All transcript variants in gene GAD2

Information The variants shown are described using the NM_000818.2 transcript reference sequence.

123 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.-54G>A r.(=) p.(=) g.26505685G>A Copied from the Exome Variant Server GAD2_000001 1/4566 0/3182 1/1384
?/? c.-45C>T r.(=) p.(=) g.26505694C>T Copied from the Exome Variant Server GAD2_000002 293/13006 5/8600 288/4406
?/? c.-37C>T r.(=) p.(=) g.26505702C>T Copied from the Exome Variant Server GAD2_000003 1/13006 1/8600 0/4406
?/? c.33C>T r.(=) p.(=) g.26505771C>T Copied from the Exome Variant Server GAD2_000004 533/13006 9/8600 524/4406
?/? c.63G>A r.(=) p.(=) g.26505801G>A Copied from the Exome Variant Server GAD2_000005 3/13006 3/8600 0/4406
?/? c.76+8G>A r.(=) p.(=) g.26505822G>A Copied from the Exome Variant Server GAD2_000006 2587/13006 1474/8600 1113/4406
?/? c.76+19G>A r.(=) p.(=) g.26505833G>A Copied from the Exome Variant Server GAD2_000007 1/13006 1/8600 0/4406
?/? c.76+23G>T r.(=) p.(=) g.26505837G>T Copied from the Exome Variant Server GAD2_000008 12/13006 0/8600 12/4406
?/? c.77-14A>G r.(=) p.(=) g.26506525A>G Copied from the Exome Variant Server GAD2_000009 1/13006 0/8600 1/4406
?/? c.120C>T r.(=) p.(=) g.26506582C>T Copied from the Exome Variant Server GAD2_000010 1/13006 0/8600 1/4406
?/? c.124A>C r.(?) p.(Asn42His) g.26506586A>C Copied from the Exome Variant Server GAD2_000011 1/13006 0/8600 1/4406
?/? c.135C>T r.(=) p.(=) g.26506597C>T Copied from the Exome Variant Server GAD2_000012 1/13006 1/8600 0/4406
?/? c.136+50C>A r.(=) p.(=) g.26506648C>A Copied from the Exome Variant Server GAD2_000013 2/12992 0/8594 2/4398
?/? c.137-43C>G r.(=) p.(=) g.26506728C>G Copied from the Exome Variant Server GAD2_000014 9/12510 0/8290 9/4220
?/? c.137-42G>A r.(=) p.(=) g.26506729G>A Copied from the Exome Variant Server GAD2_000015 1/12490 1/8280 0/4210
?/? c.137-19G>T r.(=) p.(=) g.26506752G>T Copied from the Exome Variant Server GAD2_000016 289/12566 5/8304 284/4262
?/? c.148G>C r.(?) p.(Gly50Arg) g.26506782G>C Copied from the Exome Variant Server GAD2_000017 1/12564 0/8296 1/4268
?/? c.156C>T r.(=) p.(=) g.26506790C>T Copied from the Exome Variant Server GAD2_000018 6/12516 0/8266 6/4250
?/? c.177_178insG r.(?) p.(Ser61Glufs*42) g.26506811_26506812insG Copied from the Exome Variant Server GAD2_000019 107/11094 59/7422 48/3672
?/? c.201C>G r.(=) p.(=) g.26506835C>G Copied from the Exome Variant Server GAD2_000020 1/12854 0/8508 1/4346
?/? c.215C>T r.(?) p.(Ala72Val) g.26506849C>T Copied from the Exome Variant Server GAD2_000021 1/12974 1/8584 0/4390
?/? c.225C>T r.(=) p.(=) g.26506859C>T Copied from the Exome Variant Server GAD2_000022 11/12980 6/8586 5/4394
?/? c.258T>C r.(=) p.(=) g.26506892T>C Copied from the Exome Variant Server GAD2_000023 4/12998 4/8592 0/4406
?/? c.287-31T>C r.(=) p.(=) g.26507941T>C Copied from the Exome Variant Server GAD2_000024 1/13004 0/8598 1/4406
