Full data view for gene BCL11B

Information The variants shown are described using the NM_138576.2 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-55_-54insC r.(=) p.(=) g.99737609_99737610insG Copied from the Exome Variant Server BCL11B_000067 134/10774 64/7174 70/3600 - - - - - - -
?/? c.58+42C>T r.(=) p.(=) g.99737456G>A Copied from the Exome Variant Server BCL11B_000066 1/12882 0/8512 1/4370 - - - - - - -
?/? c.58+46G>A r.(=) p.(=) g.99737452C>T Copied from the Exome Variant Server BCL11B_000065 2/12816 0/8476 2/4340 - - - - - - -
?/? c.99C>T r.(=) p.(=) g.99724136G>A Copied from the Exome Variant Server BCL11B_000064 2/13006 1/8600 1/4406 - - - - - - -
?/? c.103G>T r.(?) p.(Gly35Cys) g.99724132C>A Copied from the Exome Variant Server BCL11B_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.140T>C r.(?) p.(Met47Thr) g.99724095A>G Copied from the Exome Variant Server BCL11B_000062 2/13006 2/8600 0/4406 - - - - - - -
?/? c.246C>T r.(=) p.(=) g.99723989G>A Copied from the Exome Variant Server BCL11B_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.287A>G r.(?) p.(Asp96Gly) g.99723948T>C Copied from the Exome Variant Server BCL11B_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.293C>T r.(?) p.(Pro98Leu) g.99723942G>A Copied from the Exome Variant Server BCL11B_000059 9/13006 9/8600 0/4406 - - - - - - -
?/? c.330C>T r.(=) p.(=) g.99723905G>A Copied from the Exome Variant Server BCL11B_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.336G>A r.(=) p.(=) g.99723899C>T Copied from the Exome Variant Server BCL11B_000057 5/13006 5/8600 0/4406 - - - - - - -
?/? c.363C>T r.(=) p.(=) g.99723872G>A Copied from the Exome Variant Server BCL11B_000056 4/13006 0/8600 4/4406 - - - - - - -
?/? c.419A>C r.(?) p.(Asn140Thr) g.99723816T>G Copied from the Exome Variant Server BCL11B_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.427+5G>A r.spl? p.? g.99723803C>T Copied from the Exome Variant Server BCL11B_000054 3/13006 3/8600 0/4406 - - - - - - -
?/? c.484C>A r.(?) p.(Pro162Thr) g.99697838G>T Copied from the Exome Variant Server BCL11B_000053 1/12972 0/8586 1/4386 - - - - - - -
?/? c.496G>A r.(?) p.(Val166Met) g.99697826C>T Copied from the Exome Variant Server BCL11B_000051 1/12982 1/8596 0/4386 - - - - - - -
?/? c.525C>T r.(=) p.(=) g.99697797G>A Copied from the Exome Variant Server BCL11B_000049 1/12990 1/8600 0/4390 - - - - - - -
?/? c.543C>T r.(=) p.(=) g.99697779G>A Copied from the Exome Variant Server BCL11B_000052 15/12988 13/8592 2/4396 - - - - - - -
?/? c.551C>T r.(?) p.(Pro184Leu) g.99697771G>A Copied from the Exome Variant Server BCL11B_000050 1/12986 0/8584 1/4402 - - - - - - -
?/? c.605C>T r.(?) p.(Thr202Met) g.99697717G>A Copied from the Exome Variant Server BCL11B_000048 2/12996 2/8590 0/4406 - - - - - - -
?/? c.640+12C>T r.(=) p.(=) g.99697670G>A Copied from the Exome Variant Server BCL11B_000047 1/12988 0/8588 1/4400 - - - - - - -
?/? c.640+17C>T r.(=) p.(=) g.99697665G>A Copied from the Exome Variant Server BCL11B_000046 122/12970 115/8578 7/4392 - - - - - - -
