All transcript variants in gene BUB1B

Information The variants shown are described using the NM_001211.5 transcript reference sequence.

185 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-42A>G r.(=) p.(=) g.40453380A>G Copied from the Exome Variant Server BUB1B_000002 123/12994 111/8594 12/4400
?/? c.9G>T r.(=) p.(=) g.40453430G>T Copied from the Exome Variant Server BUB1B_000004 779/13006 18/8600 761/4406
?/? c.10G>A r.(?) p.(Val4Met) g.40453431G>A Copied from the Exome Variant Server BUB1B_000006 21/13006 0/8600 21/4406
?/? c.15G>A r.(=) p.(=) g.40453436G>A Copied from the Exome Variant Server BUB1B_000008 1/13002 1/8598 0/4404
?/? c.18G>A r.(=) p.(=) g.40453439G>A Copied from the Exome Variant Server BUB1B_000010 1/13000 0/8596 1/4404
?/? c.35+41G>A r.(=) p.(=) g.40453497G>A Copied from the Exome Variant Server BUB1B_000011 5185/12992 4229/8598 956/4394
?/? c.36-44A>G r.(=) p.(=) g.40457210A>G Copied from the Exome Variant Server BUB1B_000001 1/13006 1/8600 0/4406
?/? c.36-43G>A r.(=) p.(=) g.40457211G>A Copied from the Exome Variant Server BUB1B_000003 1/13006 1/8600 0/4406
?/? c.36-31A>G r.(=) p.(=) g.40457223A>G Copied from the Exome Variant Server BUB1B_000005 1/13006 0/8600 1/4406
?/? c.36-23T>G r.(=) p.(=) g.40457231T>G Copied from the Exome Variant Server BUB1B_000007 1/13006 1/8600 0/4406
?/? c.36-16_36-15insT r.(=) p.(=) g.40457238_40457239insT Copied from the Exome Variant Server BUB1B_000009 834/12518 18/8254 816/4264
?/? c.36-14_36-13insG r.(=) p.(=) g.40457240_40457241insG Copied from the Exome Variant Server BUB1B_000012 490/12518 9/8254 481/4264
?/? c.119C>T r.(?) p.(Thr40Met) g.40457337C>T Copied from the Exome Variant Server BUB1B_000013 313/13006 0/8600 313/4406
?/? c.125A>G r.(?) p.(Gln42Arg) g.40457343A>G Copied from the Exome Variant Server BUB1B_000014 1/13006 0/8600 1/4406
?/? c.132A>G r.(=) p.(=) g.40457350A>G Copied from the Exome Variant Server BUB1B_000015 1/13006 1/8600 0/4406
?/? c.151T>C r.(?) p.(Cys51Arg) g.40457369T>C Copied from the Exome Variant Server BUB1B_000016 1/13006 1/8600 0/4406
?/? c.179+5G>A r.spl? p.? g.40457402G>A Copied from the Exome Variant Server BUB1B_000017 1/13006 0/8600 1/4406
?/? c.179+20C>T r.(=) p.(=) g.40457417C>T Copied from the Exome Variant Server BUB1B_000018 1/13006 0/8600 1/4406
?/? c.179+24A>G r.(=) p.(=) g.40457421A>G Copied from the Exome Variant Server BUB1B_000019 1/13006 1/8600 0/4406
?/? c.179+31G>A r.(=) p.(=) g.40457428G>A Copied from the Exome Variant Server BUB1B_000020 1/13006 1/8600 0/4406
?/? c.179+34A>C r.(=) p.(=) g.40457431A>C Copied from the Exome Variant Server BUB1B_000021 1576/13006 1264/8600 312/4406
?/? c.180-35A>G r.(=) p.(=) g.40462228A>G Copied from the Exome Variant Server BUB1B_000022 717/13006 6/8600 711/4406
?/? c.180-11T>G r.(=) p.(=) g.40462252T>G Copied from the Exome Variant Server BUB1B_000023 1/13006 0/8600 1/4406
?/? c.180-3C>T r.spl? p.? g.40462260C>T Copied from the Exome Variant Server BUB1B_000024 7/13006 7/8600 0/4406
