Unique variants in gene STAT2

Information The variants shown are described using the NM_005419.3 transcript reference sequence.

152 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.-7-28A>G r.(=) p.(=) g.56750390T>C Copied from the Exome Variant Server STAT2_000152 1/13006 0/8600 1/4406
1 c.-7-27T>C r.(=) p.(=) g.56750389A>G Copied from the Exome Variant Server STAT2_000151 1/13006 1/8600 0/4406
1 c.26del r.(?) p.(Asn9Ilefs*59) g.56750330del Copied from the Exome Variant Server STAT2_000150 1/12518 1/8254 0/4264
1 c.56A>G r.(?) p.(His19Arg) g.56750300T>C Copied from the Exome Variant Server STAT2_000149 1/13006 1/8600 0/4406
1 c.72C>T r.(=) p.(=) g.56750284G>A Copied from the Exome Variant Server STAT2_000148 1/13006 0/8600 1/4406
1 c.109G>T r.(?) p.(Val37Phe) g.56750247C>A Copied from the Exome Variant Server STAT2_000147 1/13006 1/8600 0/4406
1 c.131+12A>G r.(=) p.(=) g.56750213T>C Copied from the Exome Variant Server STAT2_000146 6/13006 5/8600 1/4406
1 c.131+18T>C r.(=) p.(=) g.56750207A>G Copied from the Exome Variant Server STAT2_000145 1/13006 0/8600 1/4406
1 c.131+21G>A r.(=) p.(=) g.56750204C>T Copied from the Exome Variant Server STAT2_000144 578/13006 533/8600 45/4406
1 c.131+37G>T r.(=) p.(=) g.56750188C>A Copied from the Exome Variant Server STAT2_000143 1/13006 1/8600 0/4406
1 c.132-46C>T r.(=) p.(=) g.56750115G>A Copied from the Exome Variant Server STAT2_000142 1/13006 1/8600 0/4406
1 c.132-24A>C r.(=) p.(=) g.56750093T>G Copied from the Exome Variant Server STAT2_000141 5/13006 0/8600 5/4406
1 c.218G>A r.(?) p.(Arg73His) g.56749983C>T Copied from the Exome Variant Server STAT2_000140 1/13006 1/8600 0/4406
1 c.250C>A r.(?) p.(Gln84Lys) g.56749951G>T Copied from the Exome Variant Server STAT2_000139 3/13006 3/8600 0/4406
1 c.263G>A r.(?) p.(Arg88Gln) g.56749938C>T Copied from the Exome Variant Server STAT2_000138 2/13006 0/8600 2/4406
1 c.275G>A r.(?) p.(Arg92Gln) g.56749926C>T Copied from the Exome Variant Server STAT2_000137 2/13006 2/8600 0/4406
1 c.285+5T>C r.spl? p.? g.56749911A>G Copied from the Exome Variant Server STAT2_000136 21/13006 0/8600 21/4406
1 c.285+11C>A r.(=) p.(=) g.56749905G>T Copied from the Exome Variant Server STAT2_000135 2/13006 2/8600 0/4406
1 c.285+13G>A r.(=) p.(=) g.56749903C>T Copied from the Exome Variant Server STAT2_000134 1/13006 1/8600 0/4406
1 c.286-5T>C r.spl? p.? g.56749592A>G Copied from the Exome Variant Server STAT2_000133 8/13004 0/8598 8/4406
1 c.290T>C r.(?) p.(Phe97Ser) g.56749583A>G Copied from the Exome Variant Server STAT2_000132 1/13006 1/8600 0/4406
1 c.297G>C r.(?) p.(Gln99His) g.56749576C>G Copied from the Exome Variant Server STAT2_000131 1/13006 0/8600 1/4406
1 c.331C>T r.(?) p.(Leu111Phe) g.56749542G>A Copied from the Exome Variant Server STAT2_000130 2/13006 1/8600 1/4406
1 c.349A>C r.(=) p.(=) g.56749524T>G Copied from the Exome Variant Server STAT2_000129 1/13006 1/8600 0/4406
1 c.378A>G r.(=) p.(=) g.56749495T>C Copied from the Exome Variant Server STAT2_000128 9/13006 1/8600 8/4406
1 c.379T>C r.(=) p.(=) g.56749494A>G Copied from the Exome Variant Server STAT2_000126 211/13006 1/8600 210/4406
1 c.382-21G>A r.(=) p.(=) g.56749337C>T Copied from the Exome Variant Server STAT2_000124 1/13006 1/8600 0/4406
1 c.402C>T r.(=) p.(=) g.56749296G>A Copied from the Exome Variant Server STAT2_000122 4/13006 3/8600 1/4406
1 c.429T>A r.(?) p.(His143Gln) g.56749269A>T Copied from the Exome Variant Server STAT2_000120 1/13006 0/8600 1/4406
1 c.472-44C>T r.(=) p.(=) g.56749179G>A Copied from the Exome Variant Server STAT2_000118 1/13006 0/8600 1/4406
