All transcript variants in gene MED13L

Information The variants shown are described using the NM_015335.4 transcript reference sequence.

293 entries on 3 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.-14G>A r.(=) p.(=) g.116714950C>T Copied from the Exome Variant Server MED13L_000293 1/11960 1/7958 0/4002
?/? c.40C>T r.(=) p.(=) g.116714897G>A Copied from the Exome Variant Server MED13L_000292 5/12608 0/8354 5/4254
?/? c.72+49del r.(=) p.(=) g.116714816del Copied from the Exome Variant Server MED13L_000291 523/8358 330/5624 193/2734
?/? c.72+49dup r.(=) p.(=) g.116714816dup Copied from the Exome Variant Server MED13L_000290 838/8358 687/5624 151/2734
?/? c.73-27C>T r.(=) p.(=) g.116675537G>A Copied from the Exome Variant Server MED13L_000289 1/13006 0/8600 1/4406
?/? c.73-19A>T r.(=) p.(=) g.116675529T>A Copied from the Exome Variant Server MED13L_000288 3/13006 0/8600 3/4406
?/? c.73-9_73-8insCT r.(=) p.(=) g.116675518_116675519insAG Copied from the Exome Variant Server MED13L_000287 3/12518 3/8254 0/4264
?/? c.73-7T>C r.(=) p.(=) g.116675517A>G Copied from the Exome Variant Server MED13L_000286 2/13006 0/8600 2/4406
?/? c.92A>G r.(?) p.(Lys31Arg) g.116675491T>C Copied from the Exome Variant Server MED13L_000285 1/13006 1/8600 0/4406
?/? c.107A>G r.(?) p.(Asn36Ser) g.116675476T>C Copied from the Exome Variant Server MED13L_000284 1/13006 1/8600 0/4406
?/? c.115G>C r.(?) p.(Gly39Arg) g.116675468C>G Copied from the Exome Variant Server MED13L_000283 1/13006 0/8600 1/4406
?/? c.201C>T r.(=) p.(=) g.116675382G>A Copied from the Exome Variant Server MED13L_000282 4/13006 0/8600 4/4406
?/? c.230A>G r.(?) p.(Lys77Arg) g.116675353T>C Copied from the Exome Variant Server MED13L_000281 1/13006 1/8600 0/4406
?/? c.249A>G r.(=) p.(=) g.116675334T>C Copied from the Exome Variant Server MED13L_000280 1/13006 0/8600 1/4406
?/? c.297T>C r.(=) p.(=) g.116675286A>G Copied from the Exome Variant Server MED13L_000279 1/13006 1/8600 0/4406
?/? c.311-37120_311-37117del N/A N/A g.116586434_116586437del Copied from the Exome Variant Server MED13L_000278 2213/6708 1472/4456 741/2252
?/? c.311-37067G>C N/A N/A g.116586384C>G Copied from the Exome Variant Server MED13L_000277 1/10236 1/7122 0/3114
?/? c.311-37022A>G r.(=) p.(=) g.116586339T>C Copied from the Exome Variant Server MED13L_000276 1/10272 1/7146 0/3126
?/? c.311-36983A>G r.(=) p.(=) g.116586300T>C Copied from the Exome Variant Server MED13L_000275 59/4502 0/3122 59/1380
?/? c.311-35G>C r.(=) p.(=) g.116549352C>G Copied from the Exome Variant Server MED13L_000274 1/12996 0/8596 1/4400
?/? c.311-22_311-21insT r.(=) p.(=) g.116549338_116549339insA Copied from the Exome Variant Server MED13L_000273 397/12500 288/8252 109/4248
?/? c.311-22_311-21insTT r.(=) p.(=) g.116549338_116549339insAA Copied from the Exome Variant Server MED13L_000272 43/12500 19/8252 24/4248
?/? c.311-14C>T r.(=) p.(=) g.116549331G>A Copied from the Exome Variant Server MED13L_000271 9/13002 6/8600 3/4402
?/? c.381C>T r.(=) p.(=) g.116549247G>A Copied from the Exome Variant Server MED13L_000270 1/13006 0/8600 1/4406
