Unique variants in gene PITPNM2

Information The variants shown are described using the NM_020845.2 transcript reference sequence.

238 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.-36G>C r.(=) p.(=) g.123519173C>G Copied from the Exome Variant Server PITPNM2_000238 1/13006 1/8600 0/4406
1 c.-35C>G r.(=) p.(=) g.123519172G>C Copied from the Exome Variant Server PITPNM2_000237 219/13006 198/8600 21/4406
1 c.-23G>A r.(=) p.(=) g.123519160C>T Copied from the Exome Variant Server PITPNM2_000236 2/13006 1/8600 1/4406
1 c.-10G>A r.(=) p.(=) g.123519147C>T Copied from the Exome Variant Server PITPNM2_000235 1/13006 0/8600 1/4406
1 c.26C>T r.(?) p.(Pro9Leu) g.123519112G>A Copied from the Exome Variant Server PITPNM2_000234 207/13006 190/8600 17/4406
1 c.39C>T r.(=) p.(=) g.123519099G>A Copied from the Exome Variant Server PITPNM2_000233 1/13006 0/8600 1/4406
1 c.40G>T r.(?) p.(Val14Leu) g.123519098C>A Copied from the Exome Variant Server PITPNM2_000232 1/13006 0/8600 1/4406
1 c.52C>T r.(?) p.(Arg18Cys) g.123519086G>A Copied from the Exome Variant Server PITPNM2_000231 1/13006 1/8600 0/4406
1 c.57C>T r.(=) p.(=) g.123519081G>A Copied from the Exome Variant Server PITPNM2_000230 8/13006 0/8600 8/4406
1 c.78+8G>A r.(=) p.(=) g.123519052C>T Copied from the Exome Variant Server PITPNM2_000229 1/13006 0/8600 1/4406
1 c.78+44G>A r.(=) p.(=) g.123519016C>T Copied from the Exome Variant Server PITPNM2_000228 1/13006 1/8600 0/4406
1 c.78+46G>A r.(=) p.(=) g.123519014C>T Copied from the Exome Variant Server PITPNM2_000227 16/13006 7/8600 9/4406
1 c.79-30del r.(=) p.(=) g.123498619del Copied from the Exome Variant Server PITPNM2_000226 1/12518 1/8254 0/4264
1 c.79-24T>C r.(=) p.(=) g.123498613A>G Copied from the Exome Variant Server PITPNM2_000225 4/13006 0/8600 4/4406
1 c.100T>A r.(?) p.(Tyr34Asn) g.123498568A>T Copied from the Exome Variant Server PITPNM2_000224 1/13006 1/8600 0/4406
1 c.115G>A r.(?) p.(Gly39Ser) g.123498553C>T Copied from the Exome Variant Server PITPNM2_000223 1/13006 0/8600 1/4406
1 c.118G>A r.(?) p.(Val40Met) g.123498550C>T Copied from the Exome Variant Server PITPNM2_000222 2/13006 1/8600 1/4406
1 c.141G>A r.(=) p.(=) g.123498527C>T Copied from the Exome Variant Server PITPNM2_000221 1/13006 1/8600 0/4406
1 c.241G>A r.(?) p.(Ala81Thr) g.123498427C>T Copied from the Exome Variant Server PITPNM2_000220 1/13006 1/8600 0/4406
1 c.293+24T>A r.(=) p.(=) g.123498351A>T Copied from the Exome Variant Server PITPNM2_000219 2/13006 2/8600 0/4406
1 c.293+40A>G r.(=) p.(=) g.123498335T>C Copied from the Exome Variant Server PITPNM2_000218 1/13006 0/8600 1/4406
1 c.293+52G>A r.(=) p.(=) g.123498323C>T Copied from the Exome Variant Server PITPNM2_000217 1/5734 1/3982 0/1752
1 c.294-17C>T r.(=) p.(=) g.123497298G>A Copied from the Exome Variant Server PITPNM2_000216 1/13006 1/8600 0/4406
1 c.294-7C>T r.(=) p.(=) g.123497288G>A Copied from the Exome Variant Server PITPNM2_000215 5/13006 5/8600 0/4406
