Full data view for gene FGD1

Information The variants shown are described using the NM_004463.2 transcript reference sequence.

109 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.110C>T r.(?) p.(Ala37Val) g.54521756G>A Copied from the Exome Variant Server FGD1_000108 8/9853 2/6271 6/3582 - - - - - - -
?/? c.200G>A r.(?) p.(Ser67Asn) g.54521666C>T Copied from the Exome Variant Server FGD1_000107 1/10462 1/6673 0/3789 - - - - - - -
?/? c.234C>T r.(=) p.(=) g.54521632G>A Copied from the Exome Variant Server FGD1_000106 3/10492 0/6687 3/3805 - - - - - - -
?/? c.268C>T r.(?) p.(Arg90Cys) g.54521598G>A Copied from the Exome Variant Server FGD1_000105 1/10494 0/6693 1/3801 - - - - - - -
?/? c.308-44G>C r.(=) p.(=) g.54497964C>G Copied from the Exome Variant Server FGD1_000104 7/10527 0/6707 7/3820 - - - - - - -
?/? c.395G>A r.(?) p.(Arg132Gln) g.54497833C>T Copied from the Exome Variant Server FGD1_000103 23/10563 21/6728 2/3835 - - - - - - -
?/? c.412G>A r.(?) p.(Gly138Ser) g.54497816C>T Copied from the Exome Variant Server FGD1_000102 1/10563 0/6728 1/3835 - - - - - - -
?/? c.481+7G>T r.(=) p.(=) g.54497740C>A Copied from the Exome Variant Server FGD1_000101 1/10563 0/6728 1/3835 - - - - - - -
?/? c.481+33C>T r.(=) p.(=) g.54497714G>A Copied from the Exome Variant Server FGD1_000100 1/10559 0/6725 1/3834 - - - - - - -
?/? c.527del r.(?) p.(Pro176Hisfs*39) g.54497148del Copied from the Exome Variant Server FGD1_000099 111/8972 69/5726 42/3246 - - - - - - -
?/? c.527dup r.(?) p.(Leu177Thrfs*40) g.54497148dup Copied from the Exome Variant Server FGD1_000098 114/8972 69/5726 45/3246 - - - - - - -
?/? c.622T>C r.(?) p.(Ser208Pro) g.54497053A>G Copied from the Exome Variant Server FGD1_000097 7/10559 0/6726 7/3833 - - - - - - -
?/? c.630A>G r.(=) p.(=) g.54497045T>C Copied from the Exome Variant Server FGD1_000096 1/10560 1/6726 0/3834 - - - - - - -
?/? c.639A>G r.(=) p.(=) g.54497036T>C Copied from the Exome Variant Server FGD1_000095 1/10563 0/6728 1/3835 - - - - - - -
?/? c.659+27T>C r.(=) p.(=) g.54496989A>G Copied from the Exome Variant Server FGD1_000094 880/10563 492/6728 388/3835 - - - - - - -
?/? c.659+37G>A r.(=) p.(=) g.54496979C>T Copied from the Exome Variant Server FGD1_000093 2/10561 0/6727 2/3834 - - - - - - -
?/? c.659+43C>A r.(=) p.(=) g.54496973G>T Copied from the Exome Variant Server FGD1_000092 2/10560 2/6726 0/3834 - - - - - - -
?/? c.660-46G>A r.(=) p.(=) g.54496936C>T Copied from the Exome Variant Server FGD1_000091 1/10560 1/6727 0/3833 - - - - - - -
?/? c.675C>T r.(=) p.(=) g.54496875G>A Copied from the Exome Variant Server FGD1_000090 1/10539 1/6712 0/3827 - - - - - - -
?/? c.676G>A r.(?) p.(Ala226Thr) g.54496874C>T Copied from the Exome Variant Server FGD1_000089 25/10536 23/6709 2/3827 - - - - - - -
?/? c.697G>A r.(?) p.(Gly233Ser) g.54496853C>T Copied from the Exome Variant Server FGD1_000088 1/10538 1/6713 0/3825 - - - - - - -
?/? c.746C>T r.(?) p.(Ser249Leu) g.54496804G>A Copied from the Exome Variant Server FGD1_000087 2/10555 2/6724 0/3831 - - - - - - -
?/? c.772G>A r.(?) p.(Glu258Lys) g.54496778C>T Copied from the Exome Variant Server FGD1_000086 2/10557 1/6727 1/3830 - - - - - - -
?/? c.817C>T r.(?) p.(Arg273Trp) g.54496733G>A Copied from the Exome Variant Server FGD1_000085 1/10557 0/6726 1/3831 - - - - - - -
