Full data view for gene FANCG

Information The variants shown are described using the NM_004629.1 transcript reference sequence.

111 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.-50T>C r.(=) p.(=) g.35079571A>G Copied from the Exome Variant Server FANCG_000111 1/13004 0/8598 1/4406 - - - - - - -
?/? c.-40C>G r.(=) p.(=) g.35079561G>C Copied from the Exome Variant Server FANCG_000110 4/13002 0/8596 4/4406 - - - - - - -
?/? c.20C>T r.(?) p.(Ser7Phe) g.35079502G>A Copied from the Exome Variant Server FANCG_000109 16/13006 16/8600 0/4406 - - - - - - -
?/? c.84+34C>T r.(=) p.(=) g.35079404G>A Copied from the Exome Variant Server FANCG_000108 2/13006 1/8600 1/4406 - - - - - - -
?/? c.85-36T>C r.(=) p.(=) g.35079274A>G Copied from the Exome Variant Server FANCG_000107 1/13006 0/8600 1/4406 - - - - - - -
?/? c.85-13C>T r.(=) p.(=) g.35079251G>A Copied from the Exome Variant Server FANCG_000106 1/13006 1/8600 0/4406 - - - - - - -
?/? c.126G>C r.(?) p.(Leu42Phe) g.35079197C>G Copied from the Exome Variant Server FANCG_000105 1/13004 0/8600 1/4404 - - - - - - -
?/? c.176-10G>A r.(=) p.(=) g.35078743C>T Copied from the Exome Variant Server FANCG_000104 1/13006 1/8600 0/4406 - - - - - - -
?/? c.238C>T r.(=) p.(=) g.35078671G>A Copied from the Exome Variant Server FANCG_000103 55/13006 1/8600 54/4406 - - - - - - -
?/? c.293G>A r.(?) p.(Arg98Gln) g.35078616C>T Copied from the Exome Variant Server FANCG_000102 1/13006 0/8600 1/4406 - - - - - - -
?/? c.307+43T>C r.(=) p.(=) g.35078559A>G Copied from the Exome Variant Server FANCG_000101 1/13006 0/8600 1/4406 - - - - - - -
?/? c.308-23A>G r.(=) p.(=) g.35078363T>C Copied from the Exome Variant Server FANCG_000100 3/13006 2/8600 1/4406 - - - - - - -
?/? c.308-12_308-11insGT r.(=) p.(=) g.35078351_35078352insAC Copied from the Exome Variant Server FANCG_000099 3/12518 3/8254 0/4264 - - - - - - -
?/? c.308-11A>G r.(=) p.(=) g.35078351T>C Copied from the Exome Variant Server FANCG_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.445C>T r.(?) p.(Leu149Phe) g.35078203G>A Copied from the Exome Variant Server FANCG_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.464G>A r.(?) p.(Arg155His) g.35078184C>T Copied from the Exome Variant Server FANCG_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.478G>A r.(?) p.(Ala160Thr) g.35078170C>T Copied from the Exome Variant Server FANCG_000095 6/13006 0/8600 6/4406 - - - - - - -
?/? c.510+38C>T r.(=) p.(=) g.35078100G>A Copied from the Exome Variant Server FANCG_000094 151/13006 127/8600 24/4406 - - - - - - -
?/? c.511-46G>A r.(=) p.(=) g.35077442C>T Copied from the Exome Variant Server FANCG_000093 2/13006 0/8600 2/4406 - - - - - - -
?/? c.511-45A>G r.(=) p.(=) g.35077441T>C Copied from the Exome Variant Server FANCG_000092 9909/13006 6664/8600 3245/4406 - - - - - - -
?/? c.583T>C r.(=) p.(=) g.35077324A>G Copied from the Exome Variant Server FANCG_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.620del r.(?) p.(Leu207Profs*2) g.35077287del Copied from the Exome Variant Server FANCG_000090 1/12516 1/8252 0/4264 - - - - - - -
?/? c.635C>T r.(?) p.(Ala212Val) g.35077272G>A Copied from the Exome Variant Server FANCG_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.640C>T r.(?) p.(Arg214Cys) g.35077267G>A Copied from the Exome Variant Server FANCG_000088 47/13006 1/8600 46/4406 - - - - - - -
?/? c.646+12A>G r.(=) p.(=) g.35077249T>C Copied from the Exome Variant Server FANCG_000087 19/13006 0/8600 19/4406 - - - - - - -
?/? c.646+18C>T r.(=) p.(=) g.35077243G>A Copied from the Exome Variant Server FANCG_000086 2/13006 2/8600 0/4406 - - - - - - -
?/? c.646+21A>G r.(=) p.(=) g.35077240T>C Copied from the Exome Variant Server FANCG_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.647-16C>A r.(=) p.(=) g.35077114G>T Copied from the Exome Variant Server FANCG_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.669G>A r.(=) p.(=) g.35077076C>T Copied from the Exome Variant Server FANCG_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.705G>A r.(=) p.(=) g.35077040C>T Copied from the Exome Variant Server FANCG_000082 3/13006 3/8600 0/4406 - - - - - - -
?/? c.739C>A r.(?) p.(Gln247Lys) g.35077006G>T Copied from the Exome Variant Server FANCG_000081 18/13006 0/8600 18/4406 - - - - - - -
