All transcript variants in gene XAF1

Information The variants shown are described using the NM_017523.2 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-74A>G r.(=) p.(=) g.6659324A>G Copied from the Exome Variant Server XAF1_000001 2450/4566 1400/3182 1050/1384
?/? c.-70G>T r.(=) p.(=) g.6659328G>T Copied from the Exome Variant Server XAF1_000002 15/4566 1/3182 14/1384
?/? c.-69A>T r.(=) p.(=) g.6659329A>T Copied from the Exome Variant Server XAF1_000003 14/4566 1/3182 13/1384
?/? c.-44C>A r.(=) p.(=) g.6659354C>A Copied from the Exome Variant Server XAF1_000004 1/13006 1/8600 0/4406
?/? c.-33G>A r.(=) p.(=) g.6659365G>A Copied from the Exome Variant Server XAF1_000005 7/13006 4/8600 3/4406
?/? c.-14G>T r.(=) p.(=) g.6659384G>T Copied from the Exome Variant Server XAF1_000006 187/13006 0/8600 187/4406
?/? c.32+2T>C r.spl? p.? g.6659431T>C Copied from the Exome Variant Server XAF1_000007 1/13006 1/8600 0/4406
?/? c.32+6A>T r.(=) p.(=) g.6659435A>T Copied from the Exome Variant Server XAF1_000008 1/13006 1/8600 0/4406
?/? c.32+31C>T r.(=) p.(=) g.6659460C>T Copied from the Exome Variant Server XAF1_000009 1/13006 1/8600 0/4406
?/? c.32+32G>A r.(=) p.(=) g.6659461G>A Copied from the Exome Variant Server XAF1_000010 2/13006 0/8600 2/4406
?/? c.32+43G>C r.(=) p.(=) g.6659472G>C Copied from the Exome Variant Server XAF1_000011 5/13006 4/8600 1/4406
?/? c.32+50C>T r.(=) p.(=) g.6659479C>T Copied from the Exome Variant Server XAF1_000012 1/13006 1/8600 0/4406
?/? c.32+56C>T r.(=) p.(=) g.6659485C>T Copied from the Exome Variant Server XAF1_000013 1/4566 0/3182 1/1384
?/? c.32+61T>C r.(=) p.(=) g.6659490T>C Copied from the Exome Variant Server XAF1_000014 59/4566 0/3182 59/1384
?/? c.33-51T>C r.(=) p.(=) g.6661357T>C Copied from the Exome Variant Server XAF1_000015 4/13006 0/8600 4/4406
?/? c.33-35G>A r.(=) p.(=) g.6661373G>A Copied from the Exome Variant Server XAF1_000016 1/13006 0/8600 1/4406
?/? c.33-32T>C r.(=) p.(=) g.6661376T>C Copied from the Exome Variant Server XAF1_000017 1/13006 1/8600 0/4406
?/? c.35A>G r.(?) p.(Lys12Arg) g.6661410A>G Copied from the Exome Variant Server XAF1_000018 4/13006 4/8600 0/4406
?/? c.67C>T r.(?) p.(His23Tyr) g.6661442C>T Copied from the Exome Variant Server XAF1_000019 2/13006 0/8600 2/4406
?/? c.150C>T r.(=) p.(=) g.6661525C>T Copied from the Exome Variant Server XAF1_000020 1/13006 1/8600 0/4406
?/? c.168+10C>T r.(=) p.(=) g.6661553C>T Copied from the Exome Variant Server XAF1_000021 1/13006 1/8600 0/4406
?/? c.168+11G>A r.(=) p.(=) g.6661554G>A Copied from the Exome Variant Server XAF1_000022 8/13006 0/8600 8/4406
?/? c.168+41T>C r.(=) p.(=) g.6661584T>C Copied from the Exome Variant Server XAF1_000023 6482/13006 3115/8600 3367/4406
?/? c.168+42G>A r.(=) p.(=) g.6661585G>A Copied from the Exome Variant Server XAF1_000024 29/13006 1/8600 28/4406
?/? c.169-15T>C r.(=) p.(=) g.6662966T>C Copied from the Exome Variant Server XAF1_000025 3/13006 0/8600 3/4406
?/? c.206C>A r.(?) p.(Ser69Tyr) g.6663018C>A Copied from the Exome Variant Server XAF1_000026 56/13006 0/8600 56/4406
