All transcript variants in gene FANCI

Information The variants shown are described using the NM_018193.2 transcript reference sequence.

322 entries on 4 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.-19-10T>C r.(=) p.(=) g.89790850T>C Copied from the Exome Variant Server FANCI_000001 59/12998 2/8598 57/4400
?/? c.-19-1G>A r.(=) p.(=) g.89790859G>A Copied from the Exome Variant Server FANCI_000002 1/12998 0/8598 1/4400
?/? c.-10A>G r.(=) p.(=) g.89790869A>G Copied from the Exome Variant Server FANCI_000003 3/12998 3/8598 0/4400
?/? c.8A>G r.(?) p.(Gln3Arg) g.89790886A>G Copied from the Exome Variant Server FANCI_000004 1/12998 0/8598 1/4400
?/? c.17T>C r.(?) p.(Leu6Ser) g.89790895T>C Copied from the Exome Variant Server FANCI_000005 2/12998 2/8598 0/4400
?/? c.84+1G>C r.spl? p.? g.89790963G>C Copied from the Exome Variant Server FANCI_000006 1/12998 1/8598 0/4400
?/? c.84+39C>T r.(=) p.(=) g.89791001C>T Copied from the Exome Variant Server FANCI_000007 1/12998 1/8598 0/4400
?/? c.85-2A>G r.spl? p.? g.89801933A>G Copied from the Exome Variant Server FANCI_000008 1/12998 1/8598 0/4400
?/? c.89C>T r.(?) p.(Thr30Ile) g.89801939C>T Copied from the Exome Variant Server FANCI_000009 1/12998 0/8598 1/4400
?/? c.157+12T>A r.(=) p.(=) g.89802019T>A Copied from the Exome Variant Server FANCI_000010 1/12998 1/8598 0/4400
?/? c.157+51T>C r.(=) p.(=) g.89802058T>C Copied from the Exome Variant Server FANCI_000011 2/12998 2/8598 0/4400
?/? c.158-42G>T r.(=) p.(=) g.89803902G>T Copied from the Exome Variant Server FANCI_000012 393/12998 12/8598 381/4400
?/? c.158-21C>G r.(=) p.(=) g.89803923C>G Copied from the Exome Variant Server FANCI_000013 1/12998 1/8598 0/4400
?/? c.158G>C r.(?) p.(Gly53Ala) g.89803944G>C Copied from the Exome Variant Server FANCI_000014 8/12998 8/8598 0/4400
?/? c.161del r.(?) p.(Cys56Alafs*30) g.89803947del Copied from the Exome Variant Server FANCI_000015 60/12518 46/8254 14/4264
?/? c.164C>T r.(?) p.(Pro55Leu) g.89803950C>T Copied from the Exome Variant Server FANCI_000016 686/12998 583/8598 103/4400
?/? c.165C>T r.(=) p.(=) g.89803951C>T Copied from the Exome Variant Server FANCI_000017 3/12998 1/8598 2/4400
?/? c.196C>T r.(?) p.(Arg66Cys) g.89803982C>T Copied from the Exome Variant Server FANCI_000018 1/12998 1/8598 0/4400
?/? c.205T>C r.(?) p.(Tyr69His) g.89803991T>C Copied from the Exome Variant Server FANCI_000019 1/12998 1/8598 0/4400
?/? c.211T>A r.(?) p.(Cys71Ser) g.89803997T>A Copied from the Exome Variant Server FANCI_000020 1/12998 0/8598 1/4400
?/? c.217A>T r.(?) p.(Ile73Phe) g.89804003A>T Copied from the Exome Variant Server FANCI_000021 1/12998 1/8598 0/4400
?/? c.257C>T r.(?) p.(Ala86Val) g.89804043C>T Copied from the Exome Variant Server FANCI_000022 3721/12998 3304/8598 417/4400
?/? c.286G>A r.(?) p.(Glu96Lys) g.89804072G>A Copied from the Exome Variant Server FANCI_000023 2/12998 2/8598 0/4400
?/? c.288+10C>T r.(=) p.(=) g.89804084C>T Copied from the Exome Variant Server FANCI_000024 3/12998 3/8598 0/4400
