Full data view for gene ABCF2

Information The variants shown are described using the NM_005692.3 transcript reference sequence.

131 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.-17C>T r.(=) p.(=) g.150923561G>A Copied from the Exome Variant Server ABCF2_000131 15/13006 15/8600 0/4406 - - - - - - -
?/? c.9C>A r.(=) p.(=) g.150923536G>T Copied from the Exome Variant Server ABCF2_000130 2/13006 2/8600 0/4406 - - - - - - -
?/? c.12C>T r.(=) p.(=) g.150923533G>A Copied from the Exome Variant Server ABCF2_000129 25/13006 24/8600 1/4406 - - - - - - -
?/? c.13C>T r.(=) p.(=) g.150923532G>A Copied from the Exome Variant Server ABCF2_000128 2/13006 2/8600 0/4406 - - - - - - -
?/? c.154+45A>G r.(=) p.(=) g.150923346T>C Copied from the Exome Variant Server ABCF2_000127 1/13006 1/8600 0/4406 - - - - - - -
?/? c.154+46T>C r.(=) p.(=) g.150923345A>G Copied from the Exome Variant Server ABCF2_000126 1/13006 0/8600 1/4406 - - - - - - -
?/? c.154+52C>T r.(=) p.(=) g.150923339G>A Copied from the Exome Variant Server ABCF2_000125 1/5734 1/3982 0/1752 - - - - - - -
?/? c.155-46C>G r.(=) p.(=) g.150922120G>C Copied from the Exome Variant Server ABCF2_000124 15/13006 15/8600 0/4406 - - - - - - -
?/? c.155-37C>T r.(=) p.(=) g.150922111G>A Copied from the Exome Variant Server ABCF2_000123 1/13006 0/8600 1/4406 - - - - - - -
?/? c.155-27C>T r.(=) p.(=) g.150922101G>A Copied from the Exome Variant Server ABCF2_000121 254/13006 9/8600 245/4406 - - - - - - -
?/? c.155-4G>A r.spl? p.? g.150922078C>T Copied from the Exome Variant Server ABCF2_000119 1/13006 0/8600 1/4406 - - - - - - -
?/? c.159A>G r.(=) p.(=) g.150922070T>C Copied from the Exome Variant Server ABCF2_000117 1/13006 0/8600 1/4406 - - - - - - -
?/? c.186C>T r.(=) p.(=) g.150922043G>A Copied from the Exome Variant Server ABCF2_000115 2/13006 0/8600 2/4406 - - - - - - -
?/? c.245A>G r.(?) p.(Asn82Ser) g.150921984T>C Copied from the Exome Variant Server ABCF2_000122 1/13006 0/8600 1/4406 - - - - - - -
?/? c.279T>C r.(=) p.(=) g.150921950A>G Copied from the Exome Variant Server ABCF2_000120 9244/13006 5885/8600 3359/4406 - - - - - - -
?/? c.335G>A r.(?) p.(Arg112His) g.150921894C>T Copied from the Exome Variant Server ABCF2_000118 2/13006 1/8600 1/4406 - - - - - - -
?/? c.338G>A r.(?) p.(Arg113His) g.150921891C>T Copied from the Exome Variant Server ABCF2_000116 1/13006 0/8600 1/4406 - - - - - - -
?/? c.368-47G>T r.(=) p.(=) g.150921247C>A Copied from the Exome Variant Server ABCF2_000114 1/13006 0/8600 1/4406 - - - - - - -
?/? c.368-39A>G r.(=) p.(=) g.150921239T>C Copied from the Exome Variant Server ABCF2_000113 1/13006 0/8600 1/4406 - - - - - - -
?/? c.389C>T r.(?) p.(Ala130Val) g.150921179G>A Copied from the Exome Variant Server ABCF2_000112 1/13006 1/8600 0/4406 - - - - - - -
?/? c.391A>G r.(?) p.(Ile131Val) g.150921177T>C Copied from the Exome Variant Server ABCF2_000111 2/13006 2/8600 0/4406 - - - - - - -
?/? c.409C>G r.(?) p.(Pro137Ala) g.150921159G>C Copied from the Exome Variant Server ABCF2_000110 1/13006 0/8600 1/4406 - - - - - - -
?/? c.426C>T r.(=) p.(=) g.150921142G>A Copied from the Exome Variant Server ABCF2_000109 1/13006 1/8600 0/4406 - - - - - - -
?/? c.532C>T r.(?) p.(Arg178Trp) g.150921036G>A Copied from the Exome Variant Server ABCF2_000108 1/13006 1/8600 0/4406 - - - - - - -
?/? c.533G>A r.(?) p.(Arg178Gln) g.150921035C>T Copied from the Exome Variant Server ABCF2_000107 1/13006 0/8600 1/4406 - - - - - - -
