Unique variants in gene KCNK17

Information The variants shown are described using the NM_031460.3 transcript reference sequence.

104 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-23G>C r.(=) p.(=) g.39282119C>G Copied from the Exome Variant Server KCNK17_000099 27/7410 26/5184 1/2226
1 c.14G>A r.(?) p.(Arg5Gln) g.39282083C>T Copied from the Exome Variant Server KCNK17_000097 63/8720 1/5982 62/2738
1 c.52G>A r.(?) p.(Ala18Thr) g.39282045C>T Copied from the Exome Variant Server KCNK17_000095 27/10440 1/7004 26/3436
1 c.61A>G r.(?) p.(Ser21Gly) g.39282036T>C Copied from the Exome Variant Server KCNK17_000093 7161/10960 4061/7324 3100/3636
1 c.105G>C r.(=) p.(=) g.39281992C>G Copied from the Exome Variant Server KCNK17_000104 3/12198 3/8084 0/4114
1 c.148G>T r.(?) p.(Asp50Tyr) g.39281949C>A Copied from the Exome Variant Server KCNK17_000103 6/12618 1/8364 5/4254
1 c.156C>T r.(=) p.(=) g.39281941G>A Copied from the Exome Variant Server KCNK17_000102 2/12694 0/8400 2/4294
1 c.181G>A r.(?) p.(Glu61Lys) g.39281916C>T Copied from the Exome Variant Server KCNK17_000101 47/12884 44/8536 3/4348
1 c.183G>T r.(?) p.(Glu61Asp) g.39281914C>A Copied from the Exome Variant Server KCNK17_000100 4/12890 4/8540 0/4350
1 c.190C>T r.(?) p.(Gln64*) g.39281907G>A Copied from the Exome Variant Server KCNK17_000098 4/12898 0/8540 4/4358
1 c.194A>G r.(?) p.(Asn65Ser) g.39281903T>C Copied from the Exome Variant Server KCNK17_000096 1/12896 0/8536 1/4360
1 c.206T>C r.(?) p.(Leu69Pro) g.39281891A>G Copied from the Exome Variant Server KCNK17_000094 1/12892 0/8534 1/4358
1 c.237+5G>A r.spl? p.? g.39281855C>T Copied from the Exome Variant Server KCNK17_000092 3/12630 0/8368 3/4262
1 c.237+32G>A r.(=) p.(=) g.39281828C>T Copied from the Exome Variant Server KCNK17_000091 1/11928 0/7894 1/4034
1 c.238-43A>G r.(=) p.(=) g.39278826T>C Copied from the Exome Variant Server KCNK17_000090 264/13006 26/8600 238/4406
1 c.238-42T>A r.(=) p.(=) g.39278825A>T Copied from the Exome Variant Server KCNK17_000089 4/13006 4/8600 0/4406
1 c.238-33A>G r.(=) p.(=) g.39278816T>C Copied from the Exome Variant Server KCNK17_000088 1/13006 1/8600 0/4406
1 c.238-29C>T r.(=) p.(=) g.39278812G>A Copied from the Exome Variant Server KCNK17_000087 1/13006 1/8600 0/4406
1 c.238-23G>A r.(=) p.(=) g.39278806C>T Copied from the Exome Variant Server KCNK17_000086 6/13006 0/8600 6/4406
1 c.238-11C>G r.(=) p.(=) g.39278794G>C Copied from the Exome Variant Server KCNK17_000085 1180/13006 1076/8600 104/4406
1 c.238-10T>G r.(=) p.(=) g.39278793A>C Copied from the Exome Variant Server KCNK17_000084 1/13006 1/8600 0/4406
1 c.238-3_238-2insC r.spl? p.? g.39278785_39278786insG Copied from the Exome Variant Server KCNK17_000083 2/12518 0/8254 2/4264
1 c.244G>C r.(?) p.(Val82Leu) g.39278777C>G Copied from the Exome Variant Server KCNK17_000082 6/13006 0/8600 6/4406
1 c.254A>G r.(?) p.(Tyr85Cys) g.39278767T>C Copied from the Exome Variant Server KCNK17_000081 1/13006 1/8600 0/4406
