Unique variants in gene ENPP2

Information The variants shown are described using the NM_001040092.2 transcript reference sequence.

216 entries on 3 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3     Next › Last »

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-71G>C r.(=) p.(=) g.120651091C>G Copied from the Exome Variant Server ENPP2_000216 1/4566 1/3182 0/1384
1 c.-42C>A r.(=) p.(=) g.120651062G>T Copied from the Exome Variant Server ENPP2_000215 1/13006 0/8600 1/4406
1 c.-13A>T r.(=) p.(=) g.120651033T>A Copied from the Exome Variant Server ENPP2_000214 1/13006 1/8600 0/4406
1 c.-12A>G r.(=) p.(=) g.120651032T>C Copied from the Exome Variant Server ENPP2_000213 1/13006 1/8600 0/4406
1 c.11G>A r.(?) p.(Arg4Lys) g.120651010C>T Copied from the Exome Variant Server ENPP2_000212 2/13006 0/8600 2/4406
1 c.12G>A r.(=) p.(=) g.120651009C>T Copied from the Exome Variant Server ENPP2_000211 1/13006 1/8600 0/4406
1 c.16T>G r.(?) p.(Ser6Ala) g.120651005A>C Copied from the Exome Variant Server ENPP2_000210 1/13006 1/8600 0/4406
1 c.33+37T>A r.(=) p.(=) g.120650951A>T Copied from the Exome Variant Server ENPP2_000209 90/13006 0/8600 90/4406
1 c.33+42A>G r.(=) p.(=) g.120650946T>C Copied from the Exome Variant Server ENPP2_000208 1/13006 0/8600 1/4406
1 c.33+53C>T r.(=) p.(=) g.120650935G>A Copied from the Exome Variant Server ENPP2_000207 9/4566 0/3182 9/1384
1 c.34-52G>T r.(=) p.(=) g.120650819C>A Copied from the Exome Variant Server ENPP2_000206 2/7272 2/4618 0/2654
1 c.34-23A>G r.(=) p.(=) g.120650790T>C Copied from the Exome Variant Server ENPP2_000205 3/13006 0/8600 3/4406
1 c.34-14C>T r.(=) p.(=) g.120650781G>A Copied from the Exome Variant Server ENPP2_000204 38/13006 37/8600 1/4406
1 c.34-12_34-11del r.(=) p.(=) g.120650778_120650779del Copied from the Exome Variant Server ENPP2_000203 13/12518 9/8254 4/4264
1 c.88G>A r.(?) p.(Ala30Thr) g.120650713C>T Copied from the Exome Variant Server ENPP2_000202 2/13006 2/8600 0/4406
1 c.94C>G r.(?) p.(Arg32Gly) g.120650707G>C Copied from the Exome Variant Server ENPP2_000201 1/13006 1/8600 0/4406
1 c.101A>G r.(?) p.(Lys34Arg) g.120650700T>C Copied from the Exome Variant Server ENPP2_000200 1/13006 0/8600 1/4406
1 c.128C>T r.(?) p.(Pro43Leu) g.120650673G>A Copied from the Exome Variant Server ENPP2_000199 33/13006 0/8600 33/4406
1 c.134C>A r.(?) p.(Thr45Lys) g.120650667G>T Copied from the Exome Variant Server ENPP2_000198 1/13004 1/8598 0/4406
1 c.136+50C>T r.(=) p.(=) g.120650615G>A Copied from the Exome Variant Server ENPP2_000197 4/13004 0/8600 4/4404
1 c.136+51G>A r.(=) p.(=) g.120650614C>T Copied from the Exome Variant Server ENPP2_000196 23/13002 0/8598 23/4404
1 c.137-45A>T r.(=) p.(=) g.120639005T>A Copied from the Exome Variant Server ENPP2_000195 1/13006 0/8600 1/4406
1 c.137-36C>T r.(=) p.(=) g.120638996G>A Copied from the Exome Variant Server ENPP2_000194 1/13006 0/8600 1/4406
1 c.137-26T>C r.(=) p.(=) g.120638986A>G Copied from the Exome Variant Server ENPP2_000193 1/13006 1/8600 0/4406