?/? c.761C>T r.(?) p.(Ser254Phe) g.35076984G>A Copied from the Exome Variant Server FANCG_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.770G>A r.(?) p.(Arg257His) g.35076975C>T Copied from the Exome Variant Server FANCG_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.777+8C>G r.(=) p.(=) g.35076960G>C Copied from the Exome Variant Server FANCG_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.777+10G>C r.(=) p.(=) g.35076958C>G Copied from the Exome Variant Server FANCG_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.777+15A>G r.(=) p.(=) g.35076953T>C Copied from the Exome Variant Server FANCG_000076 2/13006 2/8600 0/4406 - - - - - - -
?/? c.777+23T>C r.(=) p.(=) g.35076945A>G Copied from the Exome Variant Server FANCG_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.777+45G>A r.(=) p.(=) g.35076923C>T Copied from the Exome Variant Server FANCG_000073 267/13006 3/8600 264/4406 - - - - - - -
?/? c.778-39G>C r.(=) p.(=) g.35076906C>G Copied from the Exome Variant Server FANCG_000071 267/13006 3/8600 264/4406 - - - - - - -
?/? c.787C>T r.(?) p.(Gln263*) g.35076858G>A Copied from the Exome Variant Server FANCG_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.809T>C r.(?) p.(Val270Ala) g.35076836A>G Copied from the Exome Variant Server FANCG_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.824_825del r.(?) p.(Glu275Glyfs*13) g.35076820_35076821del Copied from the Exome Variant Server FANCG_000065 3/12514 2/8250 1/4264 - - - - - - -
?/? c.890C>T r.(?) p.(Thr297Ile) g.35076755G>A Copied from the Exome Variant Server FANCG_000062 375/13006 16/8600 359/4406 - - - - - - -
?/? c.917T>C r.(?) p.(Leu306Pro) g.35076728A>G Copied from the Exome Variant Server FANCG_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.924+31G>A r.(=) p.(=) g.35076690C>T Copied from the Exome Variant Server FANCG_000059 8/13006 6/8600 2/4406 - - - - - - -
?/? c.925-50A>C r.(=) p.(=) g.35076630T>G Copied from the Exome Variant Server FANCG_000056 5/13006 0/8600 5/4406 - - - - - - -
?/? c.925-43G>T r.(=) p.(=) g.35076623C>A Copied from the Exome Variant Server FANCG_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.927C>T r.(=) p.(=) g.35076578G>A Copied from the Exome Variant Server FANCG_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.938_939insTGTCCC r.(?) p.(Val312_Pro313dup) g.35076566_35076567insGGGACA Copied from the Exome Variant Server FANCG_000070 1/12518 1/8254 0/4264 - - - - - - -
?/? c.953C>T r.(?) p.(Ala318Val) g.35076552G>A Copied from the Exome Variant Server FANCG_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.957G>C r.(=) p.(=) g.35076548C>G Copied from the Exome Variant Server FANCG_000067 5/13006 0/8600 5/4406 - - - - - - -
?/? c.984A>G r.(=) p.(=) g.35076521T>C Copied from the Exome Variant Server FANCG_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.988C>T r.(?) p.(Pro330Ser) g.35076517G>A Copied from the Exome Variant Server FANCG_000063 91/13006 1/8600 90/4406 - - - - - - -
?/? c.1016A>G r.(?) p.(His339Arg) g.35076489T>C Copied from the Exome Variant Server FANCG_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1021G>A r.(?) p.(Gly341Ser) g.35076484C>T Copied from the Exome Variant Server FANCG_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1076+16C>T r.(=) p.(=) g.35076413G>A Copied from the Exome Variant Server FANCG_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1076+34C>T r.(=) p.(=) g.35076395G>A Copied from the Exome Variant Server FANCG_000055 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1077-13T>G r.(=) p.(=) g.35076038A>C Copied from the Exome Variant Server FANCG_000054 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1086C>T r.(=) p.(=) g.35076016G>A Copied from the Exome Variant Server FANCG_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1133C>T r.(?) p.(Ser378Leu) g.35075969G>A Copied from the Exome Variant Server FANCG_000052 446/13006 2/8600 444/4406 - - - - - - -
?/? c.1144-25del r.(=) p.(=) g.35075776del Copied from the Exome Variant Server FANCG_000051 3/12516 3/8252 0/4264 - - - - - - -
?/? c.1144-17T>G r.(=) p.(=) g.35075768A>C Copied from the Exome Variant Server FANCG_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1156C>G r.(?) p.(Pro386Ala) g.35075739G>C Copied from the Exome Variant Server FANCG_000049 1/12994 1/8590 0/4404 - - - - - - -
?/? c.1157C>G r.(?) p.(Pro386Arg) g.35075738G>C Copied from the Exome Variant Server FANCG_000048 4/12996 0/8592 4/4404 - - - - - - -
?/? c.1158_1159insC r.(?) p.(Ser387Leufs*9) g.35075736_35075737insG Copied from the Exome Variant Server FANCG_000047 9/12440 3/8196 6/4244 - - - - - - -