?/? c.909C>T r.(=) p.(=) g.54496641G>A Copied from the Exome Variant Server FGD1_000084 1/10556 0/6722 1/3834 - - - - - - -
?/? c.935C>T r.(?) p.(Pro312Leu) g.54496615G>A Copied from the Exome Variant Server FGD1_000082 7/10558 7/6724 0/3834 - - - - - - -
?/? c.986G>A r.(?) p.(Arg329Gln) g.54496564C>T Copied from the Exome Variant Server FGD1_000080 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1029C>T r.(=) p.(=) g.54496521G>A Copied from the Exome Variant Server FGD1_000078 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1069G>T r.(?) p.(Val357Leu) g.54496481C>A Copied from the Exome Variant Server FGD1_000076 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1093T>G r.(?) p.(Ser365Ala) g.54496457A>C Copied from the Exome Variant Server FGD1_000074 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1101+20G>C r.(=) p.(=) g.54496429C>G Copied from the Exome Variant Server FGD1_000109 160/10563 0/6728 160/3835 - - - - - - -
?/? c.1101+51C>T r.(=) p.(=) g.54496398G>A Copied from the Exome Variant Server FGD1_000083 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1102-43G>A r.(=) p.(=) g.54495352C>T Copied from the Exome Variant Server FGD1_000081 3/10560 0/6725 3/3835 - - - - - - -
?/? c.1108G>T r.(?) p.(Val370Leu) g.54495303C>A Copied from the Exome Variant Server FGD1_000079 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1165G>A r.(?) p.(Val389Ile) g.54495246C>T Copied from the Exome Variant Server FGD1_000077 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1191+30C>G r.(=) p.(=) g.54495190G>C Copied from the Exome Variant Server FGD1_000075 1/10561 1/6727 0/3834 - - - - - - -
?/? c.1192-30T>C r.(=) p.(=) g.54494395A>G Copied from the Exome Variant Server FGD1_000073 1/10376 1/6600 0/3776 - - - - - - -
?/? c.1245C>T r.(=) p.(=) g.54494312G>A Copied from the Exome Variant Server FGD1_000072 1/10488 1/6685 0/3803 - - - - - - -
?/? c.1340+7G>A r.(=) p.(=) g.54494210C>T Copied from the Exome Variant Server FGD1_000071 1/10066 0/6373 1/3693 - - - - - - -
?/? c.1392C>T r.(=) p.(=) g.54492234G>A Copied from the Exome Variant Server FGD1_000070 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1432G>T r.(?) p.(Val478Leu) g.54492194C>A Copied from the Exome Variant Server FGD1_000069 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1440G>C r.(=) p.(=) g.54492186C>G Copied from the Exome Variant Server FGD1_000068 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1464C>T r.(=) p.(=) g.54492162G>A Copied from the Exome Variant Server FGD1_000067 7/10563 0/6728 7/3835 - - - - - - -
?/? c.1497+46G>A r.(=) p.(=) g.54492083C>T Copied from the Exome Variant Server FGD1_000066 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1575T>G r.(=) p.(=) g.54491945A>C Copied from the Exome Variant Server FGD1_000065 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1617G>A r.(=) p.(=) g.54491903C>T Copied from the Exome Variant Server FGD1_000064 22/10563 1/6728 21/3835 - - - - - - -
?/? c.1636+21C>T r.(=) p.(=) g.54491863G>A Copied from the Exome Variant Server FGD1_000063 28/10563 16/6728 12/3835 - - - - - - -
?/? c.1636+29A>C r.(=) p.(=) g.54491855T>G Copied from the Exome Variant Server FGD1_000062 21/10563 0/6728 21/3835 - - - - - - -
?/? c.1637-73del r.(=) p.(=) g.54483073del Copied from the Exome Variant Server FGD1_000061 2711/9893 1252/6298 1459/3595 - - - - - - -
