All transcript variants in gene MAD1L1

Information The variants shown are described using the NM_003550.2 transcript reference sequence.

235 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.36C>T r.(=) p.(=) g.2269733G>A Copied from the Exome Variant Server MAD1L1_000235 2/12346 1/8332 1/4014
?/? c.63C>T r.(=) p.(=) g.2269706G>A Copied from the Exome Variant Server MAD1L1_000234 1/12362 1/8350 0/4012
?/? c.65C>G r.(?) p.(Ser22Cys) g.2269704G>C Copied from the Exome Variant Server MAD1L1_000233 1/12364 0/8350 1/4014
?/? c.70C>T r.(?) p.(Arg24Cys) g.2269699G>A Copied from the Exome Variant Server MAD1L1_000232 1/12368 0/8356 1/4012
?/? c.121C>G r.(?) p.(Leu41Val) g.2269648G>C Copied from the Exome Variant Server MAD1L1_000231 1/12360 1/8354 0/4006
?/? c.150+42C>T r.(=) p.(=) g.2269577G>A Copied from the Exome Variant Server MAD1L1_000230 2/12158 0/8282 2/3876
?/? c.150+44C>T r.(=) p.(=) g.2269575G>A Copied from the Exome Variant Server MAD1L1_000229 1/12128 1/8260 0/3868
?/? c.151-12C>T r.(=) p.(=) g.2265197G>A Copied from the Exome Variant Server MAD1L1_000228 1/12662 1/8472 0/4190
?/? c.168G>A r.(=) p.(=) g.2265168C>T Copied from the Exome Variant Server MAD1L1_000227 1/12642 1/8452 0/4190
?/? c.175C>T r.(?) p.(Arg59Cys) g.2265161G>A Copied from the Exome Variant Server MAD1L1_000226 50/12652 47/8458 3/4194
?/? c.192C>T r.(=) p.(=) g.2265144G>A Copied from the Exome Variant Server MAD1L1_000225 1/12628 1/8436 0/4192
?/? c.206G>C r.(?) p.(Arg69Pro) g.2265130C>G Copied from the Exome Variant Server MAD1L1_000224 1/12654 1/8448 0/4206
?/? c.220A>G r.(?) p.(Met74Val) g.2265116T>C Copied from the Exome Variant Server MAD1L1_000223 1/12678 1/8452 0/4226
?/? c.244C>T r.(?) p.(Arg82*) g.2265092G>A Copied from the Exome Variant Server MAD1L1_000222 2/12668 0/8460 2/4208
?/? c.273C>T r.(=) p.(=) g.2265063G>A Copied from the Exome Variant Server MAD1L1_000221 26/12596 24/8438 2/4158
?/? c.286T>C r.(?) p.(Tyr96His) g.2265050A>G Copied from the Exome Variant Server MAD1L1_000220 2/12556 2/8424 0/4132
?/? c.288C>T r.(=) p.(=) g.2265048G>A Copied from the Exome Variant Server MAD1L1_000219 3/12548 0/8428 3/4120
?/? c.291+13G>A r.(=) p.(=) g.2265032C>T Copied from the Exome Variant Server MAD1L1_000218 1/12430 0/8360 1/4070
?/? c.291+25G>T r.(=) p.(=) g.2265020C>A Copied from the Exome Variant Server MAD1L1_000217 265/12388 249/8340 16/4048
?/? c.292-45C>G r.(=) p.(=) g.2262434G>C Copied from the Exome Variant Server MAD1L1_000216 1/12864 1/8530 0/4334
?/? c.292-40G>C r.(=) p.(=) g.2262429C>G Copied from the Exome Variant Server MAD1L1_000215 172/12868 154/8528 18/4340
?/? c.292-30C>T r.(=) p.(=) g.2262419G>A Copied from the Exome Variant Server MAD1L1_000214 1/12894 1/8536 0/4358
?/? c.292-6_292-5insT N/A N/A g.2262394_2262395insA Copied from the Exome Variant Server MAD1L1_000213 2/12322 2/8154 0/4168
?/? c.293G>A r.(?) p.(Arg98His) g.2262388C>T Copied from the Exome Variant Server MAD1L1_000212 1/12858 1/8518 0/4340