?/? c.550+11A>G r.(=) p.(=) g.150921007T>C Copied from the Exome Variant Server ABCF2_000106 1/13006 1/8600 0/4406 - - - - - - -
?/? c.551-36G>T r.(=) p.(=) g.150920971C>A Copied from the Exome Variant Server ABCF2_000105 1/13006 1/8600 0/4406 - - - - - - -
?/? c.551-35C>T r.(=) p.(=) g.150920970G>A Copied from the Exome Variant Server ABCF2_000104 1/13006 1/8600 0/4406 - - - - - - -
?/? c.551C>T r.(?) p.(Ala184Val) g.150920935G>A Copied from the Exome Variant Server ABCF2_000103 1/13006 1/8600 0/4406 - - - - - - -
?/? c.564G>A r.(=) p.(=) g.150920922C>T Copied from the Exome Variant Server ABCF2_000102 1/13006 0/8600 1/4406 - - - - - - -
?/? c.567C>T r.(=) p.(=) g.150920919G>A Copied from the Exome Variant Server ABCF2_000101 163/13006 1/8600 162/4406 - - - - - - -
?/? c.595C>T r.(=) p.(=) g.150920891G>A Copied from the Exome Variant Server ABCF2_000100 259/13006 238/8600 21/4406 - - - - - - -
?/? c.603C>T r.(=) p.(=) g.150920883G>A Copied from the Exome Variant Server ABCF2_000099 1/13006 0/8600 1/4406 - - - - - - -
?/? c.617T>C r.(?) p.(Met206Thr) g.150920869A>G Copied from the Exome Variant Server ABCF2_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.628C>T r.(?) p.(Arg210Trp) g.150920858G>A Copied from the Exome Variant Server ABCF2_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.651C>T r.(=) p.(=) g.150920835G>A Copied from the Exome Variant Server ABCF2_000096 4/13006 4/8600 0/4406 - - - - - - -
?/? c.667C>T r.(?) p.(Arg223Cys) g.150920819G>A Copied from the Exome Variant Server ABCF2_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.668G>T r.(?) p.(Arg223Leu) g.150920818C>A Copied from the Exome Variant Server ABCF2_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.671A>T r.(?) p.(Lys224Met) g.150920815T>A Copied from the Exome Variant Server ABCF2_000093 294/13006 2/8600 292/4406 - - - - - - -
?/? c.722+18T>C r.(=) p.(=) g.150920746A>G Copied from the Exome Variant Server ABCF2_000092 63/13006 6/8600 57/4406 - - - - - - -
?/? c.722+29A>G r.(=) p.(=) g.150920735T>C Copied from the Exome Variant Server ABCF2_000091 1/13000 1/8598 0/4402 - - - - - - -
?/? c.723-47A>G r.(=) p.(=) g.150919749T>C Copied from the Exome Variant Server ABCF2_000090 1/13006 0/8600 1/4406 - - - - - - -
?/? c.723-27G>A r.(=) p.(=) g.150919729C>T Copied from the Exome Variant Server ABCF2_000089 3/13006 3/8600 0/4406 - - - - - - -
?/? c.723-26C>T r.(=) p.(=) g.150919728G>A Copied from the Exome Variant Server ABCF2_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.723-5T>C r.spl? p.? g.150919707A>G Copied from the Exome Variant Server ABCF2_000087 323/13006 5/8600 318/4406 - - - - - - -
?/? c.723-4del r.spl? p.? g.150919706del Copied from the Exome Variant Server ABCF2_000086 6/12518 1/8254 5/4264 - - - - - - -
?/? c.733A>T r.(?) p.(Ile245Phe) g.150919692T>A Copied from the Exome Variant Server ABCF2_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.745A>G r.(?) p.(Met249Val) g.150919680T>C Copied from the Exome Variant Server ABCF2_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.818+19G>C r.(=) p.(=) g.150919588C>G Copied from the Exome Variant Server ABCF2_000083 2/13006 0/8600 2/4406 - - - - - - -
?/? c.819-18G>C r.(=) p.(=) g.150918784C>G Copied from the Exome Variant Server ABCF2_000082 49/13006 0/8600 49/4406 - - - - - - -
