Full data view for gene KCNK16

Information The variants shown are described using the NM_032115.3 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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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.37C>T r.(?) p.(Arg13Trp) g.39290280G>A Copied from the Exome Variant Server KCNK16_000070 1/13002 1/8598 0/4404 - - - - - - -
?/? c.117G>A r.(=) p.(=) g.39290200C>T Copied from the Exome Variant Server KCNK16_000069 5481/13006 3304/8600 2177/4406 - - - - - - -
?/? c.165G>A r.(=) p.(=) g.39290152C>T Copied from the Exome Variant Server KCNK16_000068 17/13006 12/8600 5/4406 - - - - - - -
?/? c.174C>T r.(=) p.(=) g.39290143G>A Copied from the Exome Variant Server KCNK16_000067 12/13006 12/8600 0/4406 - - - - - - -
?/? c.176C>T r.(?) p.(Thr59Ile) g.39290141G>A Copied from the Exome Variant Server KCNK16_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.186C>T r.(=) p.(=) g.39290131G>A Copied from the Exome Variant Server KCNK16_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.189G>A r.(=) p.(=) g.39290128C>T Copied from the Exome Variant Server KCNK16_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.213+8G>T r.(=) p.(=) g.39290096C>A Copied from the Exome Variant Server KCNK16_000063 9/13006 9/8600 0/4406 - - - - - - -
?/? c.213+12C>T r.(=) p.(=) g.39290092G>A Copied from the Exome Variant Server KCNK16_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.214-49del r.(=) p.(=) g.39286958del Copied from the Exome Variant Server KCNK16_000061 304/12518 25/8254 279/4264 - - - - - - -
?/? c.214-43C>A r.(=) p.(=) g.39286952G>T Copied from the Exome Variant Server KCNK16_000060 308/13006 23/8600 285/4406 - - - - - - -
?/? c.214-39C>T r.(=) p.(=) g.39286948G>A Copied from the Exome Variant Server KCNK16_000059 313/13006 25/8600 288/4406 - - - - - - -
?/? c.214-23C>T r.(=) p.(=) g.39286932G>A Copied from the Exome Variant Server KCNK16_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.254_255del r.(?) p.(Gly85Glufs*51) g.39286868_39286869del Copied from the Exome Variant Server KCNK16_000057 11/12518 11/8254 0/4264 - - - - - - -
?/? c.261T>C r.(=) p.(=) g.39286862A>G Copied from the Exome Variant Server KCNK16_000056 332/13006 231/8600 101/4406 - - - - - - -
?/? c.280G>A r.(?) p.(Asp94Asn) g.39286843C>T Copied from the Exome Variant Server KCNK16_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.302T>C r.(?) p.(Phe101Ser) g.39286821A>G Copied from the Exome Variant Server KCNK16_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.303T>C r.(=) p.(=) g.39286820A>G Copied from the Exome Variant Server KCNK16_000053 332/13006 231/8600 101/4406 - - - - - - -
?/? c.306A>G r.(=) p.(=) g.39286817T>C Copied from the Exome Variant Server KCNK16_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.328+47G>C r.(=) p.(=) g.39286748C>G Copied from the Exome Variant Server KCNK16_000050 2/13006 2/8600 0/4406 - - - - - - -
?/? c.328+52G>A r.(=) p.(=) g.39286743C>T Copied from the Exome Variant Server KCNK16_000048 4/5734 4/3982 0/1752 - - - - - - -
?/? c.329-45C>T r.(=) p.(=) g.39285773G>A Copied from the Exome Variant Server KCNK16_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.329-44G>C r.(=) p.(=) g.39285772C>G Copied from the Exome Variant Server KCNK16_000044 3/13006 0/8600 3/4406 - - - - - - -
?/? c.329-19C>T r.(=) p.(=) g.39285747G>A Copied from the Exome Variant Server KCNK16_000042 10/13006 9/8600 1/4406 - - - - - - -
?/? c.329-13C>T r.(=) p.(=) g.39285741G>A Copied from the Exome Variant Server KCNK16_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.331T>A r.(?) p.(Tyr111Asn) g.39285726A>T Copied from the Exome Variant Server KCNK16_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.409G>A r.(?) p.(Val137Met) g.39285648C>T Copied from the Exome Variant Server KCNK16_000047 10/13006 9/8600 1/4406 - - - - - - -
?/? c.436G>A r.(?) p.(Gly146Arg) g.39285621C>T Copied from the Exome Variant Server KCNK16_000045 3/13006 3/8600 0/4406 - - - - - - -
?/? c.444T>C r.(=) p.(=) g.39285613A>G Copied from the Exome Variant Server KCNK16_000043 2/13006 0/8600 2/4406 - - - - - - -
?/? c.456C>T r.(=) p.(=) g.39285601G>A Copied from the Exome Variant Server KCNK16_000041 4/13006 0/8600 4/4406 - - - - - - -
?/? c.476A>C r.(?) p.(Asp159Ala) g.39285581T>G Copied from the Exome Variant Server KCNK16_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.479G>A r.(?) p.(Arg160His) g.39285578C>T Copied from the Exome Variant Server KCNK16_000039 4/13004 3/8598 1/4406 - - - - - - -
?/? c.483C>T r.(=) p.(=) g.39285574G>A Copied from the Exome Variant Server KCNK16_000038 28/13004 26/8598 2/4406 - - - - - - -
?/? c.487C>T r.(?) p.(Arg163Cys) g.39285570G>A Copied from the Exome Variant Server KCNK16_000037 28/13004 25/8598 3/4406 - - - - - - -
