Unique variants in gene GABRE

Information The variants shown are described using the NM_004961.3 transcript reference sequence.

105 entries on 2 pages. Showing entries 1 - 100.
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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.-51A>G r.(=) p.(=) g.151143148T>C Copied from the Exome Variant Server GABRE_000016 1/10378 1/6604 0/3774
1 c.-28G>C r.(=) p.(=) g.151143125C>G Copied from the Exome Variant Server GABRE_000015 1/10505 0/6685 1/3820
1 c.-22G>T r.(=) p.(=) g.151143119C>A Copied from the Exome Variant Server GABRE_000014 65/10508 0/6686 65/3822
1 c.-18G>T r.(=) p.(=) g.151143115C>A Copied from the Exome Variant Server GABRE_000013 2/10515 2/6693 0/3822
1 c.-15C>T r.(=) p.(=) g.151143112G>A Copied from the Exome Variant Server GABRE_000012 3/10524 0/6701 3/3823
1 c.-7C>G r.(=) p.(=) g.151143104G>C Copied from the Exome Variant Server GABRE_000011 1/10534 0/6709 1/3825
1 c.28C>G r.(?) p.(Leu10Val) g.151143070G>C Copied from the Exome Variant Server GABRE_000010 1/10539 0/6716 1/3823
1 c.56+50C>T r.(=) p.(=) g.151142992G>A Copied from the Exome Variant Server GABRE_000009 6/10140 4/6437 2/3703
1 c.56+60C>A r.(=) p.(=) g.151142982G>T Copied from the Exome Variant Server GABRE_000008 1707/3599 797/2390 910/1209
1 c.57-38T>C r.(=) p.(=) g.151138912A>G Copied from the Exome Variant Server GABRE_000007 1/10562 1/6727 0/3835
1 c.61G>A r.(?) p.(Glu21Lys) g.151138870C>T Copied from the Exome Variant Server GABRE_000006 1/10563 0/6728 1/3835
1 c.100C>T r.(?) p.(Arg34Cys) g.151138831G>A Copied from the Exome Variant Server GABRE_000005 158/10563 2/6728 156/3835
1 c.113A>G r.(?) p.(Tyr38Cys) g.151138818T>C Copied from the Exome Variant Server GABRE_000004 50/10563 50/6728 0/3835
1 c.154G>A r.(?) p.(Glu52Lys) g.151138777C>T Copied from the Exome Variant Server GABRE_000003 50/10563 50/6728 0/3835
1 c.167C>T r.(?) p.(Ser56Leu) g.151138764G>A Copied from the Exome Variant Server GABRE_000002 1/10563 1/6728 0/3835
1 c.186G>A r.(=) p.(=) g.151138745C>T Copied from the Exome Variant Server GABRE_000001 101/10563 94/6728 7/3835
1 c.187A>C r.(?) p.(Ser63Arg) g.151138744T>G Copied from the Exome Variant Server GABRE_000098 20/10563 0/6728 20/3835
1 c.196G>A r.(?) p.(Gly66Ser) g.151138735C>T Copied from the Exome Variant Server GABRE_000097 6/10563 6/6728 0/3835
1 c.259C>T r.(?) p.(Arg87Cys) g.151138672G>A Copied from the Exome Variant Server GABRE_000096 1/10563 1/6728 0/3835
1 c.260G>A r.(?) p.(Arg87His) g.151138671C>T Copied from the Exome Variant Server GABRE_000095 1/10563 1/6728 0/3835
1 c.261C>T r.(=) p.(=) g.151138670G>A Copied from the Exome Variant Server GABRE_000094 4/10563 0/6728 4/3835
1 c.274+15G>A r.(=) p.(=) g.151138642C>T Copied from the Exome Variant Server GABRE_000093 1/10563 1/6728 0/3835
1 c.274+17C>T r.(=) p.(=) g.151138640G>A Copied from the Exome Variant Server GABRE_000092 4/10563 1/6728 3/3835
1 c.274+18G>A r.(=) p.(=) g.151138639C>T Copied from the Exome Variant Server GABRE_000091 20/10563 1/6728 19/3835