?/? c.819-3C>T r.spl? p.? g.150918769G>A Copied from the Exome Variant Server ABCF2_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.838C>G r.(?) p.(Leu280Val) g.150918747G>C Copied from the Exome Variant Server ABCF2_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.879C>T r.(=) p.(=) g.150918706G>A Copied from the Exome Variant Server ABCF2_000079 2/13006 0/8600 2/4406 - - - - - - -
?/? c.921+18T>G r.(=) p.(=) g.150918646A>C Copied from the Exome Variant Server ABCF2_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.921+31T>C r.(=) p.(=) g.150918633A>G Copied from the Exome Variant Server ABCF2_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.921+43A>T r.(=) p.(=) g.150918621T>A Copied from the Exome Variant Server ABCF2_000076 2/13006 2/8600 0/4406 - - - - - - -
?/? c.921+45T>G r.(=) p.(=) g.150918619A>C Copied from the Exome Variant Server ABCF2_000075 138/13006 0/8600 138/4406 - - - - - - -
?/? c.921+47C>A r.(=) p.(=) g.150918617G>T Copied from the Exome Variant Server ABCF2_000074 16/13006 14/8600 2/4406 - - - - - - -
?/? c.922-13C>A r.(=) p.(=) g.150916258G>T Copied from the Exome Variant Server ABCF2_000073 2/13006 0/8600 2/4406 - - - - - - -
?/? c.922-11T>C r.(=) p.(=) g.150916256A>G Copied from the Exome Variant Server ABCF2_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.925A>G r.(?) p.(Asn309Asp) g.150916242T>C Copied from the Exome Variant Server ABCF2_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.939C>T r.(=) p.(=) g.150916228G>A Copied from the Exome Variant Server ABCF2_000067 4529/13006 3537/8600 992/4406 - - - - - - -
?/? c.950G>A r.(?) p.(Arg317Gln) g.150916217C>T Copied from the Exome Variant Server ABCF2_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1008A>T r.(=) p.(=) g.150916159T>A Copied from the Exome Variant Server ABCF2_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1017+33_1017+35del r.(=) p.(=) g.150916115_150916117del Copied from the Exome Variant Server ABCF2_000070 4706/12518 3392/8254 1314/4264 - - - - - - -
?/? c.1018-39C>T r.(=) p.(=) g.150915998G>A Copied from the Exome Variant Server ABCF2_000068 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1018-20C>T r.(=) p.(=) g.150915979G>A Copied from the Exome Variant Server ABCF2_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1018-14_1018-13del r.(=) p.(=) g.150915972_150915973del Copied from the Exome Variant Server ABCF2_000064 2/12514 0/8254 2/4260 - - - - - - -
?/? c.1029G>A r.(=) p.(=) g.150915948C>T Copied from the Exome Variant Server ABCF2_000063 1240/13006 983/8600 257/4406 - - - - - - -
?/? c.1085C>T r.(?) p.(Thr362Met) g.150915892G>A Copied from the Exome Variant Server ABCF2_000062 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1086G>A r.(=) p.(=) g.150915891C>T Copied from the Exome Variant Server ABCF2_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1098G>A r.(?) p.(Met366Ile) g.150915879C>T Copied from the Exome Variant Server ABCF2_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1125C>T r.(=) p.(=) g.150915852G>A Copied from the Exome Variant Server ABCF2_000059 10/13006 0/8600 10/4406 - - - - - - -
?/? c.1137+23G>A r.(=) p.(=) g.150915817C>T Copied from the Exome Variant Server ABCF2_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1137+29G>A r.(=) p.(=) g.150915811C>T Copied from the Exome Variant Server ABCF2_000057 6/13006 6/8600 0/4406 - - - - - - -