?/? c.395+18A>G r.(=) p.(=) g.116549215T>C Copied from the Exome Variant Server MED13L_000269 2/13006 2/8600 0/4406
?/? c.395+26G>A r.(=) p.(=) g.116549207C>T Copied from the Exome Variant Server MED13L_000268 1/13006 1/8600 0/4406
?/? c.395+57C>A r.(=) p.(=) g.116549176G>T Copied from the Exome Variant Server MED13L_000267 1/4566 0/3182 1/1384
?/? c.395+59G>A r.(=) p.(=) g.116549174C>T Copied from the Exome Variant Server MED13L_000266 21/4566 20/3182 1/1384
?/? c.396-57C>T r.(=) p.(=) g.116534614G>A Copied from the Exome Variant Server MED13L_000265 1/4566 0/3182 1/1384
?/? c.396-41T>C r.(=) p.(=) g.116534598A>G Copied from the Exome Variant Server MED13L_000264 2/13006 2/8600 0/4406
?/? c.409A>G r.(?) p.(Lys137Glu) g.116534544T>C Copied from the Exome Variant Server MED13L_000263 1/13006 1/8600 0/4406
?/? c.418G>A r.(?) p.(Val140Ile) g.116534535C>T Copied from the Exome Variant Server MED13L_000262 1/13006 1/8600 0/4406
?/? c.479+35C>T r.(=) p.(=) g.116534439G>A Copied from the Exome Variant Server MED13L_000261 69/13006 2/8600 67/4406
?/? c.479+47G>A r.(=) p.(=) g.116534427C>T Copied from the Exome Variant Server MED13L_000260 2/13006 0/8600 2/4406
?/? c.480-26T>C r.(=) p.(=) g.116460432A>G Copied from the Exome Variant Server MED13L_000259 1/13004 1/8600 0/4404
?/? c.564A>G r.(=) p.(=) g.116460322T>C Copied from the Exome Variant Server MED13L_000258 1/13006 0/8600 1/4406
?/? c.573G>C r.(?) p.(Leu191Phe) g.116460313C>G Copied from the Exome Variant Server MED13L_000257 3/13006 3/8600 0/4406
?/? c.579T>C r.(=) p.(=) g.116460307A>G Copied from the Exome Variant Server MED13L_000256 486/13006 6/8600 480/4406
?/? c.583G>A r.(?) p.(Glu195Lys) g.116460303C>T Copied from the Exome Variant Server MED13L_000255 1/13006 0/8600 1/4406
?/? c.625+30del r.(=) p.(=) g.116460231del Copied from the Exome Variant Server MED13L_000254 5/12518 3/8254 2/4264
?/? c.625+41C>T r.(=) p.(=) g.116460220G>A Copied from the Exome Variant Server MED13L_000253 155/13006 15/8600 140/4406
?/? c.626-27A>C r.(=) p.(=) g.116457804T>G Copied from the Exome Variant Server MED13L_000252 1119/13006 994/8600 125/4406
?/? c.636T>C r.(=) p.(=) g.116457767A>G Copied from the Exome Variant Server MED13L_000251 1/13006 1/8600 0/4406
?/? c.656C>T r.(?) p.(Thr219Met) g.116457747G>A Copied from the Exome Variant Server MED13L_000250 1/13006 1/8600 0/4406
?/? c.771C>T r.(=) p.(=) g.116457632G>A Copied from the Exome Variant Server MED13L_000249 8/13006 0/8600 8/4406
?/? c.820+44C>G r.(=) p.(=) g.116457539G>C Copied from the Exome Variant Server MED13L_000248 1/13006 1/8600 0/4406
?/? c.821-25C>G r.(=) p.(=) g.116457242G>C Copied from the Exome Variant Server MED13L_000247 1/13006 1/8600 0/4406
?/? c.867G>C r.(?) p.(Gln289His) g.116457171C>G Copied from the Exome Variant Server MED13L_000246 1/13006 0/8600 1/4406
?/? c.879G>A r.(=) p.(=) g.116457159C>T Copied from the Exome Variant Server MED13L_000245 1/13006 1/8600 0/4406