?/? c.1637-73dup r.(=) p.(=) g.54483073dup Copied from the Exome Variant Server FGD1_000060 1152/9893 892/6298 260/3595 - - - - - - -
?/? c.1637-73_1637-72del r.(=) p.(=) g.54483072_54483073del Copied from the Exome Variant Server FGD1_000059 167/9893 71/6298 96/3595 - - - - - - -
?/? c.1637-49G>C r.(=) p.(=) g.54483049C>G Copied from the Exome Variant Server FGD1_000058 21/10563 0/6728 21/3835 - - - - - - -
?/? c.1647G>A r.(=) p.(=) g.54482990C>T Copied from the Exome Variant Server FGD1_000057 7/10563 0/6728 7/3835 - - - - - - -
?/? c.1695+22T>C r.(=) p.(=) g.54482920A>G Copied from the Exome Variant Server FGD1_000056 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1696-30C>T r.(=) p.(=) g.54482829G>A Copied from the Exome Variant Server FGD1_000055 3/10563 1/6728 2/3835 - - - - - - -
?/? c.1696-29C>T r.(=) p.(=) g.54482828G>A Copied from the Exome Variant Server FGD1_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1731G>A r.(=) p.(=) g.54482764C>T Copied from the Exome Variant Server FGD1_000053 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1842+20T>C r.(=) p.(=) g.54482633A>G Copied from the Exome Variant Server FGD1_000052 36/10563 0/6728 36/3835 - - - - - - -
?/? c.1843-10T>C r.(=) p.(=) g.54482227A>G Copied from the Exome Variant Server FGD1_000051 1/10502 1/6685 0/3817 - - - - - - -
?/? c.1843-3T>C r.spl? p.? g.54482220A>G Copied from the Exome Variant Server FGD1_000050 2/10524 0/6703 2/3821 - - - - - - -
?/? c.2007C>T r.(=) p.(=) g.54481889G>A Copied from the Exome Variant Server FGD1_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2015+29C>T r.(=) p.(=) g.54481852G>A Copied from the Exome Variant Server FGD1_000048 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2015+32C>T r.(=) p.(=) g.54481849G>A Copied from the Exome Variant Server FGD1_000047 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2015+33G>A r.(=) p.(=) g.54481848C>T Copied from the Exome Variant Server FGD1_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2015+41C>A r.(=) p.(=) g.54481840G>T Copied from the Exome Variant Server FGD1_000045 4/10563 4/6728 0/3835 - - - - - - -
?/? c.2015+48G>C r.(=) p.(=) g.54481833C>G Copied from the Exome Variant Server FGD1_000044 4062/10562 881/6728 3181/3834 - - - - - - -
?/? c.2016-44G>A r.(=) p.(=) g.54476778C>T Copied from the Exome Variant Server FGD1_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2043C>T r.(=) p.(=) g.54476707G>A Copied from the Exome Variant Server FGD1_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2046+49C>T r.(=) p.(=) g.54476655G>A Copied from the Exome Variant Server FGD1_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2047-5C>A r.spl? p.? g.54476198G>T Copied from the Exome Variant Server FGD1_000040 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2091T>C r.(=) p.(=) g.54476149A>G Copied from the Exome Variant Server FGD1_000039 2112/10563 106/6728 2006/3835 - - - - - - -
?/? c.2136A>G r.(=) p.(=) g.54476104T>C Copied from the Exome Variant Server FGD1_000038 1783/10563 105/6728 1678/3835 - - - - - - -
?/? c.2148+33G>T r.(=) p.(=) g.54476059C>A Copied from the Exome Variant Server FGD1_000036 4/10563 0/6728 4/3835 - - - - - - -
?/? c.2167C>T r.(?) p.(Arg723Trp) g.54475683G>A Copied from the Exome Variant Server FGD1_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2178G>A r.(=) p.(=) g.54475672C>T Copied from the Exome Variant Server FGD1_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2268C>T r.(=) p.(=) g.54475582G>A Copied from the Exome Variant Server FGD1_000030 22/10563 0/6728 22/3835 - - - - - - -
