Unique variants in gene STUB1

Information The variants shown are described using the NM_005861.2 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-11C>T r.(=) p.(=) g.730515C>T Copied from the Exome Variant Server STUB1_000003 1/11300 1/7508 0/3792
1 c.47G>A r.(?) p.(Gly16Asp) g.730572G>A Copied from the Exome Variant Server STUB1_000001 1/12570 0/8364 1/4206
1 c.60C>G r.(=) p.(=) g.730585C>G Copied from the Exome Variant Server STUB1_000002 2/12644 0/8426 2/4218
1 c.106C>T r.(=) p.(=) g.730631C>T Copied from the Exome Variant Server STUB1_000004 1/12740 1/8462 0/4278
1 c.143G>A r.(?) p.(Cys48Tyr) g.730668G>A Copied from the Exome Variant Server STUB1_000005 1/12488 1/8298 0/4190
1 c.175G>A r.(?) p.(Val59Met) g.731167G>A Copied from the Exome Variant Server STUB1_000006 1/12862 1/8534 0/4328
1 c.254G>A r.(?) p.(Arg85His) g.731246G>A Copied from the Exome Variant Server STUB1_000007 1/12980 1/8596 0/4384
1 c.326G>A r.(?) p.(Ser109Asn) g.731318G>A Copied from the Exome Variant Server STUB1_000008 41/12988 37/8594 4/4394
1 c.358+14C>T r.(=) p.(=) g.731364C>T Copied from the Exome Variant Server STUB1_000009 1/12986 1/8592 0/4394
1 c.358+37G>A r.(=) p.(=) g.731387G>A Copied from the Exome Variant Server STUB1_000010 1/12986 1/8594 0/4392
1 c.358+39C>T r.(=) p.(=) g.731389C>T Copied from the Exome Variant Server STUB1_000011 1/12986 1/8594 0/4392
1 c.359-20G>A r.(=) p.(=) g.731418G>A Copied from the Exome Variant Server STUB1_000012 1/12988 1/8594 0/4394
1 c.393C>T r.(=) p.(=) g.731472C>T Copied from the Exome Variant Server STUB1_000013 2/12986 2/8594 0/4392
1 c.402C>T r.(=) p.(=) g.731481C>T Copied from the Exome Variant Server STUB1_000014 2/12992 2/8600 0/4392
1 c.433A>C r.(?) p.(Lys145Gln) g.731512A>C Copied from the Exome Variant Server STUB1_000015 7/12986 5/8594 2/4392
1 c.438C>T r.(=) p.(=) g.731517C>T Copied from the Exome Variant Server STUB1_000016 8/12982 0/8590 8/4392
1 c.510C>T r.(=) p.(=) g.731589C>T Copied from the Exome Variant Server STUB1_000017 1/12976 1/8590 0/4386
1 c.521A>G r.(?) p.(Glu174Gly) g.731600A>G Copied from the Exome Variant Server STUB1_000018 1/12968 1/8582 0/4386
1 c.524+8C>T r.(=) p.(=) g.731611C>T Copied from the Exome Variant Server STUB1_000019 1/12970 0/8580 1/4390
1 c.524+19G>A r.(=) p.(=) g.731622G>A Copied from the Exome Variant Server STUB1_000020 1/12966 0/8580 1/4386
1 c.524+21C>T r.(=) p.(=) g.731624C>T Copied from the Exome Variant Server STUB1_000021 1/12964 1/8582 0/4382
1 c.525-38C>T r.(=) p.(=) g.731755C>T Copied from the Exome Variant Server JMJD8_000001 1/12986 0/8590 1/4396
1 c.525-22C>T r.(=) p.(=) g.731771C>T Copied from the Exome Variant Server JMJD8_000002 709/12992 256/8592 453/4400
1 c.525-6C>A r.(=) p.(=) g.731787C>A Copied from the Exome Variant Server JMJD8_000003 1/12988 0/8594 1/4394
1 c.525-4C>G r.spl? p.? g.731789C>G Copied from the Exome Variant Server JMJD8_000004 1/12988 1/8594 0/4394
1 c.543G>T r.(?) p.(Gln181His) g.731811G>T Copied from the Exome Variant Server JMJD8_000005 6/13000 0/8600 6/4400
1 c.544C>T r.(?) p.(Arg182*) g.731812C>T Copied from the Exome Variant Server JMJD8_000006 1/13000 1/8600 0/4400
1 c.545G>A r.(?) p.(Arg182Gln) g.731813G>A Copied from the Exome Variant Server JMJD8_000007 1/12998 1/8600 0/4398
1 c.577G>A r.(?) p.(Val193Ile) g.731845G>A Copied from the Exome Variant Server JMJD8_000008 2/12998 2/8600 0/4398
1 c.581G>A r.(?) p.(Arg194Gln) g.731849G>A Copied from the Exome Variant Server JMJD8_000009 2/12996 2/8600 0/4396
1 c.612+9_612+10insC r.(=) p.(=) g.731889_731890insC Copied from the Exome Variant Server JMJD8_000010 5/12508 5/8250 0/4258
1 c.612+10C>T r.(=) p.(=) g.731890C>T Copied from the Exome Variant Server JMJD8_000011 1/12998 0/8596 1/4402
1 c.612+22A>G r.(=) p.(=) g.731902A>G Copied from the Exome Variant Server JMJD8_000012 1/13000 1/8598 0/4402
1 c.612+30C>G r.(=) p.(=) g.731910C>G Copied from the Exome Variant Server JMJD8_000013 1/13000 0/8598 1/4402
1 c.612+31_612+34del r.(=) p.(=) g.731911_731914del Copied from the Exome Variant Server JMJD8_000014 3/12514 1/8250 2/4264
