Full data view for gene AATF

Information The variants shown are described using the NM_012138.3 transcript reference sequence.

129 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.-18G>C r.(=) p.(=) g.35306408G>C Copied from the Exome Variant Server AATF_000001 1/12814 0/8504 1/4310 - - - - - - -
?/? c.-15C>T r.(=) p.(=) g.35306411C>T Copied from the Exome Variant Server AATF_000002 3/12824 1/8512 2/4312 - - - - - - -
?/? c.31C>T r.(=) p.(=) g.35306456C>T Copied from the Exome Variant Server AATF_000003 7/12884 0/8534 7/4350 - - - - - - -
?/? c.126A>G r.(=) p.(=) g.35307548A>G Copied from the Exome Variant Server AATF_000004 2/13006 2/8600 0/4406 - - - - - - -
?/? c.130G>A r.(?) p.(Glu44Lys) g.35307552G>A Copied from the Exome Variant Server AATF_000005 2/13006 0/8600 2/4406 - - - - - - -
?/? c.137G>A r.(?) p.(Gly46Glu) g.35307559G>A Copied from the Exome Variant Server AATF_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.169A>G r.(?) p.(Arg57Gly) g.35307591A>G Copied from the Exome Variant Server AATF_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.194T>G r.(?) p.(Leu65Trp) g.35307616T>G Copied from the Exome Variant Server AATF_000008 2/13006 0/8600 2/4406 - - - - - - -
?/? c.204C>T r.(=) p.(=) g.35307626C>T Copied from the Exome Variant Server AATF_000009 7/13006 0/8600 7/4406 - - - - - - -
?/? c.237A>G r.(=) p.(=) g.35307659A>G Copied from the Exome Variant Server AATF_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.246T>C r.(=) p.(=) g.35307668T>C Copied from the Exome Variant Server AATF_000011 2/13006 0/8600 2/4406 - - - - - - -
?/? c.250G>A r.(?) p.(Asp84Asn) g.35307672G>A Copied from the Exome Variant Server AATF_000012 22/13006 0/8600 22/4406 - - - - - - -
?/? c.253C>T r.(?) p.(His85Tyr) g.35307675C>T Copied from the Exome Variant Server AATF_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.263A>G r.(?) p.(Gln88Arg) g.35307685A>G Copied from the Exome Variant Server AATF_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.271C>A r.(?) p.(Pro91Thr) g.35307693C>A Copied from the Exome Variant Server AATF_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.283+25_283+29del r.(=) p.(=) g.35307730_35307734del Copied from the Exome Variant Server AATF_000016 2/12518 0/8254 2/4264 - - - - - - -
?/? c.284A>G r.(?) p.(Asp95Gly) g.35310186A>G Copied from the Exome Variant Server AATF_000017 7/13006 0/8600 7/4406 - - - - - - -
?/? c.293T>C r.(?) p.(Ile98Thr) g.35310195T>C Copied from the Exome Variant Server AATF_000018 160/13006 0/8600 160/4406 - - - - - - -
?/? c.332G>A r.(?) p.(Gly111Glu) g.35310234G>A Copied from the Exome Variant Server AATF_000019 11/13006 11/8600 0/4406 - - - - - - -
?/? c.360C>T r.(=) p.(=) g.35310262C>T Copied from the Exome Variant Server AATF_000020 2/13006 1/8600 1/4406 - - - - - - -
?/? c.361G>A r.(?) p.(Asp121Asn) g.35310263G>A Copied from the Exome Variant Server AATF_000021 4/13006 4/8600 0/4406 - - - - - - -
?/? c.420A>G r.(=) p.(=) g.35310322A>G Copied from the Exome Variant Server AATF_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.440C>T r.(?) p.(Pro147Leu) g.35310342C>T Copied from the Exome Variant Server AATF_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.441G>A r.(=) p.(=) g.35310343G>A Copied from the Exome Variant Server AATF_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.490A>G r.(?) p.(Met164Val) g.35310392A>G Copied from the Exome Variant Server AATF_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.520G>A r.(?) p.(Glu174Lys) g.35310422G>A Copied from the Exome Variant Server AATF_000026 158/13006 6/8600 152/4406 - - - - - - -
?/? c.533G>A r.(?) p.(Ser178Asn) g.35310435G>A Copied from the Exome Variant Server AATF_000027 4/13006 4/8600 0/4406 - - - - - - -
?/? c.538A>G r.(?) p.(Met180Val) g.35310440A>G Copied from the Exome Variant Server AATF_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.555C>T r.(=) p.(=) g.35310457C>T Copied from the Exome Variant Server AATF_000029 15/13006 12/8600 3/4406 - - - - - - -
?/? c.557C>T r.(?) p.(Ala186Val) g.35310459C>T Copied from the Exome Variant Server AATF_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.558G>A r.(=) p.(=) g.35310460G>A Copied from the Exome Variant Server AATF_000031 2/13006 1/8600 1/4406 - - - - - - -
?/? c.568C>T r.(?) p.(Gln190*) g.35310470C>T Copied from the Exome Variant Server AATF_000032 2/13006 2/8600 0/4406 - - - - - - -