1 c.262G>A r.(?) p.(Gly88Arg) g.39278759C>T Copied from the Exome Variant Server KCNK17_000080 1/13006 1/8600 0/4406
1 c.265G>A r.(?) p.(Ala89Thr) g.39278756C>T Copied from the Exome Variant Server KCNK17_000079 10/13006 9/8600 1/4406
1 c.287C>T r.(?) p.(Thr96Ile) g.39278734G>A Copied from the Exome Variant Server KCNK17_000078 1/13006 0/8600 1/4406
1 c.324_326del r.(?) p.(Phe109del) g.39278695_39278697del Copied from the Exome Variant Server KCNK17_000077 74/12518 65/8254 9/4264
1 c.339C>T r.(=) p.(=) g.39278682G>A Copied from the Exome Variant Server KCNK17_000076 2/13006 2/8600 0/4406
1 c.353-16C>A r.(=) p.(=) g.39272447G>T Copied from the Exome Variant Server KCNK17_000075 127/13006 112/8600 15/4406
1 c.353-13C>T r.(=) p.(=) g.39272444G>A Copied from the Exome Variant Server KCNK17_000074 3/13006 2/8600 1/4406
1 c.356A>G r.(?) p.(Tyr119Cys) g.39272428T>C Copied from the Exome Variant Server KCNK17_000073 1/13006 1/8600 0/4406
1 c.362A>G r.(?) p.(Asn121Ser) g.39272422T>C Copied from the Exome Variant Server KCNK17_000072 2/13006 2/8600 0/4406
1 c.378G>C r.(=) p.(=) g.39272406C>G Copied from the Exome Variant Server KCNK17_000071 1/13006 0/8600 1/4406
1 c.385G>T r.(?) p.(Ala129Ser) g.39272399C>A Copied from the Exome Variant Server KCNK17_000070 3/13006 0/8600 3/4406
1 c.389G>A r.(?) p.(Arg130His) g.39272395C>T Copied from the Exome Variant Server KCNK17_000069 3/13006 1/8600 2/4406
1 c.396C>T r.(=) p.(=) g.39272388G>A Copied from the Exome Variant Server KCNK17_000068 2/13006 0/8600 2/4406
1 c.425C>T r.(?) p.(Pro142Leu) g.39272359G>A Copied from the Exome Variant Server KCNK17_000067 1/13006 1/8600 0/4406
1 c.439_441del r.(?) p.(Val147del) g.39272343_39272345del Copied from the Exome Variant Server KCNK17_000066 76/12518 53/8254 23/4264
1 c.443T>G r.(?) p.(Leu148Arg) g.39272341A>C Copied from the Exome Variant Server KCNK17_000065 1/13006 0/8600 1/4406
1 c.448C>T r.(?) p.(Arg150*) g.39272336G>A Copied from the Exome Variant Server KCNK17_000064 1/13006 1/8600 0/4406
1 c.465G>A r.(?) p.(Met155Ile) g.39272319C>T Copied from the Exome Variant Server KCNK17_000063 1/13006 0/8600 1/4406
1 c.495G>A r.(=) p.(=) g.39272289C>T Copied from the Exome Variant Server KCNK17_000062 3/13006 0/8600 3/4406
1 c.513+18C>T r.(=) p.(=) g.39272253G>A Copied from the Exome Variant Server KCNK17_000061 43/13006 0/8600 43/4406
1 c.514-50C>G r.(=) p.(=) g.39271957G>C Copied from the Exome Variant Server KCNK17_000060 1/12948 1/8576 0/4372
1 c.514-27G>A r.(=) p.(=) g.39271934C>T Copied from the Exome Variant Server KCNK17_000059 2/12992 0/8594 2/4398
1 c.514-3C>T r.spl? p.? g.39271910G>A Copied from the Exome Variant Server KCNK17_000057 1/13004 0/8600 1/4404
1 c.524A>T r.(?) p.(Lys175Met) g.39271897T>A Copied from the Exome Variant Server KCNK17_000055 2/13004 0/8600 2/4404
1 c.528G>A r.(=) p.(=) g.39271893C>T Copied from the Exome Variant Server KCNK17_000053 112/13006 1/8600 111/4406
1 c.530G>A r.(?) p.(Arg177Gln) g.39271891C>T Copied from the Exome Variant Server KCNK17_000051 1/13006 1/8600 0/4406
