Full data view for gene ANKRD6

Information The variants shown are described using the NM_001242809.1 transcript reference sequence.

155 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.-30G>A r.(=) p.(=) g.90276666G>A Copied from the Exome Variant Server ANKRD6_000001 1/12184 1/8280 0/3904 - - - - - - -
?/? c.18G>A r.(=) p.(=) g.90276713G>A Copied from the Exome Variant Server ANKRD6_000002 1/12246 0/8308 1/3938 - - - - - - -
?/? c.22G>A r.(?) p.(Ala8Thr) g.90276717G>A Copied from the Exome Variant Server ANKRD6_000003 1/12236 1/8302 0/3934 - - - - - - -
?/? c.37C>T r.(?) p.(Arg13Cys) g.90276732C>T Copied from the Exome Variant Server ANKRD6_000004 1/12262 1/8322 0/3940 - - - - - - -
?/? c.38G>A r.(?) p.(Arg13His) g.90276733G>A Copied from the Exome Variant Server ANKRD6_000005 11/12276 11/8322 0/3954 - - - - - - -
?/? c.54G>A r.(=) p.(=) g.90276749G>A Copied from the Exome Variant Server ANKRD6_000006 1/12264 1/8324 0/3940 - - - - - - -
?/? c.114T>C r.(=) p.(=) g.90276809T>C Copied from the Exome Variant Server ANKRD6_000007 3/12106 0/8258 3/3848 - - - - - - -
?/? c.120+18C>T r.(=) p.(=) g.90276833C>T Copied from the Exome Variant Server ANKRD6_000008 1/12026 1/8230 0/3796 - - - - - - -
?/? c.121-38G>T r.(=) p.(=) g.90305597G>T Copied from the Exome Variant Server ANKRD6_000009 1/12360 0/8346 1/4014 - - - - - - -
?/? c.121-29C>T r.(=) p.(=) g.90305606C>T Copied from the Exome Variant Server ANKRD6_000010 37/12370 21/8346 16/4024 - - - - - - -
?/? c.121C>T r.(?) p.(His41Tyr) g.90305635C>T Copied from the Exome Variant Server ANKRD6_000011 1/12464 1/8368 0/4096 - - - - - - -
?/? c.205G>A r.(?) p.(Asp69Asn) g.90305719G>A Copied from the Exome Variant Server ANKRD6_000012 1/12512 1/8408 0/4104 - - - - - - -
?/? c.219+13C>T r.(=) p.(=) g.90305746C>T Copied from the Exome Variant Server ANKRD6_000013 1/12400 0/8388 1/4012 - - - - - - -
?/? c.219+41G>A r.(=) p.(=) g.90305774G>A Copied from the Exome Variant Server ANKRD6_000014 1/12324 0/8346 1/3978 - - - - - - -
?/? c.219+45G>A r.(=) p.(=) g.90305778G>A Copied from the Exome Variant Server ANKRD6_000015 1/12336 1/8350 0/3986 - - - - - - -
?/? c.241C>T r.(?) p.(Arg81Trp) g.90312769C>T Copied from the Exome Variant Server ANKRD6_000016 1/12674 0/8440 1/4234 - - - - - - -
?/? c.278C>T r.(?) p.(Ala93Val) g.90312806C>T Copied from the Exome Variant Server ANKRD6_000017 2/12616 1/8416 1/4200 - - - - - - -
?/? c.308G>A r.(?) p.(Arg103Lys) g.90312836G>A Copied from the Exome Variant Server ANKRD6_000018 1/12542 1/8390 0/4152 - - - - - - -
?/? c.318+17C>T r.(=) p.(=) g.90312863C>T Copied from the Exome Variant Server ANKRD6_000019 1380/12480 1264/8370 116/4110 - - - - - - -
