All transcript variants in gene CHKB

Information The variants shown are described using the NM_005198.4 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
Legend  

Effect     

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     
./. - c.-97G>C r.(=) p.(=) g.51021307C>G - CHKB_000027 rs114094125 0.005882 3 510 1559 - - Admin
./. - c.-74_-55del r.(=) p.(=) g.51021265_51021284del - CHKB_000025 rs144647670 0.003876 2 516 8558 2 0 Admin
./. - c.-48G>T r.(=) p.(=) g.51021258C>A - CHKB_000023 rs41282357 0.003876 2 516 2939 - - Admin
./. - c.149A>G r.(?) p.(Tyr50Cys) g.51021062T>C - CHKB_000021 rs138205828 0.001938 1 516 9118 - - Admin
./. - c.275C>T r.(?) p.(Pro92Leu) g.51020736G>A - CHKB_000019 rs140867913 0.001938 1 516 4655 - - Admin
./. - c.333+10G>T r.(=) p.(=) g.51020668C>A - CHKB_000018 rs86337 0.587 303 516 3361 - - Admin
./. - c.333+94A>C r.(=) p.(=) g.51020584T>G - CHKB_000017 rs373168311 0.003922 2 510 1632 - - Admin
./. - c.334-92A>G r.(=) p.(=) g.51020383T>C - CHKB_000016 rs149303496 0.017 9 516 6459 - - Admin
./. - c.448-87C>G r.(=) p.(=) g.51020069G>C - CHKB_000015 rs2269381 0.048 25 516 6194 - - Admin
./. - c.448-23C>T r.(=) p.(=) g.51020005G>A - CHKB_000014 - 0.003876 2 516 8558 2 0 Admin
./. - c.457T>C r.(=) p.(=) g.51019973A>G - CHKB_000013 rs146693439 0.003876 2 516 9082 - - Admin
./. - c.482C>T r.(?) p.(Pro161Leu) g.51019948G>A - CHKB_000012 rs1007072858 0.001938 1 516 9080 1 0 Admin
./. - c.581+138C>G r.(=) p.(=) g.51019711G>C - CHKB_000011 rs41282355 0.006356 3 472 909 - - Admin
./. - c.582-182G>A r.(=) p.(=) g.51019271C>T - CHKB_000010 rs6010013 0.051 26 514 2194 - - Admin
./. - c.582-113G>C r.(=) p.(=) g.51019202C>G - CHKB_000009 rs114349343 0.00969 5 516 6698 - - Admin
./. - c.582-53C>A r.(=) p.(=) g.51019142G>T - CHKB_000008 rs74846249 0.039 20 516 9309 - - Admin
./. - c.582-49G>A r.(=) p.(=) g.51019138C>T - CHKB_000007 rs114810820 0.00969 5 516 9361 - - Admin
./. - c.582-24T>G r.(=) p.(=) g.51019113A>C - CHKB_000006 rs75187587 0.029 15 516 9383 - - Admin
./. - c.677+52G>T r.(=) p.(=) g.51018942C>A - CHKB_000005 rs6010012 0.039 20 516 4740 - - Admin
./. - c.678-66G>A r.(=) p.(=) g.51018911C>T - CHKB_000004 rs2269382 0.047 24 516 4876 - - Admin
./. - c.818+40T>C r.(=) p.(=) g.51018579A>G - CHKB_000003 rs140514 0.43 222 516 6178 - - Admin
./. - c.819-53C>T r.(=) p.(=) g.51018564G>A - CHKB_000002 rs74605815 0.00969 5 516 6014 - - Admin
./. - c.925C>G r.(?) p.(Gln309Glu) g.51018405G>C - CHKB_000001 rs139059552 0.001938 1 516 6124 - - Admin
./. - c.983A>G r.(?) p.(Gln328Arg) g.51018204T>C - CHKB_000029 rs141381896 0.003876 2 516 8471 - - Admin
./. - c.1113+61T>C r.(=) p.(=) g.51017794A>G - CHKB_000028 rs762676 0.068 35 516 6052 - - Admin
