All transcript variants in gene MIER1

Information The variants shown are described using the NM_020948.3 transcript reference sequence.

100 entries on 1 page. 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.-115-44G>C r.(=) p.(=) g.67391781G>C Copied from the Exome Variant Server MIER1_000001 1/4566 1/3182 0/1384
?/? c.-115-27A>G r.(=) p.(=) g.67391798A>G Copied from the Exome Variant Server MIER1_000002 1/4566 0/3182 1/1384
?/? c.-69G>A r.(=) p.(=) g.67391871G>A Copied from the Exome Variant Server MIER1_000003 5/12354 0/8350 5/4004
?/? c.-63A>G r.(=) p.(=) g.67391877A>G Copied from the Exome Variant Server MIER1_000004 1/12342 0/8346 1/3996
?/? c.-44T>C r.(=) p.(=) g.67391896T>C Copied from the Exome Variant Server MIER1_000005 1/12312 1/8332 0/3980
?/? c.-28C>T r.(=) p.(=) g.67391912C>T Copied from the Exome Variant Server MIER1_000006 2/12268 2/8312 0/3956
?/? c.-15+39T>C r.(=) p.(=) g.67391964T>C Copied from the Exome Variant Server MIER1_000007 1/12004 0/8216 1/3788
?/? c.29G>A r.(?) p.(Cys10Tyr) g.67394615G>A Copied from the Exome Variant Server MIER1_000008 1/11870 0/8180 1/3690
?/? c.57C>T r.(=) p.(=) g.67394643C>T Copied from the Exome Variant Server MIER1_000009 2/11880 1/8182 1/3698
?/? c.60+32A>G r.(=) p.(=) g.67394678A>G Copied from the Exome Variant Server MIER1_000010 1/11828 1/8158 0/3670
?/? c.60+62del r.(=) p.(=) g.67394708del Copied from the Exome Variant Server MIER1_000011 557/11324 201/7810 356/3514
?/? c.60+1355_60+1356del r.(=) p.(=) g.67396001_67396002del Copied from the Exome Variant Server MIER1_000012 2/11516 2/7828 0/3688
?/? c.60+1395C>T r.(=) p.(=) g.67396041C>T Copied from the Exome Variant Server MIER1_000013 1/11896 0/8104 1/3792
?/? c.60+1413C>G r.(=) p.(=) g.67396059C>G Copied from the Exome Variant Server MIER1_000014 2/11968 2/8148 0/3820
?/? c.60+1415G>A r.(=) p.(=) g.67396061G>A Copied from the Exome Variant Server MIER1_000015 2/11960 2/8146 0/3814
?/? c.60+1454C>A r.(=) p.(=) g.67396100C>A Copied from the Exome Variant Server MIER1_000016 1/11842 0/8126 1/3716
?/? c.61-65C>T r.(=) p.(=) g.67405646C>T Copied from the Exome Variant Server MIER1_000017 21/4564 0/3180 21/1384
?/? c.61-49G>T r.(=) p.(=) g.67405662G>T Copied from the Exome Variant Server MIER1_000018 2/11778 0/8144 2/3634
?/? c.61-44A>G r.(=) p.(=) g.67405667A>G Copied from the Exome Variant Server MIER1_000019 3/11778 3/8142 0/3636
?/? c.85+3A>G r.spl? p.? g.67405738A>G Copied from the Exome Variant Server MIER1_000020 1/11782 1/8154 0/3628
?/? c.85+23A>G r.(=) p.(=) g.67405758A>G Copied from the Exome Variant Server MIER1_000022 1/11790 0/8166 1/3624
?/? c.85+50C>T r.(=) p.(=) g.67405785C>T Copied from the Exome Variant Server MIER1_000024 1/11824 1/8174 0/3650
?/? c.131A>G r.(?) p.(Asp44Gly) g.67411878A>G Copied from the Exome Variant Server MIER1_000026 1/11898 1/8182 0/3716
?/? c.133A>G r.(?) p.(Met45Val) g.67411880A>G Copied from the Exome Variant Server MIER1_000028 1/11900 1/8182 0/3718