?/? c.318+46A>G r.(=) p.(=) g.90312892A>G Copied from the Exome Variant Server ANKRD6_000020 33/12190 2/8268 31/3922 - - - - - - -
?/? c.364C>G r.(?) p.(Gln122Glu) g.90315771C>G Copied from the Exome Variant Server ANKRD6_000021 408/12472 177/8396 231/4076 - - - - - - -
?/? c.369A>G r.(=) p.(=) g.90315776A>G Copied from the Exome Variant Server ANKRD6_000022 72/12484 0/8392 72/4092 - - - - - - -
?/? c.373A>C r.(?) p.(Lys125Gln) g.90315780A>C Copied from the Exome Variant Server ANKRD6_000023 2/12488 0/8392 2/4096 - - - - - - -
?/? c.382A>G r.(?) p.(Ile128Val) g.90315789A>G Copied from the Exome Variant Server ANKRD6_000024 10027/12508 7075/8390 2952/4118 - - - - - - -
?/? c.388G>A r.(?) p.(Ala130Thr) g.90315795G>A Copied from the Exome Variant Server ANKRD6_000025 1/12526 1/8398 0/4128 - - - - - - -
?/? c.400G>A r.(?) p.(Val134Met) g.90315807G>A Copied from the Exome Variant Server ANKRD6_000026 1/12542 1/8398 0/4144 - - - - - - -
?/? c.417+5G>C r.spl? p.? g.90315829G>C Copied from the Exome Variant Server ANKRD6_000027 1/12530 1/8402 0/4128 - - - - - - -
?/? c.417+40G>T r.(=) p.(=) g.90315864G>T Copied from the Exome Variant Server ANKRD6_000028 1/12316 1/8322 0/3994 - - - - - - -
?/? c.418-36G>A r.(=) p.(=) g.90321955G>A Copied from the Exome Variant Server ANKRD6_000029 3127/12352 2392/8260 735/4092 - - - - - - -
?/? c.418-29T>C r.(=) p.(=) g.90321962T>C Copied from the Exome Variant Server ANKRD6_000030 1/12382 1/8284 0/4098 - - - - - - -
?/? c.449_452del r.(?) p.(Gln150Profs*67) g.90322022_90322025del Copied from the Exome Variant Server ANKRD6_000031 40/11596 25/7862 15/3734 - - - - - - -
?/? c.471G>A r.(=) p.(=) g.90322044G>A Copied from the Exome Variant Server ANKRD6_000032 3/12296 3/8288 0/4008 - - - - - - -
?/? c.489C>T r.(=) p.(=) g.90322062C>T Copied from the Exome Variant Server ANKRD6_000033 1/12266 1/8284 0/3982 - - - - - - -
?/? c.497G>A r.(?) p.(Arg166His) g.90322070G>A Copied from the Exome Variant Server ANKRD6_000034 2/12208 0/8256 2/3952 - - - - - - -
?/? c.507C>A r.(=) p.(=) g.90322080C>A Copied from the Exome Variant Server ANKRD6_000035 1/12142 1/8242 0/3900 - - - - - - -
?/? c.516+10C>T r.(=) p.(=) g.90322099C>T Copied from the Exome Variant Server ANKRD6_000036 3/12062 3/8184 0/3878 - - - - - - -
?/? c.516+36T>C r.(=) p.(=) g.90322125T>C Copied from the Exome Variant Server ANKRD6_000037 28/11732 24/7992 4/3740 - - - - - - -
?/? c.516+41G>T r.(=) p.(=) g.90322130G>T Copied from the Exome Variant Server ANKRD6_000038 1/11640 0/7930 1/3710 - - - - - - -
?/? c.538G>A r.(?) p.(Val180Ile) g.90323532G>A Copied from the Exome Variant Server ANKRD6_000039 2/12322 2/8332 0/3990 - - - - - - -