1 c.170G>A r.(?) p.(Gly57Glu) g.120638927C>T Copied from the Exome Variant Server ENPP2_000192 67/13006 58/8600 9/4406
1 c.196C>T r.(?) p.(Leu66Phe) g.120638901G>A Copied from the Exome Variant Server ENPP2_000191 1/13006 1/8600 0/4406
1 c.233A>G r.(?) p.(Asn78Ser) g.120638864T>C Copied from the Exome Variant Server ENPP2_000190 2/13006 1/8600 1/4406
1 c.292+3A>G r.spl? p.? g.120638802T>C Copied from the Exome Variant Server ENPP2_000189 1/13006 1/8600 0/4406
1 c.292+30C>T r.(=) p.(=) g.120638775G>A Copied from the Exome Variant Server ENPP2_000188 2/13006 2/8600 0/4406
1 c.292+35A>G r.(=) p.(=) g.120638770T>C Copied from the Exome Variant Server ENPP2_000187 1/13006 0/8600 1/4406
1 c.292+37A>T r.(=) p.(=) g.120638768T>A Copied from the Exome Variant Server ENPP2_000186 1/13006 0/8600 1/4406
1 c.293-19T>G r.(=) p.(=) g.120633778A>C Copied from the Exome Variant Server ENPP2_000185 1/13006 0/8600 1/4406
1 c.295C>T r.(?) p.(Arg99Cys) g.120633757G>A Copied from the Exome Variant Server ENPP2_000184 18/13006 15/8600 3/4406
1 c.296G>A r.(?) p.(Arg99His) g.120633756C>T Copied from the Exome Variant Server ENPP2_000183 3/13006 0/8600 3/4406
1 c.298G>A r.(?) p.(Gly100Ser) g.120633754C>T Copied from the Exome Variant Server ENPP2_000182 1/13006 1/8600 0/4406
1 c.315G>A r.(=) p.(=) g.120633737C>T Copied from the Exome Variant Server ENPP2_000181 1/13006 1/8600 0/4406
1 c.365A>G r.(?) p.(Glu122Gly) g.120633687T>C Copied from the Exome Variant Server ENPP2_000180 3/13006 3/8600 0/4406
1 c.418+4C>T r.spl? p.? g.120633630G>A Copied from the Exome Variant Server ENPP2_000179 1/13006 0/8600 1/4406
1 c.418+5G>A r.spl? p.? g.120633629C>T Copied from the Exome Variant Server ENPP2_000178 1/13006 0/8600 1/4406
1 c.418+38A>G r.(=) p.(=) g.120633596T>C Copied from the Exome Variant Server ENPP2_000177 1/13006 0/8600 1/4406
1 c.418+43A>G r.(=) p.(=) g.120633591T>C Copied from the Exome Variant Server ENPP2_000176 1/13006 0/8600 1/4406
1 c.426G>A r.(=) p.(=) g.120631537C>T Copied from the Exome Variant Server ENPP2_000175 2/13006 1/8600 1/4406
1 c.444C>T r.(=) p.(=) g.120631519G>A Copied from the Exome Variant Server ENPP2_000174 2/13006 2/8600 0/4406
1 c.478G>T r.(?) p.(Gly160Trp) g.120631485C>A Copied from the Exome Variant Server ENPP2_000173 1/13006 1/8600 0/4406
1 c.479+5G>A r.spl? p.? g.120631479C>T Copied from the Exome Variant Server ENPP2_000172 1/13006 1/8600 0/4406
1 c.480-33T>G r.(=) p.(=) g.120629836A>C Copied from the Exome Variant Server ENPP2_000171 1/13006 0/8600 1/4406
1 c.480-28C>G r.(=) p.(=) g.120629831G>C Copied from the Exome Variant Server ENPP2_000170 1/13006 1/8600 0/4406
1 c.510C>T r.(=) p.(=) g.120629773G>A Copied from the Exome Variant Server ENPP2_000169 1/13006 1/8600 0/4406
1 c.536T>C r.(?) p.(Met179Thr) g.120629747A>G Copied from the Exome Variant Server ENPP2_000168 2/13006 0/8600 2/4406