?/? c.161G>A r.(?) p.(Arg54Gln) g.67411908G>A Copied from the Exome Variant Server MIER1_000030 3/11894 1/8184 2/3710
?/? c.165A>G r.(=) p.(=) g.67411912A>G Copied from the Exome Variant Server MIER1_000032 2/11892 0/8184 2/3708
?/? c.208T>G r.(?) p.(Ser70Ala) g.67411955T>G Copied from the Exome Variant Server MIER1_000034 1/11862 1/8188 0/3674
?/? c.231+13_231+14insAG r.(=) p.(=) g.67411991_67411992insAG Copied from the Exome Variant Server MIER1_000036 1/11368 0/7826 1/3542
?/? c.231+15G>C r.(=) p.(=) g.67411993G>C Copied from the Exome Variant Server MIER1_000038 1/11826 0/8162 1/3664
?/? c.231+27G>A r.(=) p.(=) g.67412005G>A Copied from the Exome Variant Server MIER1_000040 1/11810 0/8160 1/3650
?/? c.262A>T r.(?) p.(Ser88Cys) g.67423772A>T Copied from the Exome Variant Server MIER1_000042 1/12202 1/8294 0/3908
?/? c.393+7C>A r.(=) p.(=) g.67423910C>A Copied from the Exome Variant Server MIER1_000021 1/12070 1/8252 0/3818
?/? c.393+15A>G r.(=) p.(=) g.67423918A>G Copied from the Exome Variant Server MIER1_000023 1/11978 0/8218 1/3760
?/? c.393+35_393+38del r.(=) p.(=) g.67423938_67423941del Copied from the Exome Variant Server MIER1_000025 1/11412 1/7852 0/3560
?/? c.393+41C>G r.(=) p.(=) g.67423944C>G Copied from the Exome Variant Server MIER1_000027 1/11824 1/8176 0/3648
?/? c.394-51C>T r.(=) p.(=) g.67424483C>T Copied from the Exome Variant Server MIER1_000029 1/11756 1/8146 0/3610
?/? c.394-46A>G r.(=) p.(=) g.67424488A>G Copied from the Exome Variant Server MIER1_000031 569/11762 208/8144 361/3618
?/? c.394-37C>T r.(=) p.(=) g.67424497C>T Copied from the Exome Variant Server MIER1_000033 30/11760 28/8144 2/3616
?/? c.394-33C>T r.(=) p.(=) g.67424501C>T Copied from the Exome Variant Server MIER1_000035 1/11762 1/8148 0/3614
?/? c.394-16A>G r.(=) p.(=) g.67424518A>G Copied from the Exome Variant Server MIER1_000037 46/11770 0/8152 46/3618
?/? c.463T>A r.(?) p.(Ser155Thr) g.67424603T>A Copied from the Exome Variant Server MIER1_000039 1/11910 1/8190 0/3720
?/? c.496C>T r.(?) p.(Arg166Cys) g.67424636C>T Copied from the Exome Variant Server MIER1_000041 1/11874 1/8176 0/3698
?/? c.526+4A>G r.spl? p.? g.67424670A>G Copied from the Exome Variant Server MIER1_000043 3/11782 1/8148 2/3634
?/? c.526+43A>G r.(=) p.(=) g.67424709A>G Copied from the Exome Variant Server MIER1_000044 1/11680 0/8106 1/3574
?/? c.526+51T>C r.(=) p.(=) g.67424717T>C Copied from the Exome Variant Server MIER1_000045 1/11662 0/8098 1/3564
?/? c.527-51T>G r.(=) p.(=) g.67425311T>G Copied from the Exome Variant Server MIER1_000046 8950/11596 5922/8024 3028/3572
?/? c.591+9A>C r.(=) p.(=) g.67425435A>C Copied from the Exome Variant Server MIER1_000047 1/11578 1/8036 0/3542
?/? c.591+50A>T r.(=) p.(=) g.67425476A>T Copied from the Exome Variant Server MIER1_000048 317/11310 294/7850 23/3460
?/? c.591+69del r.(=) p.(=) g.67425495del Copied from the Exome Variant Server MIER1_000050 86/10036 68/6944 18/3092
?/? c.591+69dup r.(=) p.(=) g.67425495dup Copied from the Exome Variant Server MIER1_000049 6623/10036 4400/6944 2223/3092
