Full data view for gene FUBP1

Information The variants shown are described using the NM_003902.3 transcript reference sequence.

123 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-48C>G r.(=) p.(=) g.78444736G>C Copied from the Exome Variant Server FUBP1_000120 1/12846 0/8490 1/4356 - - - - - - -
?/? c.-46G>A r.(=) p.(=) g.78444734C>T Copied from the Exome Variant Server FUBP1_000119 329/12872 261/8502 68/4370 - - - - - - -
?/? c.-36C>T r.(=) p.(=) g.78444724G>A Copied from the Exome Variant Server FUBP1_000118 2/12930 1/8552 1/4378 - - - - - - -
?/? c.-35T>A r.(=) p.(=) g.78444723A>T Copied from the Exome Variant Server FUBP1_000117 1/12932 1/8552 0/4380 - - - - - - -
?/? c.-13T>C r.(=) p.(=) g.78444701A>G Copied from the Exome Variant Server FUBP1_000116 2/12994 0/8590 2/4404 - - - - - - -
?/? c.15A>C r.(=) p.(=) g.78444674T>G Copied from the Exome Variant Server FUBP1_000115 5/13006 0/8600 5/4406 - - - - - - -
?/? c.54T>C r.(=) p.(=) g.78444635A>G Copied from the Exome Variant Server FUBP1_000114 62/13006 58/8600 4/4406 - - - - - - -
?/? c.60C>T r.(=) p.(=) g.78444629G>A Copied from the Exome Variant Server FUBP1_000113 1/13006 1/8600 0/4406 - - - - - - -
?/? c.120+21G>A r.(=) p.(=) g.78444548C>T Copied from the Exome Variant Server FUBP1_000112 5/13006 0/8600 5/4406 - - - - - - -
?/? c.120+45T>C r.(=) p.(=) g.78444524A>G Copied from the Exome Variant Server FUBP1_000111 1/13002 1/8598 0/4404 - - - - - - -
?/? c.120+50G>C r.(=) p.(=) g.78444519C>G Copied from the Exome Variant Server FUBP1_000110 13/13002 0/8600 13/4402 - - - - - - -
?/? c.121-4del r.spl? p.? g.78435703del Copied from the Exome Variant Server FUBP1_000109 3604/12504 2390/8242 1214/4262 - - - - - - -
?/? c.121-4dup r.spl? p.? g.78435703dup Copied from the Exome Variant Server FUBP1_000108 118/12504 72/8242 46/4262 - - - - - - -
?/? c.121-4_121-3del r.spl? p.? g.78435702_78435703del Copied from the Exome Variant Server FUBP1_000107 134/12504 98/8242 36/4262 - - - - - - -
?/? c.173A>G r.(?) p.(Tyr58Cys) g.78435647T>C Copied from the Exome Variant Server FUBP1_000106 1/13006 0/8600 1/4406 - - - - - - -
?/? c.211+9T>C r.(=) p.(=) g.78435600A>G Copied from the Exome Variant Server FUBP1_000105 1/13004 1/8598 0/4406 - - - - - - -
?/? c.211+30T>C r.(=) p.(=) g.78435579A>G Copied from the Exome Variant Server FUBP1_000104 1/13002 0/8596 1/4406 - - - - - - -
?/? c.212-66_212-64del r.(=) p.(=) g.78433951_78433953del Copied from the Exome Variant Server FUBP1_000103 3/12486 2/8232 1/4254 - - - - - - -
?/? c.212-28A>G r.(=) p.(=) g.78433915T>C Copied from the Exome Variant Server FUBP1_000102 1/12996 0/8592 1/4404 - - - - - - -
?/? c.230A>G r.(?) p.(Lys77Arg) g.78433869T>C Copied from the Exome Variant Server FUBP1_000101 1/12994 1/8590 0/4404 - - - - - - -
?/? c.243A>C r.(?) p.(Gln81His) g.78433856T>G Copied from the Exome Variant Server FUBP1_000100 27/12990 0/8586 27/4404 - - - - - - -
?/? c.246T>G r.(?) p.(Asn82Lys) g.78433853A>C Copied from the Exome Variant Server FUBP1_000099 1/12990 1/8586 0/4404 - - - - - - -
?/? c.250+7A>G r.(=) p.(=) g.78433842T>C Copied from the Exome Variant Server FUBP1_000098 1/12990 0/8586 1/4404 - - - - - - -
?/? c.250+48A>G r.(=) p.(=) g.78433801T>C Copied from the Exome Variant Server FUBP1_000095 1368/12988 384/8584 984/4404 - - - - - - -
?/? c.250+50G>C r.(=) p.(=) g.78433799C>G Copied from the Exome Variant Server FUBP1_000093 1/12988 1/8584 0/4404 - - - - - - -