1 c.539C>T r.(?) p.(Ala180Val) g.39271882G>A Copied from the Exome Variant Server KCNK17_000049 3/13006 3/8600 0/4406
1 c.540G>A r.(=) p.(=) g.39271881C>T Copied from the Exome Variant Server KCNK17_000047 255/13006 229/8600 26/4406
1 c.549C>T r.(=) p.(=) g.39271872G>A Copied from the Exome Variant Server KCNK17_000045 1/13004 1/8600 0/4404
1 c.560C>T r.(?) p.(Ser187Leu) g.39271861G>A Copied from the Exome Variant Server KCNK17_000043 1/13006 1/8600 0/4406
1 c.565del r.(?) p.(Leu189Serfs*40) g.39271856del Copied from the Exome Variant Server KCNK17_000058 13/12518 0/8254 13/4264
1 c.578T>C r.(?) p.(Leu193Pro) g.39271843A>G Copied from the Exome Variant Server KCNK17_000056 1/13006 1/8600 0/4406
1 c.590C>T r.(?) p.(Pro197Leu) g.39271831G>A Copied from the Exome Variant Server KCNK17_000054 1/13006 0/8600 1/4406
1 c.591G>A r.(=) p.(=) g.39271830C>T Copied from the Exome Variant Server KCNK17_000052 5/13006 5/8600 0/4406
1 c.614G>A r.(?) p.(Gly205Asp) g.39271807C>T Copied from the Exome Variant Server KCNK17_000050 1/13006 1/8600 0/4406
1 c.642C>T r.(=) p.(=) g.39271779G>A Copied from the Exome Variant Server KCNK17_000048 48/13006 0/8600 48/4406
1 c.643G>A r.(?) p.(Ala215Thr) g.39271778C>T Copied from the Exome Variant Server KCNK17_000046 1/13006 1/8600 0/4406
1 c.655_656insC r.(?) p.(Leu219Profs*64) g.39271765_39271766insG Copied from the Exome Variant Server KCNK17_000044 1/12518 1/8254 0/4264
1 c.663C>T r.(=) p.(=) g.39271758G>A Copied from the Exome Variant Server KCNK17_000042 4/13006 0/8600 4/4406
1 c.664G>A r.(?) p.(Val222Met) g.39271757C>T Copied from the Exome Variant Server KCNK17_000041 2/13006 0/8600 2/4406
1 c.675C>T r.(=) p.(=) g.39271746G>A Copied from the Exome Variant Server KCNK17_000040 1/13006 0/8600 1/4406
1 c.688+8T>A r.(=) p.(=) g.39271725A>T Copied from the Exome Variant Server KCNK17_000039 2/13006 0/8600 2/4406
1 c.688+16G>A r.(=) p.(=) g.39271717C>T Copied from the Exome Variant Server KCNK17_000038 32/13006 0/8600 32/4406
1 c.688+19T>C r.(=) p.(=) g.39271714A>G Copied from the Exome Variant Server KCNK17_000037 1/13006 1/8600 0/4406
1 c.688+18_688+21del r.(=) p.(=) g.39271712_39271715del Copied from the Exome Variant Server KCNK17_000036 17/12518 11/8254 6/4264
1 c.688+21G>C r.(=) p.(=) g.39271712C>G Copied from the Exome Variant Server KCNK17_000035 3/13006 3/8600 0/4406
1 c.688+27C>T r.(=) p.(=) g.39271706G>A Copied from the Exome Variant Server KCNK17_000034 1/13006 0/8600 1/4406
1 c.688+28G>A r.(=) p.(=) g.39271705C>T Copied from the Exome Variant Server KCNK17_000033 194/13006 6/8600 188/4406
1 c.688+37C>T r.(=) p.(=) g.39271696G>A Copied from the Exome Variant Server KCNK17_000032 6/13006 0/8600 6/4406
1 c.688+38G>T r.(=) p.(=) g.39271695C>A Copied from the Exome Variant Server KCNK17_000031 1/13006 1/8600 0/4406
1 c.688+46A>G r.(=) p.(=) g.39271687T>C Copied from the Exome Variant Server KCNK17_000030 1/13006 1/8600 0/4406
