Unique variants in gene PHLPP2

Information The variants shown are described using the NM_015020.2 transcript reference sequence.

225 entries on 3 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.-2A>C r.(=) p.(=) g.71748700T>G Copied from the Exome Variant Server PHLPP2_000225 1/12994 1/8598 0/4396
1 c.61A>G r.(?) p.(Arg21Gly) g.71748638T>C Copied from the Exome Variant Server PHLPP2_000224 1/12996 1/8600 0/4396
1 c.82G>A r.(?) p.(Val28Ile) g.71748617C>T Copied from the Exome Variant Server PHLPP2_000223 1/12996 0/8600 1/4396
1 c.117C>T r.(=) p.(=) g.71748582G>A Copied from the Exome Variant Server PHLPP2_000222 1/12996 0/8600 1/4396
1 c.118A>G r.(?) p.(Thr40Ala) g.71748581T>C Copied from the Exome Variant Server PHLPP2_000221 1/12996 1/8600 0/4396
1 c.128C>T r.(?) p.(Ala43Val) g.71748571G>A Copied from the Exome Variant Server PHLPP2_000220 1/12996 0/8600 1/4396
1 c.139A>T r.(?) p.(Thr47Ser) g.71748560T>A Copied from the Exome Variant Server PHLPP2_000219 1/12996 0/8600 1/4396
1 c.155C>G r.(?) p.(Ser52Cys) g.71748544G>C Copied from the Exome Variant Server PHLPP2_000218 1/12996 1/8600 0/4396
1 c.164_165insTTCCTC r.(?) p.(Ser59_Ser60dup) g.71748534_71748535insGAGGAA Copied from the Exome Variant Server PHLPP2_000217 8/12518 6/8254 2/4264
1 c.183C>G r.(?) p.(Asp61Glu) g.71748516G>C Copied from the Exome Variant Server PHLPP2_000216 1/12996 1/8600 0/4396
1 c.233_234insC r.(?) p.(Gly79Trpfs*23) g.71748465_71748466insG Copied from the Exome Variant Server PHLPP2_000215 1/12518 1/8254 0/4264
1 c.284+21C>A r.(=) p.(=) g.71748394G>T Copied from the Exome Variant Server PHLPP2_000214 1/12996 0/8600 1/4396
1 c.284+25A>G r.(=) p.(=) g.71748390T>C Copied from the Exome Variant Server PHLPP2_000213 2/12996 2/8600 0/4396
1 c.284+12_284+26del r.(=) p.(=) g.71748389_71748403del Copied from the Exome Variant Server PHLPP2_000212 11/12518 11/8254 0/4264
1 c.285-50C>T r.(=) p.(=) g.71736684G>A Copied from the Exome Variant Server PHLPP2_000211 6/12774 0/8442 6/4332
1 c.285-40del r.(=) p.(=) g.71736674del Copied from the Exome Variant Server PHLPP2_000210 1/12422 1/8182 0/4240
1 c.333A>G r.(=) p.(=) g.71736586T>C Copied from the Exome Variant Server PHLPP2_000209 1/12996 1/8600 0/4396
1 c.361C>T r.(?) p.(Arg121Cys) g.71736558G>A Copied from the Exome Variant Server PHLPP2_000208 3/12996 3/8600 0/4396
1 c.380C>T r.(?) p.(Thr127Ile) g.71736539G>A Copied from the Exome Variant Server PHLPP2_000207 1/12996 0/8600 1/4396
1 c.400A>G r.(?) p.(Met134Val) g.71736519T>C Copied from the Exome Variant Server PHLPP2_000206 1/12996 0/8600 1/4396
1 c.418+32C>T r.(=) p.(=) g.71736469G>A Copied from the Exome Variant Server PHLPP2_000204 2/12996 2/8600 0/4396
1 c.418+1356T>A r.(=) p.(=) g.71735145A>T Copied from the Exome Variant Server PHLPP2_000205 22/4566 0/3182 22/1384
1 c.419-44_419-43insA r.(=) p.(=) g.71724655_71724656insT Copied from the Exome Variant Server PHLPP2_000203 1/12518 1/8254 0/4264