?/? c.1233A>G r.(=) p.(=) g.35075662T>C Copied from the Exome Variant Server FANCG_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1297C>T r.(?) p.(Arg433Trp) g.35075598G>A Copied from the Exome Variant Server FANCG_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1367A>T r.(?) p.(His456Leu) g.35075528T>A Copied from the Exome Variant Server FANCG_000044 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1422T>C r.(=) p.(=) g.35075473A>G Copied from the Exome Variant Server FANCG_000043 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1433+9G>A r.(=) p.(=) g.35075453C>T Copied from the Exome Variant Server FANCG_000042 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1433+21G>A r.(=) p.(=) g.35075441C>T Copied from the Exome Variant Server FANCG_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1433+46T>C r.(=) p.(=) g.35075416A>G Copied from the Exome Variant Server FANCG_000040 9/13006 3/8600 6/4406 - - - - - - -
?/? c.1434-50G>C r.(=) p.(=) g.35075372C>G Copied from the Exome Variant Server FANCG_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1434-44C>T r.(=) p.(=) g.35075366G>A Copied from the Exome Variant Server FANCG_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1434-37T>G r.(=) p.(=) g.35075359A>C Copied from the Exome Variant Server FANCG_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1434-23C>T r.(=) p.(=) g.35075345G>A Copied from the Exome Variant Server FANCG_000036 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1454G>A r.(?) p.(Arg485Gln) g.35075302C>T Copied from the Exome Variant Server FANCG_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1462C>T r.(?) p.(Pro488Ser) g.35075294G>A Copied from the Exome Variant Server FANCG_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1480+1G>C r.spl? p.? g.35075275C>G Copied from the Exome Variant Server FANCG_000033 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1480+7T>C r.(=) p.(=) g.35075269A>G Copied from the Exome Variant Server FANCG_000032 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1481-29C>T r.(=) p.(=) g.35075108G>A Copied from the Exome Variant Server FANCG_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1483G>A r.(?) p.(Ala495Thr) g.35075077C>T Copied from the Exome Variant Server FANCG_000030 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1519G>A r.(?) p.(Ala507Thr) g.35075041C>T Copied from the Exome Variant Server FANCG_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1520C>T r.(?) p.(Ala507Val) g.35075040G>A Copied from the Exome Variant Server FANCG_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1525C>T r.(=) p.(=) g.35075035G>A Copied from the Exome Variant Server FANCG_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1538G>A r.(?) p.(Arg513Gln) g.35075022C>T Copied from the Exome Variant Server FANCG_000026 93/13006 80/8600 13/4406 - - - - - - -
?/? c.1545C>T r.(=) p.(=) g.35075015G>A Copied from the Exome Variant Server FANCG_000025 4/13006 1/8600 3/4406 - - - - - - -
?/? c.1546G>A r.(?) p.(Ala516Thr) g.35075014C>T Copied from the Exome Variant Server FANCG_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1573del r.(?) p.(Val525*) g.35074987del Copied from the Exome Variant Server FANCG_000023 7/12518 3/8254 4/4264 - - - - - - -
?/? c.1636+7A>G r.(=) p.(=) g.35074917T>C Copied from the Exome Variant Server FANCG_000022 4710/13006 4294/8600 416/4406 - - - - - - -
?/? c.1636+14C>T r.(=) p.(=) g.35074910G>A Copied from the Exome Variant Server FANCG_000021 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1636+20G>A r.(=) p.(=) g.35074904C>T Copied from the Exome Variant Server FANCG_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1636+23G>A r.(=) p.(=) g.35074901C>T Copied from the Exome Variant Server FANCG_000019 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1637-45A>T r.(=) p.(=) g.35074536T>A Copied from the Exome Variant Server FANCG_000017 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1637-27A>G r.(=) p.(=) g.35074518T>C Copied from the Exome Variant Server FANCG_000015 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1637-24C>G r.(=) p.(=) g.35074515G>C Copied from the Exome Variant Server FANCG_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1637-24_1637-23del r.(=) p.(=) g.35074514_35074515del Copied from the Exome Variant Server FANCG_000018 98/12518 7/8254 91/4264 - - - - - - -
?/? c.1638T>C r.(=) p.(=) g.35074490A>G Copied from the Exome Variant Server FANCG_000016 18/13006 0/8600 18/4406 - - - - - - -
?/? c.1689G>C r.(=) p.(=) g.35074439C>G Copied from the Exome Variant Server FANCG_000014 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1718G>T r.(?) p.(Arg573Met) g.35074410C>A Copied from the Exome Variant Server FANCG_000012 1/13006 1/8600 0/4406 - - - - - - -
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