1 c.353A>G r.(?) p.(Asp118Gly) g.123497222T>C Copied from the Exome Variant Server PITPNM2_000214 1/13006 0/8600 1/4406
1 c.415+25C>T r.(=) p.(=) g.123497135G>A Copied from the Exome Variant Server PITPNM2_000213 29/13006 29/8600 0/4406
1 c.416-33del r.(=) p.(=) g.123494657del Copied from the Exome Variant Server PITPNM2_000212 4/12518 1/8254 3/4264
1 c.416-14G>T r.(=) p.(=) g.123494638C>A Copied from the Exome Variant Server PITPNM2_000211 1/13006 0/8600 1/4406
1 c.423C>A r.(=) p.(=) g.123494617G>T Copied from the Exome Variant Server PITPNM2_000210 1/13006 1/8600 0/4406
1 c.453C>T r.(=) p.(=) g.123494587G>A Copied from the Exome Variant Server PITPNM2_000209 1/13006 1/8600 0/4406
1 c.468A>G r.(=) p.(=) g.123494572T>C Copied from the Exome Variant Server PITPNM2_000208 1/13006 1/8600 0/4406
1 c.488A>T r.(?) p.(Gln163Leu) g.123494552T>A Copied from the Exome Variant Server PITPNM2_000207 1/13006 1/8600 0/4406
1 c.513C>T r.(=) p.(=) g.123494527G>A Copied from the Exome Variant Server PITPNM2_000206 1/13006 1/8600 0/4406
1 c.520G>A r.(?) p.(Glu174Lys) g.123494520C>T Copied from the Exome Variant Server PITPNM2_000205 2/13006 1/8600 1/4406
1 c.525C>T r.(=) p.(=) g.123494515G>A Copied from the Exome Variant Server PITPNM2_000204 1/13006 1/8600 0/4406
1 c.552C>A r.(=) p.(=) g.123494488G>T Copied from the Exome Variant Server PITPNM2_000202 1/13006 1/8600 0/4406
1 c.621C>T r.(=) p.(=) g.123494419G>A Copied from the Exome Variant Server PITPNM2_000200 2/13006 2/8600 0/4406
1 c.642C>T r.(=) p.(=) g.123494398G>A Copied from the Exome Variant Server PITPNM2_000198 7/13006 6/8600 1/4406
1 c.643+35G>A r.(=) p.(=) g.123494362C>T Copied from the Exome Variant Server PITPNM2_000196 5/13006 0/8600 5/4406
1 c.644-50G>A r.(=) p.(=) g.123490145C>T Copied from the Exome Variant Server PITPNM2_000194 1/13006 0/8600 1/4406
1 c.644-32G>A r.(=) p.(=) g.123490127C>T Copied from the Exome Variant Server PITPNM2_000203 231/13006 95/8600 136/4406
1 c.697G>A r.(?) p.(Glu233Lys) g.123490042C>T Copied from the Exome Variant Server PITPNM2_000201 1/13006 1/8600 0/4406
1 c.704A>G r.(?) p.(Tyr235Cys) g.123490035T>C Copied from the Exome Variant Server PITPNM2_000199 1/13006 0/8600 1/4406
1 c.764G>A r.(?) p.(Arg255His) g.123489975C>T Copied from the Exome Variant Server PITPNM2_000197 2/13006 1/8600 1/4406
1 c.803C>T r.(?) p.(Thr268Ile) g.123489936G>A Copied from the Exome Variant Server PITPNM2_000195 1/13006 1/8600 0/4406
1 c.808C>T r.(?) p.(Leu270Phe) g.123489931G>A Copied from the Exome Variant Server PITPNM2_000193 1/13006 1/8600 0/4406
1 c.811G>A r.(?) p.(Val271Ile) g.123489928C>T Copied from the Exome Variant Server PITPNM2_000192 1/13006 0/8600 1/4406
1 c.812T>A r.(?) p.(Val271Asp) g.123489927A>T Copied from the Exome Variant Server PITPNM2_000191 1/13006 0/8600 1/4406
1 c.819C>G r.(?) p.(His273Gln) g.123489920G>C Copied from the Exome Variant Server PITPNM2_000190 1/13006 1/8600 0/4406
1 c.825C>T r.(=) p.(=) g.123489914G>A Copied from the Exome Variant Server PITPNM2_000189 1/13006 1/8600 0/4406