?/? c.588C>T r.(=) p.(=) g.35310490C>T Copied from the Exome Variant Server AATF_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.655G>T r.(?) p.(Glu219*) g.35310557G>T Copied from the Exome Variant Server AATF_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.664G>A r.(?) p.(Glu222Lys) g.35310566G>A Copied from the Exome Variant Server AATF_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.694+23T>G r.(=) p.(=) g.35310619T>G Copied from the Exome Variant Server AATF_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.694+35A>C r.(=) p.(=) g.35310631A>C Copied from the Exome Variant Server AATF_000037 1770/13006 310/8600 1460/4406 - - - - - - -
?/? c.694+48T>G r.(=) p.(=) g.35310644T>G Copied from the Exome Variant Server AATF_000038 229/13006 210/8600 19/4406 - - - - - - -
?/? c.699G>T r.(=) p.(=) g.35311074G>T Copied from the Exome Variant Server AATF_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.728A>G r.(?) p.(Lys243Arg) g.35311103A>G Copied from the Exome Variant Server AATF_000040 2/13006 0/8600 2/4406 - - - - - - -
?/? c.739G>T r.(?) p.(Ala247Ser) g.35311114G>T Copied from the Exome Variant Server AATF_000041 32/13006 29/8600 3/4406 - - - - - - -
?/? c.832+7A>C r.(=) p.(=) g.35311214A>C Copied from the Exome Variant Server AATF_000042 2/13006 0/8600 2/4406 - - - - - - -
?/? c.832+9A>G r.(=) p.(=) g.35311216A>G Copied from the Exome Variant Server AATF_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.832+14T>C r.(=) p.(=) g.35311221T>C Copied from the Exome Variant Server AATF_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.832+30T>C r.(=) p.(=) g.35311237T>C Copied from the Exome Variant Server AATF_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.832+39C>T r.(=) p.(=) g.35311246C>T Copied from the Exome Variant Server AATF_000046 34/13006 32/8600 2/4406 - - - - - - -
?/? c.832+49T>C r.(=) p.(=) g.35311256T>C Copied from the Exome Variant Server AATF_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.846T>C r.(=) p.(=) g.35343929T>C Copied from the Exome Variant Server AATF_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.923A>G r.(?) p.(Asp308Gly) g.35344006A>G Copied from the Exome Variant Server AATF_000049 39/13006 0/8600 39/4406 - - - - - - -
?/? c.947+7G>T r.(=) p.(=) g.35344037G>T Copied from the Exome Variant Server AATF_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.947+11A>G r.(=) p.(=) g.35344041A>G Copied from the Exome Variant Server AATF_000051 6/13006 0/8600 6/4406 - - - - - - -
?/? c.947+18T>C r.(=) p.(=) g.35344048T>C Copied from the Exome Variant Server AATF_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.947+46A>G r.(=) p.(=) g.35344076A>G Copied from the Exome Variant Server AATF_000053 2/13006 0/8600 2/4406 - - - - - - -
?/? c.976C>T r.(=) p.(=) g.35345846C>T Copied from the Exome Variant Server AATF_000054 18/13006 0/8600 18/4406 - - - - - - -
?/? c.991A>C r.(?) p.(Lys331Gln) g.35345861A>C Copied from the Exome Variant Server AATF_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1000C>T r.(?) p.(Arg334*) g.35345870C>T Copied from the Exome Variant Server AATF_000056 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1001G>A r.(?) p.(Arg334Gln) g.35345871G>A Copied from the Exome Variant Server AATF_000057 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1022G>A r.(?) p.(Arg341Lys) g.35345892G>A Copied from the Exome Variant Server AATF_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1039G>A r.(?) p.(Asp347Asn) g.35345909G>A Copied from the Exome Variant Server AATF_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1064G>A r.(?) p.(Arg355His) g.35345934G>A Copied from the Exome Variant Server AATF_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1110G>A r.(?) p.(Trp370*) g.35345980G>A Copied from the Exome Variant Server AATF_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1114G>A r.(?) p.(Asp372Asn) g.35345984G>A Copied from the Exome Variant Server AATF_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1126C>G r.(?) p.(Leu376Val) g.35345996C>G Copied from the Exome Variant Server AATF_000063 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1149+11G>A r.(=) p.(=) g.35346030G>A Copied from the Exome Variant Server AATF_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1149+18C>T r.(=) p.(=) g.35346037C>T Copied from the Exome Variant Server AATF_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1149+19G>A r.(=) p.(=) g.35346038G>A Copied from the Exome Variant Server AATF_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1149+41G>A r.(=) p.(=) g.35346060G>A Copied from the Exome Variant Server AATF_000067 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1150-47C>T r.(=) p.