?/? c.300C>T r.(=) p.(=) g.2262381G>A Copied from the Exome Variant Server MAD1L1_000211 1/12846 1/8514 0/4332
?/? c.319C>T r.(=) p.(=) g.2262362G>A Copied from the Exome Variant Server MAD1L1_000210 2/12788 1/8490 1/4298
?/? c.323C>A r.(?) p.(Thr108Lys) g.2262358G>T Copied from the Exome Variant Server MAD1L1_000209 4/12774 0/8486 4/4288
?/? c.324G>A r.(=) p.(=) g.2262357C>T Copied from the Exome Variant Server MAD1L1_000208 1/12766 0/8482 1/4284
?/? c.326G>A r.(?) p.(Arg109His) g.2262355C>T Copied from the Exome Variant Server MAD1L1_000207 1/12762 0/8480 1/4282
?/? c.332G>A r.(?) p.(Arg111Gln) g.2262349C>T Copied from the Exome Variant Server MAD1L1_000206 1/12706 0/8464 1/4242
?/? c.333G>A r.(=) p.(=) g.2262348C>T Copied from the Exome Variant Server MAD1L1_000205 1/12706 1/8464 0/4242
?/? c.343G>A r.(?) p.(Glu115Lys) g.2262338C>T Copied from the Exome Variant Server MAD1L1_000204 1/12656 0/8456 1/4200
?/? c.346C>T r.(?) p.(Arg116Trp) g.2262335G>A Copied from the Exome Variant Server MAD1L1_000203 1/12646 0/8450 1/4196
?/? c.354C>T r.(=) p.(=) g.2262327G>A Copied from the Exome Variant Server MAD1L1_000202 1/12738 1/8490 0/4248
?/? c.388C>T r.(?) p.(Arg130Cys) g.2262293G>A Copied from the Exome Variant Server MAD1L1_000201 1/12902 0/8544 1/4358
?/? c.389G>A r.(?) p.(Arg130His) g.2262292C>T Copied from the Exome Variant Server MAD1L1_000200 7/12902 1/8544 6/4358
?/? c.436C>T r.(?) p.(Arg146Cys) g.2262245G>A Copied from the Exome Variant Server MAD1L1_000199 3/12894 3/8540 0/4354
?/? c.450C>G r.(?) p.(Asp150Glu) g.2262231G>C Copied from the Exome Variant Server MAD1L1_000197 1/12852 1/8516 0/4336
?/? c.471+6C>T r.(=) p.(=) g.2262204G>A Copied from the Exome Variant Server MAD1L1_000195 1/12796 1/8496 0/4300
?/? c.471+20C>T r.(=) p.(=) g.2262190G>A Copied from the Exome Variant Server MAD1L1_000193 1/12746 1/8480 0/4266
?/? c.471+1519C>T r.(=) p.(=) g.2260691G>A Copied from the Exome Variant Server MAD1L1_000191 1/5734 1/3982 0/1752
?/? c.471+1520G>A r.(=) p.(=) g.2260690C>T Copied from the Exome Variant Server MAD1L1_000189 1/5734 1/3982 0/1752
?/? c.472-1544A>G r.(=) p.(=) g.2260635T>C Copied from the Exome Variant Server MAD1L1_000187 1/5734 1/3982 0/1752
?/? c.472-1504C>A r.(=) p.(=) g.2260595G>T Copied from the Exome Variant Server MAD1L1_000185 1/5734 1/3982 0/1752
?/? c.472-1504_472-1503del r.(=) p.(=) g.2260594_2260595del Copied from the Exome Variant Server MAD1L1_000183 45/8476 1/5546 44/2930
?/? c.472-1503C>T r.(=) p.(=) g.2260594G>A Copied from the Exome Variant Server MAD1L1_000181 120/5734 0/3982 120/1752
?/? c.472-1491C>T r.(=) p.(=) g.2260582G>A Copied from the Exome Variant Server MAD1L1_000179 1/5734 0/3982 1/1752
?/? c.472-1460C>T r.(=) p.(=) g.2260551G>A Copied from the Exome Variant Server MAD1L1_000177 278/5734 7/3982 271/1752
?/? c.472-1411T>C r.(=) p.(=) g.2260502A>G Copied from the Exome Variant Server MAD1L1_000175 1/5734 0/3982 1/1752
