Unique variants in gene ATP1A2

Information The variants shown are described using the NM_000702.3 transcript reference sequence.

209 entries on 3 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.-48C>G r.(=) p.(=) g.160085604C>G Copied from the Exome Variant Server ATP1A2_000001 49/12994 43/8594 6/4400
1 c.-20C>T r.(=) p.(=) g.160085632C>T Copied from the Exome Variant Server ATP1A2_000002 1/13002 0/8596 1/4406
1 c.12+12T>A r.(=) p.(=) g.160085675T>A Copied from the Exome Variant Server ATP1A2_000003 1/13006 1/8600 0/4406
1 c.12+24G>A r.(=) p.(=) g.160085687G>A Copied from the Exome Variant Server ATP1A2_000004 1/13006 1/8600 0/4406
1 c.12+27G>A r.(=) p.(=) g.160085690G>A Copied from the Exome Variant Server ATP1A2_000005 1/13006 1/8600 0/4406
1 c.12+29A>G r.(=) p.(=) g.160085692A>G Copied from the Exome Variant Server ATP1A2_000006 2/13006 2/8600 0/4406
1 c.12+80G>T r.(=) p.(=) g.160085743G>T Copied from the Exome Variant Server ATP1A2_000007 14/4566 0/3182 14/1384
1 c.12+90C>T r.(=) p.(=) g.160085753C>T Copied from the Exome Variant Server ATP1A2_000008 1/4566 1/3182 0/1384
1 c.12+91G>A r.(=) p.(=) g.160085754G>A Copied from the Exome Variant Server ATP1A2_000009 1/4566 1/3182 0/1384
1 c.13-47C>T r.(=) p.(=) g.160090649C>T Copied from the Exome Variant Server ATP1A2_000010 46/12674 41/8386 5/4288
1 c.13-22T>C r.(=) p.(=) g.160090674T>C Copied from the Exome Variant Server ATP1A2_000011 12835/12838 8492/8492 4343/4346
1 c.13-14_13-11del r.(=) p.(=) g.160090682_160090685del Copied from the Exome Variant Server ATP1A2_000012 8424/12278 6581/8090 1843/4188
1 c.25T>A r.(?) p.(Tyr9Asn) g.160090708T>A Copied from the Exome Variant Server ATP1A2_000013 28/12976 23/8588 5/4388
1 c.44C>T r.(?) p.(Thr15Met) g.160090727C>T Copied from the Exome Variant Server ATP1A2_000014 1/12988 0/8594 1/4394
1 c.129G>A r.(=) p.(=) g.160090993G>A Copied from the Exome Variant Server ATP1A2_000015 123/13006 1/8600 122/4406
1 c.152G>A r.(?) p.(Arg51His) g.160091016G>A Copied from the Exome Variant Server ATP1A2_000016 1/13006 1/8600 0/4406
1 c.168C>T r.(=) p.(=) g.160091032C>T Copied from the Exome Variant Server ATP1A2_000017 1/13006 1/8600 0/4406
1 c.177+21G>C r.(=) p.(=) g.160091062G>C Copied from the Exome Variant Server ATP1A2_000018 40/13006 0/8600 40/4406
1 c.177+68G>C r.(=) p.(=) g.160091109G>C Copied from the Exome Variant Server ATP1A2_000019 2/4566 1/3182 1/1384
1 c.178-36G>T r.(=) p.(=) g.160092967G>T Copied from the Exome Variant Server ATP1A2_000020 7/13006 3/8600 4/4406
1 c.178-31C>T r.(=) p.(=) g.160092972C>T Copied from the Exome Variant Server ATP1A2_000021 1/13006 0/8600 1/4406
1 c.178-21C>T r.(=) p.(=) g.160092982C>T Copied from the Exome Variant Server ATP1A2_000022 7/13006 6/8600 1/4406
1 c.178-7C>A r.(=) p.(=) g.160092996C>A Copied from the Exome Variant Server ATP1A2_000023 1/13006 1/8600 0/4406
1 c.193C>T r.(?) p.(Arg65Trp) g.160093018C>T Copied from the Exome Variant Server ATP1A2_000024 1/13006 1/8600 0/4406
