Full data view for gene NRK

Information The variants shown are described using the NM_198465.2 transcript reference sequence.

163 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.-14G>C r.(=) p.(=) g.105066825G>C Copied from the Exome Variant Server NRK_000001 12/9584 0/6312 12/3272 - - - - - - -
?/? c.30G>T r.(?) p.(Arg10Ser) g.105066868G>T Copied from the Exome Variant Server NRK_000003 1/9524 0/6275 1/3249 - - - - - - -
?/? c.55C>T r.(?) p.(Pro19Ser) g.105066893C>T Copied from the Exome Variant Server NRK_000005 1/9537 1/6288 0/3249 - - - - - - -
?/? c.57+13C>T r.(=) p.(=) g.105066908C>T Copied from the Exome Variant Server NRK_000007 1/9487 1/6241 0/3246 - - - - - - -
?/? c.58-24A>G r.(=) p.(=) g.105075023A>G Copied from the Exome Variant Server NRK_000009 1/9346 1/6340 0/3006 - - - - - - -
?/? c.123+34T>C r.(=) p.(=) g.105075146T>C Copied from the Exome Variant Server NRK_000011 1/9476 1/6372 0/3104 - - - - - - -
?/? c.180+28T>C r.(=) p.(=) g.105124276T>C Copied from the Exome Variant Server NRK_000002 1141/9381 9/6328 1132/3053 - - - - - - -
?/? c.180+36G>A r.(=) p.(=) g.105124284G>A Copied from the Exome Variant Server NRK_000004 1/9335 0/6304 1/3031 - - - - - - -
?/? c.210G>A r.(=) p.(=) g.105125730G>A Copied from the Exome Variant Server NRK_000006 1/9386 1/6323 0/3063 - - - - - - -
?/? c.253-4A>G r.spl? p.? g.105132283A>G Copied from the Exome Variant Server NRK_000008 1/9585 1/6402 0/3183 - - - - - - -
?/? c.355C>T r.(?) p.(Pro119Ser) g.105132389C>T Copied from the Exome Variant Server NRK_000010 25/9615 0/6424 25/3191 - - - - - - -
?/? c.369C>T r.(=) p.(=) g.105132403C>T Copied from the Exome Variant Server NRK_000012 1/9580 0/6413 1/3167 - - - - - - -
?/? c.378+31A>T r.(=) p.(=) g.105132443A>T Copied from the Exome Variant Server NRK_000013 1/9471 0/6377 1/3094 - - - - - - -
?/? c.379-41A>G r.(=) p.(=) g.105137784A>G Copied from the Exome Variant Server NRK_000014 3/9481 3/6385 0/3096 - - - - - - -
?/? c.379-18T>C r.(=) p.(=) g.105137807T>C Copied from the Exome Variant Server NRK_000015 34/9550 0/6410 34/3140 - - - - - - -
?/? c.447A>G r.(=) p.(=) g.105137893A>G Copied from the Exome Variant Server NRK_000016 2/9623 0/6419 2/3204 - - - - - - -
?/? c.461T>C r.(?) p.(Ile154Thr) g.105137907T>C Copied from the Exome Variant Server NRK_000017 1/9615 1/6417 0/3198 - - - - - - -
?/? c.489+15A>G r.(=) p.(=) g.105137950A>G Copied from the Exome Variant Server NRK_000018 1/9521 1/6409 0/3112 - - - - - - -
?/? c.490-238del r.(=) p.(=) g.105139188del Copied from the Exome Variant Server NRK_000019 51/5565 30/3677 21/1888 - - - - - - -
?/? c.490-98G>A r.(=) p.(=) g.105139328G>A Copied from the Exome Variant Server NRK_000020 1/4496 0/3087 1/1409 - - - - - - -
?/? c.490-76_490-70del r.(=) p.(=) g.105139350_105139356del Copied from the Exome Variant Server NRK_000022 237/9004 187/6077 50/2927 - - - - - - -
?/? c.490-69_490-54del r.(=) p.(=) g.105139357_105139372del Copied from the Exome Variant Server NRK_000024 1/8994 1/6084 0/2910 - - - - - - -
?/? c.490-65_490-54del r.(=) p.(=) g.105139361_105139372del Copied from the Exome Variant Server NRK_000026 148/8994 4/6084 144/2910 - - - - - - -
?/? c.490-61_490-54del r.(=) p.(=) g.105139365_105139372del Copied from the Exome Variant Server NRK_000028 48/8994 16/6084 32/2910 - - - - - - -