?/? c.591+69_591+70insTT r.(=) p.(=) g.67425495_67425496insTT Copied from the Exome Variant Server MIER1_000051 322/10036 211/6944 111/3092
?/? c.592-44del r.(=) p.(=) g.67428727del Copied from the Exome Variant Server MIER1_000052 1/11296 1/7792 0/3504
?/? c.592-24T>C r.(=) p.(=) g.67428747T>C Copied from the Exome Variant Server MIER1_000053 4/11722 0/8122 4/3600
?/? c.597T>G r.(?) p.(Ile199Met) g.67428776T>G Copied from the Exome Variant Server MIER1_000054 1/11754 0/8138 1/3616
?/? c.615T>C r.(=) p.(=) g.67428794T>C Copied from the Exome Variant Server MIER1_000055 1/11796 0/8144 1/3652
?/? c.664+21C>T r.(=) p.(=) g.67428864C>T Copied from the Exome Variant Server MIER1_000056 1/11866 1/8162 0/3704
?/? c.665-45A>G r.(=) p.(=) g.67436446A>G Copied from the Exome Variant Server MIER1_000057 1542/11736 1423/8132 119/3604
?/? c.666A>G r.(=) p.(=) g.67436492A>G Copied from the Exome Variant Server MIER1_000058 1/11766 0/8144 1/3622
?/? c.684G>A r.(=) p.(=) g.67436510G>A Copied from the Exome Variant Server MIER1_000059 5/11812 0/8172 5/3640
?/? c.723G>A r.(=) p.(=) g.67436549G>A Copied from the Exome Variant Server MIER1_000060 1/11874 1/8200 0/3674
?/? c.792A>C r.(=) p.(=) g.67436618A>C Copied from the Exome Variant Server MIER1_000061 74/11926 2/8220 72/3706
?/? c.816+32C>T r.(=) p.(=) g.67436674C>T Copied from the Exome Variant Server MIER1_000062 1/11946 0/8212 1/3734
?/? c.898+17T>C r.(=) p.(=) g.67437436T>C Copied from the Exome Variant Server MIER1_000063 1/11690 0/8124 1/3566
?/? c.898+26A>G r.(=) p.(=) g.67437445A>G Copied from the Exome Variant Server MIER1_000064 1/11682 1/8116 0/3566
?/? c.899-54T>C r.(=) p.(=) g.67438526T>C Copied from the Exome Variant Server MIER1_000065 6/4564 0/3180 6/1384
?/? c.899-45A>T r.(=) p.(=) g.67438535A>T Copied from the Exome Variant Server MIER1_000066 2706/11780 2157/8146 549/3634
?/? c.899-29T>C r.(=) p.(=) g.67438551T>C Copied from the Exome Variant Server MIER1_000067 1/11798 0/8156 1/3642
?/? c.994-27del r.(=) p.(=) g.67442251del Copied from the Exome Variant Server MIER1_000068 391/11392 11/7846 380/3546
?/? c.994-3C>T r.spl? p.? g.67442275C>T Copied from the Exome Variant Server MIER1_000069 2744/11936 2175/8220 569/3716
?/? c.1059T>C r.(=) p.(=) g.67442343T>C Copied from the Exome Variant Server MIER1_000070 1/12012 0/8260 1/3752
?/? c.1122-37_1122-36del r.(=) p.(=) g.67447425_67447426del Copied from the Exome Variant Server MIER1_000071 43/10712 0/7418 43/3294
?/? c.1122-17_1122-16insT r.(=) p.(=) g.67447445_67447446insT Copied from the Exome Variant Server MIER1_000072 22/11236 1/7776 21/3460
?/? c.1122-12A>G r.(=) p.(=) g.67447450A>G Copied from the Exome Variant Server MIER1_000073 2691/11692 2177/8120 514/3572
?/? c.1147G>A r.(?) p.(Glu383Lys) g.67447487G>A Copied from the Exome Variant Server MIER1_000074 1/11952 1/8202 0/3750
?/? c.1204A>G r.(?) p.(Ser402Gly) g.67447544A>G Copied from the Exome Variant Server MIER1_000075 1/12150 0/8286 1/3864
