Unique variants in gene MSI1

Information The variants shown are described using the NM_002442.3 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
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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.60-30G>C r.(=) p.(=) g.120806706C>G Copied from the Exome Variant Server MSI1_000096 1341/11602 855/7698 486/3904
1 c.100+22_100+23insCC r.(=) p.(=) g.120806613_120806614insGG Copied from the Exome Variant Server MSI1_000095 409/6060 265/4126 144/1934
1 c.101-54_101-53insA r.(=) p.(=) g.120806129_120806130insT Copied from the Exome Variant Server MSI1_000094 7747/10100 4962/6660 2785/3440
1 c.101-33del r.(=) p.(=) g.120806109del Copied from the Exome Variant Server MSI1_000093 4/11204 4/7404 0/3800
1 c.141G>A r.(=) p.(=) g.120806036C>T Copied from the Exome Variant Server MSI1_000092 2/12986 2/8586 0/4400
1 c.183-29A>G r.(=) p.(=) g.120805924T>C Copied from the Exome Variant Server MSI1_000091 1/13006 1/8600 0/4406
1 c.183-6G>C r.(=) p.(=) g.120805901C>G Copied from the Exome Variant Server MSI1_000090 1/13006 0/8600 1/4406
1 c.216G>C r.(=) p.(=) g.120805862C>G Copied from the Exome Variant Server MSI1_000089 8/13006 0/8600 8/4406
1 c.267+38_267+39del r.(=) p.(=) g.120805772_120805773del Copied from the Exome Variant Server MSI1_000088 10/12498 8/8240 2/4258
1 c.267+49C>A r.(=) p.(=) g.120805762G>T Copied from the Exome Variant Server MSI1_000087 4/12962 3/8576 1/4386
1 c.268-41G>T r.(=) p.(=) g.120802599C>A Copied from the Exome Variant Server MSI1_000086 36/13006 0/8600 36/4406
1 c.268-40C>T r.(=) p.(=) g.120802598G>A Copied from the Exome Variant Server MSI1_000085 12/13006 1/8600 11/4406
1 c.268-33C>T r.(=) p.(=) g.120802591G>A Copied from the Exome Variant Server MSI1_000084 1/13006 1/8600 0/4406
1 c.309+5G>A r.spl? p.? g.120802512C>T Copied from the Exome Variant Server MSI1_000083 1/13006 1/8600 0/4406
1 c.309+7G>A r.(=) p.(=) g.120802510C>T Copied from the Exome Variant Server MSI1_000082 6/13006 0/8600 6/4406
1 c.309+20G>A r.(=) p.(=) g.120802497C>T Copied from the Exome Variant Server MSI1_000081 1/13006 0/8600 1/4406
1 c.309+21G>A r.(=) p.(=) g.120802496C>T Copied from the Exome Variant Server MSI1_000080 1/13006 1/8600 0/4406
1 c.309+37A>G r.(=) p.(=) g.120802480T>C Copied from the Exome Variant Server MSI1_000079 1/13006 1/8600 0/4406
1 c.309+54G>C r.(=) p.(=) g.120802463C>G Copied from the Exome Variant Server MSI1_000078 4/4566 3/3182 1/1384
1 c.309+63C>A r.(=) p.(=) g.120802454G>T Copied from the Exome Variant Server MSI1_000077 1/4566 1/3182 0/1384
1 c.310-50G>A r.(=) p.(=) g.120800988C>T Copied from the Exome Variant Server MSI1_000076 644/13006 588/8600 56/4406
1 c.339G>A r.(=) p.(=) g.120800909C>T Copied from the Exome Variant Server MSI1_000075 1/13006 1/8600 0/4406
