All transcript variants in gene IBTK

Information The variants shown are described using the NM_015525.2 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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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.-96C>T r.(=) p.(=) g.82950299G>A - IBTK_000082 - 0.001976 1 506 1919 1 0 Admin
./. - c.-82A>G r.(=) p.(=) g.82950285T>C - IBTK_000081 rs763002917 0.001946 1 514 2394 - - Admin
./. - c.15G>A r.(?) p.(Met5Ile) g.82950189C>T - IBTK_000080 rs111794573 0.001938 1 516 7881 - - Admin
./. - c.322-87A>T r.(=) p.(=) g.82944059T>A - IBTK_000079 rs113375767 0.027 6 222 189 - - Admin
./. - c.322-7_322-4del r.spl? p.? g.82943976_82943979del - IBTK_000078 rs780175439 0.007782 4 514 2165 - - Admin
./. - c.324T>C r.(=) p.(=) g.82943970A>G - IBTK_000077 rs115088772 0.007782 4 514 2165 - - Admin
./. - c.419-97G>C r.(=) p.(=) g.82941656C>G - IBTK_000076 rs9449451 0.052 13 248 226 - - Admin
./. - c.543+21A>G r.(=) p.(=) g.82941414T>C - IBTK_000075 rs115047222 0.001938 1 516 2879 - - Admin
./. - c.654+84_654+85insT r.(=) p.(=) g.82936824_82936825insA - IBTK_000074 rs67652569 - - - - - - Admin
./. - c.654+98G>A r.(=) p.(=) g.82936811C>T - IBTK_000073 rs79330622 0.012 6 492 1270 - - Admin
./. - c.654+124T>C r.(=) p.(=) g.82936785A>G - IBTK_000072 rs72900673 0.006198 3 484 894 - - Admin
./. - c.655-31_655-13del r.(=) p.(=) g.82935377_82935395del - IBTK_000071 rs146603947 0.003968 2 504 3139 2 0 Admin
./. - c.826-23C>A r.(=) p.(=) g.82933925G>T - IBTK_000070 rs370283667 0.001938 1 516 2871 - - Admin
./. - c.972G>A r.(=) p.(=) g.82933309C>T - IBTK_000069 rs9361904 0.202 104 516 5795 - - Admin
./. - c.1125-8del r.(=) p.(=) g.82930438del - IBTK_000068 rs751153381 0.003968 2 504 3139 - - Admin
./. - c.1125-8dup r.(=) p.(=) g.82930438dup - IBTK_000067 rs751153381 0.003968 2 504 3139 - - Admin
./. - c.1125-6A>T r.(=) p.(=) g.82930436T>A - IBTK_000066 - 0.003968 2 504 3139 2 0 Admin
./. - c.1125-4C>T r.spl? p.? g.82930434G>A - IBTK_000065 - 0.003876 2 516 3367 2 0 Admin
./. - c.1125-2A>T r.spl? p.? g.82930432T>A - IBTK_000064 rs1463121615 0.001938 1 516 3528 1 0 Admin
./. - c.1192T>C r.(=) p.(=) g.82930363A>G - IBTK_000063 rs151074716 0.001938 1 516 7374 - - Admin
./. - c.1248+80G>A r.(=) p.(=) g.82930227C>T - IBTK_000062 rs186990845 0.005814 3 516 4103 - - Admin
./. - c.1249-65T>C r.(=) p.(=) g.82927919A>G - IBTK_000061 - 0.001938 1 516 3320 1 0 Admin
./. - c.1412G>A r.(?) p.(Ser471Asn) g.82927691C>T - IBTK_000060 rs147304035 0.003876 2 516 2777 - - Admin
./. - c.1427A>C r.(?) p.(Glu476Ala) g.82925967T>G - IBTK_000059 rs143498384 0.001938 1 516 2831 - - Admin
./. - c.1601+4T>C r.spl? p.? g.82925789A>G - IBTK_000058 rs111690568 0.001938 1 516 4054 - - Admin
./. - c.1601+74G>C r.(=) p.(=) g.82925719C>G - IBTK_000057 rs115715886 0.001961 1 510 1271 - - Admin