1 c.688+47T>C r.(=) p.(=) g.39271686A>G Copied from the Exome Variant Server KCNK17_000029 111/13006 0/8600 111/4406
1 c.689-813T>C r.(=) p.(=) g.39268326A>G Copied from the Exome Variant Server KCNK17_000028 6/4566 0/3182 6/1384
1 c.689-803A>G r.(=) p.(=) g.39268316T>C Copied from the Exome Variant Server KCNK17_000027 69/4566 2/3182 67/1384
1 c.689-729G>A r.(=) p.(=) g.39268242C>T Copied from the Exome Variant Server KCNK17_000026 1/4566 1/3182 0/1384
1 c.689-728G>T r.(=) p.(=) g.39268241C>A Copied from the Exome Variant Server KCNK17_000025 1/4566 0/3182 1/1384
1 c.689-722G>A r.(=) p.(=) g.39268235C>T Copied from the Exome Variant Server KCNK17_000024 3/4566 0/3182 3/1384
1 c.689-633A>G r.(=) p.(=) g.39268146T>C Copied from the Exome Variant Server KCNK17_000023 39/4566 34/3182 5/1384
1 c.689-24C>T r.(=) p.(=) g.39267537G>A Copied from the Exome Variant Server KCNK17_000022 2/13006 2/8600 0/4406
1 c.696C>T r.(=) p.(=) g.39267506G>A Copied from the Exome Variant Server KCNK17_000021 1/13006 0/8600 1/4406
1 c.703C>G r.(?) p.(Gln235Glu) g.39267499G>C Copied from the Exome Variant Server KCNK17_000020 1/13006 0/8600 1/4406
1 c.735G>A r.(=) p.(=) g.39267467C>T Copied from the Exome Variant Server KCNK17_000019 2/13006 2/8600 0/4406
1 c.756G>A r.(=) p.(=) g.39267446C>T Copied from the Exome Variant Server KCNK17_000018 1/13006 1/8600 0/4406
1 c.757A>T r.(?) p.(Met253Leu) g.39267445T>A Copied from the Exome Variant Server KCNK17_000017 68/13006 0/8600 68/4406
1 c.762A>G r.(=) p.(=) g.39267440T>C Copied from the Exome Variant Server KCNK17_000016 2/13006 2/8600 0/4406
1 c.802G>A r.(?) p.(Glu268Lys) g.39267400C>T Copied from the Exome Variant Server KCNK17_000015 1/13006 0/8600 1/4406
1 c.818_819insGT r.(?) p.(Cys274Tyrfs*72) g.39267383_39267384insAC Copied from the Exome Variant Server KCNK17_000014 1/12518 0/8254 1/4264
1 c.858G>T r.(?) p.(Lys286Asn) g.39267344C>A Copied from the Exome Variant Server KCNK17_000013 1/13006 0/8600 1/4406
1 c.886C>A r.(=) p.(=) g.39267316G>T Copied from the Exome Variant Server KCNK17_000012 1/13006 1/8600 0/4406
1 c.887G>A r.(?) p.(Arg296Gln) g.39267315C>T Copied from the Exome Variant Server KCNK17_000011 142/13006 0/8600 142/4406
1 c.880_890del r.(?) p.(Pro294Alafs*79) g.39267312_39267322del Copied from the Exome Variant Server KCNK17_000010 5/12518 3/8254 2/4264
1 c.923A>G r.(?) p.(Tyr308Cys) g.39267279T>C Copied from the Exome Variant Server KCNK17_000009 13/13006 12/8600 1/4406
1 c.935C>A r.(?) p.(Pro312His) g.39267267G>T Copied from the Exome Variant Server KCNK17_000008 2/13006 1/8600 1/4406
1 c.949C>T r.(?) p.(Gln317*) g.39267253G>A Copied from the Exome Variant Server KCNK17_000007 1/13006 1/8600 0/4406
1 c.956T>C r.(?) p.(Leu319Pro) g.39267246A>G Copied from the Exome Variant Server KCNK17_000006 33/13006 0/8600 33/4406
1 c.970C>G r.(?) p.(His324Asp) g.39267232G>C Copied from the Exome Variant Server KCNK17_000005 5/13006 0/8600 5/4406
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