Full data view for gene KCNH7

Information The variants shown are described using the NM_033272.3 transcript reference sequence.

149 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.-33C>G r.(=) p.(=) g.163695061G>C Copied from the Exome Variant Server KCNH7_000146 24/13006 0/8600 24/4406 - - - - - - -
?/? c.-8G>C r.(=) p.(=) g.163695036C>G Copied from the Exome Variant Server KCNH7_000145 1/13006 0/8600 1/4406 - - - - - - -
?/? c.3G>A r.? p.? g.163695026C>T Copied from the Exome Variant Server KCNH7_000144 1/13006 1/8600 0/4406 - - - - - - -
?/? c.33A>G r.(=) p.(=) g.163694996T>C Copied from the Exome Variant Server KCNH7_000143 1/13006 1/8600 0/4406 - - - - - - -
?/? c.76+14T>C r.(=) p.(=) g.163694939A>G Copied from the Exome Variant Server KCNH7_000142 1/13006 0/8600 1/4406 - - - - - - -
?/? c.76+24T>C r.(=) p.(=) g.163694929A>G Copied from the Exome Variant Server KCNH7_000141 1/13006 0/8600 1/4406 - - - - - - -
?/? c.76+28C>A r.(=) p.(=) g.163694925G>T Copied from the Exome Variant Server KCNH7_000140 1/13006 0/8600 1/4406 - - - - - - -
?/? c.76+40C>T r.(=) p.(=) g.163694913G>A Copied from the Exome Variant Server KCNH7_000139 1/13006 1/8600 0/4406 - - - - - - -
?/? c.88A>G r.(?) p.(Ile30Val) g.163693266T>C Copied from the Exome Variant Server KCNH7_000138 1/13006 1/8600 0/4406 - - - - - - -
?/? c.198C>A r.(?) p.(Cys66*) g.163693156G>T Copied from the Exome Variant Server KCNH7_000137 1/13006 1/8600 0/4406 - - - - - - -
?/? c.199G>A r.(?) p.(Asp67Asn) g.163693155C>T Copied from the Exome Variant Server KCNH7_000136 1/13006 1/8600 0/4406 - - - - - - -
?/? c.216C>A r.(=) p.(=) g.163693138G>T Copied from the Exome Variant Server KCNH7_000135 1/13006 0/8600 1/4406 - - - - - - -
?/? c.307+36T>G r.(=) p.(=) g.163693011A>C Copied from the Exome Variant Server KCNH7_000134 1/13004 1/8598 0/4406 - - - - - - -
?/? c.307+48G>T r.(=) p.(=) g.163692999C>A Copied from the Exome Variant Server KCNH7_000133 5/12996 0/8594 5/4402 - - - - - - -
?/? c.308-38G>A r.(=) p.(=) g.163393628C>T Copied from the Exome Variant Server KCNH7_000122 4/13000 4/8596 0/4404 - - - - - - -
?/? c.398C>T r.(?) p.(Thr133Met) g.163393500G>A Copied from the Exome Variant Server KCNH7_000120 1/13006 1/8600 0/4406 - - - - - - -
?/? c.439A>G r.(?) p.(Ile147Val) g.163393459T>C Copied from the Exome Variant Server KCNH7_000132 1/13006 0/8600 1/4406 - - - - - - -
?/? c.463+12G>A r.(=) p.(=) g.163393423C>T Copied from the Exome Variant Server KCNH7_000131 1/13006 1/8600 0/4406 - - - - - - -
?/? c.463+28G>A r.(=) p.(=) g.163393407C>T Copied from the Exome Variant Server KCNH7_000130 1/13006 1/8600 0/4406 - - - - - - -
?/? c.463+31C>T r.(=) p.(=) g.163393404G>A Copied from the Exome Variant Server KCNH7_000129 1/13006 1/8600 0/4406 - - - - - - -
?/? c.464-44A>G r.(=) p.(=) g.163374712T>C Copied from the Exome Variant Server KCNH7_000128 1/12886 1/8546 0/4340 - - - - - - -
?/? c.464-23C>T r.(=) p.(=) g.163374691G>A Copied from the Exome Variant Server KCNH7_000127 3/12964 0/8580 3/4384 - - - - - - -
?/? c.464-21C>G r.(=) p.(=) g.163374689G>C Copied from the Exome Variant Server KCNH7_000126 6/12964 6/8578 0/4386 - - - - - - -
?/? c.555C>T r.(=) p.(=) g.163374577G>A Copied from the Exome Variant Server KCNH7_000125 520/13006 481/8600 39/4406 - - - - - - -
?/? c.568C>T r.(?) p.(His190Tyr) g.163374564G>A Copied from the Exome Variant Server KCNH7_000124 19/13006 0/8600 19/4406 - - - - - - -
