Unique variants in gene L3MBTL2

Information The variants shown are described using the NM_031488.4 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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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.25-1390C>T r.(=) p.(=) g.41604310C>T - L3MBTL2_000001 rs1239398570 0.009921 5 504 1227 5 - Admin
./. 1 - c.25-1385G>T r.(=) p.(=) g.41604315G>T - L3MBTL2_000002 rs1456066114 0.007937 4 504 1387 4 - Admin
./. 1 - c.25-1354C>G r.(=) p.(=) g.41604346C>G - L3MBTL2_000003 rs117279218 0.023 12 516 2094 - - Admin
./. 1 - c.25-1347C>T r.(=) p.(=) g.41604353C>T - L3MBTL2_000004 rs139431 0.358 184 514 2207 - - Admin
./. 1 - c.25-1301G>A r.(=) p.(=) g.41604399G>A - L3MBTL2_000005 rs4820432 0.618 319 516 3741 - - Admin
./. 1 - c.25-1258C>T r.(=) p.(=) g.41604442C>T - L3MBTL2_000006 rs755797855 0.001938 1 516 5301 - - Admin
./. 1 - c.25-1180G>A r.(=) p.(=) g.41604520G>A - L3MBTL2_000007 rs978918400 0.001938 1 516 3538 1 - Admin
./. 1 - c.25-1160C>A r.(=) p.(=) g.41604540C>A - L3MBTL2_000008 rs76008395 0.014 7 514 2493 - - Admin
./. 1 - c.25-1143G>A r.(=) p.(=) g.41604557G>A - L3MBTL2_000009 rs139432 0.345 176 510 1992 - - Admin
./. 1 - c.25-1101C>T r.(=) p.(=) g.41604599C>T - L3MBTL2_000010 rs17002327 0.012 6 494 998 - - Admin
./. 1 - c.25-1082A>T r.(=) p.(=) g.41604618A>T - L3MBTL2_000011 rs75278755 0.036 17 472 895 - - Admin
./. 1 - c.25-115T>C r.(=) p.(=) g.41605585T>C - L3MBTL2_000012 rs79103835 0.007905 4 506 1656 - - Admin
./. 1 - c.25-65T>C r.(=) p.(=) g.41605635T>C - L3MBTL2_000013 rs139437 0.348 179 514 3002 - - Admin
./. 1 - c.25-61C>T r.(=) p.(=) g.41605639C>T - L3MBTL2_000014 rs139438 0.348 179 514 3108 - - Admin
./. 1 - c.101G>C r.(?) p.(Arg34Pro) g.41605776G>C - L3MBTL2_000015 rs143455680 0.039 20 516 7464 - - Admin
./. 1 - c.204G>A r.(=) p.(=) g.41605879G>A - L3MBTL2_000016 rs749482080 0.001938 1 516 6097 - - Admin
./. 1 - c.262+93A>C r.(=) p.(=) g.41606030A>C - L3MBTL2_000017 rs139439 0.335 170 508 1960 - - Admin
./. 1 - c.263-38T>C r.(=) p.(=) g.41609859T>C - L3MBTL2_000018 rs139450 0.366 189 516 9508 - - Admin
./. 1 - c.390G>A r.(=) p.(=) g.41610024G>A - L3MBTL2_000019 rs139451 0.364 188 516 7296 - - Admin
./. 1 - c.396+29G>A r.(=) p.(=) g.41610059G>A - L3MBTL2_000020 rs7291776 0.005814 3 516 5440 - - Admin
./. 1 - c.396+51G>A r.(=) p.(=) g.41610081G>A - L3MBTL2_000021 - 0.001938 1 516 4610 1 - Admin
./. 1 - c.521-162T>G r.(=) p.(=) g.41612965T>G - L3MBTL2_000022 rs85220 0.328 160 488 1688 - - Admin
