All transcript variants in gene DGCR2

Information The variants shown are described using the NM_005137.2 transcript reference sequence.

162 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     
?/? c.-45T>C r.(=) p.(=) g.19109764A>G Copied from the Exome Variant Server DGCR2_000162 4365/11770 2544/7768 1821/4002
?/? c.-35_-34insCCCAGCGGGG r.(=) p.(=) g.19109753_19109754insCCCCGCTGGG Copied from the Exome Variant Server DGCR2_000161 1645/11310 1107/7452 538/3858
?/? c.-34T>C r.(=) p.(=) g.19109753A>G Copied from the Exome Variant Server DGCR2_000160 4067/11894 2278/7850 1789/4044
?/? c.-33_-32insACG r.(=) p.(=) g.19109751_19109752insCGT Copied from the Exome Variant Server DGCR2_000159 1707/11622 1183/7668 524/3954
?/? c.6G>C r.(=) p.(=) g.19109714C>G Copied from the Exome Variant Server DGCR2_000158 1/12694 1/8402 0/4292
?/? c.29T>G r.(?) p.(Phe10Cys) g.19109691A>C Copied from the Exome Variant Server DGCR2_000157 1/12612 1/8362 0/4250
?/? c.31C>T r.(=) p.(=) g.19109689G>A Copied from the Exome Variant Server DGCR2_000156 10/12594 10/8350 0/4244
?/? c.64_65insG r.(?) p.(Glu22Glyfs*31) g.19109655_19109656insC Copied from the Exome Variant Server DGCR2_000155 141/11156 99/7344 42/3812
?/? c.66G>A r.(=) p.(=) g.19109654C>T Copied from the Exome Variant Server DGCR2_000154 1/12376 1/8214 0/4162
?/? c.80-46G>A r.(=) p.(=) g.19077049C>T Copied from the Exome Variant Server DGCR2_000153 12170/13006 7858/8600 4312/4406
?/? c.80-35C>T r.(=) p.(=) g.19077038G>A Copied from the Exome Variant Server DGCR2_000152 238/13006 155/8600 83/4406
?/? c.80-34T>G r.(=) p.(=) g.19077037A>C Copied from the Exome Variant Server DGCR2_000151 1/13006 1/8600 0/4406
?/? c.85C>T r.(?) p.(Arg29Trp) g.19076998G>A Copied from the Exome Variant Server DGCR2_000150 1/13006 1/8600 0/4406
?/? c.96T>C r.(=) p.(=) g.19076987A>G Copied from the Exome Variant Server DGCR2_000149 1/13006 1/8600 0/4406
?/? c.113G>A r.(?) p.(Arg38His) g.19076970C>T Copied from the Exome Variant Server DGCR2_000148 7/13006 3/8600 4/4406
?/? c.148C>G r.(?) p.(Gln50Glu) g.19076935G>C Copied from the Exome Variant Server DGCR2_000147 1/13006 1/8600 0/4406
?/? c.156C>T r.(=) p.(=) g.19076927G>A Copied from the Exome Variant Server DGCR2_000146 3/13006 3/8600 0/4406
?/? c.171C>T r.(=) p.(=) g.19076912G>A Copied from the Exome Variant Server DGCR2_000145 11/13006 0/8600 11/4406
?/? c.186C>T r.(=) p.(=) g.19076897G>A Copied from the Exome Variant Server DGCR2_000144 5/13006 0/8600 5/4406
?/? c.202+19C>T r.(=) p.(=) g.19076862G>A Copied from the Exome Variant Server DGCR2_000143 2/13006 2/8600 0/4406
?/? c.202+34del r.(=) p.(=) g.19076847del Copied from the Exome Variant Server DGCR2_000142 9/12518 5/8254 4/4264
?/? c.202+37G>A r.(=) p.(=) g.19076844C>T Copied from the Exome Variant Server DGCR2_000141 1/13004 1/8598 0/4406
?/? c.203-47C>T r.(=) p.(=) g.19055785G>A Copied from the Exome Variant Server DGCR2_000140 1/13006 1/8600 0/4406
?/? c.203-32G>T r.(=) p.(=) g.19055770C>A Copied from the Exome Variant Server DGCR2_000139 1/13006 1/8600 0/4406