?/? c.288+30G>A r.(=) p.(=) g.89804104G>A Copied from the Exome Variant Server FANCI_000025 1/12998 0/8598 1/4400
?/? c.288+37G>A r.(=) p.(=) g.89804111G>A Copied from the Exome Variant Server FANCI_000026 6182/12998 3347/8598 2835/4400
?/? c.288+46G>C r.(=) p.(=) g.89804120G>C Copied from the Exome Variant Server FANCI_000027 1/12998 1/8598 0/4400
?/? c.288+47G>T r.(=) p.(=) g.89804121G>T Copied from the Exome Variant Server FANCI_000028 1/12998 1/8598 0/4400
?/? c.289-46A>G r.(=) p.(=) g.89804770A>G Copied from the Exome Variant Server FANCI_000029 1/12986 0/8596 1/4390
?/? c.329A>G r.(?) p.(Asn110Ser) g.89804856A>G Copied from the Exome Variant Server FANCI_000030 1/12998 0/8598 1/4400
?/? c.362T>C r.(?) p.(Leu121Pro) g.89804889T>C Copied from the Exome Variant Server FANCI_000031 1/12998 1/8598 0/4400
?/? c.406G>A r.(?) p.(Ala136Thr) g.89804933G>A Copied from the Exome Variant Server FANCI_000032 2/12998 0/8598 2/4400
?/? c.437A>G r.(?) p.(Tyr146Cys) g.89804964A>G Copied from the Exome Variant Server FANCI_000033 2/12998 0/8598 2/4400
?/? c.445+13C>T r.(=) p.(=) g.89804985C>T Copied from the Exome Variant Server FANCI_000034 1/12998 1/8598 0/4400
?/? c.445+40C>T r.(=) p.(=) g.89805012C>T Copied from the Exome Variant Server FANCI_000035 1/12998 0/8598 1/4400
?/? c.446-32A>G r.(=) p.(=) g.89805020A>G Copied from the Exome Variant Server FANCI_000036 3/12998 3/8598 0/4400
?/? c.446-22T>C r.(=) p.(=) g.89805030T>C Copied from the Exome Variant Server FANCI_000037 1/12998 1/8598 0/4400
?/? c.446-6T>G r.(=) p.(=) g.89805046T>G Copied from the Exome Variant Server FANCI_000038 1/12998 1/8598 0/4400
?/? c.467G>A r.(?) p.(Cys156Tyr) g.89805073G>A Copied from the Exome Variant Server FANCI_000039 3/12998 0/8598 3/4400
?/? c.503+45C>T r.(=) p.(=) g.89805154C>T Copied from the Exome Variant Server FANCI_000040 13/12996 13/8598 0/4398
?/? c.504-49T>C r.(=) p.(=) g.89806601T>C Copied from the Exome Variant Server FANCI_000041 37/12996 32/8596 5/4400
?/? c.528A>G r.(=) p.(=) g.89806674A>G Copied from the Exome Variant Server FANCI_000042 2/12998 1/8598 1/4400
?/? c.539T>C r.(?) p.(Met180Thr) g.89806685T>C Copied from the Exome Variant Server FANCI_000043 2/12998 1/8598 1/4400
?/? c.545+19C>T r.(=) p.(=) g.89806710C>T Copied from the Exome Variant Server FANCI_000044 4524/12998 3148/8598 1376/4400
?/? c.545+30G>A r.(=) p.(=) g.89806721G>A Copied from the Exome Variant Server FANCI_000045 4818/12998 3329/8598 1489/4400
?/? c.546-26T>C r.(=) p.(=) g.89807108T>C Copied from the Exome Variant Server FANCI_000046 1/12998 0/8598 1/4400
?/? c.595T>C r.(=) p.(=) g.89807183T>C Copied from the Exome Variant Server FANCI_000047 2/12998 0/8598 2/4400
?/? c.623A>G r.(?) p.(Gln208Arg) g.89807211A>G Copied from the Exome Variant Server FANCI_000048 1/12998 1/8598 0/4400
?/? c.655G>A r.(?) p.(Val219Ile) g.89807243G>A Copied from the Exome Variant Server FANCI_000049 1/12998 1/8598 0/4400
?/? c.669+14A>G r.(=) p.(=) g.89807271A>G Copied from the Exome Variant Server FANCI_000050 1/12998 1/8598 0/4400
