All transcript variants in gene GBE1

Information The variants shown are described using the NM_000158.3 transcript reference sequence.

137 entries on 2 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.-35_-34insC r.(=) p.(=) g.81810702_81810703insG Copied from the Exome Variant Server GBE1_000137 10748/11084 7359/7576 3389/3508
?/? c.-28G>T r.(=) p.(=) g.81810696C>A Copied from the Exome Variant Server GBE1_000135 45/11660 0/7978 45/3682
?/? c.15G>A r.(?) p.(Met5Ile) g.81810654C>T Copied from the Exome Variant Server GBE1_000133 12/12002 12/8160 0/3842
?/? c.24G>A r.(=) p.(=) g.81810645C>T Copied from the Exome Variant Server GBE1_000131 24/12098 1/8212 23/3886
?/? c.25G>A r.(?) p.(Ala9Thr) g.81810644C>T Copied from the Exome Variant Server GBE1_000129 1/12110 1/8218 0/3892
?/? c.31C>T r.(?) p.(Pro11Ser) g.81810638G>A Copied from the Exome Variant Server GBE1_000127 1/12164 1/8246 0/3918
?/? c.45G>A r.(=) p.(=) g.81810624C>T Copied from the Exome Variant Server GBE1_000125 1/12224 1/8286 0/3938
?/? c.73G>A r.(?) p.(Val25Met) g.81810596C>T Copied from the Exome Variant Server GBE1_000123 1/12388 0/8332 1/4056
?/? c.74T>G r.(?) p.(Val25Gly) g.81810595A>C Copied from the Exome Variant Server GBE1_000121 3/12392 0/8332 3/4060
?/? c.118C>A r.(?) p.(Pro40Thr) g.81810551G>T Copied from the Exome Variant Server GBE1_000119 57/12370 14/8338 43/4032
?/? c.133T>G r.(?) p.(Phe45Val) g.81810536A>C Copied from the Exome Variant Server GBE1_000117 1/12276 1/8312 0/3964
?/? c.143+10G>T r.(=) p.(=) g.81810516C>A Copied from the Exome Variant Server GBE1_000115 1588/12194 1357/8282 231/3912
?/? c.143+11A>C r.(=) p.(=) g.81810515T>G Copied from the Exome Variant Server GBE1_000136 69/12194 0/8284 69/3910
?/? c.143+18C>G r.(=) p.(=) g.81810508G>C Copied from the Exome Variant Server GBE1_000134 1/12158 1/8272 0/3886
?/? c.143+24C>G r.(=) p.(=) g.81810502G>C Copied from the Exome Variant Server GBE1_000132 1/12072 1/8242 0/3830
?/? c.143+25C>T r.(=) p.(=) g.81810501G>A Copied from the Exome Variant Server GBE1_000130 42/12066 5/8242 37/3824
?/? c.143+36_143+39del r.(=) p.(=) g.81810487_81810490del Copied from the Exome Variant Server GBE1_000128 80/11486 59/7856 21/3630
?/? c.144-42T>C r.(=) p.(=) g.81754806A>G Copied from the Exome Variant Server GBE1_000126 3/11324 0/7884 3/3440
?/? c.173A>G r.(?) p.(Asn58Ser) g.81754735T>C Copied from the Exome Variant Server GBE1_000124 1/11806 1/8158 0/3648
?/? c.176T>C r.(?) p.(Ile59Thr) g.81754732A>G Copied from the Exome Variant Server GBE1_000122 76/11816 65/8160 11/3656
?/? c.180A>C r.(=) p.(=) g.81754728T>G Copied from the Exome Variant Server GBE1_000120 1/11816 0/8160 1/3656
?/? c.200A>G r.(?) p.(Asp67Gly) g.81754708T>C Copied from the Exome Variant Server GBE1_000118 1/11860 0/8174 1/3686
?/? c.231C>T r.(=) p.(=) g.81754677G>A Copied from the Exome Variant Server GBE1_000116 1/11884 1/8184 0/3700
?/? c.251G>A r.(?) p.(Gly84Asp) g.81754657C>T Copied from the Exome Variant Server GBE1_000114 1/11860 0/8168 1/3692