?/? c.210G>A r.(=) p.(=) g.6663022G>A Copied from the Exome Variant Server XAF1_000027 2/13006 2/8600 0/4406
?/? c.211C>A r.(?) p.(Leu71Met) g.6663023C>A Copied from the Exome Variant Server XAF1_000028 1/13006 1/8600 0/4406
?/? c.225+21C>T r.(=) p.(=) g.6663058C>T Copied from the Exome Variant Server XAF1_000029 1/13006 1/8600 0/4406
?/? c.225+34_225+37del r.(=) p.(=) g.6663071_6663074del Copied from the Exome Variant Server XAF1_000030 1/12518 1/8254 0/4264
?/? c.226-28A>G r.(=) p.(=) g.6663697A>G Copied from the Exome Variant Server XAF1_000031 52/13000 0/8598 52/4402
?/? c.226-6C>G r.(=) p.(=) g.6663719C>G Copied from the Exome Variant Server XAF1_000032 8/13006 0/8600 8/4406
?/? c.226-3C>A r.spl? p.? g.6663722C>A Copied from the Exome Variant Server XAF1_000033 1/13006 1/8600 0/4406
?/? c.230A>G r.(?) p.(Asn77Ser) g.6663729A>G Copied from the Exome Variant Server XAF1_000034 87/13006 0/8600 87/4406
?/? c.238C>G r.(?) p.(Gln80Glu) g.6663737C>G Copied from the Exome Variant Server XAF1_000035 1/13006 0/8600 1/4406
?/? c.254A>G r.(?) p.(Glu85Gly) g.6663753A>G Copied from the Exome Variant Server XAF1_000036 788/13006 24/8600 764/4406
?/? c.256T>C r.(?) p.(Cys86Arg) g.6663755T>C Copied from the Exome Variant Server XAF1_000037 1/13006 1/8600 0/4406
?/? c.309C>T r.(=) p.(=) g.6663808C>T Copied from the Exome Variant Server XAF1_000038 140/13006 4/8600 136/4406
?/? c.314G>T r.(?) p.(Cys105Phe) g.6663813G>T Copied from the Exome Variant Server XAF1_000039 2/13006 0/8600 2/4406
?/? c.323G>A r.(?) p.(Arg108Gln) g.6663822G>A Copied from the Exome Variant Server XAF1_000040 12/13006 0/8600 12/4406
?/? c.364C>T r.(?) p.(Arg122Cys) g.6663863C>T Copied from the Exome Variant Server XAF1_000041 1/13006 0/8600 1/4406
?/? c.368T>C r.(?) p.(Met123Thr) g.6663867T>C Copied from the Exome Variant Server XAF1_000042 143/13006 2/8600 141/4406
?/? c.373G>A r.(?) p.(Ala125Thr) g.6663872G>A Copied from the Exome Variant Server XAF1_000043 1/13006 1/8600 0/4406
?/? c.396C>G r.(=) p.(=) g.6663895C>G Copied from the Exome Variant Server XAF1_000044 5331/13006 2637/8600 2694/4406
?/? c.398G>C r.(?) p.(Ser133Thr) g.6663897G>C Copied from the Exome Variant Server XAF1_000045 2/13006 0/8600 2/4406
?/? c.400G>T r.(?) p.(Glu134*) g.6663899G>T Copied from the Exome Variant Server XAF1_000046 54/13006 48/8600 6/4406
?/? c.415G>A r.(?) p.(Gly139Arg) g.6663914G>A Copied from the Exome Variant Server XAF1_000047 48/13006 0/8600 48/4406
?/? c.422-38G>C r.(=) p.(=) g.6665436G>C Copied from the Exome Variant Server XAF1_000049 1/13006 1/8600 0/4406
?/? c.422-31C>A r.(=) p.(=) g.6665443C>A Copied from the Exome Variant Server XAF1_000048 2/13006 0/8600 2/4406
?/? c.422-20T>C r.(=) p.(=) g.6665454T>C Copied from the Exome Variant Server XAF1_000050 2/13006 2/8600 0/4406
?/? c.422-19T>A r.(=) p.(=) g.6665455T>A Copied from the Exome Variant Server XAF1_000051 11/13006 0/8600 11/4406
?/? c.435A>G r.(=) p.(=) g.6665487A>G Copied from the Exome Variant Server XAF1_000052 69/13006 0/8600 69/4406
?/? c.446G>A r.(?) p.(Arg149Lys) g.6665498G>A Copied from the Exome Variant Server XAF1_000053 2/13006 2/8600 0/4406