1 c.431A>G r.(?) p.(His144Arg) g.71724600T>C Copied from the Exome Variant Server PHLPP2_000202 1/12996 0/8600 1/4396
1 c.456A>G r.(=) p.(=) g.71724575T>C Copied from the Exome Variant Server PHLPP2_000201 3/12996 0/8600 3/4396
1 c.546C>G r.(?) p.(Ile182Met) g.71724485G>C Copied from the Exome Variant Server PHLPP2_000200 1/12990 1/8594 0/4396
1 c.570A>C r.(?) p.(Gln190His) g.71724461T>G Copied from the Exome Variant Server PHLPP2_000199 23/12996 9/8600 14/4396
1 c.609+15G>A r.(=) p.(=) g.71724407C>T Copied from the Exome Variant Server PHLPP2_000198 9/12996 0/8600 9/4396
1 c.610-419_610-418insT r.(=) p.(=) g.71718922_71718923insA Copied from the Exome Variant Server PHLPP2_000197 1/5966 1/3994 0/1972
1 c.610-397G>A r.(=) p.(=) g.71718901C>T Copied from the Exome Variant Server PHLPP2_000196 1/4566 0/3182 1/1384
1 c.610-391A>G r.(=) p.(=) g.71718895T>C Copied from the Exome Variant Server PHLPP2_000195 18/4566 10/3182 8/1384
1 c.610-345A>G r.(=) p.(=) g.71718849T>C Copied from the Exome Variant Server PHLPP2_000194 2/4566 2/3182 0/1384
1 c.610-339G>C r.(=) p.(=) g.71718843C>G Copied from the Exome Variant Server PHLPP2_000193 1/4566 1/3182 0/1384
1 c.610-307C>T r.(=) p.(=) g.71718811G>A Copied from the Exome Variant Server PHLPP2_000192 1/4566 1/3182 0/1384
1 c.610-291C>T r.(=) p.(=) g.71718795G>A Copied from the Exome Variant Server PHLPP2_000191 1/4566 1/3182 0/1384
1 c.610-35del r.(=) p.(=) g.71718539del Copied from the Exome Variant Server PHLPP2_000190 1707/12498 1147/8242 560/4256
1 c.610-35dup r.(=) p.(=) g.71718539dup Copied from the Exome Variant Server PHLPP2_000189 357/12498 238/8242 119/4256
1 c.610-23T>C r.(=) p.(=) g.71718527A>G Copied from the Exome Variant Server PHLPP2_000188 1/12996 0/8600 1/4396
1 c.610A>G r.(?) p.(Ile204Val) g.71718504T>C Copied from the Exome Variant Server PHLPP2_000187 6/12996 6/8600 0/4396
1 c.626G>A r.(?) p.(Arg209Gln) g.71718488C>T Copied from the Exome Variant Server PHLPP2_000186 1/12996 0/8600 1/4396
1 c.685A>G r.(?) p.(Ser229Gly) g.71718429T>C Copied from the Exome Variant Server PHLPP2_000185 1/12996 0/8600 1/4396
1 c.711G>A r.(=) p.(=) g.71718403C>T Copied from the Exome Variant Server PHLPP2_000184 1/12996 1/8600 0/4396
1 c.726A>G r.(=) p.(=) g.71718388T>C Copied from the Exome Variant Server PHLPP2_000183 1/12996 0/8600 1/4396
1 c.735+13G>A r.(=) p.(=) g.71718366C>T Copied from the Exome Variant Server PHLPP2_000182 10917/12996 7215/8600 3702/4396
1 c.736-44A>G r.(=) p.(=) g.71715852T>C Copied from the Exome Variant Server PHLPP2_000181 6/12996 0/8600 6/4396
1 c.857T>C r.(?) p.(Leu286Ser) g.71715687A>G Copied from the Exome Variant Server PHLPP2_000180 1/12996 0/8600 1/4396
1 c.867C>T r.(=) p.(=) g.71715677G>A Copied from the Exome Variant Server PHLPP2_000179 1/12996 0/8600 1/4396
1 c.876C>T r.(=) p.(=) g.71715668G>A Copied from the Exome Variant Server PHLPP2_000178 1/12996 1/8600 0/4396
1 c.877G>C r.(?) p.(Asp293His) g.71715667C>G Copied from the Exome Variant Server PHLPP2_000177 2/12996 1/8600 1/4396