?/? c.669+50T>C r.(=) p.(=) g.89807307T>C Copied from the Exome Variant Server FANCI_000051 1/12998 1/8598 0/4400
?/? c.670-34T>C r.(=) p.(=) g.89807719T>C Copied from the Exome Variant Server FANCI_000052 1/12996 1/8596 0/4400
?/? c.670-21C>T r.(=) p.(=) g.89807732C>T Copied from the Exome Variant Server FANCI_000053 1/12996 0/8596 1/4400
?/? c.670-13G>A r.(=) p.(=) g.89807740G>A Copied from the Exome Variant Server FANCI_000055 1/12996 0/8596 1/4400
?/? c.670-10_670-8del r.(=) p.(=) g.89807743_89807745del Copied from the Exome Variant Server FANCI_000057 101/12516 67/8252 34/4264
?/? c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G Copied from the Exome Variant Server FANCI_000059 1/12998 1/8598 0/4400
?/? c.753C>T r.(=) p.(=) g.89807836C>T Copied from the Exome Variant Server FANCI_000062 19/12998 13/8598 6/4400
?/? c.755+9T>C r.(=) p.(=) g.89807847T>C Copied from the Exome Variant Server FANCI_000064 1/12998 1/8598 0/4400
?/? c.755+47del r.(=) p.(=) g.89807885del Copied from the Exome Variant Server FANCI_000065 6/12518 6/8254 0/4264
?/? c.755+53T>C r.(=) p.(=) g.89807891T>C Copied from the Exome Variant Server FANCI_000054 70/4558 0/3180 70/1378
?/? c.791T>A r.(?) p.(Leu264His) g.89811665T>A Copied from the Exome Variant Server FANCI_000056 1/12998 1/8598 0/4400
?/? c.794G>A r.(?) p.(Arg265His) g.89811668G>A Copied from the Exome Variant Server FANCI_000058 1/12998 1/8598 0/4400
?/? c.798T>C r.(=) p.(=) g.89811672T>C Copied from the Exome Variant Server FANCI_000060 1/12998 0/8598 1/4400
?/? c.824T>C r.(?) p.(Ile275Thr) g.89811698T>C Copied from the Exome Variant Server FANCI_000061 7/12998 6/8598 1/4400
?/? c.850G>A r.(?) p.(Glu284Lys) g.89811724G>A Copied from the Exome Variant Server FANCI_000063 1/12998 1/8598 0/4400
?/? c.868G>A r.(?) p.(Val290Met) g.89811742G>A Copied from the Exome Variant Server FANCI_000066 223/12998 1/8598 222/4400
?/? c.882+10A>G r.(=) p.(=) g.89811766A>G Copied from the Exome Variant Server FANCI_000067 2/12998 0/8598 2/4400
?/? c.882+34_882+35del r.(=) p.(=) g.89811790_89811791del Copied from the Exome Variant Server FANCI_000068 194/12518 0/8254 194/4264
?/? c.883-13T>C r.(=) p.(=) g.89816595T>C Copied from the Exome Variant Server FANCI_000069 1/12998 1/8598 0/4400
?/? c.914T>C r.(?) p.(Leu305Ser) g.89816639T>C Copied from the Exome Variant Server FANCI_000070 1/12998 0/8598 1/4400
?/? c.946G>A r.(?) p.(Val316Ile) g.89816671G>A Copied from the Exome Variant Server FANCI_000071 1/12998 0/8598 1/4400
?/? c.974A>G r.(?) p.(Gln325Arg) g.89816699A>G Copied from the Exome Variant Server FANCI_000072 1/12998 1/8598 0/4400
?/? c.975+42T>C r.(=) p.(=) g.89816742T>C Copied from the Exome Variant Server FANCI_000073 396/12930 3/8572 393/4358
?/? c.976-49A>C r.(=) p.(=) g.89817350A>C Copied from the Exome Variant Server FANCI_000074 34/9424 2/6182 32/3242
?/? c.993G>A r.(=) p.(=) g.89817416G>A Copied from the Exome Variant Server FANCI_000075 2/12912 0/8548 2/4364
