copied from the Exome Variant Server DGKK_000091 1/10014 0/6510 1/3504 - - - - - - -
?/? c.1761C>T r.(=) p.(=) g.50134518G>A Copied from the Exome Variant Server DGKK_000090 8/10075 0/6535 8/3540 - - - - - - -
?/? c.1827T>C r.(=) p.(=) g.50134452A>G Copied from the Exome Variant Server DGKK_000089 142/10080 131/6542 11/3538 - - - - - - -
?/? c.1835T>A r.(?) p.(Ile612Asn) g.50134444A>T Copied from the Exome Variant Server DGKK_000088 197/10078 1/6540 196/3538 - - - - - - -
?/? c.1844+31C>T r.(=) p.(=) g.50134404G>A Copied from the Exome Variant Server DGKK_000087 4/10008 4/6518 0/3490 - - - - - - -
?/? c.1845-21C>T r.(=) p.(=) g.50133428G>A Copied from the Exome Variant Server DGKK_000086 7/9585 7/6415 0/3170 - - - - - - -
?/? c.1845-20G>A r.(=) p.(=) g.50133427C>T Copied from the Exome Variant Server DGKK_000085 2/9575 0/6413 2/3162 - - - - - - -
?/? c.1884G>T r.(=) p.(=) g.50133368C>A Copied from the Exome Variant Server DGKK_000084 1/9662 1/6436 0/3226 - - - - - - -
?/? c.1927-42T>C r.(=) p.(=) g.50131658A>G Copied from the Exome Variant Server DGKK_000083 4/9987 0/6519 4/3468 - - - - - - -
?/? c.1962C>T r.(=) p.(=) g.50131581G>A Copied from the Exome Variant Server DGKK_000082 4/9901 4/6503 0/3398 - - - - - - -
?/? c.2018+6T>A r.(=) p.(=) g.50131519A>T Copied from the Exome Variant Server DGKK_000081 2/9865 2/6485 0/3380 - - - - - - -
?/? c.2018+35G>A r.(=) p.(=) g.50131490C>T Copied from the Exome Variant Server DGKK_000080 1/9794 0/6472 1/3322 - - - - - - -
?/? c.2037G>A r.(=) p.(=) g.50130633C>T Copied from the Exome Variant Server DGKK_000079 3/9636 0/6420 3/3216 - - - - - - -
?/? c.2066C>T r.(?) p.(Ala689Val) g.50130604G>A Copied from the Exome Variant Server DGKK_000078 1/9594 1/6408 0/3186 - - - - - - -
?/? c.2118+8C>T r.(=) p.(=) g.50130544G>A Copied from the Exome Variant Server DGKK_000077 2587/9525 1601/6403 986/3122 - - - - - - -
?/? c.2118+10C>T r.(=) p.(=) g.50130542G>A Copied from the Exome Variant Server DGKK_000076 1/9517 1/6401 0/3116 - - - - - - -
?/? c.2119-28del r.(=) p.(=) g.50129612del Copied from the Exome Variant Server DGKK_000075 22/9605 20/6267 2/3338 - - - - - - -
?/? c.2124C>T r.(=) p.(=) g.50129579G>A Copied from the Exome Variant Server DGKK_000074 191/10053 22/6547 169/3506 - - - - - - -
?/? c.2186C>G r.(?) p.(Ser729Cys) g.50129517G>C Copied from the Exome Variant Server DGKK_000073 1/10133 1/6575 0/3558 - - - - - - -
?/? c.2202T>C r.(=) p.(=) g.50129501A>G Copied from the Exome Variant Server DGKK_000072 1/10141 0/6573 1/3568 - - - - - - -
?/? c.2211T>C r.(=) p.(=) g.50129492A>G Copied from the Exome Variant Server DGKK_000071 2/10142 0/6572 2/3570 - - - - - - -
?/? c.2334T>C r.(=) p.(=) g.50129369A>G Copied from the Exome Variant Server DGKK_000070 3537/10279 1672/6626 1865/3653 - - - - - - -
?/? c.2348-19C>T r.(=) p.(=) g.50127841G>A Copied from the Exome Variant Server DGKK_000069 1/9589 0/6395 1/3194 - - - - - - -
?/? c.2384A>G r.(?) p.(Lys795Arg) g.50127786T>C Copied from the Exome Variant Server DGKK_000068 1/9562 1/6404 0/3158 - - - - - - -
?/? c.2388C>A r.(?) p.(Asn796Lys) g.50127782G>T Copied from the Exome Variant Server DGKK_000067 1/9563 1/6401 0/3162 - - - - - - -
?/? c.2452+10T>C r.(=) p.(=) g.50127708A>G Copied from the Exome Variant Server DGKK_000066 1/9538 0/6386 1/3152 - - - - - - -
?/? c.2452+16T>A r.(=) p.(=) g.50127702A>T Copied from the Exome Variant Server DGKK_000065 1/9546 1/6384 0/3162 - - - - - - -
?/? c.2452+40G>A r.(=) p.(=) g.50127678C>T Copied from the Exome Variant Server DGKK_000064 1/9543 0/6387 1/3156 - - - - - - -
?/? c.2499G>T r.(?) p.(Glu833Asp) g.50127216C>A Copied from the Exome Variant Server DGKK_000063 1/9704 0/6431 1/3273 - - - - - - -
?/? c.2520G>A r.(=) p.(=) g.50127195C>T Copied from the Exome Variant Server DGKK_000062 1/9642 0/6418 1/3224 - - - - - - -
?/? c.2529A>G r.(=) p.(=) g.50127186T>C Copied from the Exome Variant Server DGKK_000061 1/9630 1/6409 0/3221 - - - - - - -
?/? c.2550-27T>A r.(=) p.(=) g.50125628A>T Copied from the Exome Variant Server DGKK_000060 19/9654 19/6420 0/3234 - - - - - - -
?/? c.2551C>T r.(?) p.(Arg851Cys) g.50125600G>A Copied from the Exome Variant Server DGKK_000059 181/9544 1/6392 180/3152 - - - - - - -
?/? c.2552G>A r.(?) p.(Arg851His) g.50125599C>T Copied from the Exome Variant Server DGKK_000058 1/9548 1/6392 0/3156 - - - - - - -
?/? c.2630G>A r.(?) p.(Arg877Lys) g.50125521C>T Copied from the Exome Variant Server DGKK_000057 1/9649 1/6427 0/3222 - - - - - - -
?/? c.2657+44A>G r.(=) p.(=) g.50125450T>C Copied from the Exome Variant Server DGKK_000056 1/9728 1/6448 0/3280 - - - - - - -
?/? c.2658-42T>C r.(=) p.(=) g.50123117A>G Copied from the Exome Variant Server DGKK_000055 1/9835 1/6451 0/3384 - - - - - - -
?/? c.2671A>G r.(?) p.(Asn891Asp) g.50123062T>C Copied from the Exome Variant Server DGKK_000054 1/9588 0/6404 1/3184 - - - - - - -
?/? c.2740C>T r.(?) p.(Arg914*) g.50122993G>A Copied from the Exome Variant Server DGKK_000053 1/9568 1/6423 0/3145 - - - - - - -
?/? c.2754+15G>A r.(=) p.(=) g.50122964C>T Copied from the Exome Variant Server DGKK_000052 4/9649 0/6433 4/3216 - - - - - - -
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