All transcript variants in gene FANCE

Information The variants shown are described using the NM_021922.2 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.249-35A>G r.(=) p.(=) g.35423489A>G Copied from the Exome Variant Server FANCE_000001 9548/13006 5773/8600 3775/4406
?/? c.253C>T r.(?) p.(Pro85Ser) g.35423528C>T Copied from the Exome Variant Server FANCE_000002 4/13006 3/8600 1/4406
?/? c.275G>A r.(?) p.(Arg92Gln) g.35423550G>A Copied from the Exome Variant Server FANCE_000003 1/13006 0/8600 1/4406
?/? c.284A>G r.(?) p.(Gln95Arg) g.35423559A>G Copied from the Exome Variant Server FANCE_000004 16/13006 0/8600 16/4406
?/? c.313G>A r.(?) p.(Val105Ile) g.35423588G>A Copied from the Exome Variant Server FANCE_000005 1/13006 1/8600 0/4406
?/? c.329C>T r.(?) p.(Pro110Leu) g.35423604C>T Copied from the Exome Variant Server FANCE_000006 1/13006 1/8600 0/4406
?/? c.387A>C r.(=) p.(=) g.35423662A>C Copied from the Exome Variant Server FANCE_000007 9568/13006 5777/8600 3791/4406
?/? c.398T>C r.(?) p.(Leu133Pro) g.35423673T>C Copied from the Exome Variant Server FANCE_000008 1/13006 1/8600 0/4406
?/? c.422G>A r.(?) p.(Arg141Gln) g.35423697G>A Copied from the Exome Variant Server FANCE_000009 2/13006 0/8600 2/4406
?/? c.426G>A r.(=) p.(=) g.35423701G>A Copied from the Exome Variant Server FANCE_000010 1/13006 1/8600 0/4406
?/? c.457G>A r.(?) p.(Ala153Thr) g.35423732G>A Copied from the Exome Variant Server FANCE_000011 1/13006 1/8600 0/4406
?/? c.499C>T r.(=) p.(=) g.35423774C>T Copied from the Exome Variant Server FANCE_000012 1/12966 0/8572 1/4394
?/? c.502T>C r.(?) p.(Cys168Arg) g.35423777T>C Copied from the Exome Variant Server FANCE_000013 1/12948 1/8560 0/4388
?/? c.522G>A r.(=) p.(=) g.35423797G>A Copied from the Exome Variant Server FANCE_000015 10/12972 0/8574 10/4398
?/? c.551C>T r.(?) p.(Pro184Leu) g.35423826C>T Copied from the Exome Variant Server FANCE_000017 1/13002 0/8598 1/4404
?/? c.552A>C r.(=) p.(=) g.35423827A>C Copied from the Exome Variant Server FANCE_000019 1/13000 1/8596 0/4404
?/? c.559G>A r.(?) p.(Glu187Lys) g.35423834G>A Copied from the Exome Variant Server FANCE_000021 2/13002 2/8596 0/4406
?/? c.599G>A r.(?) p.(Arg200His) g.35423874G>A Copied from the Exome Variant Server FANCE_000023 1/13006 0/8600 1/4406
?/? c.611C>T r.(?) p.(Ser204Leu) g.35423886C>T Copied from the Exome Variant Server FANCE_000025 550/13006 122/8600 428/4406
?/? c.627C>G r.(=) p.(=) g.35423902C>G Copied from the Exome Variant Server FANCE_000027 1/13006 0/8600 1/4406
?/? c.642G>A r.(=) p.(=) g.35423917G>A Copied from the Exome Variant Server FANCE_000029 1/13006 0/8600 1/4406
?/? c.652A>G r.(?) p.(Lys218Glu) g.35423927A>G Copied from the Exome Variant Server FANCE_000031 1/13006 1/8600 0/4406
?/? c.653A>G r.(?) p.(Lys218Arg) g.35423928A>G Copied from the Exome Variant Server FANCE_000033 1/13006 0/8600 1/4406
?/? c.676_678del r.(?) p.(Glu227del) g.35423951_35423953del Copied from the Exome Variant Server FANCE_000014 5/12518 4/8254 1/4264
?/? c.685C>T r.(?) p.(His229Tyr) g.35423960C>T Copied from the Exome Variant Server FANCE_000016 1/13006 0/8600 1/4406
?/? c.696G>A r.(=) p.(=) g.35423971G>A Copied from the Exome Variant Server FANCE_000018 11/13006 1/8600 10/4406
?/? c.703G>A r.(?) p.(Glu235Lys) g.35423978G>A Copied from the Exome Variant Server FANCE_000020 1/13006 1/8600 0/4406
?/? c.733_735del r.(?) p.(Gly246del) g.35424008_35424010del Copied from the Exome Variant Server FANCE_000022 75/12518 5/8254 70/4264
?/? c.821T>C r.(?) p.(Leu274Pro) g.35424096T>C Copied from the Exome Variant Server FANCE_000024 1/13006 0/8600 1/4406