?/? c.278C>T r.(?) p.(Pro93Leu) g.81754630G>A Copied from the Exome Variant Server GBE1_000113 3/11818 3/8158 0/3660
?/? c.313+15G>A r.(=) p.(=) g.81754580C>T Copied from the Exome Variant Server GBE1_000112 3/11730 2/8130 1/3600
?/? c.313+36T>C r.(=) p.(=) g.81754559A>G Copied from the Exome Variant Server GBE1_000111 2/11566 0/8036 2/3530
?/? c.314-35A>G r.(=) p.(=) g.81720139T>C Copied from the Exome Variant Server GBE1_000110 1/11734 1/8134 0/3600
?/? c.333G>A r.(=) p.(=) g.81720085C>T Copied from the Exome Variant Server GBE1_000109 1/11810 0/8174 1/3636
?/? c.342C>T r.(=) p.(=) g.81720076G>A Copied from the Exome Variant Server GBE1_000108 921/11808 179/8176 742/3632
?/? c.346A>G r.(?) p.(Lys116Glu) g.81720072T>C Copied from the Exome Variant Server GBE1_000107 7/11806 0/8180 7/3626
?/? c.350T>C r.(?) p.(Leu117Pro) g.81720068A>G Copied from the Exome Variant Server GBE1_000106 10/11808 0/8180 10/3628
?/? c.405C>T r.(=) p.(=) g.81720013G>A Copied from the Exome Variant Server GBE1_000105 36/11826 31/8188 5/3638
?/? c.429G>T r.(?) p.(Lys143Asn) g.81719989C>A Copied from the Exome Variant Server GBE1_000104 1/11838 1/8168 0/3670
?/? c.429+5T>G r.spl? p.? g.81719984A>C Copied from the Exome Variant Server GBE1_000103 3/11846 0/8172 3/3674
?/? c.429+35T>C r.(=) p.(=) g.81719954A>G Copied from the Exome Variant Server GBE1_000102 44/11788 38/8152 6/3636
?/? c.429+45T>G r.(=) p.(=) g.81719944A>C Copied from the Exome Variant Server GBE1_000101 2/11736 2/8128 0/3608
?/? c.430del r.(?) p.(Val144*) g.81699072del Copied from the Exome Variant Server GBE1_000100 1/11454 1/7866 0/3588
?/? c.467G>A r.(?) p.(Arg156His) g.81699035C>T Copied from the Exome Variant Server GBE1_000099 1/11966 1/8222 0/3744
?/? c.477G>A r.(=) p.(=) g.81699025C>T Copied from the Exome Variant Server GBE1_000098 1/11968 0/8228 1/3740
?/? c.496C>T r.(?) p.(Arg166Cys) g.81699006G>A Copied from the Exome Variant Server GBE1_000097 2/11978 2/8232 0/3746
?/? c.555+14del r.(=) p.(=) g.81698933del Copied from the Exome Variant Server GBE1_000096 73/11324 25/7818 48/3506
?/? c.555+20A>G r.(=) p.(=) g.81698927T>C Copied from the Exome Variant Server GBE1_000095 2/11730 0/8136 2/3594
?/? c.555+22A>G r.(=) p.(=) g.81698925T>C Copied from the Exome Variant Server GBE1_000094 1/11728 1/8136 0/3592
?/? c.555+45T>C r.(=) p.(=) g.81698902A>G Copied from the Exome Variant Server GBE1_000093 1/11686 1/8118 0/3568
?/? c.556-22T>C r.(=) p.(=) g.81698164A>G Copied from the Exome Variant Server GBE1_000092 1/11688 1/8114 0/3574
?/? c.568A>G r.(?) p.(Arg190Gly) g.81698130T>C Copied from the Exome Variant Server GBE1_000091 3433/11708 2441/8122 992/3586
?/? c.579G>A r.(=) p.(=) g.81698119C>T Copied from the Exome Variant Server GBE1_000090 932/11714 201/8128 731/3586
?/? c.583C>T r.(?) p.(Arg195Trp) g.81698115G>A Copied from the Exome Variant Server GBE1_000089 1/11716 1/8122 0/3594
