Unique variants in gene QKI

Information The variants shown are described using the NM_006775.2 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.-418C>A r.(=) p.(=) g.163835808C>A - QKI_000001 rs1027336444 0.01 5 488 1783 3 1 Admin
./. 1 - c.-366C>G r.(=) p.(=) g.163835860C>G - QKI_000002 rs1050290395 0.002222 1 450 1224 1 - Admin
./. 1 - c.-168_-154del r.(=) p.(=) g.163836058_163836072del - QKI_000003 rs532554431 0.002222 1 450 1224 - - Admin
./. 1 - c.-140_-129del r.(=) p.(=) g.163836086_163836097del - QKI_000004 rs570868172 0.002222 1 450 1224 - - Admin
./. 1 - c.-66G>C r.(=) p.(=) g.163836160G>C - QKI_000005 rs1005565245 0.003876 2 516 2593 2 - Admin
./. 1 - c.-50_-45del r.(=) p.(=) g.163836176_163836181del - QKI_000006 rs763913542 0.003876 2 516 2593 - - Admin
./. 1 - c.-50_-45dup r.(=) p.(=) g.163836176_163836181dup - QKI_000007 rs763913542 0.003876 2 516 2593 - - Admin
./. 1 - c.-47_-45del r.(=) p.(=) g.163836179_163836181del - QKI_000008 rs763913542 0.003876 2 516 2593 - - Admin
./. 1 - c.-47_-45dup r.(=) p.(=) g.163836179_163836181dup - QKI_000009 rs763913542 0.003876 2 516 2593 - - Admin
./. 1 - c.142+9C>T r.(=) p.(=) g.163836376C>T - QKI_000010 rs2757578 0.326 168 516 4682 - - Admin
./. 1 - c.142+24C>A r.(=) p.(=) g.163836391C>A - QKI_000011 rs199723496 0.007752 4 516 3439 - - Admin
./. 1 - c.142+546C>G r.(=) p.(=) g.163836913C>G - QKI_000012 rs369969568 0.001938 1 516 6579 - - Admin
./. 1 - c.142+550A>G r.(=) p.(=) g.163836917A>G - QKI_000013 rs138509915 0.005814 3 516 6799 - - Admin
./. 1 - c.142+568_142+569insG r.(=) p.(=) g.163836935_163836936insG - QKI_000014 rs779277065 - - - - - - Admin
./. 1 - c.142+614C>T r.(=) p.(=) g.163836981C>T - QKI_000015 rs763635299 0.001938 1 516 8575 - - Admin
./. 1 - c.142+680G>A r.(=) p.(=) g.163837047G>A - QKI_000016 rs149280209 0.001938 1 516 6640 - - Admin
./. 1 - c.142+720_142+725del r.(=) p.(=) g.163837087_163837092del - QKI_000017 rs1316324803 0.003876 2 516 2593 2 - Admin
./. 1 - c.142+721_142+725del r.(=) p.(=) g.163837088_163837092del - QKI_000018 rs1316324803 0.003876 2 516 2593 2 - Admin
./. 1 - c.142+722_142+725del r.(=) p.(=) g.163837089_163837092del - QKI_000019 rs1316324803 0.003876 2 516 2593 2 - Admin
./. 1 - c.143-62T>C r.(=) p.(=) g.163876249T>C - QKI_000020 rs191856884 0.005814 3 516 1912 - - Admin
./. 1 - c.143-51A>G r.(=) p.(=) g.163876260A>G - QKI_000021 rs184098905 0.001938 1 516 2398 - - Admin
./. 1 - c.285+27A>G r.(=) p.(=) g.163876480A>G - QKI_000022 rs779348439 0.001938 1 516 4455 - - Admin
./. 1 - c.285+54_285+55insAG r.(=) p.(=) g.163876507_163876508insAG - QKI_000023 - - - - - - - Admin
./. 1 - c.285+59_285+60del r.(=) p.(=) g.163876512_163876513del - QKI_000024 rs1328176319 - - - - - - Admin
./. 1 - c.285+99T>A r.(=) p.(=) g.163876552T>A - QKI_000025 rs9654569 0.079 39 496 1454 - - Admin
