Unique variants in gene ALPK3

Information The variants shown are described using the NM_020778.4 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-131A>G r.(=) p.(=) g.85359947A>G - ALPK3_000001 rs896397393 0.001938 1 516 5094 1 - Admin
./. 1 - c.-74A>C r.(=) p.(=) g.85360004A>C - ALPK3_000002 rs55736017 0.298 154 516 7019 - - Admin
./. 1 - c.9G>A r.(=) p.(=) g.85360086G>A - ALPK3_000003 rs28408840 0.001938 1 516 8869 - - Admin
./. 1 - c.24T>C r.(=) p.(=) g.85360101T>C - ALPK3_000004 rs11857356 0.8 413 516 10850 - - Admin
./. 1 - c.175C>G r.(?) p.(Arg59Gly) g.85360252C>G - ALPK3_000005 rs115389253 0.00969 5 516 9569 - - Admin
./. 1 - c.194A>G r.(?) p.(His65Arg) g.85360271A>G - ALPK3_000006 rs28431354 0.025 13 516 9436 - - Admin
./. 1 - c.226G>A r.(?) p.(Gly76Ser) g.85360303G>A - ALPK3_000007 rs758170095 0.001938 1 516 7644 - - Admin
./. 1 - c.428_429insGGCCA r.(?) p.(Glu148Glnfs*8) g.85360505_85360506insGGCCA - ALPK3_000008 rs1064795973 - - - - - - Admin
./. 1 - c.710C>T r.(?) p.(Ala237Val) g.85360787C>T - ALPK3_000009 rs75088852 0.001938 1 516 5565 - - Admin
./. 1 - c.729C>T r.(=) p.(=) g.85360806C>T - ALPK3_000010 rs78638069 0.003876 2 516 6005 - - Admin
./. 1 - c.750-28A>G r.(=) p.(=) g.85366533A>G - ALPK3_000011 rs114536068 0.007752 4 516 7755 - - Admin
./. 1 - c.788+23T>G r.(=) p.(=) g.85366622T>G - ALPK3_000012 rs28495917 0.005814 3 516 6447 - - Admin
./. 1 - c.788+80G>C r.(=) p.(=) g.85366679G>C - ALPK3_000013 rs556727352 0.001938 1 516 3166 - - Admin
./. 1 - c.789-128C>T r.(=) p.(=) g.85370587C>T - ALPK3_000014 rs142926230 0.001938 1 516 2282 - - Admin
./. 1 - c.789-118C>G r.(=) p.(=) g.85370597C>G - ALPK3_000015 rs891286 0.783 404 516 2691 - - Admin
./. 1 - c.910+60G>T r.(=) p.(=) g.85370896G>T - ALPK3_000016 rs535942669 0.003876 2 516 3191 - - Admin
./. 1 - c.911-120G>A r.(=) p.(=) g.85382091G>A - ALPK3_000017 rs988858185 0.001946 1 514 1899 1 - Admin
./. 1 - c.911-18C>A r.(=) p.(=) g.85382193C>A - ALPK3_000018 rs1896864 0.645 333 516 7645 - - Admin
./. 1 - c.1007G>A r.(?) p.(Arg336His) g.85382307G>A - ALPK3_000019 rs34407151 0.003876 2 516 7431 - - Admin
./. 1 - c.1028+116G>A r.(=) p.(=) g.85382444G>A - ALPK3_000020 - 0.001969 1 508 1494 1 - Admin
./. 1 - c.1029-102G>T r.(=) p.(=) g.85382831G>T - ALPK3_000021 rs147480017 0.001961 1 510 1826 - - Admin
./. 1 - c.1029-74G>T r.(=) p.(=) g.85382859G>T - ALPK3_000022 - 0.001938 1 516 2408 1 - Admin
./. 1 - c.1029-40C>T r.(=) p.(=) g.85382893C>T - ALPK3_000023 rs373593166 0.001938 1 516 3681 - - Admin
./. 1 - c.1029-20del r.(=) p.(=) g.85382913del - ALPK3_000024 rs1064795036 0.001938 1 516 2408 1 - Admin
./. 1 - c.1241C>G r.(?) p.(Thr414Ser) g.85383145C>G - ALPK3_000025 rs3803403 0.211 109 516 9920 - - Admin
./. 1 - c.1482G>T r.(?) p.(Leu494Phe) g.85383386G>T - ALPK3_000026 - 0.001938 1 516 9709 1 - Admin
./. 1 - c.1554G>A r.(=) p.(=) g.85383458G>A - ALPK3_000027 rs151107093 0.001938 1 516 9297 - - Admin
./. 1 - c.1736G>A r.(?) p.(Gly579Glu) g.85383640G>A - ALPK3_000028 rs3803405 0.209 108 516 8778 - - Admin
./. 1 - c.1805A>G r.(?) p.(Gln602Arg) g.85383709A>G - ALPK3_000029 rs55702300 0.021 11 516 8065 - - Admin