1 c.275-45C>T r.(=) p.(=) g.151138253G>A Copied from the Exome Variant Server GABRE_000090 1/10563 0/6728 1/3835
1 c.275-44G>A r.(=) p.(=) g.151138252C>T Copied from the Exome Variant Server GABRE_000089 142/10563 1/6728 141/3835
1 c.275-40G>A r.(=) p.(=) g.151138248C>T Copied from the Exome Variant Server GABRE_000088 31/10563 29/6728 2/3835
1 c.286G>A r.(?) p.(Val96Met) g.151138197C>T Copied from the Exome Variant Server GABRE_000087 1/10563 0/6728 1/3835
1 c.304T>G r.(?) p.(Ser102Ala) g.151138179A>C Copied from the Exome Variant Server GABRE_000086 6444/10563 4511/6728 1933/3835
1 c.306C>T r.(=) p.(=) g.151138177G>A Copied from the Exome Variant Server GABRE_000085 1/10563 1/6728 0/3835
1 c.307G>A r.(?) p.(Val103Ile) g.151138176C>T Copied from the Exome Variant Server GABRE_000084 10/10563 0/6728 10/3835
1 c.343-33C>G r.(=) p.(=) g.151131148G>C Copied from the Exome Variant Server GABRE_000083 2/10563 2/6728 0/3835
1 c.343-5A>G r.spl? p.? g.151131120T>C Copied from the Exome Variant Server GABRE_000082 3/10563 3/6728 0/3835
1 c.385G>A r.(?) p.(Glu129Lys) g.151131073C>T Copied from the Exome Variant Server GABRE_000100 1/10563 0/6728 1/3835
1 c.450A>G r.(=) p.(=) g.151131008T>C Copied from the Exome Variant Server GABRE_000099 1/10563 1/6728 0/3835
1 c.458C>T r.(?) p.(Pro153Leu) g.151131000G>A Copied from the Exome Variant Server GABRE_000105 1/10563 1/6728 0/3835
1 c.466T>A r.(?) p.(Phe156Ile) g.151130992A>T Copied from the Exome Variant Server GABRE_000104 1/10563 0/6728 1/3835
1 c.527G>A r.(?) p.(Arg176His) g.151130931C>T Copied from the Exome Variant Server GABRE_000103 1/10563 1/6728 0/3835
1 c.563+15T>C r.(=) p.(=) g.151130880A>G Copied from the Exome Variant Server GABRE_000102 47/10563 1/6728 46/3835
1 c.579C>T r.(=) p.(=) g.151129822G>A Copied from the Exome Variant Server GABRE_000101 2985/10563 824/6728 2161/3835
1 c.580G>A r.(?) p.(Gly194Arg) g.151129821C>T Copied from the Exome Variant Server GABRE_000081 1/10563 1/6728 0/3835
1 c.646+21C>G r.(=) p.(=) g.151129734G>C Copied from the Exome Variant Server GABRE_000080 1/10563 0/6728 1/3835
1 c.646+26G>A r.(=) p.(=) g.151129729C>T Copied from the Exome Variant Server GABRE_000079 2/10563 0/6728 2/3835
1 c.664G>A r.(?) p.(Glu222Lys) g.151128431C>T Copied from the Exome Variant Server GABRE_000078 2/10563 0/6728 2/3835
1 c.678G>A r.(=) p.(=) g.151128417C>T Copied from the Exome Variant Server GABRE_000077 9/10563 9/6728 0/3835
1 c.696T>G r.(=) p.(=) g.151128399A>C Copied from the Exome Variant Server GABRE_000076 1/10563 1/6728 0/3835
1 c.698A>T r.(?) p.(Glu233Val) g.151128397T>A Copied from the Exome Variant Server GABRE_000075 1/10563 1/6728 0/3835
1 c.768A>G r.(?) p.(Ile256Met) g.151128327T>C Copied from the Exome Variant Server GABRE_000074 1/10563 1/6728 0/3835
1 c.784+22G>A r.(=) p.(=) g.151128289C>T Copied from the Exome Variant Server GABRE_000073 6/10563 5/6728 1/3835