?/? c.640+32C>T r.(=) p.(=) g.99697650G>A Copied from the Exome Variant Server BCL11B_000045 11/12936 0/8560 11/4376 - - - - - - -
?/? c.640+47G>T r.(=) p.(=) g.99697635C>A Copied from the Exome Variant Server BCL11B_000044 1/12904 1/8548 0/4356 - - - - - - -
?/? c.641-14G>A r.(=) p.(=) g.99642546C>T Copied from the Exome Variant Server BCL11B_000043 1/13000 0/8596 1/4404 - - - - - - -
?/? c.641-10_641-9del r.(=) p.(=) g.99642541_99642542del Copied from the Exome Variant Server BCL11B_000042 1/12512 0/8250 1/4262 - - - - - - -
?/? c.728C>T r.(?) p.(Thr243Met) g.99642445G>A Copied from the Exome Variant Server BCL11B_000041 1/12996 1/8594 0/4402 - - - - - - -
?/? c.774G>A r.(=) p.(=) g.99642399C>T Copied from the Exome Variant Server BCL11B_000040 1/12928 0/8552 1/4376 - - - - - - -
?/? c.800C>T r.(?) p.(Pro267Leu) g.99642373G>A Copied from the Exome Variant Server BCL11B_000039 1/12680 1/8360 0/4320 - - - - - - -
?/? c.813G>C r.(=) p.(=) g.99642360C>G Copied from the Exome Variant Server BCL11B_000038 2061/12528 1391/8258 670/4270 - - - - - - -
?/? c.933G>T r.(=) p.(=) g.99642240C>A Copied from the Exome Variant Server BCL11B_000037 4/12126 3/8006 1/4120 - - - - - - -
?/? c.939G>A r.(=) p.(=) g.99642234C>T Copied from the Exome Variant Server BCL11B_000036 1/12190 0/8062 1/4128 - - - - - - -
?/? c.1179C>T r.(=) p.(=) g.99641994G>A Copied from the Exome Variant Server BCL11B_000035 7/11694 0/7794 7/3900 - - - - - - -
?/? c.1254G>A r.(=) p.(=) g.99641919C>T Copied from the Exome Variant Server BCL11B_000034 1/12824 0/8508 1/4316 - - - - - - -
?/? c.1264_1265del r.(?) p.(Pro422Alafs*94) g.99641908_99641909del Copied from the Exome Variant Server BCL11B_000033 7/12364 2/8184 5/4180 - - - - - - -
?/? c.1296C>T r.(=) p.(=) g.99641877G>A Copied from the Exome Variant Server BCL11B_000032 1/13000 0/8598 1/4402 - - - - - - -
?/? c.1317G>A r.(=) p.(=) g.99641856C>T Copied from the Exome Variant Server BCL11B_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1350G>A r.(=) p.(=) g.99641823C>T Copied from the Exome Variant Server BCL11B_000030 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1437C>T r.(=) p.(=) g.99641736G>A Copied from the Exome Variant Server BCL11B_000029 32/12994 1/8594 31/4400 - - - - - - -
?/? c.1446C>A r.(=) p.(=) g.99641727G>T Copied from the Exome Variant Server BCL11B_000028 1/12964 1/8574 0/4390 - - - - - - -
?/? c.1617G>A r.(=) p.(=) g.99641556C>T Copied from the Exome Variant Server BCL11B_000027 1/12350 1/8178 0/4172 - - - - - - -
?/? c.1627_1629del r.(?) p.(Glu543del) g.99641544_99641546del Copied from the Exome Variant Server BCL11B_000026 803/11062 544/7288 259/3774 - - - - - - -
?/? c.1635A>C r.(=) p.(=) g.99641538T>G Copied from the Exome Variant Server BCL11B_000025 1/12390 1/8210 0/4180 - - - - - - -
?/? c.1680G>A r.(=) p.(=) g.99641493C>T Copied from the Exome Variant Server BCL11B_000024 1/12268 0/8100 1/4168 - - - - - - -
?/? c.1710_1713del r.(?) p.(Gly572Cysfs*32) g.99641460_99641463del Copied from the Exome Variant Server BCL11B_000023 86/11236 48/7402 38/3834 - - - - - - -