?/? c.239+27A>T r.(=) p.(=) g.40462349A>T Copied from the Exome Variant Server BUB1B_000025 2/13006 2/8600 0/4406
?/? c.239+46A>T r.(=) p.(=) g.40462368A>T Copied from the Exome Variant Server BUB1B_000026 1/13006 1/8600 0/4406
?/? c.240-9C>A r.(=) p.(=) g.40462729C>A Copied from the Exome Variant Server BUB1B_000027 1/13006 1/8600 0/4406
?/? c.247A>G r.(?) p.(Ser83Gly) g.40462745A>G Copied from the Exome Variant Server BUB1B_000028 1/13006 1/8600 0/4406
?/? c.255A>G r.(=) p.(=) g.40462753A>G Copied from the Exome Variant Server BUB1B_000029 1/13006 1/8600 0/4406
?/? c.282G>A r.(=) p.(=) g.40462780G>A Copied from the Exome Variant Server BUB1B_000030 1869/13006 1266/8600 603/4406
?/? c.322G>A r.(?) p.(Ala108Thr) g.40462820G>A Copied from the Exome Variant Server BUB1B_000031 1/13006 0/8600 1/4406
?/? c.348T>C r.(=) p.(=) g.40462846T>C Copied from the Exome Variant Server BUB1B_000032 104/13006 97/8600 7/4406
?/? c.384+33A>C r.(=) p.(=) g.40462915A>C Copied from the Exome Variant Server BUB1B_000033 7/13002 6/8598 1/4404
?/? c.385-40G>A r.(=) p.(=) g.40468638G>A Copied from the Exome Variant Server BUB1B_000034 1/13006 1/8600 0/4406
?/? c.387G>T r.(=) p.(=) g.40468680G>T Copied from the Exome Variant Server BUB1B_000035 1/13006 0/8600 1/4406
?/? c.542A>G r.(?) p.(Gln181Arg) g.40468835A>G Copied from the Exome Variant Server BUB1B_000036 2/13006 2/8600 0/4406
?/? c.550G>C r.(?) p.(Glu184Gln) g.40468843G>C Copied from the Exome Variant Server BUB1B_000037 1/13006 1/8600 0/4406
?/? c.573C>A r.(=) p.(=) g.40468866C>A Copied from the Exome Variant Server BUB1B_000038 13/13006 11/8600 2/4406
?/? c.582-15A>G r.(=) p.(=) g.40475900A>G Copied from the Exome Variant Server BUB1B_000039 1/13006 0/8600 1/4406
?/? c.629_631del r.(?) p.(Glu215del) g.40475962_40475964del Copied from the Exome Variant Server BUB1B_000040 22/12518 16/8254 6/4264
?/? c.663_665del r.(?) p.(Pro222del) g.40475996_40475998del Copied from the Exome Variant Server BUB1B_000041 131/12518 98/8254 33/4264
?/? c.678A>G r.(=) p.(=) g.40476011A>G Copied from the Exome Variant Server BUB1B_000042 3/13006 0/8600 3/4406
?/? c.751+9G>A r.(=) p.(=) g.40476093G>A Copied from the Exome Variant Server BUB1B_000043 1/13006 1/8600 0/4406
?/? c.751+15C>T r.(=) p.(=) g.40476099C>T Copied from the Exome Variant Server BUB1B_000044 5/13006 1/8600 4/4406
?/? c.751+24G>A r.(=) p.(=) g.40476108G>A Copied from the Exome Variant Server BUB1B_000045 2/13006 2/8600 0/4406
?/? c.751+31_751+32del r.(=) p.(=) g.40476115_40476116del Copied from the Exome Variant Server BUB1B_000046 1/12518 0/8254 1/4264
?/? c.751+47_751+48insA r.(=) p.(=) g.40476131_40476132insA Copied from the Exome Variant Server BUB1B_000047 837/12518 18/8254 819/4264
?/? c.752-43T>C r.(=) p.(=) g.40477323T>C Copied from the Exome Variant Server BUB1B_000048 4/12914 4/8580 0/4334
?/? c.752-39G>T r.(=) p.(=) g.40477327G>T Copied from the Exome Variant Server BUB1B_000049 2/12944 2/8584 0/4360