1 c.784+26G>A r.(=) p.(=) g.151128285C>T Copied from the Exome Variant Server GABRE_000072 48/10563 0/6728 48/3835
1 c.784+65A>C r.(=) p.(=) g.151128246T>G Copied from the Exome Variant Server GABRE_000071 38/3600 0/2391 38/1209
1 c.784+67A>G r.(=) p.(=) g.151128244T>C Copied from the Exome Variant Server GABRE_000041 1/3600 1/2391 0/1209
1 c.784+95A>G r.(=) p.(=) g.151128216T>C Copied from the Exome Variant Server GABRE_000040 2/8125 2/5498 0/2627
1 c.784+102A>G r.(=) p.(=) g.151128209T>C Copied from the Exome Variant Server GABRE_000039 1/8125 0/5498 1/2627
1 c.784+222G>A r.(=) p.(=) g.151128089C>T Copied from the Exome Variant Server GABRE_000038 1/8125 1/5498 0/2627
1 c.784+258C>T r.(=) p.(=) g.151128053G>A Copied from the Exome Variant Server GABRE_000037 1/8125 0/5498 1/2627
1 c.784+1206G>A r.(=) p.(=) g.151127105C>T Copied from the Exome Variant Server GABRE_000036 10/8125 3/5498 7/2627
1 c.784+1219T>C r.(=) p.(=) g.151127092A>G Copied from the Exome Variant Server GABRE_000035 16/8125 0/5498 16/2627
1 c.784+1221G>A r.(=) p.(=) g.151127090C>T Copied from the Exome Variant Server GABRE_000034 1/8125 1/5498 0/2627
1 c.784+1271C>T r.(=) p.(=) g.151127040G>A Copied from the Exome Variant Server GABRE_000033 1/8124 0/5497 1/2627
1 c.784+1279_784+1281del r.(=) p.(=) g.151127030_151127032del Copied from the Exome Variant Server GABRE_000032 36/9411 15/5887 21/3524
1 c.785-46C>T r.(=) p.(=) g.151124378G>A Copied from the Exome Variant Server GABRE_000031 9/10563 8/6728 1/3835
1 c.785-12_785-11insT r.(=) p.(=) g.151124343_151124344insA Copied from the Exome Variant Server GABRE_000030 1/10201 1/6484 0/3717
1 c.817G>A r.(?) p.(Val273Met) g.151124300C>T Copied from the Exome Variant Server GABRE_000029 1/10563 0/6728 1/3835
1 c.833G>C r.(?) p.(Gly278Ala) g.151124284C>G Copied from the Exome Variant Server GABRE_000028 13/10563 11/6728 2/3835
1 c.867C>T r.(=) p.(=) g.151124250G>A Copied from the Exome Variant Server GABRE_000027 5/10563 0/6728 5/3835
1 c.868G>A r.(?) p.(Val290Met) g.151124249C>T Copied from the Exome Variant Server GABRE_000026 2/10563 0/6728 2/3835
1 c.875C>A r.(?) p.(Thr292Lys) g.151124242G>T Copied from the Exome Variant Server GABRE_000025 1/10563 1/6728 0/3835
1 c.937+23G>A r.(=) p.(=) g.151124157C>T Copied from the Exome Variant Server GABRE_000024 1/10563 1/6728 0/3835
1 c.937+36G>T r.(=) p.(=) g.151124144C>A Copied from the Exome Variant Server GABRE_000023 19/10563 0/6728 19/3835
1 c.938-52C>T r.(=) p.(=) g.151124091G>A Copied from the Exome Variant Server GABRE_000022 1/6038 1/3621 0/2417
1 c.938-45G>A r.(=) p.(=) g.151124084C>T Copied from the Exome Variant Server GABRE_000021 2/10563 1/6728 1/3835
1 c.938-30G>A r.(=) p.(=) g.151124069C>T Copied from the Exome Variant Server GABRE_000020 1/10563 0/6728 1/3835
1 c.938-19C>T r.(=) p.(=) g.151124058G>A Copied from the Exome Variant Server GABRE_000019 11/10563 10/6728 1/3835
1 c.967T>C r.(=) p.(=) g.151124010A>G Copied from the Exome Variant Server GABRE_000018 148/10563 0/6728 148/3835