(=) g.35346499C>T Copied from the Exome Variant Server AATF_000068 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1150-10G>A r.(=) p.(=) g.35346536G>A Copied from the Exome Variant Server AATF_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1150-1G>A r.spl? p.? g.35346545G>A Copied from the Exome Variant Server AATF_000070 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1189G>A r.(?) p.(Asp397Asn) g.35346585G>A Copied from the Exome Variant Server AATF_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1195A>G r.(?) p.(Ile399Val) g.35346591A>G Copied from the Exome Variant Server AATF_000072 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1222C>T r.(?) p.(Arg408*) g.35346618C>T Copied from the Exome Variant Server AATF_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1223G>A r.(?) p.(Arg408Gln) g.35346619G>A Copied from the Exome Variant Server AATF_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1230A>T r.(=) p.(=) g.35346626A>T Copied from the Exome Variant Server AATF_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1245T>C r.(=) p.(=) g.35346641T>C Copied from the Exome Variant Server AATF_000076 3157/13006 2733/8600 424/4406 - - - - - - -
?/? c.1253G>C r.(?) p.(Arg418Pro) g.35346649G>C Copied from the Exome Variant Server AATF_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1288G>C r.(?) p.(Val430Leu) g.35346684G>C Copied from the Exome Variant Server AATF_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1313C>T r.(?) p.(Pro438Leu) g.35346709C>T Copied from the Exome Variant Server AATF_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1314+2T>G r.spl? p.? g.35346712T>G Copied from the Exome Variant Server AATF_000080 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1314+10C>T r.(=) p.(=) g.35346720C>T Copied from the Exome Variant Server AATF_000081 178/13004 2/8598 176/4406 - - - - - - -
?/? c.1314+44A>G r.(=) p.(=) g.35346754A>G Copied from the Exome Variant Server AATF_000082 1/12970 0/8592 1/4378 - - - - - - -
?/? c.1315-37T>C r.(=) p.(=) g.35348036T>C Copied from the Exome Variant Server AATF_000083 39/13006 0/8600 39/4406 - - - - - - -
?/? c.1315-34G>T r.(=) p.(=) g.35348039G>T Copied from the Exome Variant Server AATF_000084 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1315-13A>G r.(=) p.(=) g.35348060A>G Copied from the Exome Variant Server AATF_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1315-13_1315-12insT r.(=) p.(=) g.35348060_35348061insT Copied from the Exome Variant Server AATF_000086 2/12518 0/8254 2/4264 - - - - - - -
?/? c.1315-4A>G r.spl? p.? g.35348069A>G Copied from the Exome Variant Server AATF_000087 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1344T>C r.(=) p.(=) g.35348102T>C Copied from the Exome Variant Server AATF_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1361A>G r.(?) p.(Asp454Gly) g.35348119A>G Copied from the Exome Variant Server AATF_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1398+16T>A r.(=) p.(=) g.35348172T>A Copied from the Exome Variant Server AATF_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1398+20_1398+21del r.(=) p.(=) g.35348176_35348177del Copied from the Exome Variant Server AATF_000091 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1398+33T>C r.(=) p.(=) g.35348189T>C Copied from the Exome Variant Server AATF_000092 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1399-39A>G r.(=) p.(=) g.35376265A>G Copied from the Exome Variant Server AATF_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1399-23C>T r.(=) p.(=) g.35376281C>T Copied from the Exome Variant Server AATF_000094 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1399C>T r.(?) p.(Leu467Phe) g.35376304C>T Copied from the Exome Variant Server AATF_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1406G>A r.(?) p.(Arg469Gln) g.35376311G>A Copied from the Exome Variant Server AATF_000096 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1410A>G r.(=) p.(=) g.35376315A>G Copied from the Exome Variant Server AATF_000097 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1421del r.(?) p.(Lys475Argfs*31) g.35376326del Copied from the Exome Variant Server AATF_000098 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1446C>T r.(=) p.(=) g.35376351C>T Copied from the Exome Variant Server AATF_000099 379/13006 11/8600 368/4406 - - - - - - -
?/? c.1447G>A r.(?) p.(Asp483Asn) g.35376352G>A Copied from the Exome Variant Server AATF_000100 1/13006 0/8600 1/4406 - - - - - - -
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