?/? c.514C>G r.(?) p.(Leu172Val) g.39284705G>C Copied from the Exome Variant Server KCNK16_000036 19/13006 18/8600 1/4406 - - - - - - -
?/? c.554T>C r.(?) p.(Ile185Thr) g.39284665A>G Copied from the Exome Variant Server KCNK16_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.600C>T r.(=) p.(=) g.39284619G>A Copied from the Exome Variant Server KCNK16_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.603G>C r.(?) p.(Glu201Asp) g.39284616C>G Copied from the Exome Variant Server KCNK16_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.622A>C r.(?) p.(Ile208Leu) g.39284597T>G Copied from the Exome Variant Server KCNK16_000032 33/13006 32/8600 1/4406 - - - - - - -
?/? c.624C>T r.(=) p.(=) g.39284595G>A Copied from the Exome Variant Server KCNK16_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.645T>C r.(=) p.(=) g.39284574A>G Copied from the Exome Variant Server KCNK16_000030 288/13006 25/8600 263/4406 - - - - - - -
?/? c.661+15del r.(=) p.(=) g.39284543del Copied from the Exome Variant Server KCNK16_000029 1/12518 1/8254 0/4264 - - - - - - -
?/? c.661+36G>A r.(=) p.(=) g.39284522C>T Copied from the Exome Variant Server KCNK16_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.662-32C>A r.(=) p.(=) g.39284250G>T Copied from the Exome Variant Server KCNK16_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.662-12C>T r.(=) p.(=) g.39284230G>A Copied from the Exome Variant Server KCNK16_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.666A>G r.(=) p.(=) g.39284214T>C Copied from the Exome Variant Server KCNK16_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.696T>C r.(=) p.(=) g.39284184A>G Copied from the Exome Variant Server KCNK16_000024 8222/13006 4321/8600 3901/4406 - - - - - - -
?/? c.706G>A r.(?) p.(Ala236Thr) g.39284174C>T Copied from the Exome Variant Server KCNK16_000023 1/13004 1/8600 0/4404 - - - - - - -
?/? c.735G>A r.(=) p.(=) g.39284145C>T Copied from the Exome Variant Server KCNK16_000022 3/13006 0/8600 3/4406 - - - - - - -
?/? c.759G>T r.(=) p.(=) g.39284121C>A Copied from the Exome Variant Server KCNK16_000021 1/13002 1/8598 0/4404 - - - - - - -
?/? c.802+15G>A r.(=) p.(=) g.39284063C>T Copied from the Exome Variant Server KCNK16_000020 54/12976 50/8584 4/4392 - - - - - - -
?/? c.802+28C>A r.(=) p.(=) g.39284050G>T Copied from the Exome Variant Server KCNK16_000019 7938/12956 4293/8578 3645/4378 - - - - - - -
?/? c.802+98del r.(=) p.(=) g.39283980del Copied from the Exome Variant Server KCNK16_000018 169/9058 95/6314 74/2744 - - - - - - -
?/? c.802+98dup r.(=) p.(=) g.39283980dup Copied from the Exome Variant Server KCNK16_000017 151/9058 109/6314 42/2744 - - - - - - -
?/? c.802+101del r.(=) p.(=) g.39283977del Copied from the Exome Variant Server KCNK16_000016 152/9324 132/6478 20/2846 - - - - - - -
?/? c.803-295C>G r.(=) p.(=) g.39283200G>C Copied from the Exome Variant Server KCNK16_000015 4/4566 0/3182 4/1384 - - - - - - -
?/? c.803-184C>T r.(=) p.(=) g.39283089G>A Copied from the Exome Variant Server KCNK16_000014 6/4566 0/3182 6/1384 - - - - - - -
?/? c.803-178C>T r.(=) p.(=) g.39283083G>A Copied from the Exome Variant Server KCNK16_000013 2720/4566 1579/3182 1141/1384 - - - - - - -
?/? c.803-175C>T r.(=) p.(=) g.39283080G>A Copied from the Exome Variant Server KCNK16_000012 1/4566 1/3182 0/1384 - - - - - - -
?/? c.803-174T>C r.(=) p.(=) g.39283079A>G Copied from the Exome Variant Server KCNK16_000011 18/4566 15/3182 3/1384 - - - - - - -
?/? c.803-134C>G r.(=) p.(=) g.39283039G>C Copied from the Exome Variant Server KCNK16_000010 90/4566 12/3182 78/1384 - - - - - - -
?/? c.803-108C>T r.(=) p.(=) g.39283013G>A Copied from the Exome Variant Server KCNK16_000009 1/4566 1/3182 0/1384 - - - - - - -
?/? c.803-19G>T r.(=) p.(=) g.39282924C>A Copied from the Exome Variant Server KCNK16_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.831G>A r.(=) p.(=) g.39282877C>T Copied from the Exome Variant Server KCNK16_000007 269/13006 24/8600 245/4406 - - - - - - -
?/? c.837A>G r.(=) p.(=) g.39282871T>C Copied from the Exome Variant Server KCNK16_000006 4/13006 0/8600 4/4406 - - - - - - -
?/? c.892C>T r.(?) p.(Gln298*) g.39282816G>A Copied from the Exome Variant Server KCNK16_000005 24/13006 21/8600 3/4406 - - - - - - -
?/? c.895G>C r.(?) p.(Asp299His) g.39282813C>G Copied from the Exome Variant Server KCNK16_000004 4/13006 0/8600 4/4406 - - - - - - -
?/? c.902C>A r.(?) p.(Pro301His) g.39282806G>T Copied from the Exome Variant Server KCNK16_000003 7973/13006 4308/8600 3665/4406 - - - - - - -
?/? c.*9G>A r.(=) p.(=) g.39282769C>T Copied from the Exome Variant Server KCNK16_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*30C>T r.(=) p.(=) g.39282748G>A Copied from the Exome Variant Server KCNK16_000001 7966/13006 4302/8600 3664/4406 - - - - - - -
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