1 c.909C>T r.(=) p.(=) g.71713420G>A Copied from the Exome Variant Server PHLPP2_000176 62/12996 1/8600 61/4396
1 c.946A>G r.(?) p.(Ile316Val) g.71713383T>C Copied from the Exome Variant Server PHLPP2_000175 6/12996 0/8600 6/4396
1 c.970C>T r.(=) p.(=) g.71713359G>A Copied from the Exome Variant Server PHLPP2_000174 1/12996 0/8600 1/4396
1 c.974C>T r.(?) p.(Thr325Ile) g.71713355G>A Copied from the Exome Variant Server PHLPP2_000173 1/12996 1/8600 0/4396
1 c.981C>T r.(=) p.(=) g.71713348G>A Copied from the Exome Variant Server PHLPP2_000172 18/12996 17/8600 1/4396
1 c.983A>G r.(?) p.(Asn328Ser) g.71713346T>C Copied from the Exome Variant Server PHLPP2_000171 1/12996 1/8600 0/4396
1 c.1018C>G r.(?) p.(Gln340Glu) g.71713311G>C Copied from the Exome Variant Server PHLPP2_000170 1/12996 1/8600 0/4396
1 c.1028A>G r.(?) p.(Asn343Ser) g.71713301T>C Copied from the Exome Variant Server PHLPP2_000169 1/12996 1/8600 0/4396
1 c.1037+16T>G r.(=) p.(=) g.71713276A>C Copied from the Exome Variant Server PHLPP2_000168 2/12996 2/8600 0/4396
1 c.1038-4A>G r.spl? p.? g.71712892T>C Copied from the Exome Variant Server PHLPP2_000167 2/12984 1/8596 1/4388
1 c.1096A>G r.(?) p.(Asn366Asp) g.71712830T>C Copied from the Exome Variant Server PHLPP2_000166 1/12996 0/8600 1/4396
1 c.1140T>C r.(=) p.(=) g.71712786A>G Copied from the Exome Variant Server PHLPP2_000165 1164/12996 1052/8600 112/4396
1 c.1174A>G r.(?) p.(Met392Val) g.71712752T>C Copied from the Exome Variant Server PHLPP2_000164 1/12996 1/8600 0/4396
1 c.1236T>C r.(=) p.(=) g.71712690A>G Copied from the Exome Variant Server PHLPP2_000163 10/12996 8/8600 2/4396
1 c.1268+47A>G r.(=) p.(=) g.71712611T>C Copied from the Exome Variant Server PHLPP2_000162 1/12996 1/8600 0/4396
1 c.1268+49del r.(=) p.(=) g.71712609del Copied from the Exome Variant Server PHLPP2_000161 1/12516 1/8254 0/4262
1 c.1269-37_1269-36del r.(=) p.(=) g.71710588_71710589del Copied from the Exome Variant Server PHLPP2_000160 48/12514 44/8250 4/4264
1 c.1269-33T>C r.(=) p.(=) g.71710585A>G Copied from the Exome Variant Server PHLPP2_000159 1/12996 1/8600 0/4396
1 c.1269-16G>A r.(=) p.(=) g.71710568C>T Copied from the Exome Variant Server PHLPP2_000158 13/12996 0/8600 13/4396
1 c.1269-8G>A r.(=) p.(=) g.71710560C>T Copied from the Exome Variant Server PHLPP2_000157 1/12996 1/8600 0/4396
1 c.1274A>C r.(?) p.(Asn425Thr) g.71710547T>G Copied from the Exome Variant Server PHLPP2_000156 1/12996 0/8600 1/4396
1 c.1275C>T r.(=) p.(=) g.71710546G>A Copied from the Exome Variant Server PHLPP2_000155 1/12996 0/8600 1/4396
1 c.1305G>C r.(=) p.(=) g.71710516C>G Copied from the Exome Variant Server PHLPP2_000154 1/12996 0/8600 1/4396
1 c.1349G>T r.(?) p.(Arg450Leu) g.71710472C>A Copied from the Exome Variant Server PHLPP2_000153 1/12996 1/8600 0/4396
1 c.1378T>C r.(?) p.(Cys460Arg) g.71710443A>G Copied from the Exome Variant Server PHLPP2_000152 1/12996 1/8600 0/4396
1 c.1393C>T r.(=) p.(=) g.71710428G>A Copied from the Exome Variant Server PHLPP2_000151 606/12996 562/8600 44/4396