?/? c.287-30A>G r.(=) p.(=) g.26507942A>G Copied from the Exome Variant Server GAD2_000025 1/13004 1/8598 0/4406
?/? c.287-9A>G r.(=) p.(=) g.26507963A>G Copied from the Exome Variant Server GAD2_000026 1/13006 1/8600 0/4406
?/? c.304G>A r.(?) p.(Asp102Asn) g.26507989G>A Copied from the Exome Variant Server GAD2_000027 3/13006 3/8600 0/4406
?/? c.346A>T r.(?) p.(Asn116Tyr) g.26508031A>T Copied from the Exome Variant Server GAD2_000028 2/13006 1/8600 1/4406
?/? c.365T>C r.(?) p.(Val122Ala) g.26508050T>C Copied from the Exome Variant Server GAD2_000029 1/13006 1/8600 0/4406
?/? c.367G>C r.(?) p.(Val123Leu) g.26508052G>C Copied from the Exome Variant Server GAD2_000031 1/13006 1/8600 0/4406
?/? c.372A>C r.(?) p.(Lys124Asn) g.26508057A>C Copied from the Exome Variant Server GAD2_000033 4/13006 0/8600 4/4406
?/? c.376T>C r.(?) p.(Phe126Leu) g.26508061T>C Copied from the Exome Variant Server GAD2_000030 1/13006 0/8600 1/4406
?/? c.441G>C r.(?) p.(Trp147Cys) g.26508126G>C Copied from the Exome Variant Server GAD2_000032 1/13006 0/8600 1/4406
?/? c.458C>A r.(?) p.(Pro153Gln) g.26508143C>A Copied from the Exome Variant Server GAD2_000034 72/13006 64/8600 8/4406
?/? c.520+8C>T r.(=) p.(=) g.26508213C>T Copied from the Exome Variant Server GAD2_000035 1/13004 1/8598 0/4406
?/? c.521-16A>G r.(=) p.(=) g.26512800A>G Copied from the Exome Variant Server GAD2_000036 1/13006 1/8600 0/4406
?/? c.549T>C r.(=) p.(=) g.26512844T>C Copied from the Exome Variant Server GAD2_000037 1/13006 1/8600 0/4406
?/? c.552T>G r.(=) p.(=) g.26512847T>G Copied from the Exome Variant Server GAD2_000038 1/13006 0/8600 1/4406
?/? c.566T>C r.(?) p.(Val189Ala) g.26512861T>C Copied from the Exome Variant Server GAD2_000039 1/13006 0/8600 1/4406
?/? c.594A>G r.(=) p.(=) g.26512889A>G Copied from the Exome Variant Server GAD2_000040 1/13006 0/8600 1/4406
?/? c.611+8G>A r.(=) p.(=) g.26512914G>A Copied from the Exome Variant Server GAD2_000041 3/13006 0/8600 3/4406
?/? c.612-35T>C r.(=) p.(=) g.26513433T>C Copied from the Exome Variant Server GAD2_000042 1/13006 0/8600 1/4406
?/? c.612G>A r.(?) p.(Met204Ile) g.26513468G>A Copied from the Exome Variant Server GAD2_000043 31/13006 25/8600 6/4406
?/? c.678A>G r.(=) p.(=) g.26513534A>G Copied from the Exome Variant Server GAD2_000044 1/13006 1/8600 0/4406
?/? c.683T>C r.(?) p.(Ile228Thr) g.26513539T>C Copied from the Exome Variant Server GAD2_000045 5/13006 2/8600 3/4406
?/? c.695G>A r.(?) p.(Gly232Glu) g.26513551G>A Copied from the Exome Variant Server GAD2_000046 97/13006 88/8600 9/4406
?/? c.705C>T r.(=) p.(=) g.26513561C>T Copied from the Exome Variant Server GAD2_000047 52/13006 47/8600 5/4406
?/? c.724+28T>C r.(=) p.(=) g.26513608T>C Copied from the Exome Variant Server GAD2_000048 3/13006 0/8600 3/4406
?/? c.724+43T>C r.(=) p.(=) g.26513623T>C Copied from the Exome Variant Server GAD2_000049 1/13006 1/8600 0/4406