?/? c.584G>A r.(?) p.(Arg195Gln) g.81698114C>T Copied from the Exome Variant Server GBE1_000088 1/11704 1/8114 0/3590
?/? c.640G>T r.(?) p.(Ala214Ser) g.81698058C>A Copied from the Exome Variant Server GBE1_000087 1/11730 1/8124 0/3606
?/? c.674C>T r.(?) p.(Pro225Leu) g.81698024G>A Copied from the Exome Variant Server GBE1_000085 1/11710 0/8122 1/3588
?/? c.681C>A r.(=) p.(=) g.81698017G>T Copied from the Exome Variant Server GBE1_000083 1/11712 0/8122 1/3590
?/? c.691+2T>C r.spl? p.? g.81698005A>G Copied from the Exome Variant Server GBE1_000081 13/11684 13/8106 0/3578
?/? c.691+15T>C r.(=) p.(=) g.81697992A>G Copied from the Exome Variant Server GBE1_000079 1/11674 0/8100 1/3574
?/? c.691+46C>G r.(=) p.(=) g.81697961G>C Copied from the Exome Variant Server GBE1_000077 6/11634 0/8074 6/3560
?/? c.692-43_692-42insT r.(=) p.(=) g.81695675_81695676insA Copied from the Exome Variant Server GBE1_000075 12/11258 10/7790 2/3468
?/? c.701G>A r.(?) p.(Cys234Tyr) g.81695624C>T Copied from the Exome Variant Server GBE1_000073 1/11844 0/8166 1/3678
?/? c.782+44T>C r.(=) p.(=) g.81695499A>G Copied from the Exome Variant Server GBE1_000070 3/11756 0/8138 3/3618
?/? c.782+48T>G r.(=) p.(=) g.81695495A>C Copied from the Exome Variant Server GBE1_000068 1/11744 0/8136 1/3608
?/? c.783-45C>T r.(=) p.(=) g.81692186G>A Copied from the Exome Variant Server GBE1_000067 1/11952 1/8206 0/3746
?/? c.785G>A r.(?) p.(Arg262His) g.81692139C>T Copied from the Exome Variant Server GBE1_000065 1/12036 0/8242 1/3794
?/? c.788A>G r.(?) p.(Tyr263Cys) g.81692136T>C Copied from the Exome Variant Server GBE1_000086 1/12032 1/8242 0/3790
?/? c.839G>A r.(?) p.(Gly280Asp) g.81692085C>T Copied from the Exome Variant Server GBE1_000084 29/11998 28/8222 1/3776
?/? c.893A>G r.(?) p.(Asp298Gly) g.81692031T>C Copied from the Exome Variant Server GBE1_000082 1/11916 1/8200 0/3716
?/? c.986A>G r.(?) p.(Tyr329Cys) g.81691938T>C Copied from the Exome Variant Server GBE1_000080 6/11834 6/8168 0/3666
?/? c.990C>T r.(=) p.(=) g.81691934G>A Copied from the Exome Variant Server GBE1_000078 3/11828 0/8166 3/3662
?/? c.992+31A>G r.(=) p.(=) g.81691901T>C Copied from the Exome Variant Server GBE1_000076 1/11766 1/8134 0/3632
?/? c.993-19T>C r.(=) p.(=) g.81643193A>G Copied from the Exome Variant Server GBE1_000074 1/11682 0/8100 1/3582
?/? c.993-12C>G r.(=) p.(=) g.81643186G>C Copied from the Exome Variant Server GBE1_000072 1/11694 1/8112 0/3582
?/? c.1000A>G N/A N/A g.81643167T>C Copied from the Exome Variant Server GBE1_000071 11526/11770 7924/8154 3602/3616
?/? c.1049G>A r.(?) p.(Arg350His) g.81643118C>T Copied from the Exome Variant Server GBE1_000069 1/11922 1/8206 0/3716
?/? c.1080G>A r.(=) p.(=) g.81643087C>T Copied from the Exome Variant Server GBE1_000066 5/11972 0/8216 5/3756
?/? c.1083C>T r.(=) p.(=) g.81643084G>A Copied from the Exome Variant Server GBE1_000064 1/11970 0/8216 1/3754
?/? c.1109-30_1109-26del r.(=) p.(=) g.81640341_81640345del Copied from the Exome Variant Server GBE1_000063 2/11392 2/7838 0/3554