1 c.362C>T r.(?) p.(Thr121Met) g.120800886G>A Copied from the Exome Variant Server MSI1_000074 1/13006 1/8600 0/4406
1 c.402+4G>A r.spl? p.? g.120800842C>T Copied from the Exome Variant Server MSI1_000073 1/13006 1/8600 0/4406
1 c.402+16G>A r.(=) p.(=) g.120800830C>T Copied from the Exome Variant Server MSI1_000072 10/13006 10/8600 0/4406
1 c.402+23T>C r.(=) p.(=) g.120800823A>G Copied from the Exome Variant Server MSI1_000071 11331/13006 7312/8600 4019/4406
1 c.402+24G>A r.(=) p.(=) g.120800822C>T Copied from the Exome Variant Server MSI1_000070 1/13006 1/8600 0/4406
1 c.402+44A>C r.(=) p.(=) g.120800802T>G Copied from the Exome Variant Server MSI1_000069 1/13006 1/8600 0/4406
1 c.403-35A>G r.(=) p.(=) g.120796891T>C Copied from the Exome Variant Server MSI1_000068 1/12626 1/8364 0/4262
1 c.411C>T r.(=) p.(=) g.120796848G>A Copied from the Exome Variant Server MSI1_000067 1/12838 0/8506 1/4332
1 c.425T>A r.(?) p.(Phe142Tyr) g.120796834A>T Copied from the Exome Variant Server MSI1_000065 1/12900 1/8528 0/4372
1 c.444G>T r.(=) p.(=) g.120796815C>A Copied from the Exome Variant Server MSI1_000063 1/12924 1/8550 0/4374
1 c.451+39G>A r.(=) p.(=) g.120796769C>T Copied from the Exome Variant Server MSI1_000061 315/12882 8/8524 307/4358
1 c.451+49del r.(=) p.(=) g.120796759del Copied from the Exome Variant Server MSI1_000059 2/12348 1/8156 1/4192
1 c.452-43G>A r.(=) p.(=) g.120795744C>T Copied from the Exome Variant Server MSI1_000057 1/13006 0/8600 1/4406
1 c.452-11C>G r.(=) p.(=) g.120795712G>C Copied from the Exome Variant Server MSI1_000055 1/13006 1/8600 0/4406
1 c.452-3T>C r.spl? p.? g.120795704A>G Copied from the Exome Variant Server MSI1_000053 25/13006 23/8600 2/4406
1 c.480G>A r.(=) p.(=) g.120795673C>T Copied from the Exome Variant Server MSI1_000051 3/13006 1/8600 2/4406
1 c.486C>T r.(=) p.(=) g.120795667G>A Copied from the Exome Variant Server MSI1_000049 1/13006 1/8600 0/4406
1 c.509A>G r.(?) p.(His170Arg) g.120795644T>C Copied from the Exome Variant Server MSI1_000047 1/13006 1/8600 0/4406
1 c.534+13C>T r.(=) p.(=) g.120795606G>A Copied from the Exome Variant Server MSI1_000045 2/13006 2/8600 0/4406
1 c.534+14G>A r.(=) p.(=) g.120795605C>T Copied from the Exome Variant Server MSI1_000043 1/13006 0/8600 1/4406
1 c.534+27C>T r.(=) p.(=) g.120795592G>A Copied from the Exome Variant Server MSI1_000041 2/13006 0/8600 2/4406
1 c.534+48T>C r.(=) p.(=) g.120795571A>G Copied from the Exome Variant Server MSI1_000066 9/13006 0/8600 9/4406
1 c.535-22T>C r.(=) p.(=) g.120794844A>G Copied from the Exome Variant Server MSI1_000064 1/13006 1/8600 0/4406
1 c.535-18C>T r.(=) p.(=) g.120794840G>A Copied from the Exome Variant Server MSI1_000062 15/13006 2/8600 13/4406
1 c.535-17G>A r.(=) p.(=) g.120794839C>T Copied from the Exome Variant Server MSI1_000060 9/13006 1/8600 8/4406