./. 1 - c.1935G>A r.(=) p.(=) g.85383839G>A - ALPK3_000030 rs3803406 0.647 334 516 9345 - - Admin
./. 1 - c.1988G>A r.(?) p.(Gly663Asp) g.85383892G>A - ALPK3_000031 rs34409363 0.003876 2 516 9655 - - Admin
./. 1 - c.2128T>G r.(?) p.(Cys710Gly) g.85384032T>G - ALPK3_000032 rs114207635 0.003876 2 516 9791 - - Admin
./. 1 - c.2200A>G r.(?) p.(Arg734Gly) g.85384104A>G - ALPK3_000033 rs775263709 0.001938 1 516 7556 - - Admin
./. 1 - c.2316T>C r.(=) p.(=) g.85399679T>C - ALPK3_000034 rs56005718 0.003876 2 516 6791 - - Admin
./. 1 - c.2783A>G r.(?) p.(Gln928Arg) g.85400146A>G - ALPK3_000035 rs78778733 0.005814 3 516 9212 - - Admin
./. 1 - c.2840C>T r.(?) p.(Ala947Val) g.85400203C>T - ALPK3_000036 rs142677464 0.001938 1 516 8782 - - Admin
./. 1 - c.2973T>C r.(=) p.(=) g.85400336T>C - ALPK3_000037 rs55727747 0.005814 3 516 9226 - - Admin
./. 1 - c.3037G>A r.(?) p.(Glu1013Lys) g.85400400G>A - ALPK3_000038 rs35633849 0.005814 3 516 9038 - - Admin
./. 1 - c.3134G>A r.(?) p.(Arg1045Gln) g.85400497G>A - ALPK3_000039 rs114988007 0.001938 1 516 9808 - - Admin
./. 1 - c.3136C>T r.(?) p.(Pro1046Ser) g.85400499C>T - ALPK3_000040 rs115292211 0.017 9 516 9963 - - Admin
./. 1 - c.3201C>T r.(=) p.(=) g.85400564C>T - ALPK3_000041 rs114957070 0.001938 1 516 9939 - - Admin
./. 1 - c.3414C>T r.(=) p.(=) g.85400777C>T - ALPK3_000042 rs549842134 0.001938 1 516 9946 - - Admin
./. 1 - c.3417C>G r.(=) p.(=) g.85400780C>G - ALPK3_000043 rs35621845 0.00969 5 516 9993 - - Admin
./. 1 - c.3896C>T r.(?) p.(Pro1299Leu) g.85401259C>T - ALPK3_000044 rs306197 0.742 383 516 8920 - - Admin
./. 1 - c.3968A>G r.(?) p.(Gln1323Arg) g.85401331A>G - ALPK3_000045 rs114132013 0.001938 1 516 8032 - - Admin
./. 1 - c.4056T>C r.(=) p.(=) g.85401419T>C - ALPK3_000046 rs167379 0.795 410 516 11661 - - Admin
./. 1 - c.4181del r.(?) p.(Arg1396Glyfs*78) g.85401544del - ALPK3_000047 - 0.001938 1 516 9709 1 - Admin
./. 1 - c.4230A>G r.(=) p.(=) g.85401593A>G - ALPK3_000048 rs368494764 0.001938 1 516 7062 - - Admin
./. 1 - c.4234C>T r.(?) p.(Arg1412Trp) g.85401597C>T - ALPK3_000049 rs55752937 0.017 9 516 6987 - - Admin
./. 1 - c.4310C>T r.(?) p.(Ala1437Val) g.85401673C>T - ALPK3_000050 rs200282192 0.003876 2 516 5982 - - Admin
./. 1 - c.4317C>T r.(=) p.(=) g.85401680C>T - ALPK3_000051 rs35931910 0.068 35 516 6006 - - Admin
./. 1 - c.4402A>G r.(?) p.(Lys1468Glu) g.85401765A>G - ALPK3_000052 rs993911691 0.001938 1 516 5635 1 - Admin
./. 1 - c.4423+39A>G r.(=) p.(=) g.85401825A>G - ALPK3_000053 rs747280368 0.001938 1 516 5332 - - Admin
./. 1 - c.4423+89C>G r.(=) p.(=) g.85401875C>G - ALPK3_000054 rs1017812393 0.001938 1 516 4048 1 - Admin
./. 1 - c.4424-63G>A r.(=) p.(=) g.85402411G>A - ALPK3_000055 rs182516 0.005814 3 516 2596 - - Admin
./. 1 - c.4424-43G>A r.(=) p.(=) g.85402431G>A - ALPK3_000056 rs2289141 0.207 107 516 3483 - - Admin
./. 1 - c.4560G>A r.(=) p.(=) g.85402610G>A - ALPK3_000057 rs34122391 0.05 26 516 9372 - - Admin
./. 1 - c.4571+25C>T r.(=) p.(=) g.85402646C>T - ALPK3_000058 rs182192260 0.005814 3 516 8093 - - Admin