?/? c.1109-23C>T r.(=) p.(=) g.81640338G>A Copied from the Exome Variant Server GBE1_000062 2/11848 0/8180 2/3668
?/? c.1109-22G>A r.(=) p.(=) g.81640337C>T Copied from the Exome Variant Server GBE1_000061 1/11856 1/8184 0/3672
?/? c.1109-7T>C r.(=) p.(=) g.81640322A>G Copied from the Exome Variant Server GBE1_000060 1/11872 1/8198 0/3674
?/? c.1134T>G r.(?) p.(Ser378Arg) g.81640290A>C Copied from the Exome Variant Server GBE1_000059 14/11970 3/8226 11/3744
?/? c.1156G>T r.(?) p.(Asp386Tyr) g.81640268C>A Copied from the Exome Variant Server GBE1_000058 1/12086 1/8256 0/3830
?/? c.1168T>A r.(?) p.(Leu390Met) g.81640256A>T Copied from the Exome Variant Server GBE1_000057 1/12106 1/8256 0/3850
?/? c.1215C>T r.(=) p.(=) g.81640209G>A Copied from the Exome Variant Server GBE1_000056 1/12078 1/8244 0/3834
?/? c.1236+3A>G r.spl? p.? g.81640185T>C Copied from the Exome Variant Server GBE1_000055 1/12034 0/8222 1/3812
?/? c.1236+43G>C r.(=) p.(=) g.81640145C>G Copied from the Exome Variant Server GBE1_000054 1/11930 1/8202 0/3728
?/? c.1237-33T>C r.(=) p.(=) g.81635374A>G Copied from the Exome Variant Server GBE1_000051 1/11804 1/8166 0/3638
?/? c.1237-18C>T r.(=) p.(=) g.81635359G>A Copied from the Exome Variant Server GBE1_000049 7/11836 3/8166 4/3670
?/? c.1237-15C>T r.(=) p.(=) g.81635356G>A Copied from the Exome Variant Server GBE1_000047 6/11858 2/8174 4/3684
?/? c.1285G>A r.(?) p.(Gly429Ser) g.81635293C>T Copied from the Exome Variant Server GBE1_000053 1/11918 0/8192 1/3726
?/? c.1335+23T>C r.(=) p.(=) g.81635220A>G Copied from the Exome Variant Server GBE1_000052 1/11742 1/8130 0/3612
?/? c.1335+49T>G r.(=) p.(=) g.81635194A>C Copied from the Exome Variant Server GBE1_000050 4/11706 0/8116 4/3590
?/? c.1336-50A>G r.(=) p.(=) g.81630476T>C Copied from the Exome Variant Server GBE1_000048 1/6034 0/4164 1/1870
?/? c.1336-30C>T r.(=) p.(=) g.81630456G>A Copied from the Exome Variant Server GBE1_000046 1/11782 0/8148 1/3634
?/? c.1336-1G>A r.spl? p.? g.81630427C>T Copied from the Exome Variant Server GBE1_000045 1/11842 1/8176 0/3666
?/? c.1388C>T r.(?) p.(Thr463Met) g.81630374G>A Copied from the Exome Variant Server GBE1_000044 1/11954 1/8204 0/3750
?/? c.1418G>T r.(?) p.(Cys473Phe) g.81630344C>A Copied from the Exome Variant Server GBE1_000043 1/11972 1/8210 0/3762
?/? c.1440T>C r.(=) p.(=) g.81630322A>G Copied from the Exome Variant Server GBE1_000042 1/11944 1/8198 0/3746
?/? c.1441G>A r.(?) p.(Asp481Asn) g.81630321C>T Copied from the Exome Variant Server GBE1_000041 1/11940 0/8198 1/3742
?/? c.1446+12T>C r.(=) p.(=) g.81630304A>G Copied from the Exome Variant Server GBE1_000040 1/11924 0/8188 1/3736
?/? c.1446+45_1446+46del r.(=) p.(=) g.81630270_81630271del Copied from the Exome Variant Server GBE1_000039 770/11382 547/7818 223/3564
?/? c.1447-43C>A r.(=) p.(=) g.81627290G>T Copied from the Exome Variant Server GBE1_000038 3/11778 1/8146 2/3632
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