./. - c.1602-99T>C r.(=) p.(=) g.82924645A>G - IBTK_000056 rs6912968 0.634 288 454 1090 - - Admin
./. - c.1837G>T r.(?) p.(Ala613Ser) g.82924311C>A - IBTK_000055 rs61745123 0.001938 1 516 5374 - - Admin
./. - c.2204+44C>T r.(=) p.(=) g.82923900G>A - IBTK_000054 rs369961652 0.001946 1 514 1749 - - Admin
./. - c.2205-61T>C r.(=) p.(=) g.82922571A>G - IBTK_000053 rs6900750 0.145 70 482 1048 - - Admin
./. - c.2291+36G>A r.(=) p.(=) g.82922388C>T - IBTK_000052 rs9353057 0.2 103 516 5616 - - Admin
./. - c.2292-50C>T r.(=) p.(=) g.82921339G>A - IBTK_000051 rs9341913 0.203 105 516 2852 - - Admin
./. - c.2307C>T r.(=) p.(=) g.82921274G>A - IBTK_000050 rs184558709 0.001938 1 516 5911 - - Admin
./. - c.2509+89_2509+92del r.(=) p.(=) g.82920439_82920442del - IBTK_000049 rs200126695 0.001938 1 516 3081 - - Admin
./. - c.2510-101del r.(=) p.(=) g.82914776del - IBTK_000048 rs1041869499 0.001938 1 516 2517 1 0 Admin
./. - c.2510-17T>C r.(=) p.(=) g.82914692A>G - IBTK_000047 rs748897014 0.001938 1 516 3081 - - Admin
./. - c.2611+62T>C r.(=) p.(=) g.82914512A>G - IBTK_000046 rs1299710915 0.001938 1 516 2517 1 0 Admin
./. - c.2611+114C>T r.(=) p.(=) g.82914460G>A - IBTK_000045 rs9361899 0.174 85 488 1281 - - Admin
./. - c.2612-65G>A r.(=) p.(=) g.82912427C>T - IBTK_000044 rs113035688 0.001946 1 514 2477 - - Admin
./. - c.2729+92A>C r.(=) p.(=) g.82912153T>G - IBTK_000043 rs7771978 0.336 152 452 806 - - Admin
./. - c.2730-112A>C r.(=) p.(=) g.82911311T>G - IBTK_000042 rs143044074 0.002016 1 496 1008 - - Admin
./. - c.2730-100G>C r.(=) p.(=) g.82911299C>G - IBTK_000041 rs73470024 0.001976 1 506 1265 - - Admin
./. - c.2730-86A>C r.(=) p.(=) g.82911285T>G - IBTK_000040 rs1045413773 0.001953 1 512 1659 1 0 Admin
./. - c.2730-71C>T r.(=) p.(=) g.82911270G>A - IBTK_000039 rs144717297 0.009766 5 512 2076 - - Admin
./. - c.2748C>T r.(=) p.(=) g.82911181G>A - IBTK_000038 rs150434601 0.001938 1 516 4377 - - Admin
./. - c.2791-66A>C r.(=) p.(=) g.82910491T>G - IBTK_000037 rs576105622 0.02 10 488 1220 - - Admin
./. - c.2791-61A>C r.(=) p.(=) g.82910486T>G - IBTK_000036 rs796949492 0.02 10 492 1311 - - Admin
./. - c.2791-53del r.(=) p.(=) g.82910478del - IBTK_000035 rs769508798 0.001938 1 516 4139 - - Admin
./. - c.2791-53_2791-46del r.(=) p.(=) g.82910471_82910478del - IBTK_000033 rs769508798 0.001938 1 516 4139 - - Admin
./. - c.2791-50A>C r.(=) p.(=) g.82910475T>G - IBTK_000034 rs554032166 0.011 5 476 1537 - - Admin
./. - c.2791-15T>G r.(=) p.(=) g.82910440A>C - IBTK_000032 rs541607231 0.001938 1 516 4139 - - Admin
./. - c.2912+57G>C r.(=) p.(=) g.82910247C>G - IBTK_000031 rs4706938 0.331 120 362 779 - - Admin
./. - c.2913-80T>G r.(=) p.(=) g.82910050A>C - IBTK_000030 rs114405583 0.002049 1 488 1374 - - Admin
./. - c.2913-46A>G r.(=) p.(=) g.82910016T>C - IBTK_000029 rs373942036 0.001946 1 514 2269 - - Admin
./. - c.3025+114T>C r.(=) p.(=) g.82909744A>G - IBTK_000028 rs116719308 0.012 6 516 3903 - - Admin