?/? c.457T>C r.(?) p.(Cys153Arg) g.6665509T>C Copied from the Exome Variant Server XAF1_000054 4/13006 0/8600 4/4406
?/? c.502C>T r.(?) p.(His168Tyr) g.6665554C>T Copied from the Exome Variant Server XAF1_000055 1/13006 1/8600 0/4406
?/? c.507+1G>A r.spl? p.? g.6665560G>A Copied from the Exome Variant Server XAF1_000056 1/13006 0/8600 1/4406
?/? c.507+9C>T r.(=) p.(=) g.6665568C>T Copied from the Exome Variant Server XAF1_000057 1/13006 0/8600 1/4406
?/? c.507+12T>C r.(=) p.(=) g.6665571T>C Copied from the Exome Variant Server XAF1_000058 1/13006 0/8600 1/4406
?/? c.518G>A r.(?) p.(Cys173Tyr) g.6673972G>A Copied from the Exome Variant Server XAF1_000059 1/13006 1/8600 0/4406
?/? c.538A>G r.(?) p.(Lys180Glu) g.6673992A>G Copied from the Exome Variant Server XAF1_000060 1/13006 0/8600 1/4406
?/? c.541C>T r.(?) p.(His181Tyr) g.6673995C>T Copied from the Exome Variant Server XAF1_000061 1/13006 0/8600 1/4406
?/? c.562G>A r.(?) p.(Glu188Lys) g.6674016G>A Copied from the Exome Variant Server XAF1_000062 239/13006 1/8600 238/4406
?/? c.606A>G r.(=) p.(=) g.6674060A>G Copied from the Exome Variant Server XAF1_000063 2/13006 0/8600 2/4406
?/? c.614C>T r.(?) p.(Thr205Met) g.6674068C>T Copied from the Exome Variant Server XAF1_000064 1/13006 0/8600 1/4406
?/? c.615G>A r.(=) p.(=) g.6674069G>A Copied from the Exome Variant Server XAF1_000065 2/13006 2/8600 0/4406
?/? c.640A>T r.(?) p.(Thr214Ser) g.6674094A>T Copied from the Exome Variant Server XAF1_000066 1/13006 0/8600 1/4406
?/? c.733T>C r.(?) p.(Ser245Pro) g.6674187T>C Copied from the Exome Variant Server XAF1_000067 1/13006 1/8600 0/4406
?/? c.762T>C r.(=) p.(=) g.6674216T>C Copied from the Exome Variant Server XAF1_000068 156/13006 0/8600 156/4406
?/? c.763_764del r.(?) p.(Gly256Argfs*2) g.6674217_6674218del Copied from the Exome Variant Server XAF1_000069 73/12518 50/8254 23/4264
?/? c.787A>C r.(?) p.(Ile263Leu) g.6674241A>C Copied from the Exome Variant Server XAF1_000070 1/13006 1/8600 0/4406
?/? c.792G>A r.(=) p.(=) g.6674246G>A Copied from the Exome Variant Server XAF1_000071 1/13006 0/8600 1/4406
?/? c.847C>T r.(?) p.(Gln283*) g.6674301C>T Copied from the Exome Variant Server XAF1_000072 1/13006 0/8600 1/4406
?/? c.849+6C>G r.(=) p.(=) g.6674309C>G Copied from the Exome Variant Server XAF1_000073 1/13006 1/8600 0/4406
?/? c.849+17C>T r.(=) p.(=) g.6674320C>T Copied from the Exome Variant Server XAF1_000074 249/13006 1/8600 248/4406
?/? c.850-30T>C r.(=) p.(=) g.6676402T>C Copied from the Exome Variant Server XAF1_000075 1/13006 0/8600 1/4406
?/? c.850-24A>G r.(=) p.(=) g.6676408A>G Copied from the Exome Variant Server XAF1_000076 86/13006 0/8600 86/4406
?/? c.860G>A r.(?) p.(Arg287Gln) g.6676442G>A Copied from the Exome Variant Server XAF1_000077 7/13006 2/8600 5/4406
?/? c.887A>G r.(?) p.(Gln296Arg) g.6676469A>G Copied from the Exome Variant Server XAF1_000078 1/13006 1/8600 0/4406
?/? c.*50C>G r.(=) p.(=) g.6676538C>G Copied from the Exome Variant Server XAF1_000079 1/13006 0/8600 1/4406
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