1 c.995C>T r.(?) p.(Pro332Leu) g.151123982G>A Copied from the Exome Variant Server GABRE_000017 1/10563 0/6728 1/3835
1 c.996G>A r.(=) p.(=) g.151123981C>T Copied from the Exome Variant Server GABRE_000066 1/10563 0/6728 1/3835
1 c.1033G>A r.(?) p.(Ala345Thr) g.151123944C>T Copied from the Exome Variant Server GABRE_000065 4/10563 3/6728 1/3835
1 c.1059C>G r.(?) p.(Cys353Trp) g.151123918G>C Copied from the Exome Variant Server GABRE_000064 1/10563 0/6728 1/3835
1 c.1102C>T r.(?) p.(Gln368*) g.151123875G>A Copied from the Exome Variant Server GABRE_000063 1/10563 1/6728 0/3835
1 c.1114C>T r.(?) p.(His372Tyr) g.151123863G>A Copied from the Exome Variant Server GABRE_000062 92/10563 0/6728 92/3835
1 c.1134C>T r.(=) p.(=) g.151123843G>A Copied from the Exome Variant Server GABRE_000061 2/10563 1/6728 1/3835
1 c.1137+43A>G r.(=) p.(=) g.151123797T>C Copied from the Exome Variant Server GABRE_000060 1/10563 1/6728 0/3835
1 c.1138-44A>C r.(=) p.(=) g.151123600T>G Copied from the Exome Variant Server GABRE_000059 15/10547 0/6716 15/3831
1 c.1138-19C>A r.(=) p.(=) g.151123575G>T Copied from the Exome Variant Server GABRE_000058 1/10562 0/6727 1/3835
1 c.1225A>T r.(?) p.(Ile409Phe) g.151123469T>A Copied from the Exome Variant Server GABRE_000057 2/10561 2/6726 0/3835
1 c.1228G>T r.(?) p.(Val410Phe) g.151123466C>A Copied from the Exome Variant Server GABRE_000056 1/10561 1/6726 0/3835
1 c.1258C>T r.(?) p.(Arg420Cys) g.151123436G>A Copied from the Exome Variant Server GABRE_000055 1/10562 1/6727 0/3835
1 c.1259G>A r.(?) p.(Arg420His) g.151123435C>T Copied from the Exome Variant Server GABRE_000054 2/10562 0/6727 2/3835
1 c.1262C>T r.(?) p.(Pro421Leu) g.151123432G>A Copied from the Exome Variant Server GABRE_000053 14/10563 0/6728 14/3835
1 c.1273G>A r.(?) p.(Ala425Thr) g.151123421C>T Copied from the Exome Variant Server GABRE_000052 3/10563 3/6728 0/3835
1 c.1287T>A r.(=) p.(=) g.151123407A>T Copied from the Exome Variant Server GABRE_000051 1/10563 0/6728 1/3835
1 c.1305G>C r.(?) p.(Glu435Asp) g.151123389C>G Copied from the Exome Variant Server GABRE_000050 54/10563 0/6728 54/3835
1 c.1310C>T r.(?) p.(Pro437Leu) g.151123384G>A Copied from the Exome Variant Server GABRE_000049 385/10563 358/6728 27/3835
1 c.1312C>T r.(?) p.(Arg438Cys) g.151123382G>A Copied from the Exome Variant Server GABRE_000048 7/10563 0/6728 7/3835
1 c.1313G>A r.(?) p.(Arg438His) g.151123381C>T Copied from the Exome Variant Server GABRE_000047 1/10563 1/6728 0/3835
1 c.1323C>T r.(=) p.(=) g.151123371G>A Copied from the Exome Variant Server GABRE_000046 1/10563 1/6728 0/3835
1 c.1354C>G r.(?) p.(Arg452Gly) g.151123340G>C Copied from the Exome Variant Server GABRE_000045 112/10563 1/6728 111/3835
1 c.1372T>C r.(?) p.(Cys458Arg) g.151123322A>G Copied from the Exome Variant Server GABRE_000044 1/10563 0/6728 1/3835
1 c.1388G>T r.(?) p.(Cys463Phe) g.151123306C>A Copied from the Exome Variant Server GABRE_000043 2/10563 0/6728 2/3835
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