All transcript variants in gene MAD2L1

Information The variants shown are described using the NM_002358.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-45_-44insGC r.(=) p.(=) g.120987933_120987934insGC Copied from the Exome Variant Server MAD2L1_000038 22/12512 1/8252 21/4260
?/? c.-40C>A r.(=) p.(=) g.120987929G>T Copied from the Exome Variant Server MAD2L1_000037 4/13004 0/8600 4/4404
?/? c.-12G>T r.(=) p.(=) g.120987901C>A Copied from the Exome Variant Server MAD2L1_000035 1/13004 1/8600 0/4404
?/? c.19C>G r.(?) p.(Arg7Gly) g.120987871G>C Copied from the Exome Variant Server MAD2L1_000034 2/13006 2/8600 0/4406
?/? c.20G>A r.(?) p.(Arg7Gln) g.120987870C>T Copied from the Exome Variant Server MAD2L1_000032 1/13006 1/8600 0/4406
?/? c.66G>A r.(=) p.(=) g.120987824C>T Copied from the Exome Variant Server MAD2L1_000030 3/13006 1/8600 2/4406
?/? c.73+23A>G r.(=) p.(=) g.120987794T>C Copied from the Exome Variant Server MAD2L1_000028 1/13006 1/8600 0/4406
?/? c.73+44T>A r.(=) p.(=) g.120987773A>T Copied from the Exome Variant Server MAD2L1_000026 1/13006 0/8600 1/4406
?/? c.126C>G r.(=) p.(=) g.120986921G>C Copied from the Exome Variant Server MAD2L1_000024 1/13006 0/8600 1/4406
?/? c.193C>A r.(?) p.(Leu65Ile) g.120986854G>T Copied from the Exome Variant Server MAD2L1_000022 2/13006 1/8600 1/4406
?/? c.220+6T>G r.(=) p.(=) g.120986821A>C Copied from the Exome Variant Server MAD2L1_000020 1/13006 0/8600 1/4406
?/? c.220+19A>G r.(=) p.(=) g.120986808T>C Copied from the Exome Variant Server MAD2L1_000018 1/13006 1/8600 0/4406
?/? c.221-40A>G r.(=) p.(=) g.120983290T>C Copied from the Exome Variant Server MAD2L1_000016 1/13006 1/8600 0/4406
?/? c.221-30G>T r.(=) p.(=) g.120983280C>A Copied from the Exome Variant Server MAD2L1_000036 1/13006 1/8600 0/4406
?/? c.221-9A>G r.(=) p.(=) g.120983259T>C Copied from the Exome Variant Server MAD2L1_000033 9924/13006 6181/8600 3743/4406
?/? c.234G>C r.(?) p.(Lys78Asn) g.120983237C>G Copied from the Exome Variant Server MAD2L1_000031 1/13006 1/8600 0/4406
?/? c.235T>A r.(?) p.(Cys79Ser) g.120983236A>T Copied from the Exome Variant Server MAD2L1_000029 1/13006 1/8600 0/4406
?/? c.255T>A r.(=) p.(=) g.120983216A>T Copied from the Exome Variant Server MAD2L1_000027 1/13004 1/8598 0/4406
?/? c.341+34T>C r.(=) p.(=) g.120983096A>G Copied from the Exome Variant Server MAD2L1_000025 1/12986 1/8592 0/4394
?/? c.341+43del r.(=) p.(=) g.120983087del Copied from the Exome Variant Server MAD2L1_000023 9525/12482 5922/8236 3603/4246
?/? c.342-6_342-5insT r.spl? p.? g.120982137_120982138insA Copied from the Exome Variant Server MAD2L1_000021 326/12516 295/8252 31/4264
?/? c.342-3C>A r.spl? p.? g.120982135G>T Copied from the Exome Variant Server MAD2L1_000019 646/13004 593/8598 53/4406
?/? c.356A>T r.(?) p.(Lys119Met) g.120982118T>A Copied from the Exome Variant Server MAD2L1_000017 1/13002 1/8596 0/4406
?/? c.359C>T r.(?) p.(Ser120Phe) g.120982115G>A Copied from the Exome Variant Server MAD2L1_000015 7/13002 0/8596 7/4406
?/? c.362A>C r.(?) p.(Gln121Pro) g.120982112T>G Copied from the Exome Variant Server MAD2L1_000014 1/13004 1/8598 0/4406
?/? c.429A>G r.(=) p.(=) g.120982045T>C Copied from the Exome Variant Server MAD2L1_000013 647/13006 593/8600 54/4406
?/? c.445+14_445+16del r.(=) p.(=) g.120982013_120982015del Copied from the Exome Variant Server MAD2L1_000012 15/12518 9/8252 6/4266
?/? c.445+24T>G r.(=) p.(=) g.120982005A>C Copied from the Exome Variant Server MAD2L1_000011 1/13002 1/8596 0/4406
?/? c.445+32A>G r.(=) p.(=) g.120981997T>C Copied from the Exome Variant Server MAD2L1_000010 1/13004 1/8598 0/4406
?/? c.446G>A r.(?) p.(Cys149Tyr) g.120981445C>T Copied from the Exome Variant Server MAD2L1_000009 1/13006 1/8600 0/4406
?/? c.462G>A r.(=) p.(=) g.120981429C>T Copied from the Exome Variant Server MAD2L1_000008 1/13006 1/8600 0/4406
?/? c.487G>T r.(?) p.(Val163Leu) g.120981404C>A Copied from the Exome Variant Server MAD2L1_000007 1/13004 1/8600 0/4404
?/? c.507G>A r.(=) p.(=) g.120981384C>T Copied from the Exome Variant Server MAD2L1_000006 1/13006 0/8600 1/4406
?/? c.511G>A r.(?) p.(Gly171Arg) g.120981380C>T Copied from the Exome Variant Server MAD2L1_000005 1/13006 0/8600 1/4406
?/? c.568A>G r.(?) p.(Ile190Val) g.120981323T>C Copied from the Exome Variant Server MAD2L1_000004 57/13006 49/8600 8/4406
?/? c.*17A>G r.(=) p.(=) g.120981256T>C Copied from the Exome Variant Server MAD2L1_000003 5/13006 4/8600 1/4406
?/? c.*26T>C r.(=) p.(=) g.120981247A>G Copied from the Exome Variant Server MAD2L1_000002 3/13006 0/8600 3/4406
?/? c.*43G>A r.(=) p.(=) g.120981230C>T Copied from the Exome Variant Server MAD2L1_000001 1/13006 1/8600 0/4406
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