?/? c.1137+35G>A r.(=) p.(=) g.150915805C>T Copied from the Exome Variant Server ABCF2_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1137+23_1137+37del r.(=) p.(=) g.150915803_150915817del Copied from the Exome Variant Server ABCF2_000055 16/12518 11/8254 5/4264 - - - - - - -
?/? c.1138-18G>C r.(=) p.(=) g.150915754C>G Copied from the Exome Variant Server ABCF2_000054 197/13006 182/8600 15/4406 - - - - - - -
?/? c.1138-4C>T r.spl? p.? g.150915740G>A Copied from the Exome Variant Server ABCF2_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1190T>C r.(?) p.(Met397Thr) g.150915684A>G Copied from the Exome Variant Server ABCF2_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1227+27C>G r.(=) p.(=) g.150915620G>C Copied from the Exome Variant Server ABCF2_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1227+43G>A r.(=) p.(=) g.150915604C>T Copied from the Exome Variant Server ABCF2_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1228-16C>G r.(=) p.(=) g.150915293G>C Copied from the Exome Variant Server ABCF2_000049 19/13006 19/8600 0/4406 - - - - - - -
?/? c.1269C>T r.(=) p.(=) g.150915236G>A Copied from the Exome Variant Server ABCF2_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1293C>T r.(=) p.(=) g.150915212G>A Copied from the Exome Variant Server ABCF2_000047 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1338+20G>C r.(=) p.(=) g.150915147C>G Copied from the Exome Variant Server ABCF2_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1339-39_1339-36del r.(=) p.(=) g.150913151_150913154del Copied from the Exome Variant Server ABCF2_000045 366/12518 10/8254 356/4264 - - - - - - -
?/? c.1339-22G>A r.(=) p.(=) g.150913137C>T Copied from the Exome Variant Server ABCF2_000044 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1339-17T>C r.(=) p.(=) g.150913132A>G Copied from the Exome Variant Server ABCF2_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1391G>A r.(?) p.(Arg464His) g.150913063C>T Copied from the Exome Variant Server ABCF2_000042 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1401+19del r.(=) p.(=) g.150913034del Copied from the Exome Variant Server ABCF2_000041 14/12518 1/8254 13/4264 - - - - - - -
?/? c.1401+39G>A r.(=) p.(=) g.150913014C>T Copied from the Exome Variant Server ABCF2_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1402-27C>G r.(=) p.(=) g.150912845G>C Copied from the Exome Variant Server ABCF2_000039 15/13006 0/8600 15/4406 - - - - - - -
?/? c.1402-4G>A r.spl? p.? g.150912822C>T Copied from the Exome Variant Server ABCF2_000038 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1402-4_1402-3del r.spl? p.? g.150912821_150912822del Copied from the Exome Variant Server ABCF2_000037 2/12510 0/8248 2/4262 - - - - - - -
?/? c.1434A>G r.(=) p.(=) g.150912786T>C Copied from the Exome Variant Server ABCF2_000036 1475/13006 835/8600 640/4406 - - - - - - -
?/? c.1470C>A r.(=) p.(=) g.150912750G>T Copied from the Exome Variant Server ABCF2_000035 976/13006 822/8600 154/4406 - - - - - - -
?/? c.1484A>C r.(?) p.(Glu495Ala) g.150912736T>G Copied from the Exome Variant Server ABCF2_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1498A>G r.(?) p.(Ile500Val) g.150912722T>C Copied from the Exome Variant Server ABCF2_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1499T>C r.(?) p.(Ile500Thr) g.150912721A>G Copied from the Exome Variant Server ABCF2_000032 1/13006 1/8600 0/4406 - - - - - - -
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