?/? c.546G>A r.(=) p.(=) g.90323540G>A Copied from the Exome Variant Server ANKRD6_000040 1/12326 0/8342 1/3984 - - - - - - -
?/? c.547C>T r.(?) p.(Arg183Cys) g.90323541C>T Copied from the Exome Variant Server ANKRD6_000041 2/12326 0/8342 2/3984 - - - - - - -
?/? c.574C>T r.(?) p.(Leu192Phe) g.90323568C>T Copied from the Exome Variant Server ANKRD6_000042 2/12382 2/8356 0/4026 - - - - - - -
?/? c.615+11G>A r.(=) p.(=) g.90323620G>A Copied from the Exome Variant Server ANKRD6_000043 2/12388 0/8346 2/4042 - - - - - - -
?/? c.615+15T>C r.(=) p.(=) g.90323624T>C Copied from the Exome Variant Server ANKRD6_000044 2828/12372 1632/8350 1196/4022 - - - - - - -
?/? c.616-35A>G r.(=) p.(=) g.90326243A>G Copied from the Exome Variant Server ANKRD6_000045 1/12242 1/8316 0/3926 - - - - - - -
?/? c.616-15T>C r.(=) p.(=) g.90326263T>C Copied from the Exome Variant Server ANKRD6_000046 1/12292 1/8320 0/3972 - - - - - - -
?/? c.626C>T r.(?) p.(Thr209Ile) g.90326288C>T Copied from the Exome Variant Server ANKRD6_000048 1/12344 1/8358 0/3986 - - - - - - -
?/? c.688G>A r.(?) p.(Gly230Arg) g.90326350G>A Copied from the Exome Variant Server ANKRD6_000050 1/12412 1/8370 0/4042 - - - - - - -
?/? c.698C>T r.(?) p.(Thr233Met) g.90326360C>T Copied from the Exome Variant Server ANKRD6_000052 1389/12402 326/8372 1063/4030 - - - - - - -
?/? c.715-50G>A r.(=) p.(=) g.90327623G>A Copied from the Exome Variant Server ANKRD6_000054 17/12888 16/8514 1/4374 - - - - - - -
?/? c.715-45G>A r.(=) p.(=) g.90327628G>A Copied from the Exome Variant Server ANKRD6_000047 1/12880 1/8516 0/4364 - - - - - - -
?/? c.715-42del r.(=) p.(=) g.90327631del Copied from the Exome Variant Server ANKRD6_000049 26/12360 19/8154 7/4206 - - - - - - -
?/? c.729G>A r.(=) p.(=) g.90327687G>A Copied from the Exome Variant Server ANKRD6_000051 1/12570 1/8424 0/4146 - - - - - - -
?/? c.744C>A r.(=) p.(=) g.90327702C>A Copied from the Exome Variant Server ANKRD6_000053 15/12422 0/8364 15/4058 - - - - - - -
?/? c.756C>G r.(?) p.(Asn252Lys) g.90327714C>G Copied from the Exome Variant Server ANKRD6_000055 1/12334 1/8342 0/3992 - - - - - - -
?/? c.785C>G r.(?) p.(Ala262Gly) g.90327743C>G Copied from the Exome Variant Server ANKRD6_000056 3/12124 3/8250 0/3874 - - - - - - -
?/? c.792+37C>T r.(=) p.(=) g.90327787C>T Copied from the Exome Variant Server ANKRD6_000057 1/11968 1/8220 0/3748 - - - - - - -
?/? c.793-40G>A r.(=) p.(=) g.90331601G>A Copied from the Exome Variant Server ANKRD6_000058 5/12474 2/8384 3/4090 - - - - - - -
?/? c.793-31_793-30insG r.(=) p.(=) g.90331610_90331611insG Copied from the Exome Variant Server ANKRD6_000059 1/11934 1/8026 0/3908 - - - - - - -
?/? c.793-16C>T r.(=) p.(=) g.90331625C>T Copied from the Exome Variant Server ANKRD6_000060 1/12430 1/8386 0/4044 - - - - - - -