?/? c.729C>T r.(=) p.(=) g.26518595C>T Copied from the Exome Variant Server GAD2_000050 2/13006 0/8600 2/4406
?/? c.730G>A r.(?) p.(Ala244Thr) g.26518596G>A Copied from the Exome Variant Server GAD2_000051 1/13006 0/8600 1/4406
?/? c.759C>T r.(=) p.(=) g.26518625C>T Copied from the Exome Variant Server GAD2_000052 1/13006 1/8600 0/4406
?/? c.805G>A r.(?) p.(Ala269Thr) g.26518671G>A Copied from the Exome Variant Server GAD2_000053 46/13006 41/8600 5/4406
?/? c.814A>T r.(?) p.(Arg272Trp) g.26518680A>T Copied from the Exome Variant Server GAD2_000054 1/13006 1/8600 0/4406
?/? c.822T>A r.(=) p.(=) g.26518688T>A Copied from the Exome Variant Server GAD2_000055 1/13006 0/8600 1/4406
?/? c.840+26_840+31del r.(=) p.(=) g.26518732_26518737del Copied from the Exome Variant Server GAD2_000056 2/12518 1/8254 1/4264
?/? c.840+31G>C r.(=) p.(=) g.26518737G>C Copied from the Exome Variant Server GAD2_000057 1/13006 1/8600 0/4406
?/? c.840+32del r.(=) p.(=) g.26518738del Copied from the Exome Variant Server GAD2_000058 7/12518 1/8254 6/4264
?/? c.840+42T>C r.(=) p.(=) g.26518748T>C Copied from the Exome Variant Server GAD2_000059 1/13006 0/8600 1/4406
?/? c.840+43A>G r.(=) p.(=) g.26518749A>G Copied from the Exome Variant Server GAD2_000060 4/13006 3/8600 1/4406
?/? c.840+50G>C r.(=) p.(=) g.26518756G>C Copied from the Exome Variant Server GAD2_000061 1/13004 1/8598 0/4406
?/? c.841-41G>T r.(=) p.(=) g.26534809G>T Copied from the Exome Variant Server GAD2_000062 2240/12992 820/8598 1420/4394
?/? c.841-13del r.(=) p.(=) g.26534837del Copied from the Exome Variant Server GAD2_000063 380/12516 5/8254 375/4262
?/? c.881T>C r.(?) p.(Ile294Thr) g.26534890T>C Copied from the Exome Variant Server GAD2_000064 8/13006 2/8600 6/4406
?/? c.920+8C>T r.(=) p.(=) g.26534937C>T Copied from the Exome Variant Server GAD2_000065 914/13006 821/8600 93/4406
?/? c.920+20T>A r.(=) p.(=) g.26534949T>A Copied from the Exome Variant Server GAD2_000066 1/13006 0/8600 1/4406
?/? c.920+35A>G r.(=) p.(=) g.26534964A>G Copied from the Exome Variant Server GAD2_000067 6/13006 6/8600 0/4406
?/? c.921-51G>A r.(=) p.(=) g.26557997G>A Copied from the Exome Variant Server GAD2_000068 1/13002 0/8600 1/4402
?/? c.921-48G>A r.(=) p.(=) g.26558000G>A Copied from the Exome Variant Server GAD2_000069 1/13004 1/8600 0/4404
?/? c.921-20A>G r.(=) p.(=) g.26558028A>G Copied from the Exome Variant Server GAD2_000070 92/13006 84/8600 8/4406
?/? c.921-10T>C r.(=) p.(=) g.26558038T>C Copied from the Exome Variant Server GAD2_000071 1/13006 1/8600 0/4406
?/? c.924G>A r.(=) p.(=) g.26558051G>A Copied from the Exome Variant Server GAD2_000072 3/13006 0/8600 3/4406
?/? c.938C>T r.(?) p.(Ser313Phe) g.26558065C>T Copied from the Exome Variant Server GAD2_000073 1/13006 0/8600 1/4406
?/? c.960T>C r.(=) p.(=) g.26558087T>C Copied from the Exome Variant Server GAD2_000074 1/13006 0/8600 1/4406
?/? c.975+14G>T r.(=) p.(=) g.26558116G>T Copied from the Exome Variant Server GAD2_000075 1/13006 1/8600 0/4406