?/? c.251-59_251-52del r.(=) p.(=) g.78433402_78433409del Copied from the Exome Variant Server FUBP1_000091 38/11096 35/7336 3/3760 - - - - - - -
?/? c.273G>A r.(=) p.(=) g.78433328C>T Copied from the Exome Variant Server FUBP1_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.278A>G r.(?) p.(His93Arg) g.78433323T>C Copied from the Exome Variant Server FUBP1_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.290+35A>G r.(=) p.(=) g.78433276T>C Copied from the Exome Variant Server FUBP1_000086 2/13006 0/8600 2/4406 - - - - - - -
?/? c.290+42G>C r.(=) p.(=) g.78433269C>G Copied from the Exome Variant Server FUBP1_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.343+16T>C r.(=) p.(=) g.78432717A>G Copied from the Exome Variant Server FUBP1_000082 58/12978 51/8582 7/4396 - - - - - - -
?/? c.343+25T>C r.(=) p.(=) g.78432708A>G Copied from the Exome Variant Server FUBP1_000080 1/12970 1/8580 0/4390 - - - - - - -
?/? c.344-32A>G r.(=) p.(=) g.78432671T>C Copied from the Exome Variant Server FUBP1_000078 6/12984 6/8590 0/4394 - - - - - - -
?/? c.344-21del r.(=) p.(=) g.78432660del Copied from the Exome Variant Server FUBP1_000123 991/12484 726/8242 265/4242 - - - - - - -
?/? c.344-21dup r.(=) p.(=) g.78432660dup Copied from the Exome Variant Server FUBP1_000075 80/12484 40/8242 40/4242 - - - - - - -
?/? c.344-21_344-20del r.(=) p.(=) g.78432659_78432660del Copied from the Exome Variant Server FUBP1_000122 35/12484 26/8242 9/4242 - - - - - - -
?/? c.344-9del r.(=) p.(=) g.78432648del Copied from the Exome Variant Server FUBP1_000069 193/12488 110/8242 83/4246 - - - - - - -
?/? c.344-9dup r.(=) p.(=) g.78432648dup Copied from the Exome Variant Server FUBP1_000097 96/12488 64/8242 32/4246 - - - - - - -
?/? c.381A>G r.(=) p.(=) g.78432602T>C Copied from the Exome Variant Server FUBP1_000096 1/13004 1/8598 0/4406 - - - - - - -
?/? c.415+17A>G r.(=) p.(=) g.78432551T>C Copied from the Exome Variant Server FUBP1_000094 1/13004 0/8598 1/4406 - - - - - - -
?/? c.415+65C>G r.(=) p.(=) g.78432503G>C Copied from the Exome Variant Server FUBP1_000092 1272/4564 586/3180 686/1384 - - - - - - -
?/? c.416-47A>G r.(=) p.(=) g.78432482T>C Copied from the Exome Variant Server FUBP1_000089 1/13004 0/8598 1/4406 - - - - - - -
?/? c.416-25G>A r.(=) p.(=) g.78432460C>T Copied from the Exome Variant Server FUBP1_000088 1/13004 1/8600 0/4404 - - - - - - -
?/? c.459A>C r.(=) p.(=) g.78432392T>G Copied from the Exome Variant Server FUBP1_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.471C>T r.(=) p.(=) g.78432380G>A Copied from the Exome Variant Server FUBP1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.473+27A>G r.(=) p.(=) g.78432351T>C Copied from the Exome Variant Server FUBP1_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.473+35A>G r.(=) p.(=) g.78432343T>C Copied from the Exome Variant Server FUBP1_000079 1/13004 0/8598 1/4406 - - - - - - -
?/? c.473+42G>A r.(=) p.(=) g.78432336C>T Copied from the Exome Variant Server FUBP1_000077 1/13004 1/8598 0/4406 - - - - - - -
?/? c.473+48C>A r.(=) p.(=) g.78432330G>T Copied from the Exome Variant Server FUBP1_000076 1/13006 0/8600 1/4406 - - - - - - -