?/? c.937G>A r.(?) p.(Gly313Ser) g.116457101C>T Copied from the Exome Variant Server MED13L_000244 1/13006 0/8600 1/4406
?/? c.948G>A r.(=) p.(=) g.116457090C>T Copied from the Exome Variant Server MED13L_000243 143/13006 130/8600 13/4406
?/? c.969G>A r.(?) p.(Met323Ile) g.116457069C>T Copied from the Exome Variant Server MED13L_000242 2/13006 0/8600 2/4406
?/? c.1005C>T r.(=) p.(=) g.116457033G>A Copied from the Exome Variant Server MED13L_000241 2/13006 0/8600 2/4406
?/? c.1008A>C r.(=) p.(=) g.116457030T>G Copied from the Exome Variant Server MED13L_000240 14/13006 0/8600 14/4406
?/? c.1009+12C>G r.(=) p.(=) g.116457017G>C Copied from the Exome Variant Server MED13L_000239 99/13006 1/8600 98/4406
?/? c.1009+38C>T r.(=) p.(=) g.116456991G>A Copied from the Exome Variant Server MED13L_000238 1/13004 0/8600 1/4404
?/? c.1009+46A>G r.(=) p.(=) g.116456983T>C Copied from the Exome Variant Server MED13L_000237 1/13002 1/8598 0/4404
?/? c.1009+49G>A r.(=) p.(=) g.116456980C>T Copied from the Exome Variant Server MED13L_000236 1/13002 1/8598 0/4404
?/? c.1009+51A>G r.(=) p.(=) g.116456978T>C Copied from the Exome Variant Server MED13L_000235 1/13002 0/8598 1/4404
?/? c.1010-51T>C r.(=) p.(=) g.116453130A>G Copied from the Exome Variant Server MED13L_000234 2/13002 0/8596 2/4406
?/? c.1010-32A>G r.(=) p.(=) g.116453111T>C Copied from the Exome Variant Server MED13L_000233 49/13004 1/8598 48/4406
?/? c.1010-17A>G r.(=) p.(=) g.116453096T>C Copied from the Exome Variant Server MED13L_000232 1/13004 1/8598 0/4406
?/? c.1010-14G>A r.(=) p.(=) g.116453093C>T Copied from the Exome Variant Server MED13L_000231 9/13006 8/8600 1/4406
?/? c.1073C>T r.(?) p.(Thr358Met) g.116453016G>A Copied from the Exome Variant Server MED13L_000230 1/13006 0/8600 1/4406
?/? c.1092A>G r.(=) p.(=) g.116452997T>C Copied from the Exome Variant Server MED13L_000229 1/13006 0/8600 1/4406
?/? c.1094C>T r.(?) p.(Ser365Leu) g.116452995G>A Copied from the Exome Variant Server MED13L_000228 1/13006 0/8600 1/4406
?/? c.1095G>A r.(=) p.(=) g.116452994C>T Copied from the Exome Variant Server MED13L_000227 30/13006 0/8600 30/4406
?/? c.1114C>T r.(?) p.(Leu372Phe) g.116452975G>A Copied from the Exome Variant Server MED13L_000226 1/13006 1/8600 0/4406
?/? c.1124A>G r.(?) p.(His375Arg) g.116452965T>C Copied from the Exome Variant Server MED13L_000225 1/13006 1/8600 0/4406
?/? c.1145A>T r.(?) p.(Lys382Met) g.116452944T>A Copied from the Exome Variant Server MED13L_000224 1/13006 1/8600 0/4406
?/? c.1158C>T r.(=) p.(=) g.116452931G>A Copied from the Exome Variant Server MED13L_000223 1/13006 1/8600 0/4406
?/? c.1175+11T>C r.(=) p.(=) g.116452903A>G Copied from the Exome Variant Server MED13L_000222 1/13006 1/8600 0/4406
?/? c.1176-35T>A r.(=) p.(=) g.116450741A>T Copied from the Exome Variant Server MED13L_000221 1/13006 1/8600 0/4406
?/? c.1185A>C r.(?) p.(Gln395His) g.116450697T>G Copied from the Exome Variant Server MED13L_000220 1/13006 0/8600 1/4406
?/? c.1198A>G r.(?) p.(Thr400Ala) g.116450684T>C Copied from the Exome Variant Server MED13L_000219 2/13006 1/8600 1/4406