?/? c.1789A>G r.(?) p.(Lys597Glu) g.99641384T>C Copied from the Exome Variant Server BCL11B_000022 1/12474 1/8220 0/4254 - - - - - - -
?/? c.1795A>G r.(?) p.(Met599Val) g.99641378T>C Copied from the Exome Variant Server BCL11B_000021 1/12486 1/8222 0/4264 - - - - - - -
?/? c.1845C>T r.(=) p.(=) g.99641328G>A Copied from the Exome Variant Server BCL11B_000020 1/11926 0/7858 1/4068 - - - - - - -
?/? c.1858C>T r.(?) p.(Arg620Cys) g.99641315G>A Copied from the Exome Variant Server BCL11B_000019 2/11854 2/7796 0/4058 - - - - - - -
?/? c.1913_1915del r.(?) p.(Asp638del) g.99641258_99641260del Copied from the Exome Variant Server BCL11B_000018 35/5050 26/3548 9/1502 - - - - - - -
?/? c.1956_1957del r.(?) p.(Asn652Lysfs*232) g.99641216_99641217del Copied from the Exome Variant Server BCL11B_000017 11/3030 9/2184 2/846 - - - - - - -
?/? c.2089C>T r.(?) p.(Pro697Ser) g.99641084G>A Copied from the Exome Variant Server BCL11B_000016 1/12978 1/8584 0/4394 - - - - - - -
?/? c.2090C>T r.(?) p.(Pro697Leu) g.99641083G>A Copied from the Exome Variant Server BCL11B_000015 1/12978 1/8584 0/4394 - - - - - - -
?/? c.2099C>T r.(?) p.(Ala700Val) g.99641074G>A Copied from the Exome Variant Server BCL11B_000014 1/12990 1/8590 0/4400 - - - - - - -
?/? c.2118C>T r.(=) p.(=) g.99641055G>A Copied from the Exome Variant Server BCL11B_000013 3/12960 3/8570 0/4390 - - - - - - -
?/? c.2127G>A r.(=) p.(=) g.99641046C>T Copied from the Exome Variant Server BCL11B_000012 1/12912 0/8542 1/4370 - - - - - - -
?/? c.2145C>T r.(=) p.(=) g.99641028G>A Copied from the Exome Variant Server BCL11B_000011 1/12920 1/8562 0/4358 - - - - - - -
?/? c.2196A>T r.(=) p.(=) g.99640977T>A Copied from the Exome Variant Server BCL11B_000010 1/12960 1/8584 0/4376 - - - - - - -
?/? c.2268C>T r.(=) p.(=) g.99640905G>A Copied from the Exome Variant Server BCL11B_000009 513/11674 470/7676 43/3998 - - - - - - -
?/? c.2394C>T r.(=) p.(=) g.99640779G>A Copied from the Exome Variant Server BCL11B_000008 1/12992 1/8590 0/4402 - - - - - - -
?/? c.2460C>T r.(=) p.(=) g.99640713G>A Copied from the Exome Variant Server BCL11B_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2478C>T r.(=) p.(=) g.99640695G>A Copied from the Exome Variant Server BCL11B_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2547C>T r.(=) p.(=) g.99640626G>A Copied from the Exome Variant Server BCL11B_000005 2/13006 0/8600 2/4406 - - - - - - -
?/? c.2571C>T r.(=) p.(=) g.99640602G>A Copied from the Exome Variant Server BCL11B_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2604C>G r.(=) p.(=) g.99640569G>C Copied from the Exome Variant Server BCL11B_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2625G>A r.(=) p.(=) g.99640548C>T Copied from the Exome Variant Server BCL11B_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*6C>T r.(=) p.(=) g.99640482G>A Copied from the Exome Variant Server BCL11B_000001 1/13006 0/8600 1/4406 - - - - - - -
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