?/? c.626G>T r.(?) p.(Ser209Ile) g.163374506C>A Copied from the Exome Variant Server KCNH7_000123 1/13006 0/8600 1/4406 - - - - - - -
?/? c.696C>T r.(=) p.(=) g.163374436G>A Copied from the Exome Variant Server KCNH7_000121 101/13004 3/8600 98/4404 - - - - - - -
?/? c.737G>A r.(?) p.(Arg246Gln) g.163374395C>T Copied from the Exome Variant Server KCNH7_000119 1/13006 0/8600 1/4406 - - - - - - -
?/? c.769C>A r.(?) p.(Gln257Lys) g.163374363G>T Copied from the Exome Variant Server KCNH7_000118 2/13006 2/8600 0/4406 - - - - - - -
?/? c.806G>A r.(?) p.(Ser269Asn) g.163374326C>T Copied from the Exome Variant Server KCNH7_000117 1/13006 1/8600 0/4406 - - - - - - -
?/? c.807T>C r.(=) p.(=) g.163374325A>G Copied from the Exome Variant Server KCNH7_000116 1/13006 1/8600 0/4406 - - - - - - -
?/? c.811C>T r.(?) p.(Arg271Trp) g.163374321G>A Copied from the Exome Variant Server KCNH7_000115 1/13006 1/8600 0/4406 - - - - - - -
?/? c.824C>T r.(?) p.(Ser275Leu) g.163374308G>A Copied from the Exome Variant Server KCNH7_000114 1/13006 1/8600 0/4406 - - - - - - -
?/? c.825G>A r.(=) p.(=) g.163374307C>T Copied from the Exome Variant Server KCNH7_000149 1/13006 1/8600 0/4406 - - - - - - -
?/? c.863A>G r.(?) p.(Asn288Ser) g.163374269T>C Copied from the Exome Variant Server KCNH7_000110 117/13006 1/8600 116/4406 - - - - - - -
?/? c.889G>A r.(?) p.(Glu297Lys) g.163374243C>T Copied from the Exome Variant Server KCNH7_000148 1/13002 1/8598 0/4404 - - - - - - -
?/? c.892+19_892+20insT r.(=) p.(=) g.163374220_163374221insA Copied from the Exome Variant Server KCNH7_000108 10/12490 4/8236 6/4254 - - - - - - -
?/? c.892+26A>T r.(=) p.(=) g.163374214T>A Copied from the Exome Variant Server KCNH7_000105 1/12972 0/8582 1/4390 - - - - - - -
?/? c.892+42G>C r.(=) p.(=) g.163374198C>G Copied from the Exome Variant Server KCNH7_000104 2/12940 2/8564 0/4376 - - - - - - -
?/? c.893-35A>C r.(=) p.(=) g.163369219T>G Copied from the Exome Variant Server KCNH7_000102 2/13004 2/8600 0/4404 - - - - - - -
?/? c.913+3A>G r.spl? p.? g.163369161T>C Copied from the Exome Variant Server KCNH7_000147 1/13006 1/8600 0/4406 - - - - - - -
?/? c.913+51C>T r.(=) p.(=) g.163369113G>A Copied from the Exome Variant Server KCNH7_000113 1/13006 1/8600 0/4406 - - - - - - -
?/? c.913+54G>A r.(=) p.(=) g.163369110C>T Copied from the Exome Variant Server KCNH7_000112 1/4566 1/3182 0/1384 - - - - - - -
?/? c.913+81C>G r.(=) p.(=) g.163369083G>C Copied from the Exome Variant Server KCNH7_000111 24/4566 24/3182 0/1384 - - - - - - -
?/? c.914-3_914-2insT r.spl? p.? g.163361169_163361170insA Copied from the Exome Variant Server KCNH7_000109 3/12510 3/8248 0/4262 - - - - - - -
?/? c.923A>T r.(?) p.(Asn308Ile) g.163361158T>A Copied from the Exome Variant Server KCNH7_000107 55/13006 50/8600 5/4406 - - - - - - -
?/? c.926A>G r.(?) p.(His309Arg) g.163361155T>C Copied from the Exome Variant Server KCNH7_000106 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1024G>T r.(?) p.(Val342Phe) g.163361057C>A Copied from the Exome Variant Server KCNH7_000103 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1102C>A r.(?) p.(His368Asn) g.163360979G>T Copied from the Exome Variant Server KCNH7_000101 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1110G>A r.(=) p.(=) g.163360971C>T Copied from the Exome Variant Server KCNH7_000100 87/13006 75/8600 12/4406 - - - - - - -