?/? c.814C>T r.(?) p.(Arg272*) g.90331662C>T Copied from the Exome Variant Server ANKRD6_000061 1/12332 1/8324 0/4008 - - - - - - -
?/? c.820C>T r.(=) p.(=) g.90331668C>T Copied from the Exome Variant Server ANKRD6_000062 6/12292 6/8304 0/3988 - - - - - - -
?/? c.845A>G r.(?) p.(Lys282Arg) g.90331693A>G Copied from the Exome Variant Server ANKRD6_000063 1/12314 0/8324 1/3990 - - - - - - -
?/? c.864G>A r.(=) p.(=) g.90331712G>A Copied from the Exome Variant Server ANKRD6_000064 7/12340 7/8324 0/4016 - - - - - - -
?/? c.897+8G>A r.(=) p.(=) g.90331753G>A Copied from the Exome Variant Server ANKRD6_000065 1/12334 1/8312 0/4022 - - - - - - -
?/? c.897+40G>C r.(=) p.(=) g.90331785G>C Copied from the Exome Variant Server ANKRD6_000066 6/12324 0/8304 6/4020 - - - - - - -
?/? c.898-25G>A r.(=) p.(=) g.90333104G>A Copied from the Exome Variant Server ANKRD6_000067 18/11862 0/8180 18/3682 - - - - - - -
?/? c.898-23C>A r.(=) p.(=) g.90333106C>A Copied from the Exome Variant Server ANKRD6_000068 87/11858 1/8176 86/3682 - - - - - - -
?/? c.930T>A r.(?) p.(Ser310Arg) g.90333161T>A Copied from the Exome Variant Server ANKRD6_000069 8/11958 8/8218 0/3740 - - - - - - -
?/? c.947G>T r.(?) p.(Arg316Ile) g.90333178G>T Copied from the Exome Variant Server ANKRD6_000070 1/12012 1/8236 0/3776 - - - - - - -
?/? c.986C>T r.(?) p.(Pro329Leu) g.90333217C>T Copied from the Exome Variant Server ANKRD6_000071 1/12140 1/8272 0/3868 - - - - - - -
?/? c.1009A>C r.(=) p.(=) g.90333240A>C Copied from the Exome Variant Server ANKRD6_000072 33/12272 0/8312 33/3960 - - - - - - -
?/? c.1032+23C>A r.(=) p.(=) g.90333286C>A Copied from the Exome Variant Server ANKRD6_000073 89/12356 1/8334 88/4022 - - - - - - -
?/? c.1032+27A>G r.(=) p.(=) g.90333290A>G Copied from the Exome Variant Server ANKRD6_000074 10/12368 0/8334 10/4034 - - - - - - -
?/? c.1032+52G>A r.(=) p.(=) g.90333315G>A Copied from the Exome Variant Server ANKRD6_000075 1/6718 1/4400 0/2318 - - - - - - -
?/? c.1033-46G>A r.(=) p.(=) g.90333545G>A Copied from the Exome Variant Server ANKRD6_000076 1/12648 1/8466 0/4182 - - - - - - -
?/? c.1033-32G>A r.(=) p.(=) g.90333559G>A Copied from the Exome Variant Server ANKRD6_000077 2/12698 2/8486 0/4212 - - - - - - -
?/? c.1033-27G>C r.(=) p.(=) g.90333564G>C Copied from the Exome Variant Server ANKRD6_000078 1/12726 1/8492 0/4234 - - - - - - -
?/? c.1033-24G>T r.(=) p.(=) g.90333567G>T Copied from the Exome Variant Server ANKRD6_000079 3/12744 3/8494 0/4250 - - - - - - -
?/? c.1033-15C>T r.(=) p.(=) g.90333576C>T Copied from the Exome Variant Server ANKRD6_000080 1/12742 1/8494 0/4248 - - - - - - -