?/? c.490-61_490-54dup r.(=) p.(=) g.105139365_105139372dup Copied from the Exome Variant Server NRK_000030 35/8994 16/6084 19/2910 - - - - - - -
?/? c.490-57_490-54del r.(=) p.(=) g.105139369_105139372del Copied from the Exome Variant Server NRK_000034 1719/8994 568/6084 1151/2910 - - - - - - -
?/? c.490-57_490-54dup r.(=) p.(=) g.105139369_105139372dup Copied from the Exome Variant Server NRK_000032 1181/8994 897/6084 284/2910 - - - - - - -
?/? c.507C>T r.(=) p.(=) g.105139443C>T Copied from the Exome Variant Server NRK_000036 3/9658 0/6430 3/3228 - - - - - - -
?/? c.573A>T r.(=) p.(=) g.105139509A>T Copied from the Exome Variant Server NRK_000038 4/9633 0/6433 4/3200 - - - - - - -
?/? c.580+10T>C r.(=) p.(=) g.105139526T>C Copied from the Exome Variant Server NRK_000040 1/9587 0/6417 1/3170 - - - - - - -
?/? c.581-16T>C r.(=) p.(=) g.105142561T>C Copied from the Exome Variant Server NRK_000042 1/9543 1/6403 0/3140 - - - - - - -
?/? c.638T>C r.(?) p.(Ile213Thr) g.105142634T>C Copied from the Exome Variant Server NRK_000021 4/9767 2/6462 2/3305 - - - - - - -
?/? c.711+23T>C r.(=) p.(=) g.105142730T>C Copied from the Exome Variant Server NRK_000023 3/9514 0/6392 3/3122 - - - - - - -
?/? c.714T>C r.(=) p.(=) g.105144613T>C Copied from the Exome Variant Server NRK_000025 3/9582 0/6424 3/3158 - - - - - - -
?/? c.766+38G>A r.(=) p.(=) g.105144703G>A Copied from the Exome Variant Server NRK_000027 1/9606 1/6415 0/3191 - - - - - - -
?/? c.766+75C>T r.(=) p.(=) g.105144740C>T Copied from the Exome Variant Server NRK_000029 80/3600 1/2391 79/1209 - - - - - - -
?/? c.767-14A>G r.(=) p.(=) g.105149244A>G Copied from the Exome Variant Server NRK_000031 2/9488 2/6378 0/3110 - - - - - - -
?/? c.841G>A r.(?) p.(Gly281Arg) g.105149332G>A Copied from the Exome Variant Server NRK_000033 1/9558 1/6384 0/3174 - - - - - - -
?/? c.845+11A>T r.(=) p.(=) g.105149347A>T Copied from the Exome Variant Server NRK_000035 1/9578 1/6401 0/3177 - - - - - - -
?/? c.845+37C>T r.(=) p.(=) g.105149373C>T Copied from the Exome Variant Server NRK_000037 16/9573 0/6402 16/3171 - - - - - - -
?/? c.845+43A>G r.(=) p.(=) g.105149379A>G Copied from the Exome Variant Server NRK_000039 2/9567 0/6398 2/3169 - - - - - - -
?/? c.846-31del r.(=) p.(=) g.105150376del Copied from the Exome Variant Server NRK_000041 63/9200 50/6161 13/3039 - - - - - - -
?/? c.846-24T>C r.(=) p.(=) g.105150383T>C Copied from the Exome Variant Server NRK_000043 1/9559 1/6410 0/3149 - - - - - - -
?/? c.881C>T r.(?) p.(Thr294Met) g.105150442C>T Copied from the Exome Variant Server NRK_000044 1/9517 1/6400 0/3117 - - - - - - -
?/? c.1021+36T>C r.(=) p.(=) g.105150618T>C Copied from the Exome Variant Server NRK_000045 35/9238 1/6259 34/2979 - - - - - - -
?/? c.1022-28A>C r.(=) p.(=) g.105152204A>C Copied from the Exome Variant Server NRK_000046 2/8408 0/5590 2/2818 - - - - - - -
?/? c.1060G>C r.(?) p.(Glu354Gln) g.105152270G>C Copied from the Exome Variant Server NRK_000047 1/8937 0/5994 1/2943 - - - - - - -
?/? c.1065G>C r.(?) p.(Gln355His) g.105152275G>C Copied from the Exome Variant Server NRK_000048 5/8946 0/5998 5/2948 - - - - - - -
?/? c.1072G>A r.(?) p.(Val358Met) g.105152282G>A Copied from the Exome Variant Server NRK_000049 3184/8910 1294/5975 1890/2935 - - - - - - -
?/? c.1085+42T>G r.(=) p.(=) g.105152337T>G Copied from the Exome Variant Server NRK_000050 1/8439 1/5631 0/2808 - - - - - - -