1 c.472-37G>A r.(=) p.(=) g.56749172C>T Copied from the Exome Variant Server STAT2_000116 1/13006 1/8600 0/4406
1 c.472-28C>T r.(=) p.(=) g.56749163G>A Copied from the Exome Variant Server STAT2_000114 2/13006 2/8600 0/4406
1 c.472-22C>T r.(=) p.(=) g.56749157G>A Copied from the Exome Variant Server STAT2_000112 1/13006 0/8600 1/4406
1 c.547+32T>C r.(=) p.(=) g.56749028A>G Copied from the Exome Variant Server STAT2_000110 1/13006 1/8600 0/4406
1 c.547+35G>A r.(=) p.(=) g.56749025C>T Copied from the Exome Variant Server STAT2_000108 17/13006 0/8600 17/4406
1 c.547+51C>T r.(=) p.(=) g.56749009G>A Copied from the Exome Variant Server STAT2_000106 1/13006 0/8600 1/4406
1 c.548-15G>A r.(=) p.(=) g.56748662C>T Copied from the Exome Variant Server STAT2_000104 4/13006 0/8600 4/4406
1 c.633+38C>A r.(=) p.(=) g.56748524G>T Copied from the Exome Variant Server STAT2_000102 2/13006 2/8600 0/4406
1 c.633+46_633+47del r.(=) p.(=) g.56748515_56748516del Copied from the Exome Variant Server STAT2_000101 29/12518 22/8254 7/4264
1 c.634-41A>G r.(=) p.(=) g.56748439T>C Copied from the Exome Variant Server STAT2_000098 3/13006 3/8600 0/4406
1 c.642G>A r.(=) p.(=) g.56748390C>T Copied from the Exome Variant Server STAT2_000127 1/13006 1/8600 0/4406
1 c.685G>A r.(?) p.(Glu229Lys) g.56748347C>T Copied from the Exome Variant Server STAT2_000125 1/13006 1/8600 0/4406
1 c.694C>A r.(?) p.(Leu232Met) g.56748338G>T Copied from the Exome Variant Server STAT2_000123 1/13006 1/8600 0/4406
1 c.725A>G r.(?) p.(Gln242Arg) g.56748307T>C Copied from the Exome Variant Server STAT2_000121 1/13006 1/8600 0/4406
1 c.733G>A r.(?) p.(Ala245Thr) g.56748299C>T Copied from the Exome Variant Server STAT2_000119 1/13006 1/8600 0/4406
1 c.737G>C r.(?) p.(Cys246Ser) g.56748295C>G Copied from the Exome Variant Server STAT2_000117 5/13006 0/8600 5/4406
1 c.750C>G r.(=) p.(=) g.56748282G>C Copied from the Exome Variant Server STAT2_000115 1/13006 1/8600 0/4406
1 c.759C>T r.(=) p.(=) g.56748273G>A Copied from the Exome Variant Server STAT2_000113 15/13006 13/8600 2/4406
1 c.782+37C>T r.(=) p.(=) g.56748213G>A Copied from the Exome Variant Server STAT2_000111 3/13006 1/8600 2/4406
1 c.782+38G>A r.(=) p.(=) g.56748212C>T Copied from the Exome Variant Server STAT2_000109 1/13006 0/8600 1/4406
1 c.847A>C r.(?) p.(Ser283Arg) g.56745170T>G Copied from the Exome Variant Server STAT2_000107 1/13006 0/8600 1/4406
1 c.903C>T r.(=) p.(=) g.56745114G>A Copied from the Exome Variant Server STAT2_000105 2/13006 1/8600 1/4406
1 c.904G>A r.(?) p.(Ala302Thr) g.56745113C>T Copied from the Exome Variant Server STAT2_000103 1/13006 0/8600 1/4406
1 c.929G>A r.(?) p.(Arg310His) g.56745088C>T Copied from the Exome Variant Server STAT2_000100 1/13006 1/8600 0/4406
1 c.941+8G>A r.(=) p.(=) g.56745068C>T Copied from the Exome Variant Server STAT2_000099 1/13006 0/8600 1/4406
1 c.941+14G>A r.(=) p.(=) g.56745062C>T Copied from the Exome Variant Server STAT2_000097 1/13006 1/8600 0/4406
1 c.941+25G>A r.(=) p.(=) g.56745051C>T Copied from the Exome Variant Server STAT2_000096 4/13006 4/8600 0/4406
1 c.942-15C>T r.(=) p.(=) g.56744989G>A Copied from the Exome Variant Server STAT2_000095 1/13006 0/8600 1/4406
1 c.967T>C r.(?) p.(Cys323Arg) g.56744949A>G Copied from the Exome Variant Server STAT2_000094 2/13006 2/8600 0/4406
1 c.985C>T r.(?) p.(His329Tyr) g.56744931G>A Copied from the Exome Variant Server STAT2_000093 1/13006 1/8600 0/4406
1 c.989G>A r.(?) p.(Arg330Gln) g.56744927C>T Copied from the Exome Variant Server STAT2_000092 1/13006 0/8600 1/4406