?/? c.1261+14G>A r.(=) p.(=) g.67447615G>A Copied from the Exome Variant Server MIER1_000076 2/11968 1/8214 1/3754
?/? c.1261+26del r.(=) p.(=) g.67447627del Copied from the Exome Variant Server MIER1_000077 2/11472 2/7858 0/3614
?/? c.1261+46C>G r.(=) p.(=) g.67447647C>G Copied from the Exome Variant Server MIER1_000078 1/11916 1/8190 0/3726
?/? c.1262-39T>C r.(=) p.(=) g.67450216T>C Copied from the Exome Variant Server MIER1_000079 1/11704 1/8112 0/3592
?/? c.1270T>C r.(?) p.(Ser424Pro) g.67450263T>C Copied from the Exome Variant Server MIER1_000080 20/11764 19/8144 1/3620
?/? c.1302G>A r.(=) p.(=) g.67450295G>A Copied from the Exome Variant Server MIER1_000081 51/11794 0/8164 51/3630
?/? c.1320_1321insTTAC r.(?) p.(His442Leufs*4) g.67450313_67450314insTTAC Copied from the Exome Variant Server MIER1_000082 1/11400 1/7848 0/3552
?/? c.1341A>G r.(=) p.(=) g.67450334A>G Copied from the Exome Variant Server MIER1_000083 2/11878 0/8192 2/3686
?/? c.1347A>C r.(=) p.(=) g.67450340A>C Copied from the Exome Variant Server MIER1_000084 2/11882 2/8194 0/3688
?/? c.1351_1353del r.(?) p.(Lys452del) g.67450344_67450346del Copied from the Exome Variant Server MIER1_000085 3/11426 3/7864 0/3562
?/? c.1360C>T r.(?) p.(Leu454Phe) g.67450353C>T Copied from the Exome Variant Server MIER1_000086 1/11896 0/8198 1/3698
?/? c.1395_1396del r.(?) p.(Asp466*) g.67450388_67450389del Copied from the Exome Variant Server MIER1_000087 19/11450 11/7868 8/3582
?/? c.1402C>G r.(?) p.(Leu468Val) g.67450395C>G Copied from the Exome Variant Server MIER1_000088 1/11912 1/8198 0/3714
?/? c.1423G>A r.(?) p.(Ala475Thr) g.67450416G>A Copied from the Exome Variant Server MIER1_000089 4/11898 4/8194 0/3704
?/? c.1426C>T r.(?) p.(His476Tyr) g.67450419C>T Copied from the Exome Variant Server MIER1_000090 1/11894 1/8194 0/3700
?/? c.1438A>G r.(?) p.(Arg480Gly) g.67450431A>G Copied from the Exome Variant Server MIER1_000091 229/11856 213/8182 16/3674
?/? c.1505G>A r.(?) p.(Gly502Glu) g.67450498G>A Copied from the Exome Variant Server MIER1_000092 1/11788 1/8154 0/3634
?/? c.*9C>T r.(=) p.(=) g.67450592C>T Copied from the Exome Variant Server MIER1_000093 1/11736 0/8136 1/3600
?/? c.*33A>C r.(=) p.(=) g.67450616A>C Copied from the Exome Variant Server MIER1_000094 3/11718 0/8126 3/3592
?/? c.*1454A>G r.(=) p.(=) g.67452037A>G Copied from the Exome Variant Server MIER1_000095 1/11642 1/8094 0/3548
?/? c.*1469T>G r.(=) p.(=) g.67452052T>G Copied from the Exome Variant Server MIER1_000096 1/11660 1/8104 0/3556
?/? c.*1479_*1481del r.(=) p.(=) g.67452062_67452064del Copied from the Exome Variant Server MIER1_000097 37/11238 24/7778 13/3460
?/? c.*1516G>T r.(=) p.(=) g.67452099G>T Copied from the Exome Variant Server MIER1_000098 1/11772 1/8150 0/3622
?/? c.*1590T>C r.(=) p.(=) g.67452173T>C Copied from the Exome Variant Server MIER1_000099 3/11872 0/8168 3/3704
?/? c.*1624_*1625insA r.(=) p.(=) g.67452207_67452208insA Copied from the Exome Variant Server MIER1_000100 3/11500 3/7866 0/3634
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