?/? c.2274+16C>A r.(=) p.(=) g.54475560G>T Copied from the Exome Variant Server FGD1_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2274+19G>C r.(=) p.(=) g.54475557C>G Copied from the Exome Variant Server FGD1_000026 2/10563 1/6728 1/3835 - - - - - - -
?/? c.2274+21del r.(=) p.(=) g.54475555del Copied from the Exome Variant Server FGD1_000024 21/10205 17/6484 4/3721 - - - - - - -
?/? c.2274+33A>C r.(=) p.(=) g.54475543T>G Copied from the Exome Variant Server FGD1_000022 3/10563 0/6728 3/3835 - - - - - - -
?/? c.2274+44T>C r.(=) p.(=) g.54475532A>G Copied from the Exome Variant Server FGD1_000020 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2275-38G>A r.(=) p.(=) g.54475438C>T Copied from the Exome Variant Server FGD1_000037 2/10562 0/6727 2/3835 - - - - - - -
?/? c.2275-30C>G r.(=) p.(=) g.54475430G>C Copied from the Exome Variant Server FGD1_000035 1/10559 1/6726 0/3833 - - - - - - -
?/? c.2275-6C>A r.(=) p.(=) g.54475406G>T Copied from the Exome Variant Server FGD1_000033 4/10558 0/6725 4/3833 - - - - - - -
?/? c.2289G>A r.(=) p.(=) g.54475386C>T Copied from the Exome Variant Server FGD1_000031 4/10561 4/6726 0/3835 - - - - - - -
?/? c.2314G>A r.(?) p.(Val772Ile) g.54475361C>T Copied from the Exome Variant Server FGD1_000029 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2436+37G>T r.(=) p.(=) g.54475202C>A Copied from the Exome Variant Server FGD1_000027 6/10562 0/6727 6/3835 - - - - - - -
?/? c.2436+48C>G r.(=) p.(=) g.54475191G>C Copied from the Exome Variant Server FGD1_000025 1/10562 1/6727 0/3835 - - - - - - -
?/? c.2437-26T>A r.(=) p.(=) g.54473913A>T Copied from the Exome Variant Server FGD1_000023 1/10562 1/6727 0/3835 - - - - - - -
?/? c.2437-15T>C r.(=) p.(=) g.54473902A>G Copied from the Exome Variant Server FGD1_000021 1/10562 1/6727 0/3835 - - - - - - -
?/? c.2466C>T r.(=) p.(=) g.54473858G>A Copied from the Exome Variant Server FGD1_000019 1/10562 1/6727 0/3835 - - - - - - -
?/? c.2520G>A r.(=) p.(=) g.54473804C>T Copied from the Exome Variant Server FGD1_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2533G>A r.(?) p.(Val845Ile) g.54473791C>T Copied from the Exome Variant Server FGD1_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2568C>T r.(=) p.(=) g.54473756G>A Copied from the Exome Variant Server FGD1_000016 15/10563 1/6728 14/3835 - - - - - - -
?/? c.2580+35C>G r.(=) p.(=) g.54473709G>C Copied from the Exome Variant Server FGD1_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2581-42C>T r.(=) p.(=) g.54472889G>A Copied from the Exome Variant Server FGD1_000014 2/10520 0/6701 2/3819 - - - - - - -
?/? c.2581-21C>T r.(=) p.(=) g.54472868G>A Copied from the Exome Variant Server FGD1_000013 2/10558 2/6723 0/3835 - - - - - - -
?/? c.2581-6C>T r.(=) p.(=) g.54472853G>A Copied from the Exome Variant Server FGD1_000012 4/10562 4/6727 0/3835 - - - - - - -
?/? c.2619C>T r.(=) p.(=) g.54472809G>A Copied from the Exome Variant Server FGD1_000011 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2625G>A r.(=) p.(=) g.54472803C>T Copied from the Exome Variant Server FGD1_000010 1/10563 0/6728 1/3835 - - - - - - -
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