1 c.195G>C r.(=) p.(=) g.160093020G>C Copied from the Exome Variant Server ATP1A2_000025 1/13006 1/8600 0/4406
1 c.339C>T r.(=) p.(=) g.160093164C>T Copied from the Exome Variant Server ATP1A2_000026 5/13006 3/8600 2/4406
1 c.340G>A r.(?) p.(Gly114Ser) g.160093165G>A Copied from the Exome Variant Server ATP1A2_000027 8/13006 7/8600 1/4406
1 c.360G>A r.(=) p.(=) g.160093185G>A Copied from the Exome Variant Server ATP1A2_000028 1/13006 1/8600 0/4406
1 c.375C>T r.(=) p.(=) g.160093200C>T Copied from the Exome Variant Server ATP1A2_000029 1/13006 0/8600 1/4406
1 c.381T>C r.(=) p.(=) g.160093206T>C Copied from the Exome Variant Server ATP1A2_000030 2/13006 0/8600 2/4406
1 c.381+12C>T r.(=) p.(=) g.160093218C>T Copied from the Exome Variant Server ATP1A2_000031 1/13006 0/8600 1/4406
1 c.381+16C>T r.(=) p.(=) g.160093222C>T Copied from the Exome Variant Server ATP1A2_000032 12348/13006 8592/8600 3756/4406
1 c.381+22G>A r.(=) p.(=) g.160093228G>A Copied from the Exome Variant Server ATP1A2_000033 12/13006 9/8600 3/4406
1 c.381+32C>T r.(=) p.(=) g.160093238C>T Copied from the Exome Variant Server ATP1A2_000034 1/13006 0/8600 1/4406
1 c.382-43T>C r.(=) p.(=) g.160093690T>C Copied from the Exome Variant Server ATP1A2_000035 1/13006 1/8600 0/4406
1 c.382-41G>T r.(=) p.(=) g.160093692G>T Copied from the Exome Variant Server ATP1A2_000036 302/13006 102/8600 200/4406
1 c.382-32G>T r.(=) p.(=) g.160093701G>T Copied from the Exome Variant Server ATP1A2_000038 4/13006 4/8600 0/4406
1 c.382-27G>T r.(=) p.(=) g.160093706G>T Copied from the Exome Variant Server ATP1A2_000039 8/13006 0/8600 8/4406
1 c.382-22T>C r.(=) p.(=) g.160093711T>C Copied from the Exome Variant Server ATP1A2_000041 1/13006 1/8600 0/4406
1 c.495G>A r.(=) p.(=) g.160093846G>A Copied from the Exome Variant Server ATP1A2_000043 1/13006 1/8600 0/4406
1 c.495+7T>G r.(=) p.(=) g.160093853T>G Copied from the Exome Variant Server ATP1A2_000045 1/13006 1/8600 0/4406
1 c.495+11A>G r.(=) p.(=) g.160093857A>G Copied from the Exome Variant Server ATP1A2_000047 1/13006 1/8600 0/4406
1 c.496-37G>C r.(=) p.(=) g.160094049G>C Copied from the Exome Variant Server ATP1A2_000049 12/12992 1/8594 11/4398
1 c.529C>A r.(?) p.(Gln177Lys) g.160094119C>A Copied from the Exome Variant Server ATP1A2_000037 1/13006 0/8600 1/4406
1 c.591C>T r.(=) p.(=) g.160094181C>T Copied from the Exome Variant Server ATP1A2_000040 1/13006 1/8600 0/4406
1 c.614C>G r.(?) p.(Ser205Cys) g.160094204C>G Copied from the Exome Variant Server ATP1A2_000042 1/13006 1/8600 0/4406
1 c.627T>C r.(=) p.(=) g.160094217T>C Copied from the Exome Variant Server ATP1A2_000044 2/13006 0/8600 2/4406
1 c.630+38G>C r.(=) p.(=) g.160094258G>C Copied from the Exome Variant Server ATP1A2_000046 1/13000 1/8596 0/4404
1 c.631-49A>T r.(=) p.(=) g.160094877A>T Copied from the Exome Variant Server ATP1A2_000048 1/13006 1/8600 0/4406
1 c.631-17C>T r.(=) p.(=) g.160094909C>T Copied from the Exome Variant Server ATP1A2_000050 1/13006 1/8600 0/4406
