Unique variants in gene PYROXD2

Information The variants shown are described using the NM_032709.2 transcript reference sequence.

190 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-44C>T r.(=) p.(=) g.100174936G>A Copied from the Exome Variant Server PYROXD2_000190 3/13006 1/8600 2/4406
1 c.-42C>A r.(=) p.(=) g.100174934G>T Copied from the Exome Variant Server PYROXD2_000189 7/13004 0/8600 7/4404
1 c.-13G>A r.(=) p.(=) g.100174905C>T Copied from the Exome Variant Server PYROXD2_000188 1/13006 0/8600 1/4406
1 c.17G>A r.(?) p.(Arg6Gln) g.100174876C>T Copied from the Exome Variant Server PYROXD2_000187 1/13006 0/8600 1/4406
1 c.30G>C r.(?) p.(Lys10Asn) g.100174863C>G Copied from the Exome Variant Server PYROXD2_000186 1/13006 0/8600 1/4406
1 c.39C>G r.(=) p.(=) g.100174854G>C Copied from the Exome Variant Server PYROXD2_000185 1/13006 1/8600 0/4406
1 c.52C>G r.(?) p.(Pro18Ala) g.100174841G>C Copied from the Exome Variant Server PYROXD2_000184 87/13006 79/8600 8/4406
1 c.57G>A r.(=) p.(=) g.100174836C>T Copied from the Exome Variant Server PYROXD2_000183 3/13006 2/8600 1/4406
1 c.64C>G r.(?) p.(Arg22Gly) g.100174829G>C Copied from the Exome Variant Server PYROXD2_000182 85/13006 1/8600 84/4406
1 c.64_68del r.(?) p.(Arg22*) g.100174825_100174829del Copied from the Exome Variant Server PYROXD2_000181 4/12510 2/8246 2/4264
1 c.74C>T r.(?) p.(Thr25Met) g.100174819G>A Copied from the Exome Variant Server PYROXD2_000180 85/13006 1/8600 84/4406
1 c.75G>A r.(=) p.(=) g.100174818C>T Copied from the Exome Variant Server PYROXD2_000179 1/13006 1/8600 0/4406
1 c.112G>A r.(?) p.(Val38Met) g.100174781C>T Copied from the Exome Variant Server PYROXD2_000178 1/13006 1/8600 0/4406
1 c.127+1G>A r.spl? p.? g.100174765C>T Copied from the Exome Variant Server PYROXD2_000177 8/13006 0/8600 8/4406
1 c.127+8_127+10del r.(=) p.(=) g.100174756_100174758del Copied from the Exome Variant Server PYROXD2_000176 38/12518 37/8254 1/4264
1 c.127+20C>G r.(=) p.(=) g.100174746G>C Copied from the Exome Variant Server PYROXD2_000175 1/13006 1/8600 0/4406
1 c.127+38C>A r.(=) p.(=) g.100174728G>T Copied from the Exome Variant Server PYROXD2_000174 5/13006 0/8600 5/4406
1 c.127+45A>G r.(=) p.(=) g.100174721T>C Copied from the Exome Variant Server PYROXD2_000173 4585/13006 2291/8600 2294/4406
1 c.128-89G>A r.(=) p.(=) g.100170804C>T Copied from the Exome Variant Server PYROXD2_000172 3/4566 1/3182 2/1384
1 c.128-83C>T r.(=) p.(=) g.100170798G>A Copied from the Exome Variant Server PYROXD2_000171 127/4566 4/3182 123/1384
1 c.128-59G>C r.(=) p.(=) g.100170774C>G Copied from the Exome Variant Server PYROXD2_000170 31/4566 0/3182 31/1384
1 c.128-47G>A r.(=) p.(=) g.100170762C>T Copied from the Exome Variant Server PYROXD2_000169 4338/12776 2172/8470 2166/4306
1 c.128-43G>T r.(=) p.(=) g.100170758C>A Copied from the Exome Variant Server PYROXD2_000168 1/12798 1/8482 0/4316
1 c.128-12G>A r.(=) p.(=) g.100170727C>T Copied from the Exome Variant Server PYROXD2_000167 65/12900 57/8534 8/4366