1 c.546G>A r.(=) p.(=) g.120794811C>T Copied from the Exome Variant Server MSI1_000058 1/13006 1/8600 0/4406
1 c.572C>T r.(?) p.(Ser191Leu) g.120794785G>A Copied from the Exome Variant Server MSI1_000056 1/13006 1/8600 0/4406
1 c.579G>A r.(=) p.(=) g.120794778C>T Copied from the Exome Variant Server MSI1_000054 1/13006 0/8600 1/4406
1 c.594_595insG r.(?) p.(Arg199Glufs*180) g.120794762_120794763insC Copied from the Exome Variant Server MSI1_000052 20/12518 9/8254 11/4264
1 c.615C>T r.(=) p.(=) g.120794742G>A Copied from the Exome Variant Server MSI1_000050 3/13006 0/8600 3/4406
1 c.652+6C>T r.(=) p.(=) g.120794699G>A Copied from the Exome Variant Server MSI1_000048 1/13006 1/8600 0/4406
1 c.652+7G>C r.(=) p.(=) g.120794698C>G Copied from the Exome Variant Server MSI1_000046 1/13006 1/8600 0/4406
1 c.652+8C>T r.(=) p.(=) g.120794697G>A Copied from the Exome Variant Server MSI1_000044 36/13006 0/8600 36/4406
1 c.652+16C>T r.(=) p.(=) g.120794689G>A Copied from the Exome Variant Server MSI1_000042 21/13006 0/8600 21/4406
1 c.652+17G>T r.(=) p.(=) g.120794688C>A Copied from the Exome Variant Server MSI1_000040 7/13006 0/8600 7/4406
1 c.652+23G>A r.(=) p.(=) g.120794682C>T Copied from the Exome Variant Server MSI1_000039 10/13004 8/8600 2/4404
1 c.652+52A>G r.(=) p.(=) g.120794653T>C Copied from the Exome Variant Server MSI1_000038 4231/5734 2860/3982 1371/1752
1 c.653-45C>T r.(=) p.(=) g.120791227G>A Copied from the Exome Variant Server MSI1_000037 2/13006 0/8600 2/4406
1 c.653-28_653-25del r.(=) p.(=) g.120791207_120791210del Copied from the Exome Variant Server MSI1_000036 1/12510 0/8246 1/4264
1 c.653-15C>T r.(=) p.(=) g.120791197G>A Copied from the Exome Variant Server MSI1_000035 1577/13006 1152/8600 425/4406
1 c.681C>T r.(=) p.(=) g.120791154G>A Copied from the Exome Variant Server MSI1_000034 1/13006 1/8600 0/4406
1 c.682G>A r.(?) p.(Ala228Thr) g.120791153C>T Copied from the Exome Variant Server MSI1_000033 50/13006 47/8600 3/4406
1 c.692G>C r.(?) p.(Ser231Thr) g.120791143C>G Copied from the Exome Variant Server MSI1_000032 1/13006 1/8600 0/4406
1 c.706G>A r.(?) p.(Ala236Thr) g.120791129C>T Copied from the Exome Variant Server MSI1_000031 1/13006 1/8600 0/4406
1 c.712G>T r.(?) p.(Gly238Cys) g.120791123C>A Copied from the Exome Variant Server MSI1_000029 1/13006 0/8600 1/4406
1 c.732C>T r.(=) p.(=) g.120791103G>A Copied from the Exome Variant Server MSI1_000027 1/13006 0/8600 1/4406
1 c.733+37C>T r.(=) p.(=) g.120791065G>A Copied from the Exome Variant Server MSI1_000030 2/13006 1/8600 1/4406
1 c.733+60C>T r.(=) p.(=) g.120791042G>A Copied from the Exome Variant Server MSI1_000028 2047/4566 1760/3182 287/1384
1 c.734-13C>T r.(=) p.(=) g.120789216G>A Copied from the Exome Variant Server MSI1_000026 1/13004 1/8600 0/4404
1 c.734-12G>A r.(=) p.(=) g.120789215C>T Copied from the Exome Variant Server MSI1_000025 7/13004 6/8600 1/4404