?/? c.240G>A r.(=) p.(=) g.19055701C>T Copied from the Exome Variant Server DGCR2_000138 1/13006 1/8600 0/4406
?/? c.253C>T r.(?) p.(Arg85Trp) g.19055688G>A Copied from the Exome Variant Server DGCR2_000137 10/13006 2/8600 8/4406
?/? c.262C>T r.(?) p.(Arg88Trp) g.19055679G>A Copied from the Exome Variant Server DGCR2_000136 1/13006 0/8600 1/4406
?/? c.276C>T r.(=) p.(=) g.19055665G>A Copied from the Exome Variant Server DGCR2_000135 1/13006 1/8600 0/4406
?/? c.284C>T r.(?) p.(Ser95Leu) g.19055657G>A Copied from the Exome Variant Server DGCR2_000134 5/13006 1/8600 4/4406
?/? c.288C>T r.(=) p.(=) g.19055653G>A Copied from the Exome Variant Server DGCR2_000133 1/13006 1/8600 0/4406
?/? c.291C>A r.(?) p.(Phe97Leu) g.19055650G>T Copied from the Exome Variant Server DGCR2_000132 1/13006 1/8600 0/4406
?/? c.294C>T r.(=) p.(=) g.19055647G>A Copied from the Exome Variant Server DGCR2_000131 1/13006 0/8600 1/4406
?/? c.296C>T r.(?) p.(Ala99Val) g.19055645G>A Copied from the Exome Variant Server DGCR2_000130 1/13006 0/8600 1/4406
?/? c.297G>A r.(=) p.(=) g.19055644C>T Copied from the Exome Variant Server DGCR2_000129 1/13006 0/8600 1/4406
?/? c.304G>A r.(?) p.(Val102Met) g.19055637C>T Copied from the Exome Variant Server DGCR2_000128 8/13006 7/8600 1/4406
?/? c.309G>A r.(=) p.(=) g.19055632C>T Copied from the Exome Variant Server DGCR2_000127 2/13006 0/8600 2/4406
?/? c.311A>T r.(?) p.(Gln104Leu) g.19055630T>A Copied from the Exome Variant Server DGCR2_000126 1/13006 1/8600 0/4406
?/? c.328+11G>T r.(=) p.(=) g.19055602C>A Copied from the Exome Variant Server DGCR2_000125 1/13006 1/8600 0/4406
?/? c.328+16G>T r.(=) p.(=) g.19055597C>A Copied from the Exome Variant Server DGCR2_000124 3/13006 2/8600 1/4406
?/? c.328+44G>A r.(=) p.(=) g.19055569C>T Copied from the Exome Variant Server DGCR2_000123 1/13006 0/8600 1/4406
?/? c.329-11C>G r.(=) p.(=) g.19052591G>C Copied from the Exome Variant Server DGCR2_000122 2/13006 2/8600 0/4406
?/? c.329-10T>C r.(=) p.(=) g.19052590A>G Copied from the Exome Variant Server DGCR2_000121 2/13006 0/8600 2/4406
?/? c.347C>T r.(?) p.(Pro116Leu) g.19052562G>A Copied from the Exome Variant Server DGCR2_000120 1/13006 0/8600 1/4406
?/? c.360C>G r.(?) p.(His120Gln) g.19052549G>C Copied from the Exome Variant Server DGCR2_000119 1/13006 0/8600 1/4406
?/? c.366C>T r.(=) p.(=) g.19052543G>A Copied from the Exome Variant Server DGCR2_000118 1/13006 0/8600 1/4406
?/? c.388C>T r.(?) p.(Arg130Trp) g.19052521G>A Copied from the Exome Variant Server DGCR2_000117 1/13006 0/8600 1/4406
?/? c.389G>A r.(?) p.(Arg130Gln) g.19052520C>T Copied from the Exome Variant Server DGCR2_000116 1/13006 0/8600 1/4406
?/? c.403G>A r.(?) p.(Gly135Arg) g.19052506C>T Copied from the Exome Variant Server DGCR2_000115 2/13006 2/8600 0/4406
?/? c.423C>T r.(=) p.(=) g.19052486G>A Copied from the Exome Variant Server DGCR2_000114 281/13006 3/8600 278/4406