?/? c.1215T>G r.(=) p.(=) g.116450667A>C Copied from the Exome Variant Server MED13L_000218 34/13006 2/8600 32/4406
?/? c.1223A>G r.(?) p.(Asn408Ser) g.116450659T>C Copied from the Exome Variant Server MED13L_000217 2/13006 2/8600 0/4406
?/? c.1280+44C>T r.(=) p.(=) g.116450558G>A Copied from the Exome Variant Server MED13L_000216 1/13006 1/8600 0/4406
?/? c.1280+45G>A r.(=) p.(=) g.116450557C>T Copied from the Exome Variant Server MED13L_000215 2/13006 2/8600 0/4406
?/? c.1281-47C>G r.(=) p.(=) g.116446984G>C Copied from the Exome Variant Server MED13L_000214 1/12570 1/8438 0/4132
?/? c.1281-30del r.(=) p.(=) g.116446967del Copied from the Exome Variant Server MED13L_000213 3/12336 2/8178 1/4158
?/? c.1281-23G>A r.(=) p.(=) g.116446960C>T Copied from the Exome Variant Server MED13L_000212 1/12920 1/8564 0/4356
?/? c.1283A>G r.(?) p.(His428Arg) g.116446935T>C Copied from the Exome Variant Server MED13L_000211 7/13004 7/8600 0/4404
?/? c.1300_1302del r.(?) p.(Cys434del) g.116446916_116446918del Copied from the Exome Variant Server MED13L_000210 1/12516 0/8252 1/4264
?/? c.1308C>T r.(=) p.(=) g.116446910G>A Copied from the Exome Variant Server MED13L_000209 2/13006 1/8600 1/4406
?/? c.1316A>G r.(?) p.(Asn439Ser) g.116446902T>C Copied from the Exome Variant Server MED13L_000208 3/13006 0/8600 3/4406
?/? c.1404A>G r.(=) p.(=) g.116446814T>C Copied from the Exome Variant Server MED13L_000207 1/13006 0/8600 1/4406
?/? c.1554G>C r.(?) p.(Glu518Asp) g.116446664C>G Copied from the Exome Variant Server MED13L_000206 1/13006 0/8600 1/4406
?/? c.1584A>G r.(=) p.(=) g.116446634T>C Copied from the Exome Variant Server MED13L_000205 1/13006 0/8600 1/4406
?/? c.1590C>T r.(=) p.(=) g.116446628G>A Copied from the Exome Variant Server MED13L_000204 96/13006 1/8600 95/4406
?/? c.1591G>A r.(?) p.(Val531Met) g.116446627C>T Copied from the Exome Variant Server MED13L_000203 1/13006 0/8600 1/4406
?/? c.1633A>G r.(?) p.(Met545Val) g.116446585T>C Copied from the Exome Variant Server MED13L_000202 2/13006 2/8600 0/4406
?/? c.1650C>G r.(=) p.(=) g.116446568G>C Copied from the Exome Variant Server MED13L_000201 1/13006 0/8600 1/4406
?/? c.1654A>G r.(?) p.(Ile552Val) g.116446564T>C Copied from the Exome Variant Server MED13L_000200 1/13006 1/8600 0/4406
?/? c.1717C>A r.(?) p.(Pro573Thr) g.116446501G>T Copied from the Exome Variant Server MED13L_000199 1/13006 1/8600 0/4406
?/? c.1724C>T r.(?) p.(Ser575Leu) g.116446494G>A Copied from the Exome Variant Server MED13L_000198 1/13006 0/8600 1/4406
?/? c.1725G>A r.(=) p.(=) g.116446493C>T Copied from the Exome Variant Server MED13L_000197 39/13006 0/8600 39/4406
?/? c.1728C>T r.(=) p.(=) g.116446490G>A Copied from the Exome Variant Server MED13L_000196 1/13006 1/8600 0/4406
?/? c.1764A>G r.(=) p.(=) g.116446454T>C Copied from the Exome Variant Server MED13L_000195 1/13006 0/8600 1/4406
?/? c.1765C>T r.(?) p.(Leu589Phe) g.116446453G>A Copied from the Exome Variant Server MED13L_000194 1/13006 0/8600 1/4406
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