?/? c.474-23T>C r.(=) p.(=) g.78430938A>G Copied from the Exome Variant Server FUBP1_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.474-3C>T r.spl? p.? g.78430918G>A Copied from the Exome Variant Server FUBP1_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.494A>G r.(?) p.(Asp165Gly) g.78430895T>C Copied from the Exome Variant Server FUBP1_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.528C>T r.(=) p.(=) g.78430861G>A Copied from the Exome Variant Server FUBP1_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.636+13T>C r.(=) p.(=) g.78430740A>G Copied from the Exome Variant Server FUBP1_000065 2/13006 2/8600 0/4406 - - - - - - -
?/? c.637-13A>G r.(=) p.(=) g.78430666T>C Copied from the Exome Variant Server FUBP1_000121 3/13002 0/8598 3/4404 - - - - - - -
?/? c.672C>T r.(=) p.(=) g.78430618G>A Copied from the Exome Variant Server FUBP1_000063 2/13006 2/8600 0/4406 - - - - - - -
?/? c.675G>A r.(=) p.(=) g.78430615C>T Copied from the Exome Variant Server FUBP1_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.743A>G r.(?) p.(Lys248Arg) g.78430425T>C Copied from the Exome Variant Server FUBP1_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.747A>G r.(=) p.(=) g.78430421T>C Copied from the Exome Variant Server FUBP1_000057 18/13006 15/8600 3/4406 - - - - - - -
?/? c.766C>T r.(?) p.(Arg256Cys) g.78430402G>A Copied from the Exome Variant Server FUBP1_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.777C>T r.(=) p.(=) g.78430391G>A Copied from the Exome Variant Server FUBP1_000053 23/13006 23/8600 0/4406 - - - - - - -
?/? c.778G>A r.(?) p.(Gly260Ser) g.78430390C>T Copied from the Exome Variant Server FUBP1_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.894C>A r.(=) p.(=) g.78429985G>T Copied from the Exome Variant Server FUBP1_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.940+24A>G r.(=) p.(=) g.78429915T>C Copied from the Exome Variant Server FUBP1_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.941-38A>G r.(=) p.(=) g.78429885T>C Copied from the Exome Variant Server FUBP1_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.941-23_941-20del r.(=) p.(=) g.78429867_78429870del Copied from the Exome Variant Server FUBP1_000066 37/12520 19/8254 18/4266 - - - - - - -
?/? c.957C>T r.(=) p.(=) g.78429831G>A Copied from the Exome Variant Server FUBP1_000064 2/13006 2/8600 0/4406 - - - - - - -
?/? c.977C>T r.(?) p.(Thr326Ile) g.78429811G>A Copied from the Exome Variant Server FUBP1_000062 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1041+19A>G r.(=) p.(=) g.78429728T>C Copied from the Exome Variant Server FUBP1_000060 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1041+24C>T r.(=) p.(=) g.78429723G>A Copied from the Exome Variant Server FUBP1_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1041+35T>C r.(=) p.(=) g.78429712A>G Copied from the Exome Variant Server FUBP1_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1041+45A>C r.(=) p.(=) g.78429702T>G Copied from the Exome Variant Server FUBP1_000054 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1042-19T>C r.(=) p.(=) g.78429419A>G Copied from the Exome Variant Server FUBP1_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1042-8C>G r.(=) p.(=) g.78429408G>C Copied from the Exome Variant Server FUBP1_000050 950/13006 723/8600 227/4406 - - - - - - -
?/? c.1127T>C r.(?) p.(Leu376Pro) g.78429315A>G Copied from the Exome Variant Server FUBP1_000049 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1183+27T>G r.(=) p.(=) g.78429232A>C Copied from the Exome Variant Server FUBP1_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1183+44T>C r.(=) p.(=) g.78429215A>G Copied from the Exome Variant Server FUBP1_000047 332/13004 261/8598 71/4406 - - - - - - -