./. 1 - c.582C>T r.(=) p.(=) g.41613188C>T - L3MBTL2_000023 rs9611519 0.262 135 516 8230 - - Admin
./. 1 - c.600+40G>A r.(=) p.(=) g.41613246G>A - L3MBTL2_000024 rs114151485 0.00969 5 516 4087 - - Admin
./. 1 - c.600+44C>A r.(=) p.(=) g.41613250C>A - L3MBTL2_000025 rs114730726 0.016 8 516 3781 - - Admin
./. 1 - c.600+97C>T r.(=) p.(=) g.41613303C>T - L3MBTL2_000026 rs9611520 0.236 120 508 2201 - - Admin
./. 1 - c.601-52C>T r.(=) p.(=) g.41615371C>T - L3MBTL2_000027 rs184632106 0.001946 1 514 2916 - - Admin
./. 1 - c.601-47C>T r.(=) p.(=) g.41615376C>T - L3MBTL2_000028 rs2273085 0.294 151 514 3082 - - Admin
./. 1 - c.601-19C>T r.(=) p.(=) g.41615404C>T - L3MBTL2_000029 rs115205525 0.016 8 516 4257 - - Admin
./. 1 - c.718+174G>A r.(=) p.(=) g.41615714G>A - L3MBTL2_000030 - 0.001946 1 514 2965 1 - Admin
./. 1 - c.719-120C>T r.(=) p.(=) g.41616618C>T - L3MBTL2_000031 rs147294507 0.004167 2 480 929 - - Admin
./. 1 - c.719-74del r.(=) p.(=) g.41616664del - L3MBTL2_000033 rs397867987 0.004167 2 480 929 - - Admin
./. 1 - c.719-74dup r.(=) p.(=) g.41616664dup - L3MBTL2_000032 rs397867987 0.004167 2 480 929 - - Admin
./. 1 - c.719-64A>C r.(=) p.(=) g.41616674A>C - L3MBTL2_000034 rs12166239 0.012 6 516 2912 - - Admin
./. 1 - c.719-51_719-50insA r.(=) p.(=) g.41616687_41616688insA - L3MBTL2_000035 rs199909901 - - - - - - Admin
./. 1 - c.719-42C>T r.(=) p.(=) g.41616696C>T - L3MBTL2_000036 rs74768384 0.001938 1 516 4676 - - Admin
./. 1 - c.759C>T r.(=) p.(=) g.41616778C>T - L3MBTL2_000037 rs35244576 0.007752 4 516 7660 - - Admin
./. 1 - c.854-43_854-42insG r.(=) p.(=) g.41617160_41617161insG - L3MBTL2_000038 rs139471 - - - - - - Admin
./. 1 - c.942+27G>C r.(=) p.(=) g.41617318G>C - L3MBTL2_000039 rs139472 0.682 352 516 13626 - - Admin
./. 1 - c.942+69T>G r.(=) p.(=) g.41617360T>G - L3MBTL2_000040 rs116427566 0.012 6 516 10294 - - Admin
./. 1 - c.942+254C>T r.(=) p.(=) g.41617545C>T - L3MBTL2_000041 rs570015101 0.001938 1 516 5326 - - Admin
./. 1 - c.943-91C>T r.(=) p.(=) g.41619933C>T - L3MBTL2_000042 rs138686266 0.001938 1 516 3319 - - Admin
./. 1 - c.943-79G>A r.(=) p.(=) g.41619945G>A - L3MBTL2_000043 rs116507124 0.012 6 516 3599 - - Admin
./. 1 - c.1010T>C r.(?) p.(Val337Ala) g.41620091T>C - L3MBTL2_000044 rs34289721 0.001938 1 516 9152 - - Admin
./. 1 - c.1057C>T r.(=) p.(=) g.41620138C>T - L3MBTL2_000045 rs139346290 0.001938 1 516 9186 - - Admin
./. 1 - c.1251+20C>T r.(=) p.(=) g.41620825C>T - L3MBTL2_000046 rs73176644 0.033 17 516 8719 - - Admin
./. 1 - c.1357-84G>A r.(=) p.(=) g.41621714G>A - L3MBTL2_000047 rs2179744 0.262 129 492 2116 - - Admin