?/? c.472-1408G>A r.(=) p.(=) g.2260499C>T Copied from the Exome Variant Server MAD1L1_000198 1558/5734 885/3982 673/1752
?/? c.472-1391A>G r.(=) p.(=) g.2260482T>C Copied from the Exome Variant Server MAD1L1_000196 469/5732 4/3980 465/1752
?/? c.472-1383A>G r.(=) p.(=) g.2260474T>C Copied from the Exome Variant Server MAD1L1_000194 2/5730 2/3980 0/1750
?/? c.472-45C>T r.(=) p.(=) g.2259136G>A Copied from the Exome Variant Server MAD1L1_000192 1/12588 1/8422 0/4166
?/? c.472-43G>A r.(=) p.(=) g.2259134C>T Copied from the Exome Variant Server MAD1L1_000190 326/12598 299/8430 27/4168
?/? c.472-27C>T r.(=) p.(=) g.2259118G>A Copied from the Exome Variant Server MAD1L1_000188 2/12580 2/8428 0/4152
?/? c.472-20C>G r.(=) p.(=) g.2259111G>C Copied from the Exome Variant Server MAD1L1_000186 1/12578 1/8432 0/4146
?/? c.472-12C>G r.(=) p.(=) g.2259103G>C Copied from the Exome Variant Server MAD1L1_000184 10/12574 9/8424 1/4150
?/? c.480C>T r.(=) p.(=) g.2259083G>A Copied from the Exome Variant Server MAD1L1_000182 2/12606 2/8450 0/4156
?/? c.517G>A r.(?) p.(Val173Met) g.2259046C>T Copied from the Exome Variant Server MAD1L1_000180 1/12572 1/8450 0/4122
?/? c.545G>A r.(?) p.(Arg182His) g.2259018C>T Copied from the Exome Variant Server MAD1L1_000178 1/12498 0/8422 1/4076
?/? c.596+6C>T r.(=) p.(=) g.2258961G>A Copied from the Exome Variant Server MAD1L1_000176 1/12112 1/8220 0/3892
?/? c.597-23G>A r.(=) p.(=) g.2257701C>T Copied from the Exome Variant Server MAD1L1_000174 1/12336 0/8336 1/4000
?/? c.597-10C>A r.(=) p.(=) g.2257688G>T Copied from the Exome Variant Server MAD1L1_000173 1/12308 0/8316 1/3992
?/? c.606G>A r.(=) p.(=) g.2257669C>T Copied from the Exome Variant Server MAD1L1_000172 5/12422 0/8364 5/4058
?/? c.663C>T r.(=) p.(=) g.2257612G>A Copied from the Exome Variant Server MAD1L1_000171 4273/12768 2982/8486 1291/4282
?/? c.678+44G>T r.(=) p.(=) g.2257553C>A Copied from the Exome Variant Server MAD1L1_000170 1/12906 1/8542 0/4364
?/? c.679-52G>A r.(=) p.(=) g.2255974C>T Copied from the Exome Variant Server MAD1L1_000169 161/6684 153/4394 8/2290
?/? c.679-43G>A r.(=) p.(=) g.2255965C>T Copied from the Exome Variant Server MAD1L1_000168 3/12448 0/8376 3/4072
?/? c.679-15C>T r.(=) p.(=) g.2255937G>A Copied from the Exome Variant Server MAD1L1_000167 3/12418 0/8356 3/4062
?/? c.679-10C>T r.(=) p.(=) g.2255932G>A Copied from the Exome Variant Server MAD1L1_000166 1/12420 1/8368 0/4052
?/? c.685G>A r.(?) p.(Glu229Lys) g.2255916C>T Copied from the Exome Variant Server MAD1L1_000164 1/12414 1/8370 0/4044
?/? c.708G>C r.(?) p.(Glu236Asp) g.2255893C>G Copied from the Exome Variant Server MAD1L1_000162 39/12440 36/8366 3/4074
?/? c.719C>T r.(?) p.(Ala240Val) g.2255882G>A Copied from the Exome Variant Server MAD1L1_000160 1/12436 1/8360 0/4076
?/? c.720G>T r.(=) p.(=) g.2255881C>A Copied from the Exome Variant Server MAD1L1_000158 1/12428 1/8364 0/4064
?/? c.738G>A r.(=) p.(=) g.2255863C>T Copied from the Exome Variant Server MAD1L1_000165 1/12454 1/8384 0/4070