?/? c.425C>A r.(?) p.(Ala142Glu) g.19052484G>T Copied from the Exome Variant Server DGCR2_000113 1/13006 1/8600 0/4406
?/? c.484C>T r.(?) p.(Arg162Cys) g.19052425G>A Copied from the Exome Variant Server DGCR2_000112 1/13006 1/8600 0/4406
?/? c.485G>T r.(?) p.(Arg162Leu) g.19052424C>A Copied from the Exome Variant Server DGCR2_000111 6/13006 3/8600 3/4406
?/? c.516C>T r.(=) p.(=) g.19052393G>A Copied from the Exome Variant Server DGCR2_000110 1/13006 1/8600 0/4406
?/? c.520C>T r.(?) p.(Arg174Trp) g.19052389G>A Copied from the Exome Variant Server DGCR2_000109 1/13006 0/8600 1/4406
?/? c.521G>C r.(?) p.(Arg174Pro) g.19052388C>G Copied from the Exome Variant Server DGCR2_000108 3/13006 3/8600 0/4406
?/? c.524G>T r.(?) p.(Ser175Ile) g.19052385C>A Copied from the Exome Variant Server DGCR2_000107 1/13006 0/8600 1/4406
?/? c.548+13T>C r.(=) p.(=) g.19052348A>G Copied from the Exome Variant Server DGCR2_000106 93/13006 86/8600 7/4406
?/? c.548+39_548+40del r.(=) p.(=) g.19052321_19052322del Copied from the Exome Variant Server DGCR2_000105 11/12518 11/8254 0/4264
?/? c.548+42C>G r.(=) p.(=) g.19052319G>C Copied from the Exome Variant Server DGCR2_000104 1/13006 1/8600 0/4406
?/? c.549-64_549-63del r.(=) p.(=) g.19050854_19050855del Copied from the Exome Variant Server DGCR2_000103 2/12516 1/8254 1/4262
?/? c.549-44C>T r.(=) p.(=) g.19050835G>A Copied from the Exome Variant Server DGCR2_000102 1/13006 1/8600 0/4406
?/? c.549-36C>T r.(=) p.(=) g.19050827G>A Copied from the Exome Variant Server DGCR2_000101 1/13006 1/8600 0/4406
?/? c.578C>G r.(?) p.(Thr193Ser) g.19050762G>C Copied from the Exome Variant Server DGCR2_000100 6/13006 6/8600 0/4406
?/? c.589C>T r.(?) p.(Arg197Cys) g.19050751G>A Copied from the Exome Variant Server DGCR2_000099 1/13006 1/8600 0/4406
?/? c.600A>T r.(?) p.(Glu200Asp) g.19050740T>A Copied from the Exome Variant Server DGCR2_000098 1/13006 1/8600 0/4406
?/? c.625+7C>G r.(=) p.(=) g.19050708G>C Copied from the Exome Variant Server DGCR2_000097 10/13006 0/8600 10/4406
?/? c.625+11C>G r.(=) p.(=) g.19050704G>C Copied from the Exome Variant Server DGCR2_000096 39/13006 35/8600 4/4406
?/? c.625+17T>G r.(=) p.(=) g.19050698A>C Copied from the Exome Variant Server DGCR2_000095 169/13006 1/8600 168/4406
?/? c.625+37G>A r.(=) p.(=) g.19050678C>T Copied from the Exome Variant Server DGCR2_000094 1/13006 1/8600 0/4406
?/? c.625+55C>T r.(=) p.(=) g.19050660G>A Copied from the Exome Variant Server DGCR2_000093 13/4566 10/3182 3/1384
?/? c.625+2209T>A r.(=) p.(=) g.19048506A>T Copied from the Exome Variant Server DGCR2_000092 13/5734 9/3982 4/1752
?/? c.625+2217A>G r.(=) p.(=) g.19048498T>C Copied from the Exome Variant Server DGCR2_000091 3/5734 3/3982 0/1752
?/? c.625+2231G>A r.(=) p.(=) g.19048484C>T Copied from the Exome Variant Server DGCR2_000090 1/5734 0/3982 1/1752
?/? c.625+2252G>A r.(=) p.(=) g.19048463C>T Copied from the Exome Variant Server DGCR2_000089 1/5734 0/3982 1/1752
?/? c.625+2266C>T r.(=) p.(=) g.19048449G>A Copied from the Exome Variant Server DGCR2_000088 1087/5734 803/3982 284/1752