./. 1 - c.1389G>T r.(=) p.(=) g.41621830G>T - L3MBTL2_000048 rs150457090 0.001938 1 516 6923 - - Admin
./. 1 - c.1504+22C>T r.(=) p.(=) g.41621967C>T - L3MBTL2_000049 rs755964262 0.001938 1 516 8308 - - Admin
./. 1 - c.1504+102G>A r.(=) p.(=) g.41622047G>A - L3MBTL2_000050 rs151263490 0.003876 2 516 3013 - - Admin
./. 1 - c.1563C>T r.(=) p.(=) g.41622724C>T - L3MBTL2_000051 rs115624343 0.003876 2 516 7804 - - Admin
./. 1 - c.1587+22A>G r.(=) p.(=) g.41622770A>G - L3MBTL2_000052 rs9623350 0.001938 1 516 5663 - - Admin
./. 1 - c.1588-74G>T r.(=) p.(=) g.41623019G>T - L3MBTL2_000053 rs17002359 0.012 6 514 2642 - - Admin
./. 1 - c.1588-64C>T r.(=) p.(=) g.41623029C>T - L3MBTL2_000054 rs546336101 0.005814 3 516 3163 - - Admin
./. 1 - c.1819G>T r.(?) p.(Ala607Ser) g.41623324G>T - L3MBTL2_000055 rs142256697 0.001938 1 516 9075 - - Admin
./. 1 - c.1822+7G>T r.(=) p.(=) g.41623334G>T - L3MBTL2_000056 rs1229119551 0.001938 1 516 8715 1 - Admin
./. 1 - c.1822+24A>G r.(=) p.(=) g.41623351A>G - L3MBTL2_000057 rs56361238 0.116 60 516 7808 - - Admin
./. 1 - c.1822+188G>A r.(=) p.(=) g.41623515G>A - L3MBTL2_000058 rs996366564 0.001938 1 516 7725 1 - Admin
./. 1 - c.1836G>A r.(=) p.(=) g.41623821G>A - L3MBTL2_000059 rs371517606 0.001938 1 516 8107 - - Admin
./. 1 - c.1888+61_1888+62insT r.(=) p.(=) g.41623934_41623935insT - L3MBTL2_000060 rs1180365437 - - - - - - Admin
./. 1 - c.2006-63_2006-62insCCCC r.(=) p.(=) g.41626080_41626081insCCCC - L3MBTL2_000061 - - - - - - - Admin
./. 1 - c.2006-60G>C r.(=) p.(=) g.41626083G>C - L3MBTL2_000062 rs560145749 0.053 24 452 1851 20 2 Admin
./. 1 - c.2006-60_2006-59insCCCC r.(=) p.(=) g.41626083_41626084insCCCC - L3MBTL2_000063 rs560145749 - - - - - - Admin
./. 1 - c.2006-54A>C r.(=) p.(=) g.41626089A>C - L3MBTL2_000064 rs879172048 0.163 28 172 2257 - - Admin
./. 1 - c.2006-49T>C r.(=) p.(=) g.41626094T>C - L3MBTL2_000065 rs745984033 0.121 21 174 2592 - - Admin
./. 1 - c.2006-45_2006-31del r.(=) p.(=) g.41626098_41626112del - L3MBTL2_000066 rs745494204 0.121 21 174 2592 - - Admin
./. 1 - c.2006-31G>C r.(=) p.(=) g.41626112G>C - L3MBTL2_000067 rs772783005 0.001992 1 502 3717 1 - Admin
./. 1 - c.2074C>T r.(=) p.(=) g.41626211C>T - L3MBTL2_000068 rs775208900 0.001938 1 516 9731 - - Admin
./. 1 - c.2085C>T r.(=) p.(=) g.41626222C>T - L3MBTL2_000069 rs141996268 0.001938 1 516 9684 - - Admin
./. 1 - c.*120C>T r.(=) p.(=) g.41626375C>T - L3MBTL2_000070 rs73176646 0.007752 4 516 3567 - - Admin
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