?/? c.851T>C r.(?) p.(Ile284Thr) g.35424126T>C Copied from the Exome Variant Server FANCE_000026 1/13006 0/8600 1/4406
?/? c.856-70G>A r.(=) p.(=) g.35425263G>A Copied from the Exome Variant Server FANCE_000028 632/4564 165/3180 467/1384
?/? c.856-59G>A r.(=) p.(=) g.35425274G>A Copied from the Exome Variant Server FANCE_000030 13/4566 2/3182 11/1384
?/? c.856-38G>C r.(=) p.(=) g.35425295G>C Copied from the Exome Variant Server FANCE_000032 14/13004 0/8600 14/4404
?/? c.875_876del r.(?) p.(Gln292Profs*20) g.35425352_35425353del Copied from the Exome Variant Server FANCE_000034 1/12518 0/8254 1/4264
?/? c.898G>A r.(?) p.(Glu300Lys) g.35425375G>A Copied from the Exome Variant Server FANCE_000035 1/13006 1/8600 0/4406
?/? c.900+39A>G r.(=) p.(=) g.35425416A>G Copied from the Exome Variant Server FANCE_000036 5359/13006 4685/8600 674/4406
?/? c.918G>A r.(=) p.(=) g.35425710G>A Copied from the Exome Variant Server FANCE_000037 1/13006 0/8600 1/4406
?/? c.922_923insC r.(?) p.(Val311Serfs*2) g.35425714_35425715insC Copied from the Exome Variant Server FANCE_000038 30/12518 14/8254 16/4264
?/? c.926C>T r.(?) p.(Pro309Leu) g.35425718C>T Copied from the Exome Variant Server FANCE_000039 3/13006 0/8600 3/4406
?/? c.928C>G r.(?) p.(Pro310Ala) g.35425720C>G Copied from the Exome Variant Server FANCE_000040 1/13006 0/8600 1/4406
?/? c.929C>G r.(?) p.(Pro310Arg) g.35425721C>G Copied from the Exome Variant Server FANCE_000041 4/13006 0/8600 4/4406
?/? c.954A>G r.(=) p.(=) g.35425746A>G Copied from the Exome Variant Server FANCE_000042 2/13006 2/8600 0/4406
?/? c.960T>A r.(?) p.(Ser320Arg) g.35425752T>A Copied from the Exome Variant Server FANCE_000043 1/13006 0/8600 1/4406
?/? c.969+33A>G r.(=) p.(=) g.35425794A>G Copied from the Exome Variant Server FANCE_000044 1/13006 1/8600 0/4406
?/? c.969+39T>G r.(=) p.(=) g.35425800T>G Copied from the Exome Variant Server FANCE_000045 2/13006 1/8600 1/4406
?/? c.970-34C>T r.(=) p.(=) g.35426040C>T Copied from the Exome Variant Server FANCE_000046 4/13006 0/8600 4/4406
?/? c.970-33G>A r.(=) p.(=) g.35426041G>A Copied from the Exome Variant Server FANCE_000047 86/13006 1/8600 85/4406
?/? c.970-26T>G r.(=) p.(=) g.35426048T>G Copied from the Exome Variant Server FANCE_000048 15/13006 0/8600 15/4406
?/? c.970-16C>T r.(=) p.(=) g.35426058C>T Copied from the Exome Variant Server FANCE_000049 3/13006 1/8600 2/4406
?/? c.970-15G>A r.(=) p.(=) g.35426059G>A Copied from the Exome Variant Server FANCE_000050 1/13006 1/8600 0/4406
?/? c.983G>C r.(?) p.(Cys328Ser) g.35426087G>C Copied from the Exome Variant Server FANCE_000051 1/13006 1/8600 0/4406
?/? c.1001C>T r.(?) p.(Pro334Leu) g.35426105C>T Copied from the Exome Variant Server FANCE_000052 1/13006 1/8600 0/4406
?/? c.1018G>C r.(?) p.(Gly340Arg) g.35426122G>C Copied from the Exome Variant Server FANCE_000053 6/13006 5/8600 1/4406
?/? c.1062T>C r.(=) p.(=) g.35426166T>C Copied from the Exome Variant Server FANCE_000054 1/13006 1/8600 0/4406
?/? c.1071C>T r.(=) p.(=) g.35426175C>T Copied from the Exome Variant Server FANCE_000055 232/13006 197/8600 35/4406
?/? c.1086G>C r.(=) p.(=) g.35426190G>C Copied from the Exome Variant Server FANCE_000056 1/13006 0/8600 1/4406
?/? c.1095A>C r.(?) p.(Arg365Ser) g.35426199A>C Copied from the Exome Variant Server FANCE_000057 11/13006 0/8600 11/4406
?/? c.1113+23A>G r.(=) p.(=) g.35426240A>G Copied from the Exome Variant Server FANCE_000058 1/13006 1/8600 0/4406
?/? c.1113+23_1113+24insC r.(=) p.(=) g.35426240_35426241insC Copied from the Exome Variant Server FANCE_000059 4/12518 3/8254 1/4264