1 c.135C>T r.(=) p.(=) g.100170708G>A Copied from the Exome Variant Server PYROXD2_000166 45/12908 5/8544 40/4364
1 c.145G>A r.(?) p.(Ala49Thr) g.100170698C>T Copied from the Exome Variant Server PYROXD2_000165 1/12916 1/8548 0/4368
1 c.147+16C>T r.(=) p.(=) g.100170680G>A Copied from the Exome Variant Server PYROXD2_000164 1/12912 0/8542 1/4370
1 c.147+51C>G r.(=) p.(=) g.100170645G>C Copied from the Exome Variant Server PYROXD2_000163 12/12858 0/8504 12/4354
1 c.148-32G>A r.(=) p.(=) g.100167786C>T Copied from the Exome Variant Server PYROXD2_000162 2/12994 2/8590 0/4404
1 c.153G>A r.(=) p.(=) g.100167749C>T Copied from the Exome Variant Server PYROXD2_000161 1/13004 1/8598 0/4406
1 c.161A>G r.(?) p.(Gln54Arg) g.100167741T>C Copied from the Exome Variant Server PYROXD2_000160 1/13004 1/8598 0/4406
1 c.167_168del r.(?) p.(Leu56Argfs*20) g.100167734_100167735del Copied from the Exome Variant Server PYROXD2_000159 22/12516 0/8254 22/4262
1 c.181G>A r.(?) p.(Ala61Thr) g.100167721C>T Copied from the Exome Variant Server PYROXD2_000158 1/13006 0/8600 1/4406
1 c.183C>T r.(=) p.(=) g.100167719G>A Copied from the Exome Variant Server PYROXD2_000157 1/13006 1/8600 0/4406
1 c.197G>A r.(?) p.(Arg66His) g.100167705C>T Copied from the Exome Variant Server PYROXD2_000156 2/13006 0/8600 2/4406
1 c.207C>T r.(=) p.(=) g.100167695G>A Copied from the Exome Variant Server PYROXD2_000155 2/13006 0/8600 2/4406
1 c.208G>C r.(?) p.(Gly70Arg) g.100167694C>G Copied from the Exome Variant Server PYROXD2_000153 1/13006 0/8600 1/4406
1 c.216A>G r.(=) p.(=) g.100167686T>C Copied from the Exome Variant Server PYROXD2_000151 2/13006 0/8600 2/4406
1 c.225T>C r.(=) p.(=) g.100167677A>G Copied from the Exome Variant Server PYROXD2_000149 1/13006 1/8600 0/4406
1 c.229_231del r.(?) p.(Glu77del) g.100167671_100167673del Copied from the Exome Variant Server PYROXD2_000147 59/12518 44/8254 15/4264
1 c.240A>G r.(=) p.(=) g.100167662T>C Copied from the Exome Variant Server PYROXD2_000154 1/13006 0/8600 1/4406
1 c.241+39_241+40insGTGA r.(=) p.(=) g.100167621_100167622insTCAC Copied from the Exome Variant Server PYROXD2_000152 2/12494 2/8244 0/4250
1 c.241+40C>G r.(=) p.(=) g.100167621G>C Copied from the Exome Variant Server PYROXD2_000150 1/12986 0/8592 1/4394
1 c.242-60T>G r.(=) p.(=) g.100167472A>C Copied from the Exome Variant Server PYROXD2_000148 8/4566 0/3182 8/1384
1 c.242-39G>C r.(=) p.(=) g.100167451C>G Copied from the Exome Variant Server PYROXD2_000146 4366/13006 2285/8600 2081/4406
1 c.242-24A>G r.(=) p.(=) g.100167436T>C Copied from the Exome Variant Server PYROXD2_000145 4386/13006 2285/8600 2101/4406
1 c.242-49_242-21del r.(=) p.(=) g.100167433_100167461del Copied from the Exome Variant Server PYROXD2_000144 3972/12518 2090/8254 1882/4264
1 c.242-77_242-20del r.(=) p.(=) g.100167432_100167489del Copied from the Exome Variant Server PYROXD2_000143 3128/12518 1757/8254 1371/4264
1 c.242-9C>T r.(=) p.(=) g.100167421G>A Copied from the Exome Variant Server PYROXD2_000142 3/13006 0/8600 3/4406