?/? c.976-12T>C r.(=) p.(=) g.26559557T>C Copied from the Exome Variant Server GAD2_000076 1/13006 0/8600 1/4406
?/? c.976-10G>A r.(=) p.(=) g.26559559G>A Copied from the Exome Variant Server GAD2_000077 35/13006 9/8600 26/4406
?/? c.976-9T>C r.(=) p.(=) g.26559560T>C Copied from the Exome Variant Server GAD2_000078 3/13006 0/8600 3/4406
?/? c.978G>C r.(=) p.(=) g.26559571G>C Copied from the Exome Variant Server GAD2_000080 1004/13006 904/8600 100/4406
?/? c.1017C>T r.(=) p.(=) g.26559610C>T Copied from the Exome Variant Server GAD2_000082 185/13006 165/8600 20/4406
?/? c.1036C>T r.(?) p.(Pro346Ser) g.26559629C>T Copied from the Exome Variant Server GAD2_000084 2/13006 0/8600 2/4406
?/? c.1092+42C>T r.(=) p.(=) g.26559727C>T Copied from the Exome Variant Server GAD2_000079 103/13006 1/8600 102/4406
?/? c.1093-64C>T r.(=) p.(=) g.26562501C>T Copied from the Exome Variant Server GAD2_000081 1/4566 0/3182 1/1384
?/? c.1093-60A>G r.(=) p.(=) g.26562505A>G Copied from the Exome Variant Server GAD2_000083 23/4566 0/3182 23/1384
?/? c.1093-45G>A r.(=) p.(=) g.26562520G>A Copied from the Exome Variant Server GAD2_000085 1/13006 0/8600 1/4406
?/? c.1093-35A>G r.(=) p.(=) g.26562530A>G Copied from the Exome Variant Server GAD2_000086 147/13006 4/8600 143/4406
?/? c.1093-27C>T r.(=) p.(=) g.26562538C>T Copied from the Exome Variant Server GAD2_000087 1/13006 0/8600 1/4406
?/? c.1107G>A r.(=) p.(=) g.26562579G>A Copied from the Exome Variant Server GAD2_000088 98/13006 1/8600 97/4406
?/? c.1124G>T r.(?) p.(Arg375Leu) g.26562596G>T Copied from the Exome Variant Server GAD2_000089 2/13006 0/8600 2/4406
?/? c.1157+46A>T r.(=) p.(=) g.26562675A>T Copied from the Exome Variant Server GAD2_000090 1/13006 0/8600 1/4406
?/? c.1157+49G>A r.(=) p.(=) g.26562678G>A Copied from the Exome Variant Server GAD2_000091 1/13006 1/8600 0/4406
?/? c.1157+65A>G r.(=) p.(=) g.26562694A>G Copied from the Exome Variant Server GAD2_000092 1/4566 0/3182 1/1384
?/? c.1158-46C>G r.(=) p.(=) g.26569892C>G Copied from the Exome Variant Server GAD2_000093 6/13006 0/8600 6/4406
?/? c.1158-14del r.(=) p.(=) g.26569924del Copied from the Exome Variant Server GAD2_000094 19/12518 14/8254 5/4264
?/? c.1236+8T>C r.(=) p.(=) g.26570024T>C Copied from the Exome Variant Server GAD2_000095 1/13006 1/8600 0/4406
?/? c.1236+43T>C r.(=) p.(=) g.26570059T>C Copied from the Exome Variant Server GAD2_000096 2/13006 0/8600 2/4406
?/? c.1237-25C>T r.(=) p.(=) g.26575249C>T Copied from the Exome Variant Server GAD2_000097 1/13006 1/8600 0/4406
?/? c.1237-4G>A r.spl? p.? g.26575270G>A Copied from the Exome Variant Server GAD2_000098 1/13006 0/8600 1/4406
?/? c.1237G>A r.(?) p.(Gly413Arg) g.26575274G>A Copied from the Exome Variant Server GAD2_000099 2/13006 0/8600 2/4406
?/? c.1239A>C r.(=) p.(=) g.26575276A>C Copied from the Exome Variant Server GAD2_000100 2/13006 0/8600 2/4406
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