?/? c.1113+29C>T r.(=) p.(=) g.35426246C>T Copied from the Exome Variant Server FANCE_000060 3/13006 0/8600 3/4406
?/? c.1113+30C>T r.(=) p.(=) g.35426247C>T Copied from the Exome Variant Server FANCE_000061 1/13006 0/8600 1/4406
?/? c.1114-50G>A r.(=) p.(=) g.35427058G>A Copied from the Exome Variant Server FANCE_000062 1/13006 1/8600 0/4406
?/? c.1114-4G>A r.spl? p.? g.35427104G>A Copied from the Exome Variant Server FANCE_000063 5/13006 2/8600 3/4406
?/? c.1116C>T r.(=) p.(=) g.35427110C>T Copied from the Exome Variant Server FANCE_000064 4/13006 4/8600 0/4406
?/? c.1141C>T r.(?) p.(Arg381Cys) g.35427135C>T Copied from the Exome Variant Server FANCE_000065 1/13006 1/8600 0/4406
?/? c.1142G>A r.(?) p.(Arg381His) g.35427136G>A Copied from the Exome Variant Server FANCE_000066 1/13006 1/8600 0/4406
?/? c.1237+21_1237+22insG r.(=) p.(=) g.35427252_35427253insG Copied from the Exome Variant Server FANCE_000067 1/12518 0/8254 1/4264
?/? c.1310T>C r.(?) p.(Met437Thr) g.35427531T>C Copied from the Exome Variant Server FANCE_000069 10/13006 9/8600 1/4406
?/? c.1316+10C>T r.(=) p.(=) g.35427547C>T Copied from the Exome Variant Server FANCE_000071 1/13006 0/8600 1/4406
?/? c.1316+19G>A r.(=) p.(=) g.35427556G>A Copied from the Exome Variant Server FANCE_000073 1957/13006 451/8600 1506/4406
?/? c.1317-29C>A r.(=) p.(=) g.35428300C>A Copied from the Exome Variant Server FANCE_000075 1/13006 1/8600 0/4406
?/? c.1333C>T r.(?) p.(Pro445Ser) g.35428345C>T Copied from the Exome Variant Server FANCE_000077 6/13006 6/8600 0/4406
?/? c.1378C>G r.(?) p.(Arg460Gly) g.35428390C>G Copied from the Exome Variant Server FANCE_000079 1/13006 1/8600 0/4406
?/? c.1383+50T>C r.(=) p.(=) g.35428445T>C Copied from the Exome Variant Server FANCE_000068 1/13006 1/8600 0/4406
?/? c.1384-22C>T r.(=) p.(=) g.35430544C>T Copied from the Exome Variant Server FANCE_000070 1/13006 0/8600 1/4406
?/? c.1418T>A r.(?) p.(Met473Lys) g.35430600T>A Copied from the Exome Variant Server FANCE_000072 1/13006 0/8600 1/4406
?/? c.1449_1450insGTG r.(?) p.(Ala483_Thr484insVal) g.35430631_35430632insGTG Copied from the Exome Variant Server FANCE_000074 1/12518 1/8254 0/4264
?/? c.1459A>G r.(?) p.(Met487Val) g.35430641A>G Copied from the Exome Variant Server FANCE_000076 1/13006 1/8600 0/4406
?/? c.1504G>A r.(?) p.(Ala502Thr) g.35430686G>A Copied from the Exome Variant Server FANCE_000078 1964/13006 450/8600 1514/4406
?/? c.1509+13A>G r.(=) p.(=) g.35430704A>G Copied from the Exome Variant Server FANCE_000080 2/13006 1/8600 1/4406
?/? c.1510-11C>T r.(=) p.(=) g.35434010C>T Copied from the Exome Variant Server FANCE_000081 29/13006 27/8600 2/4406
?/? c.1556A>C r.(?) p.(Asn519Thr) g.35434067A>C Copied from the Exome Variant Server FANCE_000082 1/13006 1/8600 0/4406
?/? c.1572G>A r.(=) p.(=) g.35434083G>A Copied from the Exome Variant Server FANCE_000083 59/13006 54/8600 5/4406
?/? c.1588G>A r.(?) p.(Ala530Thr) g.35434099G>A Copied from the Exome Variant Server FANCE_000084 2/13006 1/8600 1/4406
?/? c.1591T>A r.(?) p.(Leu531Met) g.35434102T>A Copied from the Exome Variant Server FANCE_000085 3/13006 0/8600 3/4406
?/? c.1608C>G r.(=) p.(=) g.35434119C>G Copied from the Exome Variant Server FANCE_000086 1/13006 0/8600 1/4406
?/? c.1610G>T r.(?) p.(*537Leuext*27) g.35434121G>T Copied from the Exome Variant Server FANCE_000087 2/13006 0/8600 2/4406
?/? c.*16C>A r.(=) p.(=) g.35434138C>A Copied from the Exome Variant Server FANCE_000088 2/13006 1/8600 1/4406
?/? c.*39_*40insA r.(=) p.(=) g.35434161_35434162insA Copied from the Exome Variant Server FANCE_000089 8/12518 2/8254 6/4264
Legend