?/? c.752-30T>C r.(=) p.(=) g.40477336T>C Copied from the Exome Variant Server BUB1B_000050 1/12958 0/8588 1/4370
?/? c.752-25G>A r.(=) p.(=) g.40477341G>A Copied from the Exome Variant Server BUB1B_000051 1/12986 0/8596 1/4390
?/? c.772C>T r.(?) p.(Leu258Phe) g.40477386C>T Copied from the Exome Variant Server BUB1B_000052 10/13006 0/8600 10/4406
?/? c.783A>G r.(=) p.(=) g.40477397A>G Copied from the Exome Variant Server BUB1B_000053 1/13006 0/8600 1/4406
?/? c.805A>G r.(?) p.(Asn269Asp) g.40477419A>G Copied from the Exome Variant Server BUB1B_000055 5/13006 2/8600 3/4406
?/? c.872C>A r.(?) p.(Thr291Lys) g.40477486C>A Copied from the Exome Variant Server BUB1B_000057 1/13006 1/8600 0/4406
?/? c.897C>G r.(=) p.(=) g.40477511C>G Copied from the Exome Variant Server BUB1B_000059 1/13006 1/8600 0/4406
?/? c.966+14G>C r.(=) p.(=) g.40477594G>C Copied from the Exome Variant Server BUB1B_000054 5/13006 5/8600 0/4406
?/? c.966+20G>T r.(=) p.(=) g.40477600G>T Copied from the Exome Variant Server BUB1B_000056 1/13006 0/8600 1/4406
?/? c.967-17_967-15del r.(=) p.(=) g.40477735_40477737del Copied from the Exome Variant Server BUB1B_000058 21/12518 14/8254 7/4264
?/? c.1001C>T r.(?) p.(Pro334Leu) g.40477786C>T Copied from the Exome Variant Server BUB1B_000060 6/13006 6/8600 0/4406
?/? c.1003G>C r.(?) p.(Ala335Pro) g.40477788G>C Copied from the Exome Variant Server BUB1B_000061 8/13006 0/8600 8/4406
?/? c.1029T>C r.(=) p.(=) g.40477814T>C Copied from the Exome Variant Server BUB1B_000062 1/13006 0/8600 1/4406
?/? c.1046G>A N/A N/A g.40477831G>A Copied from the Exome Variant Server BUB1B_000063 9572/13006 5985/8600 3587/4406
?/? c.1058+9G>A r.(=) p.(=) g.40477852G>A Copied from the Exome Variant Server BUB1B_000064 1/13006 0/8600 1/4406
?/? c.1058+11T>G r.(=) p.(=) g.40477854T>G Copied from the Exome Variant Server BUB1B_000065 4/13006 0/8600 4/4406
?/? c.1058+25G>A r.(=) p.(=) g.40477868G>A Copied from the Exome Variant Server BUB1B_000066 19/13006 0/8600 19/4406
?/? c.1059-49_1059-48insT r.(=) p.(=) g.40488697_40488698insT Copied from the Exome Variant Server BUB1B_000067 13/12058 9/8066 4/3992
?/? c.1059-8del r.(=) p.(=) g.40488738del Copied from the Exome Variant Server BUB1B_000068 12/12502 0/8242 12/4260
?/? c.1066T>A r.(?) p.(Cys356Ser) g.40488753T>A Copied from the Exome Variant Server BUB1B_000069 1/13002 1/8596 0/4406
?/? c.1128A>T r.(=) p.(=) g.40488815A>T Copied from the Exome Variant Server BUB1B_000070 3/13006 0/8600 3/4406
?/? c.1150A>G r.(?) p.(Ser384Gly) g.40488837A>G Copied from the Exome Variant Server BUB1B_000071 2/13006 2/8600 0/4406
?/? c.1164G>A r.(=) p.(=) g.40488851G>A Copied from the Exome Variant Server BUB1B_000072 2945/13006 2630/8600 315/4406
?/? c.1170G>C r.(?) p.(Glu390Asp) g.40488857G>C Copied from the Exome Variant Server BUB1B_000073 515/13006 6/8600 509/4406
?/? c.1227A>C r.(?) p.(Glu409Asp) g.40488914A>C Copied from the Exome Variant Server BUB1B_000074 5/13006 5/8600 0/4406
?/? c.1230C>T r.(=) p.(=) g.40488917C>T Copied from the Exome Variant Server BUB1B_000075 9/13006 0/8600 9/4406