1 c.242-8G>A r.(=) p.(=) g.100167420C>T Copied from the Exome Variant Server PYROXD2_000141 2/13006 2/8600 0/4406
1 c.258C>T r.(=) p.(=) g.100167396G>A Copied from the Exome Variant Server PYROXD2_000140 4373/13006 2287/8600 2086/4406
1 c.261G>A r.(=) p.(=) g.100167393C>T Copied from the Exome Variant Server PYROXD2_000139 2/13006 2/8600 0/4406
1 c.287C>T r.(?) p.(Pro96Leu) g.100167367G>A Copied from the Exome Variant Server PYROXD2_000138 11/13006 11/8600 0/4406
1 c.297C>T r.(=) p.(=) g.100167357G>A Copied from the Exome Variant Server PYROXD2_000137 15/13006 14/8600 1/4406
1 c.299C>G r.(?) p.(Thr100Ser) g.100167355G>C Copied from the Exome Variant Server PYROXD2_000136 1/13006 1/8600 0/4406
1 c.315+11C>A r.(=) p.(=) g.100167328G>T Copied from the Exome Variant Server PYROXD2_000135 1/13006 1/8600 0/4406
1 c.315+13C>T r.(=) p.(=) g.100167326G>A Copied from the Exome Variant Server PYROXD2_000134 18/13006 0/8600 18/4406
1 c.315+16C>T r.(=) p.(=) g.100167323G>A Copied from the Exome Variant Server PYROXD2_000133 206/13006 6/8600 200/4406
1 c.315+17G>A r.(=) p.(=) g.100167322C>T Copied from the Exome Variant Server PYROXD2_000132 2658/13006 2044/8600 614/4406
1 c.315+22G>A r.(=) p.(=) g.100167317C>T Copied from the Exome Variant Server PYROXD2_000131 18/13006 6/8600 12/4406
1 c.315+24T>A r.(=) p.(=) g.100167315A>T Copied from the Exome Variant Server PYROXD2_000130 29/13006 2/8600 27/4406
1 c.315+30G>A r.(=) p.(=) g.100167309C>T Copied from the Exome Variant Server PYROXD2_000129 4/13006 3/8600 1/4406
1 c.315+43A>G r.(=) p.(=) g.100167296T>C Copied from the Exome Variant Server PYROXD2_000128 1/13000 1/8598 0/4402
1 c.315+63T>G r.(=) p.(=) g.100167276A>C Copied from the Exome Variant Server PYROXD2_000127 1606/4566 873/3182 733/1384
1 c.335A>G r.(?) p.(His112Arg) g.100159995T>C Copied from the Exome Variant Server PYROXD2_000126 1/13006 1/8600 0/4406
1 c.341G>A r.(?) p.(Arg114Gln) g.100159989C>T Copied from the Exome Variant Server PYROXD2_000125 2/13006 2/8600 0/4406
1 c.359C>G r.(?) p.(Thr120Ser) g.100159971G>C Copied from the Exome Variant Server PYROXD2_000124 1/13006 0/8600 1/4406
1 c.369G>A r.(=) p.(=) g.100159961C>T Copied from the Exome Variant Server PYROXD2_000123 2/13006 2/8600 0/4406
1 c.377G>A r.(?) p.(Gly126Asp) g.100159953C>T Copied from the Exome Variant Server PYROXD2_000122 1/13006 1/8600 0/4406
1 c.408G>A r.(=) p.(=) g.100159922C>T Copied from the Exome Variant Server PYROXD2_000121 1/13006 0/8600 1/4406
1 c.444C>T r.(=) p.(=) g.100159886G>A Copied from the Exome Variant Server PYROXD2_000120 1/13006 0/8600 1/4406
1 c.447C>T r.(=) p.(=) g.100159883G>A Copied from the Exome Variant Server PYROXD2_000119 1/13006 1/8600 0/4406
1 c.471+11C>T r.(=) p.(=) g.100159848G>A Copied from the Exome Variant Server PYROXD2_000118 1/13006 1/8600 0/4406
1 c.471+39A>G r.(=) p.(=) g.100159820T>C Copied from the Exome Variant Server PYROXD2_000117 1/13006 1/8600 0/4406
1 c.472-26G>A r.(=) p.(=) g.100157281C>T Copied from the Exome Variant Server PYROXD2_000116 1/13006 1/8600 0/4406