?/? c.1120G>A r.(?) p.(Val374Met) g.163360961C>T Copied from the Exome Variant Server KCNH7_000099 32/13006 31/8600 1/4406 - - - - - - -
?/? c.1128+29A>G r.(=) p.(=) g.163360924T>C Copied from the Exome Variant Server KCNH7_000098 23/13006 22/8600 1/4406 - - - - - - -
?/? c.1128+39A>C r.(=) p.(=) g.163360914T>G Copied from the Exome Variant Server KCNH7_000097 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1129-43del r.(=) p.(=) g.163302996del Copied from the Exome Variant Server KCNH7_000096 1/12498 1/8238 0/4260 - - - - - - -
?/? c.1129G>T r.(?) p.(Val377Phe) g.163302953C>A Copied from the Exome Variant Server KCNH7_000095 2/13004 2/8598 0/4406 - - - - - - -
?/? c.1155A>G r.(=) p.(=) g.163302927T>C Copied from the Exome Variant Server KCNH7_000094 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1196C>T r.(?) p.(Thr399Met) g.163302886G>A Copied from the Exome Variant Server KCNH7_000093 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1293C>T r.(=) p.(=) g.163302789G>A Copied from the Exome Variant Server KCNH7_000092 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1440A>G r.(=) p.(=) g.163302642T>C Copied from the Exome Variant Server KCNH7_000091 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1456G>A r.(?) p.(Ala486Thr) g.163302626C>T Copied from the Exome Variant Server KCNH7_000090 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1554+7A>C r.(=) p.(=) g.163302521T>G Copied from the Exome Variant Server KCNH7_000089 3/13004 2/8598 1/4406 - - - - - - -
?/? c.1555-36C>T r.(=) p.(=) g.163292143G>A Copied from the Exome Variant Server KCNH7_000088 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1555-35C>T r.(=) p.(=) g.163292142G>A Copied from the Exome Variant Server KCNH7_000087 6/13004 6/8598 0/4406 - - - - - - -
?/? c.1555-34G>A r.(=) p.(=) g.163292141C>T Copied from the Exome Variant Server KCNH7_000086 67/13006 1/8600 66/4406 - - - - - - -
?/? c.1558A>G r.(?) p.(Thr520Ala) g.163292104T>C Copied from the Exome Variant Server KCNH7_000085 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1681C>T r.(=) p.(=) g.163291981G>A Copied from the Exome Variant Server KCNH7_000084 26/13006 9/8600 17/4406 - - - - - - -
?/? c.1728A>G r.(=) p.(=) g.163291934T>C Copied from the Exome Variant Server KCNH7_000083 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1742T>A r.(?) p.(Leu581Gln) g.163291920A>T Copied from the Exome Variant Server KCNH7_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1842C>T r.(=) p.(=) g.163291820G>A Copied from the Exome Variant Server KCNH7_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1917G>A r.(=) p.(=) g.163291745C>T Copied from the Exome Variant Server KCNH7_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1955-45C>T r.(=) p.(=) g.163280090G>A Copied from the Exome Variant Server KCNH7_000079 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1955-28C>T r.(=) p.(=) g.163280073G>A Copied from the Exome Variant Server KCNH7_000078 6/13004 0/8598 6/4406 - - - - - - -
?/? c.1955-27G>A r.(=) p.(=) g.163280072C>T Copied from the Exome Variant Server KCNH7_000077 1/13004 0/8598 1/4406 - - - - - - -
?/? c.2044C>A r.(=) p.(=) g.163279956G>T Copied from the Exome Variant Server KCNH7_000076 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2070C>T r.(=) p.(=) g.163279930G>A Copied from the Exome Variant Server KCNH7_000075 134/13006 121/8600 13/4406 - - - - - - -