?/? c.1184-50C>T r.(=) p.(=) g.78428665G>A Copied from the Exome Variant Server FUBP1_000046 2/12998 1/8596 1/4402 - - - - - - -
?/? c.1184-45T>G r.(=) p.(=) g.78428660A>C Copied from the Exome Variant Server FUBP1_000045 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1203C>T r.(=) p.(=) g.78428596G>A Copied from the Exome Variant Server FUBP1_000044 418/13006 1/8600 417/4406 - - - - - - -
?/? c.1204A>G r.(?) p.(Ile402Val) g.78428595T>C Copied from the Exome Variant Server FUBP1_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1213C>G r.(?) p.(Gln405Glu) g.78428586G>C Copied from the Exome Variant Server FUBP1_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1222G>A r.(?) p.(Ala408Thr) g.78428577C>T Copied from the Exome Variant Server FUBP1_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1260A>C r.(=) p.(=) g.78428539T>G Copied from the Exome Variant Server FUBP1_000040 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1313A>G r.(?) p.(Tyr438Cys) g.78428486T>C Copied from the Exome Variant Server FUBP1_000039 2/13004 0/8600 2/4404 - - - - - - -
?/? c.1328T>C r.(?) p.(Ile443Thr) g.78428471A>G Copied from the Exome Variant Server FUBP1_000038 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1344+3G>A r.spl? p.? g.78428452C>T Copied from the Exome Variant Server FUBP1_000037 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1344+21del r.(=) p.(=) g.78428434del Copied from the Exome Variant Server FUBP1_000036 8/12514 4/8250 4/4264 - - - - - - -
?/? c.1344+38C>T r.(=) p.(=) g.78428417G>A Copied from the Exome Variant Server FUBP1_000035 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1345-51T>C r.(=) p.(=) g.78426231A>G Copied from the Exome Variant Server FUBP1_000034 942/12544 402/8326 540/4218 - - - - - - -
?/? c.1345-43A>G r.(=) p.(=) g.78426223T>C Copied from the Exome Variant Server FUBP1_000033 1/12688 1/8418 0/4270 - - - - - - -
?/? c.1345-5del r.spl? p.? g.78426185del Copied from the Exome Variant Server FUBP1_000032 104/12316 66/8118 38/4198 - - - - - - -
?/? c.1345-5dup r.spl? p.? g.78426185dup Copied from the Exome Variant Server FUBP1_000031 132/12316 84/8118 48/4198 - - - - - - -
?/? c.1454A>G r.(?) p.(Asn485Ser) g.78426071T>C Copied from the Exome Variant Server FUBP1_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1497-21T>C r.(=) p.(=) g.78425969A>G Copied from the Exome Variant Server FUBP1_000029 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1521C>G r.(=) p.(=) g.78425924G>C Copied from the Exome Variant Server FUBP1_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1539A>G r.(=) p.(=) g.78425906T>C Copied from the Exome Variant Server FUBP1_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1554G>A r.(=) p.(=) g.78425891C>T Copied from the Exome Variant Server FUBP1_000025 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1576+19_1576+20del r.(=) p.(=) g.78425849_78425850del Copied from the Exome Variant Server FUBP1_000023 10/12520 2/8254 8/4266 - - - - - - -
?/? c.1577-54_1577-53insTGTG r.(=) p.(=) g.78422438_78422439insCACA Copied from the Exome Variant Server FUBP1_000021 252/12520 28/8254 224/4266 - - - - - - -
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