1 c.577+26C>A r.(=) p.(=) g.120629680G>T Copied from the Exome Variant Server ENPP2_000167 1/13006 0/8600 1/4406
1 c.577+52C>G r.(=) p.(=) g.120629654G>C Copied from the Exome Variant Server ENPP2_000166 4/10298 0/7162 4/3136
1 c.578-53A>G r.(=) p.(=) g.120629536T>C Copied from the Exome Variant Server ENPP2_000165 1/4566 0/3182 1/1384
1 c.597T>A r.(=) p.(=) g.120629464A>T Copied from the Exome Variant Server ENPP2_000164 1/13006 1/8600 0/4406
1 c.612G>A r.(=) p.(=) g.120629449C>T Copied from the Exome Variant Server ENPP2_000163 1/13006 0/8600 1/4406
1 c.634C>T r.(?) p.(Pro212Ser) g.120629427G>A Copied from the Exome Variant Server ENPP2_000162 1/13006 1/8600 0/4406
1 c.657+4A>C r.spl? p.? g.120629400T>G Copied from the Exome Variant Server ENPP2_000161 1/13006 1/8600 0/4406
1 c.658-49G>A r.(=) p.(=) g.120628673C>T Copied from the Exome Variant Server ENPP2_000160 1/13004 0/8598 1/4406
1 c.658-48T>A r.(=) p.(=) g.120628672A>T Copied from the Exome Variant Server ENPP2_000159 1/13004 1/8598 0/4406
1 c.658-24C>T r.(=) p.(=) g.120628648G>A Copied from the Exome Variant Server ENPP2_000157 1/13006 1/8600 0/4406
1 c.740G>A r.(?) p.(Arg247Gln) g.120628542C>T Copied from the Exome Variant Server ENPP2_000155 1/13006 1/8600 0/4406
1 c.777+15T>A r.(=) p.(=) g.120628490A>T Copied from the Exome Variant Server ENPP2_000153 1/13006 1/8600 0/4406
1 c.777+23G>A r.(=) p.(=) g.120628482C>T Copied from the Exome Variant Server ENPP2_000151 37/13006 0/8600 37/4406
1 c.778-20G>A r.(=) p.(=) g.120620237C>T Copied from the Exome Variant Server ENPP2_000149 2/13006 2/8600 0/4406
1 c.803G>T r.(?) p.(Gly268Val) g.120620192C>A Copied from the Exome Variant Server ENPP2_000148 1/13006 1/8600 0/4406
1 c.805_806insG r.(?) p.(Val269Glyfs*31) g.120620189_120620190insC Copied from the Exome Variant Server ENPP2_000146 1/12518 1/8254 0/4264
1 c.811G>T r.(?) p.(Ala271Ser) g.120620184C>A Copied from the Exome Variant Server ENPP2_000143 1/13006 0/8600 1/4406
1 c.833+17T>A r.(=) p.(=) g.120620145A>T Copied from the Exome Variant Server ENPP2_000158 1/13006 1/8600 0/4406
1 c.834-45G>A r.(=) p.(=) g.120613747C>T Copied from the Exome Variant Server ENPP2_000156 6528/13006 3853/8600 2675/4406
1 c.846C>G r.(?) p.(His282Gln) g.120613690G>C Copied from the Exome Variant Server ENPP2_000154 1/13006 1/8600 0/4406
1 c.851G>A r.(?) p.(Arg284Gln) g.120613685C>T Copied from the Exome Variant Server ENPP2_000152 2/13006 1/8600 1/4406
1 c.899+58C>T r.(=) p.(=) g.120613579G>A Copied from the Exome Variant Server ENPP2_000150 1/4566 1/3182 0/1384
1 c.900-57A>G r.(=) p.(=) g.120613047T>C Copied from the Exome Variant Server ENPP2_000147 2/4566 0/3182 2/1384
1 c.900-43A>T r.(=) p.(=) g.120613033T>A Copied from the Exome Variant Server ENPP2_000145 2/13006 2/8600 0/4406
1 c.900-42T>C r.(=) p.(=) g.120613032A>G Copied from the Exome Variant Server ENPP2_000144 2/13006 1/8600 1/4406
1 c.906G>A r.(=) p.(=) g.120612984C>T Copied from the Exome Variant Server ENPP2_000142 80/13006 0/8600 80/4406