?/? c.625+2279C>T r.(=) p.(=) g.19048436G>A Copied from the Exome Variant Server DGCR2_000087 541/5734 463/3982 78/1752
?/? c.625+2300G>A r.(=) p.(=) g.19048415C>T Copied from the Exome Variant Server DGCR2_000086 1/5734 1/3982 0/1752
?/? c.625+2302T>C r.(=) p.(=) g.19048413A>G Copied from the Exome Variant Server DGCR2_000085 2821/5734 1698/3982 1123/1752
?/? c.625+2310A>G r.(=) p.(=) g.19048405T>C Copied from the Exome Variant Server DGCR2_000084 1/5734 1/3982 0/1752
?/? c.625+2316A>G r.(=) p.(=) g.19048399T>C Copied from the Exome Variant Server DGCR2_000083 1/5734 0/3982 1/1752
?/? c.625+2339C>T r.(=) p.(=) g.19048376G>A Copied from the Exome Variant Server DGCR2_000082 1/5734 0/3982 1/1752
?/? c.625+2366G>A r.(=) p.(=) g.19048349C>T Copied from the Exome Variant Server DGCR2_000081 51/5734 2/3982 49/1752
?/? c.625+2387_625+2395del r.(=) p.(=) g.19048320_19048328del Copied from the Exome Variant Server DGCR2_000080 651/6548 412/4416 239/2132
?/? c.626-13G>A r.(=) p.(=) g.19044688C>T Copied from the Exome Variant Server DGCR2_000079 2/13002 0/8596 2/4406
?/? c.678T>G r.(=) p.(=) g.19044623A>C Copied from the Exome Variant Server DGCR2_000078 28/13004 1/8598 27/4406
?/? c.684C>T r.(=) p.(=) g.19044617G>A Copied from the Exome Variant Server DGCR2_000077 1/13004 0/8598 1/4406
?/? c.704A>G r.(?) p.(Gln235Arg) g.19044597T>C Copied from the Exome Variant Server DGCR2_000076 1/13006 1/8600 0/4406
?/? c.733C>T r.(?) p.(Arg245Trp) g.19044568G>A Copied from the Exome Variant Server DGCR2_000075 1/13006 1/8600 0/4406
?/? c.736C>T r.(?) p.(His246Tyr) g.19044565G>A Copied from the Exome Variant Server DGCR2_000074 2/13004 2/8598 0/4406
?/? c.741C>T r.(=) p.(=) g.19044560G>A Copied from the Exome Variant Server DGCR2_000073 1/13006 1/8600 0/4406
?/? c.760G>T r.(?) p.(Ala254Ser) g.19044541C>A Copied from the Exome Variant Server DGCR2_000072 1/13004 1/8598 0/4406
?/? c.762C>T r.(=) p.(=) g.19044539G>A Copied from the Exome Variant Server DGCR2_000071 2/13004 1/8598 1/4406
?/? c.774C>T r.(=) p.(=) g.19044527G>A Copied from the Exome Variant Server DGCR2_000070 1/13004 0/8598 1/4406
?/? c.802A>G r.(?) p.(Ser268Gly) g.19044499T>C Copied from the Exome Variant Server DGCR2_000069 1/13006 1/8600 0/4406
?/? c.802+21G>A r.(=) p.(=) g.19044478C>T Copied from the Exome Variant Server DGCR2_000068 4/12992 1/8594 3/4398
?/? c.803-16T>C r.(=) p.(=) g.19036172A>G Copied from the Exome Variant Server DGCR2_000067 2/13006 1/8600 1/4406
?/? c.803-6T>C r.(=) p.(=) g.19036162A>G Copied from the Exome Variant Server DGCR2_000066 1/13006 1/8600 0/4406
?/? c.803-5T>C r.spl? p.? g.19036161A>G Copied from the Exome Variant Server DGCR2_000065 7/13006 6/8600 1/4406
?/? c.822C>T r.(=) p.(=) g.19036137G>A Copied from the Exome Variant Server DGCR2_000064 1/13006 0/8600 1/4406
?/? c.830A>G r.(?) p.(Asn277Ser) g.19036129T>C Copied from the Exome Variant Server DGCR2_000063 1/13006 1/8600 0/4406
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