?/? c.1033-13T>C r.(=) p.(=) g.90333578T>C Copied from the Exome Variant Server ANKRD6_000081 1/12746 1/8494 0/4252 - - - - - - -
?/? c.1041A>G r.(=) p.(=) g.90333599A>G Copied from the Exome Variant Server ANKRD6_000082 10858/12748 7110/8496 3748/4252 - - - - - - -
?/? c.1066G>A r.(?) p.(Asp356Asn) g.90333624G>A Copied from the Exome Variant Server ANKRD6_000083 2/12702 2/8478 0/4224 - - - - - - -
?/? c.1118A>G r.(?) p.(Lys373Arg) g.90333676A>G Copied from the Exome Variant Server ANKRD6_000084 1/12596 1/8438 0/4158 - - - - - - -
?/? c.1133G>A r.(?) p.(Arg378Gln) g.90333691G>A Copied from the Exome Variant Server ANKRD6_000085 2/12606 2/8422 0/4184 - - - - - - -
?/? c.1145C>T r.(?) p.(Pro382Leu) g.90333703C>T Copied from the Exome Variant Server ANKRD6_000086 1/12562 1/8402 0/4160 - - - - - - -
?/? c.1158T>C r.(=) p.(=) g.90333716T>C Copied from the Exome Variant Server ANKRD6_000087 1/12448 1/8380 0/4068 - - - - - - -
?/? c.1164C>G r.(?) p.(Phe388Leu) g.90333722C>G Copied from the Exome Variant Server ANKRD6_000088 1/12454 0/8378 1/4076 - - - - - - -
?/? c.1169C>T r.(?) p.(Ala390Val) g.90333727C>T Copied from the Exome Variant Server ANKRD6_000089 3/12460 1/8384 2/4076 - - - - - - -
?/? c.1170G>A r.(=) p.(=) g.90333728G>A Copied from the Exome Variant Server ANKRD6_000090 2/12472 2/8390 0/4082 - - - - - - -
?/? c.1176G>A r.(=) p.(=) g.90333734G>A Copied from the Exome Variant Server ANKRD6_000091 1/12456 1/8374 0/4082 - - - - - - -
?/? c.1192C>G r.(?) p.(Arg398Gly) g.90333750C>G Copied from the Exome Variant Server ANKRD6_000092 1/12410 1/8354 0/4056 - - - - - - -
?/? c.1218+20A>G r.(=) p.(=) g.90333796A>G Copied from the Exome Variant Server ANKRD6_000093 1/12384 1/8342 0/4042 - - - - - - -
?/? c.1218+33A>G r.(=) p.(=) g.90333809A>G Copied from the Exome Variant Server ANKRD6_000095 699/12396 288/8348 411/4048 - - - - - - -
?/? c.1224A>G r.(=) p.(=) g.90334263A>G Copied from the Exome Variant Server ANKRD6_000097 1/11740 1/8010 0/3730 - - - - - - -
?/? c.1233T>C r.(=) p.(=) g.90334272T>C Copied from the Exome Variant Server ANKRD6_000099 1/11852 1/8112 0/3740 - - - - - - -
?/? c.1305G>A r.(=) p.(=) g.90334344G>A Copied from the Exome Variant Server ANKRD6_000101 1/12092 1/8260 0/3832 - - - - - - -
?/? c.1314G>A r.(=) p.(=) g.90334353G>A Copied from the Exome Variant Server ANKRD6_000103 1/12082 1/8250 0/3832 - - - - - - -
?/? c.1324A>C r.(?) p.(Lys442Gln) g.90334363A>C Copied from the Exome Variant Server ANKRD6_000105 3/12080 3/8254 0/3826 - - - - - - -
?/? c.1361C>T r.(?) p.(Thr454Ile) g.90334400C>T Copied from the Exome Variant Server ANKRD6_000106 1/12180 1/8290 0/3890 - - - - - - -
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