1 c.882C>T r.(=) p.(=) g.123489857G>A Copied from the Exome Variant Server PITPNM2_000188 1/13006 0/8600 1/4406
1 c.892C>T r.(?) p.(Arg298Cys) g.123489847G>A Copied from the Exome Variant Server PITPNM2_000187 5/13006 5/8600 0/4406
1 c.893G>A r.(?) p.(Arg298His) g.123489846C>T Copied from the Exome Variant Server PITPNM2_000186 2/13006 0/8600 2/4406
1 c.926A>T r.(?) p.(Lys309Met) g.123489813T>A Copied from the Exome Variant Server PITPNM2_000185 1/13006 1/8600 0/4406
1 c.934C>T r.(?) p.(Arg312Trp) g.123489805G>A Copied from the Exome Variant Server PITPNM2_000184 1/13006 1/8600 0/4406
1 c.939G>A r.(=) p.(=) g.123489800C>T Copied from the Exome Variant Server PITPNM2_000183 5/13006 4/8600 1/4406
1 c.947G>A r.(?) p.(Arg316Gln) g.123489792C>T Copied from the Exome Variant Server PITPNM2_000182 1/13006 1/8600 0/4406
1 c.952+12C>T r.(=) p.(=) g.123489775G>A Copied from the Exome Variant Server PITPNM2_000181 1/13006 1/8600 0/4406
1 c.953-32G>C r.(=) p.(=) g.123489068C>G Copied from the Exome Variant Server PITPNM2_000180 1/13006 1/8600 0/4406
1 c.953-31T>C r.(=) p.(=) g.123489067A>G Copied from the Exome Variant Server PITPNM2_000179 1/13006 1/8600 0/4406
1 c.953-28G>T r.(=) p.(=) g.123489064C>A Copied from the Exome Variant Server PITPNM2_000178 3/13006 3/8600 0/4406
1 c.953-26G>A r.(=) p.(=) g.123489062C>T Copied from the Exome Variant Server PITPNM2_000177 2/13006 0/8600 2/4406
1 c.953C>T r.(?) p.(Ala318Val) g.123489036G>A Copied from the Exome Variant Server PITPNM2_000176 1/13006 1/8600 0/4406
1 c.965G>A r.(?) p.(Arg322His) g.123489024C>T Copied from the Exome Variant Server PITPNM2_000175 2/13006 2/8600 0/4406
1 c.1011G>A r.(=) p.(=) g.123488978C>T Copied from the Exome Variant Server PITPNM2_000174 1/13006 1/8600 0/4406
1 c.1048+6C>T r.(=) p.(=) g.123488935G>A Copied from the Exome Variant Server PITPNM2_000173 1/13006 1/8600 0/4406
1 c.1048+8G>A r.(=) p.(=) g.123488933C>T Copied from the Exome Variant Server PITPNM2_000172 14/13006 0/8600 14/4406
1 c.1048+13C>T r.(=) p.(=) g.123488928G>A Copied from the Exome Variant Server PITPNM2_000171 20/13006 1/8600 19/4406
1 c.1048+29G>A r.(=) p.(=) g.123488912C>T Copied from the Exome Variant Server PITPNM2_000170 1/13006 1/8600 0/4406
1 c.1048+33C>T r.(=) p.(=) g.123488908G>A Copied from the Exome Variant Server PITPNM2_000169 221/13006 203/8600 18/4406
1 c.1048+41G>A r.(=) p.(=) g.123488900C>T Copied from the Exome Variant Server PITPNM2_000168 1/13006 0/8600 1/4406
1 c.1048+43G>A r.(=) p.(=) g.123488898C>T Copied from the Exome Variant Server PITPNM2_000167 1/13006 0/8600 1/4406
1 c.1049-16C>T r.(=) p.(=) g.123485721G>A Copied from the Exome Variant Server PITPNM2_000166 1/13006 0/8600 1/4406
1 c.1060G>A r.(?) p.(Asp354Asn) g.123485694C>T Copied from the Exome Variant Server PITPNM2_000165 1/13006 0/8600 1/4406
1 c.1140G>A r.(=) p.(=) g.123485614C>T Copied from the Exome Variant Server PITPNM2_000164 6/13006 4/8600 2/4406