./. - c.3026-106A>G r.(=) p.(=) g.82906269T>C - IBTK_000027 rs75361488 0.009479 4 422 578 - - Admin
./. - c.3026-35A>G r.(=) p.(=) g.82906198T>C - IBTK_000026 rs138739466 0.016 8 516 2190 - - Admin
./. - c.3188C>T r.(?) p.(Pro1063Leu) g.82904346G>A - IBTK_000025 rs78177295 0.001938 1 516 6574 - - Admin
./. - c.3339-101T>C r.(=) p.(=) g.82901697A>G - IBTK_000024 rs112378191 0.001946 1 514 2121 - - Admin
./. - c.3339-10T>C r.(=) p.(=) g.82901606A>G - IBTK_000023 rs142130349 0.001938 1 516 4814 - - Admin
./. - c.3421T>A r.(?) p.(Ser1141Thr) g.82901514A>T - IBTK_000022 rs116533551 0.012 6 516 6386 - - Admin
./. - c.3431+143C>T r.(=) p.(=) g.82901361G>A - IBTK_000021 rs113032214 0.003937 2 508 1801 - - Admin
./. - c.3432-145G>C r.(=) p.(=) g.82901078C>G - IBTK_000020 rs9350944 0.14 57 408 705 - - Admin
./. - c.3432-139_3432-136del r.(=) p.(=) g.82901069_82901072del - IBTK_000019 rs201987966 0.019 9 462 802 - - Admin
./. - c.3432-133A>C r.(=) p.(=) g.82901066T>G - IBTK_000018 rs45508198 0.019 9 462 802 - - Admin
./. - c.3446A>G r.(?) p.(His1149Arg) g.82900919T>C - IBTK_000017 rs145495116 0.001938 1 516 5462 - - Admin
./. - c.3554C>T r.(?) p.(Ala1185Val) g.82900811G>A - IBTK_000016 rs9449444 0.194 100 516 7045 - - Admin
./. - c.3575+45G>T r.(=) p.(=) g.82900745C>A - IBTK_000015 rs567183457 0.001938 1 516 3594 - - Admin
./. - c.3575+46C>T r.(=) p.(=) g.82900744G>A - IBTK_000014 rs189741070 0.001938 1 516 3587 - - Admin
./. - c.3575+2031C>T r.(=) p.(=) g.82898759G>A - IBTK_000013 rs9361897 0.186 96 516 2903 - - Admin
./. - c.3575+2043_3575+2044insT r.(=) p.(=) g.82898746_82898747insA - IBTK_000012 rs201887108 - - - - - - Admin
./. - c.3576-37A>G r.(=) p.(=) g.82891782T>C - IBTK_000011 rs780439456 0.001938 1 516 3233 - - Admin
./. - c.3576-21G>T r.(=) p.(=) g.82891766C>A - IBTK_000010 rs116668372 0.001938 1 516 3677 - - Admin
./. - c.3725+33C>T r.(=) p.(=) g.82891563G>A - IBTK_000009 rs778490122 0.002024 1 494 1014 - - Admin
./. - c.3726-1761T>C r.(=) p.(=) g.82884916A>G - IBTK_000008 rs115732626 0.006048 3 496 1035 - - Admin
./. - c.3726-1707G>A r.(=) p.(=) g.82884862C>T - IBTK_000007 rs190776097 0.003876 2 516 2446 - - Admin
./. - c.3726-106G>T r.(=) p.(=) g.82883261C>A - IBTK_000006 rs191440276 0.004386 2 456 704 - - Admin
./. - c.3726-83A>G r.(=) p.(=) g.82883238T>C - IBTK_000005 rs197245 0.298 142 476 1145 - - Admin
./. - c.3797+104C>T r.(=) p.(=) g.82882980G>A - IBTK_000004 rs10214788 0.172 89 516 2226 - - Admin
./. - c.3807A>G r.(=) p.(=) g.82882220T>C - IBTK_000003 rs199718568 0.001938 1 516 3031 - - Admin
./. - c.3924G>A r.(=) p.(=) g.82882103C>T - IBTK_000002 rs16893967 0.00969 5 516 5602 - - Admin
./. - c.3930+97_3930+101del r.(=) p.(=) g.82881996_82882000del - IBTK_000001 rs373931500 0.001938 1 516 3733 - - Admin
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