1 c.1405C>A r.(=) p.(=) g.71710416G>T Copied from the Exome Variant Server PHLPP2_000150 1/12996 0/8600 1/4396
1 c.1427C>T r.(?) p.(Thr476Ile) g.71710394G>A Copied from the Exome Variant Server PHLPP2_000149 2/12996 0/8600 2/4396
1 c.1437C>A r.(=) p.(=) g.71710384G>T Copied from the Exome Variant Server PHLPP2_000148 1/12996 1/8600 0/4396
1 c.1447C>T r.(?) p.(Arg483Trp) g.71710374G>A Copied from the Exome Variant Server PHLPP2_000147 1/12996 0/8600 1/4396
1 c.1471+47C>G r.(=) p.(=) g.71710303G>C Copied from the Exome Variant Server PHLPP2_000146 2/12992 0/8598 2/4394
1 c.1471+51G>A r.(=) p.(=) g.71710299C>T Copied from the Exome Variant Server PHLPP2_000145 2/12992 2/8598 0/4394
1 c.1472-57T>C r.(=) p.(=) g.71706282A>G Copied from the Exome Variant Server PHLPP2_000144 1/4566 0/3182 1/1384
1 c.1472-26C>G r.(=) p.(=) g.71706251G>C Copied from the Exome Variant Server PHLPP2_000143 1/12996 1/8600 0/4396
1 c.1482A>G r.(=) p.(=) g.71706215T>C Copied from the Exome Variant Server PHLPP2_000142 2/12996 2/8600 0/4396
1 c.1488C>T r.(=) p.(=) g.71706209G>A Copied from the Exome Variant Server PHLPP2_000141 1/12996 1/8600 0/4396
1 c.1507C>G r.(?) p.(Leu503Val) g.71706190G>C Copied from the Exome Variant Server PHLPP2_000140 1/12996 1/8600 0/4396
1 c.1532G>A r.(?) p.(Arg511Gln) g.71706165C>T Copied from the Exome Variant Server PHLPP2_000139 1/12996 1/8600 0/4396
1 c.1532+59_1532+60insGTGGAT r.(=) p.(=) g.71706105_71706106insATCCAC Copied from the Exome Variant Server PHLPP2_000138 37/12512 2/8254 35/4258
1 c.1533-46C>T r.(=) p.(=) g.71703319G>A Copied from the Exome Variant Server PHLPP2_000137 1/12996 0/8600 1/4396
1 c.1533-15A>G r.(=) p.(=) g.71703288T>C Copied from the Exome Variant Server PHLPP2_000136 2/12996 1/8600 1/4396
1 c.1533-14T>C r.(=) p.(=) g.71703287A>G Copied from the Exome Variant Server PHLPP2_000135 1/12996 0/8600 1/4396
1 c.1533-7T>C r.(=) p.(=) g.71703280A>G Copied from the Exome Variant Server PHLPP2_000134 4/12996 4/8600 0/4396
1 c.1542A>G r.(=) p.(=) g.71703264T>C Copied from the Exome Variant Server PHLPP2_000133 8/12996 6/8600 2/4396
1 c.1554T>C r.(=) p.(=) g.71703252A>G Copied from the Exome Variant Server PHLPP2_000132 536/12996 8/8600 528/4396
1 c.1564T>C r.(?) p.(Cys522Arg) g.71703242A>G Copied from the Exome Variant Server PHLPP2_000131 1/12996 0/8600 1/4396
1 c.1578G>C r.(?) p.(Lys526Asn) g.71703228C>G Copied from the Exome Variant Server PHLPP2_000130 1/12996 1/8600 0/4396
1 c.1597A>C r.(?) p.(Ser533Arg) g.71703209T>G Copied from the Exome Variant Server PHLPP2_000129 16/12996 0/8600 16/4396
1 c.1601A>G r.(?) p.(Tyr534Cys) g.71703205T>C Copied from the Exome Variant Server PHLPP2_000128 49/12996 42/8600 7/4396
1 c.1628+32A>G r.(=) p.(=) g.71703146T>C Copied from the Exome Variant Server PHLPP2_000127 1/12996 0/8600 1/4396
1 c.1628+46G>A r.(=) p.(=) g.71703132C>T Copied from the Exome Variant Server PHLPP2_000126 1/12996 1/8600 0/4396
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