1 c.631-14T>C r.(=) p.(=) g.160094912T>C Copied from the Exome Variant Server ATP1A2_000051 1/13006 1/8600 0/4406
1 c.741T>C r.(=) p.(=) g.160095036T>C Copied from the Exome Variant Server ATP1A2_000052 1/13006 0/8600 1/4406
1 c.748+22T>C r.(=) p.(=) g.160095065T>C Copied from the Exome Variant Server ATP1A2_000053 1/13006 1/8600 0/4406
1 c.748+25A>G r.(=) p.(=) g.160095068A>G Copied from the Exome Variant Server ATP1A2_000054 2/13006 0/8600 2/4406
1 c.749-43G>C r.(=) p.(=) g.160097299G>C Copied from the Exome Variant Server ATP1A2_000055 28/13006 25/8600 3/4406
1 c.749-31G>A r.(=) p.(=) g.160097311G>A Copied from the Exome Variant Server ATP1A2_000057 1/13006 0/8600 1/4406
1 c.749-28C>T r.(=) p.(=) g.160097314C>T Copied from the Exome Variant Server ATP1A2_000059 1/13006 1/8600 0/4406
1 c.749-27C>A r.(=) p.(=) g.160097315C>A Copied from the Exome Variant Server ATP1A2_000061 1041/13006 939/8600 102/4406
1 c.764T>C r.(?) p.(Ile255Thr) g.160097357T>C Copied from the Exome Variant Server ATP1A2_000063 2/13006 1/8600 1/4406
1 c.765T>A r.(=) p.(=) g.160097358T>A Copied from the Exome Variant Server ATP1A2_000065 2/13006 0/8600 2/4406
1 c.814G>A r.(?) p.(Ala272Thr) g.160097407G>A Copied from the Exome Variant Server ATP1A2_000067 1/13006 0/8600 1/4406
1 c.836G>A r.(?) p.(Arg279Gln) g.160097429G>A Copied from the Exome Variant Server ATP1A2_000069 4/13006 0/8600 4/4406
1 c.915C>T r.(=) p.(=) g.160097508C>T Copied from the Exome Variant Server ATP1A2_000072 1/13006 0/8600 1/4406
1 c.1017+20G>T r.(=) p.(=) g.160097630G>T Copied from the Exome Variant Server ATP1A2_000074 1/13006 0/8600 1/4406
1 c.1017+23C>T r.(=) p.(=) g.160097633C>T Copied from the Exome Variant Server ATP1A2_000076 1/13006 1/8600 0/4406
1 c.1018-44C>T r.(=) p.(=) g.160098398C>T Copied from the Exome Variant Server ATP1A2_000078 1/13006 1/8600 0/4406
1 c.1018-29C>T r.(=) p.(=) g.160098413C>T Copied from the Exome Variant Server ATP1A2_000080 3/13006 3/8600 0/4406
1 c.1018-28C>A r.(=) p.(=) g.160098414C>A Copied from the Exome Variant Server ATP1A2_000082 1/13006 1/8600 0/4406
1 c.1018-11T>G r.(=) p.(=) g.160098431T>G Copied from the Exome Variant Server ATP1A2_000056 2/13006 2/8600 0/4406
1 c.1020G>A r.(=) p.(=) g.160098444G>A Copied from the Exome Variant Server ATP1A2_000058 1/13006 1/8600 0/4406
1 c.1029C>T r.(=) p.(=) g.160098453C>T Copied from the Exome Variant Server ATP1A2_000060 2/13006 2/8600 0/4406
1 c.1092G>A r.(=) p.(=) g.160098516G>A Copied from the Exome Variant Server ATP1A2_000062 1/13006 1/8600 0/4406
1 c.1104G>C r.(=) p.(=) g.160098528G>C Copied from the Exome Variant Server ATP1A2_000064 2/13006 0/8600 2/4406
1 c.1119G>A r.(=) p.(=) g.160098543G>A Copied from the Exome Variant Server ATP1A2_000066 2503/13006 1666/8600 837/4406
1 c.1125G>A r.(=) p.(=) g.160098549G>A Copied from the Exome Variant Server ATP1A2_000068 41/13006 0/8600 41/4406