1 c.1153+13G>C r.(=) p.(=) g.123485588C>G Copied from the Exome Variant Server PITPNM2_000163 61/13006 0/8600 61/4406
1 c.1153+17del r.(=) p.(=) g.123485584del Copied from the Exome Variant Server PITPNM2_000162 30/12518 23/8254 7/4264
1 c.1153+39C>T r.(=) p.(=) g.123485562G>A Copied from the Exome Variant Server PITPNM2_000161 21/13006 0/8600 21/4406
1 c.1154-53C>T r.(=) p.(=) g.123485448G>A Copied from the Exome Variant Server PITPNM2_000160 1/4566 1/3182 0/1384
1 c.1154-14C>A r.(=) p.(=) g.123485409G>T Copied from the Exome Variant Server PITPNM2_000159 1/13006 0/8600 1/4406
1 c.1154-10_1154-9del r.(=) p.(=) g.123485404_123485405del Copied from the Exome Variant Server PITPNM2_000158 14/12518 0/8254 14/4264
1 c.1224+38G>A r.(=) p.(=) g.123485287C>T Copied from the Exome Variant Server PITPNM2_000157 1/13006 1/8600 0/4406
1 c.1224+50G>A r.(=) p.(=) g.123485275C>T Copied from the Exome Variant Server PITPNM2_000156 2/13006 1/8600 1/4406
1 c.1225-19T>C r.(=) p.(=) g.123482138A>G Copied from the Exome Variant Server PITPNM2_000155 2/13006 2/8600 0/4406
1 c.1225-5T>C r.spl? p.? g.123482124A>G Copied from the Exome Variant Server PITPNM2_000154 9/13006 0/8600 9/4406
1 c.1227C>T r.(=) p.(=) g.123482117G>A Copied from the Exome Variant Server PITPNM2_000153 1/13006 0/8600 1/4406
1 c.1241C>T r.(?) p.(Pro414Leu) g.123482103G>A Copied from the Exome Variant Server PITPNM2_000152 1/13006 1/8600 0/4406
1 c.1254G>A r.(=) p.(=) g.123482090C>T Copied from the Exome Variant Server PITPNM2_000151 1/13006 1/8600 0/4406
1 c.1270G>A r.(?) p.(Val424Met) g.123482074C>T Copied from the Exome Variant Server PITPNM2_000150 1/13006 1/8600 0/4406
1 c.1279C>T r.(=) p.(=) g.123482065G>A Copied from the Exome Variant Server PITPNM2_000149 640/13006 11/8600 629/4406
1 c.1290C>T r.(=) p.(=) g.123482054G>A Copied from the Exome Variant Server PITPNM2_000148 18/13006 15/8600 3/4406
1 c.1314C>T r.(=) p.(=) g.123482030G>A Copied from the Exome Variant Server PITPNM2_000147 2/13006 2/8600 0/4406
1 c.1317C>T r.(=) p.(=) g.123482027G>A Copied from the Exome Variant Server PITPNM2_000146 1/13006 1/8600 0/4406
1 c.1325C>T r.(?) p.(Pro442Leu) g.123482019G>A Copied from the Exome Variant Server PITPNM2_000145 1/13006 1/8600 0/4406
1 c.1357G>A r.(?) p.(Ala453Thr) g.123481987C>T Copied from the Exome Variant Server PITPNM2_000144 2/13006 2/8600 0/4406
1 c.1362C>T r.(=) p.(=) g.123481982G>A Copied from the Exome Variant Server PITPNM2_000143 6/13006 6/8600 0/4406
1 c.1375G>A r.(?) p.(Val459Ile) g.123481969C>T Copied from the Exome Variant Server PITPNM2_000142 1/13006 1/8600 0/4406
1 c.1382G>A r.(?) p.(Arg461His) g.123481962C>T Copied from the Exome Variant Server PITPNM2_000141 1/13006 1/8600 0/4406
1 c.1383C>T r.(=) p.(=) g.123481961G>A Copied from the Exome Variant Server PITPNM2_000140 2/13006 1/8600 1/4406
1 c.1437G>A r.(=) p.(=) g.123481907C>T Copied from the Exome Variant Server PITPNM2_000139 1/13004 0/8600 1/4404
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