1 c.503G>A r.(?) p.(Arg168His) g.100157224C>T Copied from the Exome Variant Server PYROXD2_000115 10/13006 0/8600 10/4406
1 c.555G>A r.(=) p.(=) g.100157172C>T Copied from the Exome Variant Server PYROXD2_000114 2/13006 2/8600 0/4406
1 c.596T>C r.(?) p.(Leu199Pro) g.100157131A>G Copied from the Exome Variant Server PYROXD2_000113 1/13006 1/8600 0/4406
1 c.609G>T r.(?) p.(Lys203Asn) g.100157118C>A Copied from the Exome Variant Server PYROXD2_000112 1/13006 1/8600 0/4406
1 c.612C>G r.(=) p.(=) g.100157115G>C Copied from the Exome Variant Server PYROXD2_000111 2/13006 2/8600 0/4406
1 c.625+36G>A r.(=) p.(=) g.100157066C>T Copied from the Exome Variant Server PYROXD2_000110 1/13006 0/8600 1/4406
1 c.625+52A>T r.(=) p.(=) g.100157050T>A Copied from the Exome Variant Server PYROXD2_000109 3/5734 0/3982 3/1752
1 c.626-38C>T r.(=) p.(=) g.100155247G>A Copied from the Exome Variant Server PYROXD2_000108 1/13006 0/8600 1/4406
1 c.626-31C>G r.(=) p.(=) g.100155240G>C Copied from the Exome Variant Server PYROXD2_000107 1/13006 1/8600 0/4406
1 c.629G>A r.(?) p.(Arg210His) g.100155206C>T Copied from the Exome Variant Server PYROXD2_000105 36/13006 0/8600 36/4406
1 c.645G>T r.(?) p.(Gln215His) g.100155190C>A Copied from the Exome Variant Server PYROXD2_000102 1/13006 0/8600 1/4406
1 c.652C>T r.(?) p.(Arg218*) g.100155183G>A Copied from the Exome Variant Server PYROXD2_000100 1/13006 1/8600 0/4406
1 c.667C>T r.(?) p.(Leu223Phe) g.100155168G>A Copied from the Exome Variant Server PYROXD2_000099 2/13006 0/8600 2/4406
1 c.687+21A>C r.(=) p.(=) g.100155127T>G Copied from the Exome Variant Server PYROXD2_000097 1/13006 1/8600 0/4406
1 c.687+27G>A r.(=) p.(=) g.100155121C>T Copied from the Exome Variant Server PYROXD2_000095 20/13006 1/8600 19/4406
1 c.687+30C>T r.(=) p.(=) g.100155118G>A Copied from the Exome Variant Server PYROXD2_000106 1/13006 1/8600 0/4406
1 c.687+40G>A r.(=) p.(=) g.100155108C>T Copied from the Exome Variant Server PYROXD2_000104 1/13006 0/8600 1/4406
1 c.688-36C>G r.(=) p.(=) g.100155086G>C Copied from the Exome Variant Server PYROXD2_000103 1/13006 0/8600 1/4406
1 c.688-34C>T r.(=) p.(=) g.100155084G>A Copied from the Exome Variant Server PYROXD2_000101 164/13006 1/8600 163/4406
1 c.688-32T>A r.(=) p.(=) g.100155082A>T Copied from the Exome Variant Server PYROXD2_000098 1/13006 1/8600 0/4406
1 c.688-8C>T r.(=) p.(=) g.100155058G>A Copied from the Exome Variant Server PYROXD2_000096 1/13006 0/8600 1/4406
1 c.725C>T r.(?) p.(Ala242Val) g.100155013G>A Copied from the Exome Variant Server PYROXD2_000094 1/13006 1/8600 0/4406
1 c.775C>G r.(?) p.(Pro259Ala) g.100154963G>C Copied from the Exome Variant Server PYROXD2_000093 1/13006 1/8600 0/4406
1 c.776C>T r.(?) p.(Pro259Leu) g.100154962G>A Copied from the Exome Variant Server PYROXD2_000092 1/13006 0/8600 1/4406
1 c.777G>A r.(=) p.(=) g.100154961C>T Copied from the Exome Variant Server PYROXD2_000091 11/13006 11/8600 0/4406
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