1 c.734-7A>G r.(=) p.(=) g.120789210T>C Copied from the Exome Variant Server MSI1_000024 1/13006 1/8600 0/4406
1 c.734A>C r.(?) p.(Glu245Ala) g.120789203T>G Copied from the Exome Variant Server MSI1_000023 1/13006 1/8600 0/4406
1 c.752C>T r.(?) p.(Thr251Ile) g.120789185G>A Copied from the Exome Variant Server MSI1_000022 1/13006 0/8600 1/4406
1 c.771A>C r.(=) p.(=) g.120789166T>G Copied from the Exome Variant Server MSI1_000021 14/13006 0/8600 14/4406
1 c.790+7C>T r.(=) p.(=) g.120789140G>A Copied from the Exome Variant Server MSI1_000020 121/13002 2/8598 119/4404
1 c.790+56G>T r.(=) p.(=) g.120789091C>A Copied from the Exome Variant Server MSI1_000019 23/4566 0/3182 23/1384
1 c.791-49A>C r.(=) p.(=) g.120785366T>G Copied from the Exome Variant Server MSI1_000018 2/13006 2/8600 0/4406
1 c.821C>T r.(?) p.(Ala274Val) g.120785287G>A Copied from the Exome Variant Server MSI1_000017 2/13006 1/8600 1/4406
1 c.828A>G r.(=) p.(=) g.120785280T>C Copied from the Exome Variant Server MSI1_000016 11/13006 9/8600 2/4406
1 c.840G>A r.(=) p.(=) g.120785268C>T Copied from the Exome Variant Server MSI1_000015 20/13006 18/8600 2/4406
1 c.859+18G>A r.(=) p.(=) g.120785231C>T Copied from the Exome Variant Server MSI1_000014 1/13006 1/8600 0/4406
1 c.859+33A>T r.(=) p.(=) g.120785216T>A Copied from the Exome Variant Server MSI1_000013 1/13006 1/8600 0/4406
1 c.859+36G>A r.(=) p.(=) g.120785213C>T Copied from the Exome Variant Server MSI1_000012 2/13006 2/8600 0/4406
1 c.860-39G>A r.(=) p.(=) g.120784164C>T Copied from the Exome Variant Server MSI1_000011 1/12170 0/8084 1/4086
1 c.860-30G>A r.(=) p.(=) g.120784155C>T Copied from the Exome Variant Server MSI1_000010 13/12394 1/8244 12/4150
1 c.860-21G>A r.(=) p.(=) g.120784146C>T Copied from the Exome Variant Server MSI1_000009 1/12542 1/8320 0/4222
1 c.912A>C r.(=) p.(=) g.120784073T>G Copied from the Exome Variant Server MSI1_000008 2/12790 2/8470 0/4320
1 c.966G>A r.(=) p.(=) g.120784019C>T Copied from the Exome Variant Server MSI1_000007 6/12904 0/8532 6/4372
1 c.1025C>T r.(?) p.(Thr342Ile) g.120783960G>A Copied from the Exome Variant Server MSI1_000006 1/12762 1/8466 0/4296
1 c.1047+34C>T r.(=) p.(=) g.120783904G>A Copied from the Exome Variant Server MSI1_000005 61/11948 56/7998 5/3950
1 c.1048-37T>G r.(=) p.(=) g.120783472A>C Copied from the Exome Variant Server MSI1_000004 1/13006 0/8600 1/4406
1 c.1048-3C>T r.spl? p.? g.120783438G>A Copied from the Exome Variant Server MSI1_000003 1/13006 0/8600 1/4406
1 c.*10C>T r.(=) p.(=) g.120783384G>A Copied from the Exome Variant Server MSI1_000002 1/13006 0/8600 1/4406
1 c.*21+14G>A r.(=) p.(=) g.120783359C>T Copied from the Exome Variant Server MSI1_000001 3/13006 3/8600 0/4406
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