?/? c.1261C>T r.(?) p.(Arg421Trp) g.40488948C>T Copied from the Exome Variant Server BUB1B_000076 2/13006 2/8600 0/4406
?/? c.1262G>A r.(?) p.(Arg421Gln) g.40488949G>A Copied from the Exome Variant Server BUB1B_000077 2/13006 0/8600 2/4406
?/? c.1289-43T>C r.(=) p.(=) g.40491773T>C Copied from the Exome Variant Server BUB1B_000078 212/13004 2/8600 210/4404
?/? c.1289-8G>A r.(=) p.(=) g.40491808G>A Copied from the Exome Variant Server BUB1B_000079 1/13006 1/8600 0/4406
?/? c.1361A>G r.(?) p.(Lys454Arg) g.40491888A>G Copied from the Exome Variant Server BUB1B_000080 2/13006 2/8600 0/4406
?/? c.1371A>G r.(=) p.(=) g.40491898A>G Copied from the Exome Variant Server BUB1B_000081 8/13006 0/8600 8/4406
?/? c.1401+17C>G r.(=) p.(=) g.40491945C>G Copied from the Exome Variant Server BUB1B_000082 1/13004 1/8600 0/4404
?/? c.1401+24A>G r.(=) p.(=) g.40491952A>G Copied from the Exome Variant Server BUB1B_000083 5414/13002 4668/8600 746/4402
?/? c.1402-40G>A r.(=) p.(=) g.40492405G>A Copied from the Exome Variant Server BUB1B_000084 231/13006 1/8600 230/4406
?/? c.1402-33G>A r.(=) p.(=) g.40492412G>A Copied from the Exome Variant Server BUB1B_000085 1/13006 0/8600 1/4406
?/? c.1402-30A>T r.(=) p.(=) g.40492415A>T Copied from the Exome Variant Server BUB1B_000086 1/13006 1/8600 0/4406
?/? c.1402-27T>G r.(=) p.(=) g.40492418T>G Copied from the Exome Variant Server BUB1B_000087 1/13006 1/8600 0/4406
?/? c.1412C>T r.(?) p.(Thr471Met) g.40492455C>T Copied from the Exome Variant Server BUB1B_000088 3/13006 0/8600 3/4406
?/? c.1413G>T r.(=) p.(=) g.40492456G>T Copied from the Exome Variant Server BUB1B_000089 1/13006 1/8600 0/4406
?/? c.1464A>T r.(?) p.(Lys488Asn) g.40492507A>T Copied from the Exome Variant Server BUB1B_000090 1/13006 1/8600 0/4406
?/? c.1478C>T r.(?) p.(Thr493Ile) g.40492521C>T Copied from the Exome Variant Server BUB1B_000091 3/13006 3/8600 0/4406
?/? c.1482A>G r.(=) p.(=) g.40492525A>G Copied from the Exome Variant Server BUB1B_000092 1/13006 0/8600 1/4406
?/? c.1517+10C>T r.(=) p.(=) g.40492570C>T Copied from the Exome Variant Server BUB1B_000093 1/13006 1/8600 0/4406
?/? c.1517+31A>C r.(=) p.(=) g.40492591A>C Copied from the Exome Variant Server BUB1B_000094 1/13006 1/8600 0/4406
?/? c.1518-24G>T r.(=) p.(=) g.40493108G>T Copied from the Exome Variant Server BUB1B_000095 1/13006 0/8600 1/4406
?/? c.1539C>T r.(=) p.(=) g.40493153C>T Copied from the Exome Variant Server BUB1B_000096 3/13006 0/8600 3/4406
?/? c.1568-16G>A r.(=) p.(=) g.40494590G>A Copied from the Exome Variant Server BUB1B_000097 2/13004 2/8598 0/4406
?/? c.1587C>T r.(=) p.(=) g.40494625C>T Copied from the Exome Variant Server BUB1B_000098 1/13004 1/8598 0/4406
?/? c.1623T>C r.(=) p.(=) g.40494661T>C Copied from the Exome Variant Server BUB1B_000099 326/13002 0/8596 326/4406
?/? c.1628+5G>A r.spl? p.? g.40494671G>A Copied from the Exome Variant Server BUB1B_000100 1/13006 1/8600 0/4406
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