?/? c.999G>A r.(=) p.(=) g.89817422G>A Copied from the Exome Variant Server FANCI_000076 1/12950 1/8576 0/4374
?/? c.1027_1029del r.(?) p.(Leu344del) g.89817450_89817452del Copied from the Exome Variant Server FANCI_000077 39/12512 30/8252 9/4260
?/? c.1052A>T r.(?) p.(Gln351Leu) g.89817475A>T Copied from the Exome Variant Server FANCI_000078 2/12996 0/8596 2/4400
?/? c.1073C>T r.(?) p.(Ser358Phe) g.89817496C>T Copied from the Exome Variant Server FANCI_000079 1/12998 0/8598 1/4400
?/? c.1092C>T r.(=) p.(=) g.89817515C>T Copied from the Exome Variant Server FANCI_000080 1/12998 0/8598 1/4400
?/? c.1112+3A>G r.spl? p.? g.89817538A>G Copied from the Exome Variant Server FANCI_000081 1/12998 0/8598 1/4400
?/? c.1113-24T>A r.(=) p.(=) g.89819918T>A Copied from the Exome Variant Server FANCI_000082 1/12994 1/8598 0/4396
?/? c.1114G>A r.(?) p.(Val372Ile) g.89819943G>A Copied from the Exome Variant Server FANCI_000083 228/12998 1/8598 227/4400
?/? c.1129C>G r.(?) p.(His377Asp) g.89819958C>G Copied from the Exome Variant Server FANCI_000084 1/12998 1/8598 0/4400
?/? c.1157G>A r.(?) p.(Gly386Asp) g.89819986G>A Copied from the Exome Variant Server FANCI_000085 1/12998 1/8598 0/4400
?/? c.1179T>C r.(=) p.(=) g.89820008T>C Copied from the Exome Variant Server FANCI_000086 10/12998 6/8598 4/4400
?/? c.1185A>C r.(=) p.(=) g.89820014A>C Copied from the Exome Variant Server FANCI_000087 1/12998 1/8598 0/4400
?/? c.1211T>C r.(?) p.(Ile404Thr) g.89820040T>C Copied from the Exome Variant Server FANCI_000088 39/12998 0/8598 39/4400
?/? c.1213G>A r.(?) p.(Glu405Lys) g.89820042G>A Copied from the Exome Variant Server FANCI_000089 1/12998 1/8598 0/4400
?/? c.1250A>G r.(?) p.(His417Arg) g.89820079A>G Copied from the Exome Variant Server FANCI_000090 2/12998 2/8598 0/4400
?/? c.1263C>T r.(=) p.(=) g.89820092C>T Copied from the Exome Variant Server FANCI_000091 1/12998 1/8598 0/4400
?/? c.1264G>A r.(?) p.(Gly422Arg) g.89820093G>A Copied from the Exome Variant Server FANCI_000092 3/12998 3/8598 0/4400
?/? c.1293+26C>T r.(=) p.(=) g.89820148C>T Copied from the Exome Variant Server FANCI_000093 1/12994 1/8594 0/4400
?/? c.1293+35T>A r.(=) p.(=) g.89820157T>A Copied from the Exome Variant Server FANCI_000094 1/12944 0/8576 1/4368
?/? c.1294-8C>T r.(=) p.(=) g.89821910C>T Copied from the Exome Variant Server FANCI_000095 444/12998 4/8598 440/4400
?/? c.1321T>C r.(=) p.(=) g.89821945T>C Copied from the Exome Variant Server FANCI_000096 1/12998 1/8598 0/4400
?/? c.1326G>A r.(=) p.(=) g.89821950G>A Copied from the Exome Variant Server FANCI_000097 120/12998 0/8598 120/4400
?/? c.1381+23A>G r.(=) p.(=) g.89822028A>G Copied from the Exome Variant Server FANCI_000098 40/12996 2/8596 38/4400
?/? c.1381+25A>T r.(=) p.(=) g.89822030A>T Copied from the Exome Variant Server FANCI_000099 3/12992 0/8592 3/4400
?/? c.1382-42_1382-38del r.(=) p.(=) g.89824359_89824363del Copied from the Exome Variant Server FANCI_000100 9/12518 2/8254 7/4264
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