./. 1 - c.285+1851A>T r.(=) p.(=) g.163878304A>T - QKI_000026 rs58679730 0.003876 2 516 4185 - - Admin
./. 1 - c.285+1855G>T r.(=) p.(=) g.163878308G>T - QKI_000027 rs140691070 0.001938 1 516 4480 - - Admin
./. 1 - c.285+2182T>C r.(=) p.(=) g.163878635T>C - QKI_000028 rs73015373 0.014 7 516 2987 - - Admin
./. 1 - c.286-45C>G r.(=) p.(=) g.163899767C>G - QKI_000029 rs375945551 0.001969 1 508 1191 - - Admin
./. 1 - c.286-18_286-17insT r.(=) p.(=) g.163899794_163899795insT - QKI_000030 rs774085496 - - - - - - Admin
./. 1 - c.286-5C>T r.spl? p.? g.163899807C>T - QKI_000031 rs747621557 0.023 10 434 1979 - - Admin
./. 1 - c.286-3C>T r.spl? p.? g.163899809C>T - QKI_000032 rs1158824413 0.013 6 472 2038 6 - Admin
./. 1 - c.286-2A>T r.spl? p.? g.163899810A>T - QKI_000033 rs1409696271 0.013 6 472 2067 6 - Admin
./. 1 - c.286-1G>T r.spl? p.? g.163899811G>T - QKI_000034 rs1300041642 0.013 6 476 2108 6 - Admin
./. 1 - c.402+49C>G r.(=) p.(=) g.163899977C>G - QKI_000035 rs139069121 0.003891 2 514 1801 - - Admin
./. 1 - c.402+68A>C r.(=) p.(=) g.163899996A>C - QKI_000036 rs567839260 0.001953 1 512 1370 - - Admin
./. 1 - c.403-26A>T r.(=) p.(=) g.163955988A>T - QKI_000037 rs201977808 0.003876 2 516 2129 - - Admin
./. 1 - c.546+49C>G r.(=) p.(=) g.163956206C>G - QKI_000038 rs7769366 0.014 7 516 3865 - - Admin
./. 1 - c.546+100T>C r.(=) p.(=) g.163956257T>C - QKI_000039 rs575089093 0.005814 3 516 1623 - - Admin
./. 1 - c.934+17A>G r.(=) p.(=) g.163984768A>G - QKI_000040 rs367646321 0.001938 1 516 3616 - - Admin
./. 1 - c.934+814_934+817del r.(=) p.(=) g.163985565_163985568del - QKI_000041 rs1165736863 0.013 6 476 2108 6 - Admin
./. 1 - c.934+904G>A r.(=) p.(=) g.163985655G>A - QKI_000042 rs41268571 0.109 56 516 6059 - - Admin
./. 1 - c.934+1161T>C r.(=) p.(=) g.163985912T>C - QKI_000043 rs189274361 0.001946 1 514 2025 - - Admin
./. 1 - c.935-909_935-905del r.(=) p.(=) g.163986844_163986848del - QKI_000044 rs201474263 0.001946 1 514 2025 - - Admin
./. 1 - c.935-583G>A r.(=) p.(=) g.163987170G>A - QKI_000045 rs139890146 0.005906 3 508 1638 - - Admin
./. 1 - c.935-55T>C r.(=) p.(=) g.163987698T>C - QKI_000046 rs370333773 0.001953 1 512 2201 - - Admin
./. 1 - c.1009+122A>T r.(=) p.(=) g.163987949A>T - QKI_000047 rs144221599 0.001938 1 516 3041 - - Admin
./. 1 - c.1010-1418A>T r.(=) p.(=) g.163990308A>T - QKI_000048 rs3756879 0.087 44 508 2093 - - Admin
./. 1 - c.1010-1358C>T r.(=) p.(=) g.163990368C>T - QKI_000049 rs568641458 0.001938 1 516 4721 - - Admin
./. 1 - c.1010-1177A>G r.(=) p.(=) g.163990549A>G - QKI_000050 rs1282032835 0.001946 1 514 2659 1 - Admin
./. 1 - c.1010-26_1010-25insT r.(=) p.(=) g.163991700_163991701insT - QKI_000051 rs112825267 - - - - - - Admin
./. 1 - c.1017C>T r.(=) p.(=) g.163991733C>T - QKI_000052 rs370256490 0.001938 1 516 3451 - - Admin
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