?/? c.1086-13G>A r.(=) p.(=) g.105152706G>A Copied from the Exome Variant Server NRK_000051 2/9616 2/6437 0/3179 - - - - - - -
?/? c.1091C>A r.(?) p.(Pro364His) g.105152724C>A Copied from the Exome Variant Server NRK_000052 2/9700 2/6459 0/3241 - - - - - - -
?/? c.1104C>T r.(=) p.(=) g.105152737C>T Copied from the Exome Variant Server NRK_000053 6/9759 0/6474 6/3285 - - - - - - -
?/? c.1234G>A r.(?) p.(Ala412Thr) g.105152867G>A Copied from the Exome Variant Server NRK_000054 4/10153 0/6575 4/3578 - - - - - - -
?/? c.1238C>T r.(?) p.(Ala413Val) g.105152871C>T Copied from the Exome Variant Server NRK_000055 2/10146 0/6574 2/3572 - - - - - - -
?/? c.1295A>G r.(?) p.(Gln432Arg) g.105152928A>G Copied from the Exome Variant Server NRK_000056 1/10055 1/6527 0/3528 - - - - - - -
?/? c.1313G>A r.(?) p.(Arg438Gln) g.105152946G>A Copied from the Exome Variant Server NRK_000057 30/10069 0/6528 30/3541 - - - - - - -
?/? c.1406C>T r.(?) p.(Pro469Leu) g.105153039C>T Copied from the Exome Variant Server NRK_000058 1/10058 0/6534 1/3524 - - - - - - -
?/? c.1464T>A r.(=) p.(=) g.105153097T>A Copied from the Exome Variant Server NRK_000059 1/10034 1/6548 0/3486 - - - - - - -
?/? c.1533A>G r.(=) p.(=) g.105153166A>G Copied from the Exome Variant Server NRK_000060 5/9922 5/6508 0/3414 - - - - - - -
?/? c.1539G>T r.(?) p.(Leu513Phe) g.105153172G>T Copied from the Exome Variant Server NRK_000061 4/9917 0/6507 4/3410 - - - - - - -
?/? c.1629C>T r.(=) p.(=) g.105153262C>T Copied from the Exome Variant Server NRK_000062 13/9961 0/6510 13/3451 - - - - - - -
?/? c.1673A>G r.(?) p.(Gln558Arg) g.105153306A>G Copied from the Exome Variant Server NRK_000063 2/9986 0/6520 2/3466 - - - - - - -
?/? c.1715A>T r.(?) p.(Glu572Val) g.105153348A>T Copied from the Exome Variant Server NRK_000064 1/10001 1/6525 0/3476 - - - - - - -
?/? c.1736A>G r.(?) p.(Glu579Gly) g.105153369A>G Copied from the Exome Variant Server NRK_000065 2/10009 1/6519 1/3490 - - - - - - -
?/? c.1797G>A r.(=) p.(=) g.105153430G>A Copied from the Exome Variant Server NRK_000066 1/9936 0/6518 1/3418 - - - - - - -
?/? c.1831C>T r.(?) p.(Pro611Ser) g.105153464C>T Copied from the Exome Variant Server NRK_000067 1/9936 1/6514 0/3422 - - - - - - -
?/? c.1870G>C r.(?) p.(Ala624Pro) g.105153503G>C Copied from the Exome Variant Server NRK_000068 1/9904 0/6503 1/3401 - - - - - - -
?/? c.1886C>A r.(?) p.(Pro629His) g.105153519C>A Copied from the Exome Variant Server NRK_000069 1/9812 1/6475 0/3337 - - - - - - -
?/? c.1924G>C r.(?) p.(Gly642Arg) g.105153557G>C Copied from the Exome Variant Server NRK_000070 1/9686 0/6433 1/3253 - - - - - - -
?/? c.1936G>C r.(?) p.(Asp646His) g.105153569G>C Copied from the Exome Variant Server NRK_000071 1/9675 0/6432 1/3243 - - - - - - -
?/? c.1946G>A r.(?) p.(Arg649Gln) g.105153579G>A Copied from the Exome Variant Server NRK_000072 1/9642 1/6425 0/3217 - - - - - - -
?/? c.1983G>A r.(=) p.(=) g.105153616G>A Copied from the Exome Variant Server NRK_000073 1/9595 1/6399 0/3196 - - - - - - -
?/? c.1992C>A r.(=) p.(=) g.105153625C>A Copied from the Exome Variant Server NRK_000074 1/9593 1/6397 0/3196 - - - - - - -
?/? c.2016T>C r.(=) p.(=) g.105153649T>C Copied from the Exome Variant Server NRK_000075 1/9565 1/6387 0/3178 - - - - - - -