./. 1 - c.4571+101C>T r.(=) p.(=) g.85402722C>T - ALPK3_000059 rs116770529 0.00969 5 516 4895 - - Admin
./. 1 - c.4572-72G>T r.(=) p.(=) g.85402935G>T - ALPK3_000060 rs180883137 0.003876 2 516 3792 - - Admin
./. 1 - c.4669G>A r.(?) p.(Ala1557Thr) g.85403104G>A - ALPK3_000061 rs114686452 0.003876 2 516 8809 - - Admin
./. 1 - c.4670C>A r.(?) p.(Ala1557Asp) g.85403105C>A - ALPK3_000062 rs34775428 0.005814 3 516 8858 - - Admin
./. 1 - c.4699+37C>T r.(=) p.(=) g.85403171C>T - ALPK3_000063 rs150130260 0.007752 4 516 8895 - - Admin
./. 1 - c.4735+37C>T r.(=) p.(=) g.85403340C>T - ALPK3_000064 rs2289140 0.05 26 516 4390 - - Admin
./. 1 - c.4735+57G>A r.(=) p.(=) g.85403360G>A - ALPK3_000065 rs570826793 0.001938 1 516 3387 - - Admin
./. 1 - c.4735+97A>G r.(=) p.(=) g.85403400A>G - ALPK3_000066 rs114931667 0.003906 2 512 1950 - - Admin
./. 1 - c.4748T>G r.(?) p.(Ile1583Ser) g.85405878T>G - ALPK3_000067 - 0.001938 1 516 6739 1 - Admin
./. 1 - c.4794C>A r.(=) p.(=) g.85405924C>A - ALPK3_000068 rs550244353 0.001938 1 516 8240 - - Admin
./. 1 - c.4847G>A r.(?) p.(Gly1616Asp) g.85405977G>A - ALPK3_000069 rs762937166 0.001938 1 516 8688 - - Admin
./. 1 - c.4865T>C r.(?) p.(Leu1622Pro) g.85405995T>C - ALPK3_000070 rs187316 0.227 117 516 9073 - - Admin
./. 1 - c.5016+113A>G r.(=) p.(=) g.85406259A>G - ALPK3_000071 rs997370017 0.001938 1 516 2811 1 - Admin
./. 1 - c.5017-63G>A r.(=) p.(=) g.85406720G>A - ALPK3_000072 rs567458431 0.001938 1 516 8832 - - Admin
./. 1 - c.5081C>T r.(?) p.(Ala1694Val) g.85406847C>T - ALPK3_000073 rs538810746 0.001938 1 516 8884 - - Admin
./. 1 - c.5105+17G>C r.(=) p.(=) g.85406888G>C - ALPK3_000074 rs750497832 0.001938 1 516 6451 - - Admin
./. 1 - c.5106-163A>G r.(=) p.(=) g.85407510A>G - ALPK3_000075 rs562844162 0.001953 1 512 2275 - - Admin
./. 1 - c.5106-109A>C r.(=) p.(=) g.85407564A>C - ALPK3_000076 rs2289138 0.804 415 516 4354 - - Admin
./. 1 - c.5329+23G>A r.(=) p.(=) g.85407919G>A - ALPK3_000077 rs73437966 0.005814 3 516 5590 - - Admin
./. 1 - c.5329+29G>A r.(=) p.(=) g.85407925G>A - ALPK3_000078 rs146550201 0.007752 4 516 5215 - - Admin
./. 1 - c.5330-76A>G r.(=) p.(=) g.85410472A>G - ALPK3_000079 rs76178637 0.003876 2 516 7268 - - Admin
./. 1 - c.5378+36G>A r.(=) p.(=) g.85410632G>A - ALPK3_000080 rs368334137 0.001938 1 516 8505 - - Admin
./. 1 - c.5379-148A>G r.(=) p.(=) g.85411194A>G - ALPK3_000081 rs531705144 0.001953 1 512 1626 - - Admin
./. 1 - c.5428G>A r.(?) p.(Ala1810Thr) g.85411391G>A - ALPK3_000082 rs763590744 0.003876 2 516 6966 - - Admin
./. 1 - c.5618C>T r.(?) p.(Ala1873Val) g.85411581C>T - ALPK3_000083 rs36002219 0.003876 2 516 7273 - - Admin
./. 1 - c.5633C>G r.(?) p.(Ala1878Gly) g.85411596C>G - ALPK3_000084 rs150250443 0.001938 1 516 7089 - - Admin
./. 1 - c.5720G>A r.(?) p.(Arg1907Gln) g.85411683G>A - ALPK3_000085 rs116585466 0.001938 1 516 4144 - - Admin
./. 1 - c.*5C>T r.(=) p.(=) g.85411692C>T - ALPK3_000086 rs3748380 0.266 137 516 4001 - - Admin
./. 1 - c.*49G>A r.(=) p.(=) g.85411736G>A - ALPK3_000087 rs151129622 0.007752 4 516 3446 - - Admin
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