?/? c.2091G>A r.(=) p.(=) g.163279909C>T Copied from the Exome Variant Server KCNH7_000074 2/13006 1/8600 1/4406 - - - - - - -
?/? c.2094A>G r.(=) p.(=) g.163279906T>C Copied from the Exome Variant Server KCNH7_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2154+9G>A r.(=) p.(=) g.163279837C>T Copied from the Exome Variant Server KCNH7_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2154+12T>G r.(=) p.(=) g.163279834A>C Copied from the Exome Variant Server KCNH7_000071 5/13006 4/8600 1/4406 - - - - - - -
?/? c.2154+33C>T r.(=) p.(=) g.163279813G>A Copied from the Exome Variant Server KCNH7_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2154+71C>T r.(=) p.(=) g.163279775G>A Copied from the Exome Variant Server KCNH7_000069 1/13004 0/8598 1/4406 - - - - - - -
?/? c.2154+72G>A r.(=) p.(=) g.163279774C>T Copied from the Exome Variant Server KCNH7_000068 15/13006 0/8600 15/4406 - - - - - - -
?/? c.2154+93C>G r.(=) p.(=) g.163279753G>C Copied from the Exome Variant Server KCNH7_000067 1/13004 1/8598 0/4406 - - - - - - -
?/? c.2154+115G>A r.(=) p.(=) g.163279731C>T Copied from the Exome Variant Server KCNH7_000066 1/12992 1/8586 0/4406 - - - - - - -
?/? c.2155-15T>C r.(=) p.(=) g.163256966A>G Copied from the Exome Variant Server KCNH7_000065 10/13004 9/8600 1/4404 - - - - - - -
?/? c.2157C>A r.(=) p.(=) g.163256949G>T Copied from the Exome Variant Server KCNH7_000064 26/13004 9/8600 17/4404 - - - - - - -
?/? c.2164G>A r.(?) p.(Gly722Ser) g.163256942C>T Copied from the Exome Variant Server KCNH7_000063 1/13004 1/8600 0/4404 - - - - - - -
?/? c.2202T>A r.(?) p.(His734Gln) g.163256904A>T Copied from the Exome Variant Server KCNH7_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2211G>A r.(=) p.(=) g.163256895C>T Copied from the Exome Variant Server KCNH7_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2235C>A r.(=) p.(=) g.163256871G>T Copied from the Exome Variant Server KCNH7_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2239C>A r.(=) p.(=) g.163256867G>T Copied from the Exome Variant Server KCNH7_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2313C>G r.(=) p.(=) g.163256793G>C Copied from the Exome Variant Server KCNH7_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2381A>G r.(?) p.(Lys794Arg) g.163256725T>C Copied from the Exome Variant Server KCNH7_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2408-49T>C r.(=) p.(=) g.163253504A>G Copied from the Exome Variant Server KCNH7_000056 1/12758 1/8528 0/4230 - - - - - - -
?/? c.2408-41G>C r.(=) p.(=) g.163253496C>G Copied from the Exome Variant Server KCNH7_000055 1/12798 1/8536 0/4262 - - - - - - -
?/? c.2408-30C>A r.(=) p.(=) g.163253485G>T Copied from the Exome Variant Server KCNH7_000054 43/12862 0/8556 43/4306 - - - - - - -
?/? c.2408-26G>A r.(=) p.(=) g.163253481C>T Copied from the Exome Variant Server KCNH7_000053 1/12886 0/8566 1/4320 - - - - - - -
?/? c.2408-22_2408-21insCTTT r.(=) p.(=) g.163253476_163253477insAAAG Copied from the Exome Variant Server KCNH7_000052 88/12350 51/8210 37/4140 - - - - - - -
?/? c.2540T>A r.(?) p.(Met847Lys) g.163253323A>T Copied from the Exome Variant Server KCNH7_000051 1/13004 1/8598 0/4406 - - - - - - -
?/? c.2606G>A r.(?) p.(Ser869Asn) g.163253257C>T Copied from the Exome Variant Server KCNH7_000050 1/13000 1/8596 0/4404 - - - - - - -
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