1 c.612+44G>A r.(=) p.(=) g.731924G>A Copied from the Exome Variant Server JMJD8_000015 1/13000 1/8598 0/4402
1 c.612+48C>T r.(=) p.(=) g.731928C>T Copied from the Exome Variant Server JMJD8_000016 6/12998 4/8598 2/4400
1 c.613-67G>A r.(=) p.(=) g.731953G>A Copied from the Exome Variant Server JMJD8_000017 25/4566 0/3182 25/1384
1 c.613-13C>T r.(=) p.(=) g.732007C>T Copied from the Exome Variant Server JMJD8_000018 1/13002 1/8600 0/4402
1 c.613-7del r.(=) p.(=) g.732013del Copied from the Exome Variant Server JMJD8_000019 4/12518 2/8254 2/4264
1 c.614A>T r.(?) p.(Asp205Val) g.732021A>T Copied from the Exome Variant Server JMJD8_000020 1/13002 0/8600 1/4402
1 c.642T>C r.(=) p.(=) g.732049T>C Copied from the Exome Variant Server JMJD8_000021 154/13002 0/8600 154/4402
1 c.658_660del r.(?) p.(Glu220del) g.732065_732067del Copied from the Exome Variant Server JMJD8_000022 1/12518 1/8254 0/4264
1 c.669+13C>T r.(=) p.(=) g.732089C>T Copied from the Exome Variant Server JMJD8_000023 21/13002 0/8600 21/4402
1 c.669+14G>C r.(=) p.(=) g.732090G>C Copied from the Exome Variant Server JMJD8_000024 87/13002 0/8600 87/4402
1 c.669+23C>T r.(=) p.(=) g.732099C>T Copied from the Exome Variant Server JMJD8_000025 1/13002 0/8600 1/4402
1 c.669+44_670-44insC r.(=) p.(=) g.732120_732121insC Copied from the Exome Variant Server JMJD8_000027 2/12518 0/8254 2/4264
1 c.670-21del r.(=) p.(=) g.732144del Copied from the Exome Variant Server JMJD8_000029 2/12514 2/8250 0/4264
1 c.670-19G>A r.(=) p.(=) g.732146G>A Copied from the Exome Variant Server JMJD8_000031 5/12998 2/8596 3/4402
1 c.676G>A r.(?) p.(Asp226Asn) g.732171G>A Copied from the Exome Variant Server JMJD8_000033 2/12998 2/8596 0/4402
1 c.702G>A r.(=) p.(=) g.732197G>A Copied from the Exome Variant Server JMJD8_000035 1/12996 0/8594 1/4402
1 c.714G>A r.(=) p.(=) g.732209G>A Copied from the Exome Variant Server JMJD8_000026 2/12996 0/8594 2/4402
1 c.723G>A r.(=) p.(=) g.732218G>A Copied from the Exome Variant Server JMJD8_000028 1/12996 1/8596 0/4400
1 c.747C>T r.(=) p.(=) g.732242C>T Copied from the Exome Variant Server JMJD8_000030 1/12996 0/8598 1/4398
1 c.756C>T r.(=) p.(=) g.732251C>T Copied from the Exome Variant Server JMJD8_000032 1/12998 1/8600 0/4398
1 c.786+7del r.(=) p.(=) g.732288del Copied from the Exome Variant Server JMJD8_000034 6138/12514 3349/8252 2789/4262
1 c.786+11C>T r.(=) p.(=) g.732292C>T Copied from the Exome Variant Server JMJD8_000036 2/12998 0/8598 2/4400
1 c.786+31G>C r.(=) p.(=) g.732312G>C Copied from the Exome Variant Server JMJD8_000037 1/12996 0/8598 1/4398
1 c.787-38G>A r.(=) p.(=) g.732326G>A Copied from the Exome Variant Server JMJD8_000038 3/12998 0/8600 3/4398
1 c.787-16_787-14del r.(=) p.(=) g.732348_732350del Copied from the Exome Variant Server JMJD8_000039 12/12518 9/8254 3/4264
1 c.816G>C r.(=) p.(=) g.732393G>C Copied from the Exome Variant Server JMJD8_000040 1/13002 1/8600 0/4402
1 c.822C>T r.(=) p.(=) g.732399C>T Copied from the Exome Variant Server JMJD8_000041 1/13002 0/8600 1/4402
1 c.861G>A r.(=) p.(=) g.732438G>A Copied from the Exome Variant Server JMJD8_000042 1/13002 1/8600 0/4402
1 c.873C>T r.(=) p.(=) g.732450C>T Copied from the Exome Variant Server JMJD8_000043 1/13002 0/8600 1/4402
1 c.894C>T r.(=) p.(=) g.732471C>T Copied from the Exome Variant Server JMJD8_000044 1/13002 1/8600 0/4402
1 c.*2G>A r.(=) p.(=) g.732491G>A Copied from the Exome Variant Server JMJD8_000045 1/13002 0/8600 1/4402
1 c.*5C>T r.(=) p.(=) g.732494C>T Copied from the Exome Variant Server JMJD8_000046 31/13002 28/8600 3/4402
1 c.*13T>A r.(=) p.(=) g.732502T>A Copied from the Exome Variant Server JMJD8_000047 1/12998 1/8600 0/4398
1 c.*18G>C r.(=) p.(=) g.732507G>C Copied from the Exome Variant Server JMJD8_000048 1/12998 1/8600 0/4398
1 c.*46A>G r.(=) p.(=) g.732535A>G Copied from the Exome Variant Server JMJD8_000049 2/12970 1/8582 1/4388
1 c.*268G>A r.(=) p.(=) g.732757G>A Copied from the Exome Variant Server JMJD8_000050 1/12852 1/8516 0/4336
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