./. - c.1113+81G>A r.(=) p.(=) g.51017774C>T - CHKB_000026 rs185353265 0.001938 1 516 6091 - - Admin
./. - c.1114-29C>T r.(=) p.(=) g.51017713G>A - CHKB_000024 rs762677 0.07 36 516 8393 - - Admin
./. - c.*70G>A r.(=) p.(=) g.51017540C>T - CHKB_000022 rs886876527 0.001938 1 516 3037 1 0 Admin
./. - c.*96G>C r.(=) p.(=) g.51017514C>G - CHKB_000020 rs17001634 0.035 18 516 2169 - - Admin
./. - c.*1250C>T r.(=) p.(=) g.51016360G>A - CPT1B_000069 rs6520157 0.033 17 510 3094 - - Admin
./. - c.*1438C>T r.(=) p.(=) g.51016172G>A - CPT1B_000068 rs201170138 0.001938 1 516 7612 - - Admin
./. - c.*1500A>G r.(=) p.(=) g.51016110T>C - CPT1B_000067 rs1047691556 0.001938 1 516 4216 1 0 Admin
./. - c.*1512T>C r.(=) p.(=) g.51016098A>G - CPT1B_000066 rs5770916 0.137 70 512 3656 - - Admin
./. - c.*1533C>T r.(=) p.(=) g.51016077G>A - CPT1B_000065 rs557397417 0.001946 1 514 3103 - - Admin
./. - c.*1772A>G r.(=) p.(=) g.51015838T>C - CPT1B_000064 rs3213445 0.066 34 516 9971 - - Admin
./. - c.*1817T>C r.(=) p.(=) g.51015793A>G - CPT1B_000063 rs140878554 0.003876 2 516 9322 - - Admin
./. - c.*1904G>A r.(=) p.(=) g.51015706C>T - CPT1B_000062 rs144768302 0.001938 1 516 6416 - - Admin
./. - c.*1936G>A r.(=) p.(=) g.51015674C>T - CPT1B_000061 rs3213446 0.068 35 516 5062 - - Admin
./. - c.*2120C>T r.(=) p.(=) g.51015490G>A - CPT1B_000060 rs187632508 0.005859 3 512 2592 - - Admin
./. - c.*2129C>T r.(=) p.(=) g.51015481G>A - CPT1B_000059 rs131759 0.414 212 512 2868 - - Admin
./. - c.*2400C>G r.(=) p.(=) g.51015210G>C - CPT1B_000058 rs140515 0.613 315 514 3211 - - Admin
./. - c.*2536A>G r.(=) p.(=) g.51015074T>C - CPT1B_000057 rs748462473 0.001938 1 516 5731 - - Admin
./. - c.*2541del r.(=) p.(=) g.51015069del - CPT1B_000056 rs1457067177 0.001938 1 516 4057 1 0 Admin
./. - c.*2570G>A r.(=) p.(=) g.51015040C>T - CPT1B_000055 rs202135722 0.001938 1 516 7327 - - Admin
./. - c.*2770G>A r.(=) p.(=) g.51014840C>T - CPT1B_000054 rs8137301 0.076 39 516 8626 - - Admin
./. - c.*2995C>T r.(=) p.(=) g.51014615G>A - CPT1B_000053 rs373385903 0.001938 1 516 9372 - - Admin
./. - c.*3026C>T r.(=) p.(=) g.51014584G>A - CPT1B_000052 rs561006936 0.003876 2 516 9249 - - Admin
./. - c.*3038G>A r.(=) p.(=) g.51014572C>T - CPT1B_000051 rs749784364 0.001938 1 516 9138 - - Admin
./. - c.*3102C>T r.(=) p.(=) g.51014508G>A - CPT1B_000050 rs374942225 0.001938 1 516 9057 - - Admin
./. - c.*4538C>T r.(=) p.(=) g.51013072G>A - CPT1B_000049 rs1557503 0.07 36 516 5666 - - Admin
./. - c.*4756C>T r.(=) p.(=) g.51012854G>A - CPT1B_000048 rs76233096 0.014 7 516 9493 - - Admin
./. - c.*4835G>A r.(=) p.(=) g.51012775C>T - CPT1B_000047 rs2269383 0.019 10 516 6669 - - Admin
Legend