?/? c.799G>A r.(?) p.(Ala267Thr) g.2255802C>T Copied from the Exome Variant Server MAD1L1_000163 2/12402 0/8352 2/4050
?/? c.807G>A r.(=) p.(=) g.2255794C>T Copied from the Exome Variant Server MAD1L1_000161 2/12344 1/8328 1/4016
?/? c.808C>T r.(?) p.(Arg270Trp) g.2255793G>A Copied from the Exome Variant Server MAD1L1_000159 3/12348 1/8330 2/4018
?/? c.809+8G>A r.(=) p.(=) g.2255784C>T Copied from the Exome Variant Server MAD1L1_000157 44/12354 0/8322 44/4032
?/? c.809+12C>T r.(=) p.(=) g.2255780G>A Copied from the Exome Variant Server MAD1L1_000156 3/12336 0/8320 3/4016
?/? c.809+28C>T r.(=) p.(=) g.2255764G>A Copied from the Exome Variant Server MAD1L1_000155 4/12368 0/8328 4/4040
?/? c.809+33C>T r.(=) p.(=) g.2255759G>A Copied from the Exome Variant Server MAD1L1_000154 2/12330 0/8306 2/4024
?/? c.809+34G>A r.(=) p.(=) g.2255758C>T Copied from the Exome Variant Server MAD1L1_000153 1/12322 1/8306 0/4016
?/? c.810-53del r.(=) p.(=) g.2255687del Copied from the Exome Variant Server MAD1L1_000152 5/11868 1/7990 4/3878
?/? c.810-10G>A r.(=) p.(=) g.2255644C>T Copied from the Exome Variant Server MAD1L1_000151 20/12542 0/8402 20/4140
?/? c.810-4C>G r.spl? p.? g.2255638G>C Copied from the Exome Variant Server MAD1L1_000150 1/12558 1/8404 0/4154
?/? c.875G>A r.(?) p.(Arg292His) g.2255569C>T Copied from the Exome Variant Server MAD1L1_000149 2/12832 2/8516 0/4316
?/? c.896C>T r.(?) p.(Thr299Met) g.2255548G>A Copied from the Exome Variant Server MAD1L1_000148 6/12868 5/8534 1/4334
?/? c.924+1G>A r.spl? p.? g.2255519C>T Copied from the Exome Variant Server MAD1L1_000147 1/12906 1/8548 0/4358
?/? c.924+22G>C r.(=) p.(=) g.2255498C>G Copied from the Exome Variant Server MAD1L1_000146 27/12888 0/8536 27/4352
?/? c.924+33_924+34insG r.(=) p.(=) g.2255486_2255487insC Copied from the Exome Variant Server MAD1L1_000145 2/12376 2/8172 0/4204
?/? c.925-25G>C r.(=) p.(=) g.2252933C>G Copied from the Exome Variant Server MAD1L1_000144 3/12662 0/8474 3/4188
?/? c.958C>T r.(=) p.(=) g.2252875G>A Copied from the Exome Variant Server MAD1L1_000143 230/12536 3/8402 227/4134
?/? c.970A>T r.(?) p.(Met324Leu) g.2252863T>A Copied from the Exome Variant Server MAD1L1_000142 3/12446 0/8370 3/4076
?/? c.973G>A r.(?) p.(Gly325Ser) g.2252860C>T Copied from the Exome Variant Server MAD1L1_000141 2/12444 1/8364 1/4080
?/? c.986+15G>A r.(=) p.(=) g.2252832C>T Copied from the Exome Variant Server MAD1L1_000140 1/12380 0/8352 1/4028
?/? c.986+17G>A r.(=) p.(=) g.2252830C>T Copied from the Exome Variant Server MAD1L1_000139 52/12372 4/8346 48/4026
?/? c.986+22C>T r.(=) p.(=) g.2252825G>A Copied from the Exome Variant Server MAD1L1_000138 6/12324 3/8320 3/4004
?/? c.986+29C>T r.(=) p.(=) g.2252818G>A Copied from the Exome Variant Server MAD1L1_000137 2/12270 2/8298 0/3972
?/? c.987-1G>A r.spl? p.? g.2188874C>T Copied from the Exome Variant Server MAD1L1_000136 1/12550 1/8408 0/4142
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