1 c.1128G>A r.(=) p.(=) g.160098552G>A Copied from the Exome Variant Server ATP1A2_000070 2/13006 0/8600 2/4406
1 c.1156G>A r.(?) p.(Val386Ile) g.160098580G>A Copied from the Exome Variant Server ATP1A2_000071 1/13006 1/8600 0/4406
1 c.1216+4A>G r.spl? p.? g.160098644A>G Copied from the Exome Variant Server ATP1A2_000073 1/13006 1/8600 0/4406
1 c.1216+14C>G r.(=) p.(=) g.160098654C>G Copied from the Exome Variant Server ATP1A2_000075 7/13006 7/8600 0/4406
1 c.1216+28T>G r.(=) p.(=) g.160098668T>G Copied from the Exome Variant Server ATP1A2_000077 4/13006 3/8600 1/4406
1 c.1216+48G>A r.(=) p.(=) g.160098688G>A Copied from the Exome Variant Server ATP1A2_000079 63/13004 60/8600 3/4404
1 c.1217-32C>G r.(=) p.(=) g.160098738C>G Copied from the Exome Variant Server ATP1A2_000081 1/13000 1/8596 0/4404
1 c.1217-30C>T r.(=) p.(=) g.160098740C>T Copied from the Exome Variant Server ATP1A2_000083 5/13000 5/8596 0/4404
1 c.1217-29G>A r.(=) p.(=) g.160098741G>A Copied from the Exome Variant Server ATP1A2_000084 2/13000 2/8596 0/4404
1 c.1238C>T r.(?) p.(Ser413Phe) g.160098791C>T Copied from the Exome Variant Server ATP1A2_000085 1/13006 1/8600 0/4406
1 c.1251G>A r.(=) p.(=) g.160098804G>A Copied from the Exome Variant Server ATP1A2_000086 1/13006 0/8600 1/4406
1 c.1262G>A r.(?) p.(Arg421Gln) g.160098815G>A Copied from the Exome Variant Server ATP1A2_000087 2/13006 0/8600 2/4406
1 c.1288G>A r.(?) p.(Val430Ile) g.160098841G>A Copied from the Exome Variant Server ATP1A2_000088 1/13006 0/8600 1/4406
1 c.1297G>A r.(?) p.(Ala433Thr) g.160098850G>A Copied from the Exome Variant Server ATP1A2_000089 1/13006 1/8600 0/4406
1 c.1326+19C>G r.(=) p.(=) g.160098898C>G Copied from the Exome Variant Server ATP1A2_000090 1/13006 0/8600 1/4406
1 c.1326+37G>T r.(=) p.(=) g.160098916G>T Copied from the Exome Variant Server ATP1A2_000091 1/13006 0/8600 1/4406
1 c.1326+48_1326+49insG r.(=) p.(=) g.160098927_160098928insG Copied from the Exome Variant Server ATP1A2_000092 10288/12520 7076/8254 3212/4266
1 c.1327-46T>A r.(=) p.(=) g.160099010T>A Copied from the Exome Variant Server ATP1A2_000093 17/13006 1/8600 16/4406
1 c.1327-40C>G r.(=) p.(=) g.160099016C>G Copied from the Exome Variant Server ATP1A2_000094 6/13006 6/8600 0/4406
1 c.1368G>A r.(=) p.(=) g.160099097G>A Copied from the Exome Variant Server ATP1A2_000095 1/13006 0/8600 1/4406
1 c.1422G>A r.(=) p.(=) g.160099151G>A Copied from the Exome Variant Server ATP1A2_000096 1/13006 0/8600 1/4406
1 c.1461+32_1461+33insGAGG r.(=) p.(=) g.160099222_160099223insGAGG Copied from the Exome Variant Server ATP1A2_000097 2/12518 2/8252 0/4266
1 c.1461+47G>C r.(=) p.(=) g.160099237G>C Copied from the Exome Variant Server ATP1A2_000098 1/13006 0/8600 1/4406
1 c.1462-52G>A r.(=) p.(=) g.160099840G>A Copied from the Exome Variant Server ATP1A2_000099 1/5734 1/3982 0/1752
1 c.1470C>T r.(=) p.(=) g.160099900C>T Copied from the Exome Variant Server ATP1A2_000100 10/13006 0/8600 10/4406
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