1 c.963C>T r.(=) p.(=) g.120612927G>A Copied from the Exome Variant Server ENPP2_000141 2/13006 0/8600 2/4406
1 c.964G>A r.(?) p.(Gly322Ser) g.120612926C>T Copied from the Exome Variant Server ENPP2_000140 1/13006 0/8600 1/4406
1 c.972+18_972+19insT r.(=) p.(=) g.120612899_120612900insA Copied from the Exome Variant Server ENPP2_000139 14/12518 1/8254 13/4264
1 c.972+46T>A r.(=) p.(=) g.120612872A>T Copied from the Exome Variant Server ENPP2_000138 19/13006 0/8600 19/4406
1 c.973-2179G>A r.(=) p.(=) g.120608279C>T Copied from the Exome Variant Server ENPP2_000137 1/13006 1/8600 0/4406
1 c.973-2152G>A r.(=) p.(=) g.120608252C>T Copied from the Exome Variant Server ENPP2_000136 1/13006 1/8600 0/4406
1 c.973-2129G>A r.(=) p.(=) g.120608229C>T Copied from the Exome Variant Server ENPP2_000135 10/13006 6/8600 4/4406
1 c.973-2122T>C r.(=) p.(=) g.120608222A>G Copied from the Exome Variant Server ENPP2_000134 124/13006 115/8600 9/4406
1 c.973-2088G>T r.(=) p.(=) g.120608188C>A Copied from the Exome Variant Server ENPP2_000133 1/13006 0/8600 1/4406
1 c.973-2034_973-2033insGAA r.(=) p.(=) g.120608133_120608134insTTC Copied from the Exome Variant Server ENPP2_000132 1/12518 0/8254 1/4264
1 c.973-2021T>C r.(=) p.(=) g.120608121A>G Copied from the Exome Variant Server ENPP2_000131 1/13006 0/8600 1/4406
1 c.973-2006C>T r.(=) p.(=) g.120608106G>A Copied from the Exome Variant Server ENPP2_000130 1/13006 0/8600 1/4406
1 c.973-1999T>A r.(=) p.(=) g.120608099A>T Copied from the Exome Variant Server ENPP2_000129 1/13006 1/8600 0/4406
1 c.973-1997G>A r.(=) p.(=) g.120608097C>T Copied from the Exome Variant Server ENPP2_000128 2/13006 2/8600 0/4406
1 c.973-1974A>G r.(=) p.(=) g.120608074T>C Copied from the Exome Variant Server ENPP2_000127 191/13006 0/8600 191/4406
1 c.973-1947G>A r.(=) p.(=) g.120608047C>T Copied from the Exome Variant Server ENPP2_000126 1/13006 0/8600 1/4406
1 c.973-47G>A r.(=) p.(=) g.120606147C>T Copied from the Exome Variant Server ENPP2_000125 13/13006 1/8600 12/4406
1 c.973-37A>G r.(=) p.(=) g.120606137T>C Copied from the Exome Variant Server ENPP2_000124 1/13006 1/8600 0/4406
1 c.993A>G r.(=) p.(=) g.120606080T>C Copied from the Exome Variant Server ENPP2_000123 2/13006 0/8600 2/4406
1 c.1048C>T r.(?) p.(Arg350Trp) g.120606025G>A Copied from the Exome Variant Server ENPP2_000122 2/13006 2/8600 0/4406
1 c.1050G>A r.(=) p.(=) g.120606023C>T Copied from the Exome Variant Server ENPP2_000121 106/13006 100/8600 6/4406
1 c.1059C>T r.(=) p.(=) g.120606014G>A Copied from the Exome Variant Server ENPP2_000120 1/13006 1/8600 0/4406
1 c.1077C>T r.(=) p.(=) g.120605996G>A Copied from the Exome Variant Server ENPP2_000119 1/13006 1/8600 0/4406
1 c.1081+37G>A r.(=) p.(=) g.120605955C>T Copied from the Exome Variant Server ENPP2_000118 11/13006 0/8600 11/4406
1 c.1082-45C>T r.(=) p.(=) g.120602915G>A Copied from the Exome Variant Server ENPP2_000117 7/12956 7/8588 0/4368
Legend   « First ‹ Prev     1 2 3     Next › Last »