?/? c.2045G>A r.(?) p.(Arg682Gln) g.105153678G>A Copied from the Exome Variant Server NRK_000076 2/9508 0/6380 2/3128 - - - - - - -
?/? c.2180G>A r.(?) p.(Arg727His) g.105153813G>A Copied from the Exome Variant Server NRK_000077 207/9592 2/6411 205/3181 - - - - - - -
?/? c.2302C>G r.(?) p.(Gln768Glu) g.105156700C>G Copied from the Exome Variant Server NRK_000078 9/9421 8/6353 1/3068 - - - - - - -
?/? c.2350-51G>C r.(=) p.(=) g.105159671G>C Copied from the Exome Variant Server NRK_000079 1/4898 1/3248 0/1650 - - - - - - -
?/? c.2350-18T>C r.(=) p.(=) g.105159704T>C Copied from the Exome Variant Server NRK_000080 1/9501 1/6371 0/3130 - - - - - - -
?/? c.2365C>T r.(?) p.(Pro789Ser) g.105159737C>T Copied from the Exome Variant Server NRK_000081 34/9526 26/6378 8/3148 - - - - - - -
?/? c.2377A>C r.(?) p.(Asn793His) g.105159749A>C Copied from the Exome Variant Server NRK_000082 1/9529 0/6377 1/3152 - - - - - - -
?/? c.2395C>T r.(?) p.(His799Tyr) g.105159767C>T Copied from the Exome Variant Server NRK_000083 2/9524 2/6380 0/3144 - - - - - - -
?/? c.2419G>A r.(?) p.(Val807Ile) g.105161571G>A Copied from the Exome Variant Server NRK_000084 2/9623 1/6426 1/3197 - - - - - - -
?/? c.2513-26A>C r.(=) p.(=) g.105165930A>C Copied from the Exome Variant Server NRK_000085 1/9519 0/6385 1/3134 - - - - - - -
?/? c.2554T>A r.(?) p.(Ser852Thr) g.105165997T>A Copied from the Exome Variant Server NRK_000086 4/9638 0/6431 4/3207 - - - - - - -
?/? c.2701C>T r.(?) p.(Arg901Trp) g.105167200C>T Copied from the Exome Variant Server NRK_000087 1/9787 0/6467 1/3320 - - - - - - -
?/? c.2708A>T r.(?) p.(Asp903Val) g.105167207A>T Copied from the Exome Variant Server NRK_000088 2/9890 2/6484 0/3406 - - - - - - -
?/? c.2720C>T r.(?) p.(Pro907Leu) g.105167219C>T Copied from the Exome Variant Server NRK_000089 1/9925 1/6491 0/3434 - - - - - - -
?/? c.2723_2737del r.(?) p.(Val910_Pro914del) g.105167222_105167236del Copied from the Exome Variant Server NRK_000090 20/9565 10/6241 10/3324 - - - - - - -
?/? c.2780G>A r.(?) p.(Ser927Asn) g.105167279G>A Copied from the Exome Variant Server NRK_000091 1/10125 1/6562 0/3563 - - - - - - -
?/? c.2801A>G r.(?) p.(Asp934Gly) g.105167300A>G Copied from the Exome Variant Server NRK_000092 4/10136 0/6559 4/3577 - - - - - - -
?/? c.2886T>C r.(=) p.(=) g.105167385T>C Copied from the Exome Variant Server NRK_000093 2/9366 0/6166 2/3200 - - - - - - -
?/? c.2912A>G r.(?) p.(Asp971Gly) g.105167411A>G Copied from the Exome Variant Server NRK_000094 26/8847 25/5849 1/2998 - - - - - - -
?/? c.2918A>G r.(?) p.(Asn973Ser) g.105167417A>G Copied from the Exome Variant Server NRK_000095 2/8689 2/5775 0/2914 - - - - - - -
?/? c.2936A>C r.(?) p.(Asp979Ala) g.105167435A>C Copied from the Exome Variant Server NRK_000096 1/8184 1/5438 0/2746 - - - - - - -
?/? c.2961G>A r.(=) p.(=) g.105167460G>A Copied from the Exome Variant Server NRK_000097 6/7611 0/5074 6/2537 - - - - - - -
?/? c.2975+21_2975+22del r.(=) p.(=) g.105167495_105167496del Copied from the Exome Variant Server NRK_000098 1/6844 0/4538 1/2306 - - - - - - -
?/? c.2976-35G>A r.(=) p.(=) g.105168652G>A Copied from the Exome Variant Server NRK_000099 1/9663 1/6445 0/3218 - - - - - - -
?/? c.2978C>A r.(?) p.(Ala993Glu) g.105168689C>A Copied from the Exome Variant Server NRK_000100 1214/9796 9/6507 1205/3289 - - - - - - -
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