1 c.1033A>C r.(=) p.(=) g.56744883T>G Copied from the Exome Variant Server STAT2_000090 1/13006 1/8600 0/4406
1 c.1034+19A>T r.(=) p.(=) g.56744863T>A Copied from the Exome Variant Server STAT2_000088 1/13006 0/8600 1/4406
1 c.1035-60T>C r.(=) p.(=) g.56744732A>G Copied from the Exome Variant Server STAT2_000086 28/4566 28/3182 0/1384
1 c.1035-18C>T r.(=) p.(=) g.56744690G>A Copied from the Exome Variant Server STAT2_000084 1/13006 1/8600 0/4406
1 c.1062T>C r.(=) p.(=) g.56744645A>G Copied from the Exome Variant Server STAT2_000091 3/13006 3/8600 0/4406
1 c.1094+26C>T r.(=) p.(=) g.56744587G>A Copied from the Exome Variant Server STAT2_000089 2/13006 1/8600 1/4406
1 c.1094+62C>T r.(=) p.(=) g.56744551G>A Copied from the Exome Variant Server STAT2_000087 1/4566 1/3182 0/1384
1 c.1095-60G>C r.(=) p.(=) g.56744276C>G Copied from the Exome Variant Server STAT2_000085 956/4566 208/3182 748/1384
1 c.1095-36_1095-35del r.(=) p.(=) g.56744251_56744252del Copied from the Exome Variant Server STAT2_000083 1/12514 1/8252 0/4262
1 c.1095-29A>G r.(=) p.(=) g.56744245T>C Copied from the Exome Variant Server STAT2_000082 9/13004 8/8598 1/4406
1 c.1111C>G r.(?) p.(Gln371Glu) g.56744200G>C Copied from the Exome Variant Server STAT2_000081 3/13006 3/8600 0/4406
1 c.1115+28del r.(=) p.(=) g.56744168del Copied from the Exome Variant Server STAT2_000080 1/12518 1/8254 0/4264
1 c.1115+36C>T r.(=) p.(=) g.56744160G>A Copied from the Exome Variant Server STAT2_000079 1/13006 1/8600 0/4406
1 c.1115+50C>A r.(=) p.(=) g.56744146G>T Copied from the Exome Variant Server STAT2_000078 1/13006 0/8600 1/4406
1 c.1115+51A>G r.(=) p.(=) g.56744145T>C Copied from the Exome Variant Server STAT2_000077 1/13006 1/8600 0/4406
1 c.1210-47C>G r.(=) p.(=) g.56743467G>C Copied from the Exome Variant Server STAT2_000076 1/13006 0/8600 1/4406
1 c.1210-15C>G r.(=) p.(=) g.56743435G>C Copied from the Exome Variant Server STAT2_000075 1/13006 0/8600 1/4406
1 c.1210-3C>T r.spl? p.? g.56743423G>A Copied from the Exome Variant Server STAT2_000074 1/13006 0/8600 1/4406
1 c.1224A>G r.(=) p.(=) g.56743406T>C Copied from the Exome Variant Server STAT2_000073 1/13006 0/8600 1/4406
1 c.1257+6A>G r.(=) p.(=) g.56743367T>C Copied from the Exome Variant Server STAT2_000072 2835/13006 570/8600 2265/4406
1 c.1258-19A>G r.(=) p.(=) g.56743312T>C Copied from the Exome Variant Server STAT2_000071 1/13006 0/8600 1/4406
1 c.1263A>C r.(=) p.(=) g.56743288T>G Copied from the Exome Variant Server STAT2_000070 2/13006 0/8600 2/4406
1 c.1301C>T r.(?) p.(Thr434Met) g.56743250G>A Copied from the Exome Variant Server STAT2_000069 2/13006 2/8600 0/4406
1 c.1311T>C r.(=) p.(=) g.56743240A>G Copied from the Exome Variant Server STAT2_000068 1/13006 1/8600 0/4406
1 c.1342-30C>T r.(=) p.(=) g.56743075G>A Copied from the Exome Variant Server STAT2_000067 1/13006 0/8600 1/4406
1 c.1343C>T r.(?) p.(Thr448Met) g.56743044G>A Copied from the Exome Variant Server STAT2_000066 9/13006 7/8600 2/4406
1 c.1389A>T r.(=) p.(=) g.56742998T>A Copied from the Exome Variant Server STAT2_000065 1/13006 0/8600 1/4406
1 c.1390A>G r.(?) p.(Ile464Val) g.56742997T>C Copied from the Exome Variant Server STAT2_000064 903/13006 18/8600 885/4406
1 c.1404A>G r.(=) p.(=) g.56742983T>C Copied from the Exome Variant Server STAT2_000063 1/13006 0/8600 1/4406
1 c.1424T>C r.(?) p.(Leu475Pro) g.56742963A>G Copied from the Exome Variant Server STAT2_000062 1/13006 0/8600 1/4406
1 c.1440+9G>A r.(=) p.(=) g.56742938C>T Copied from the Exome Variant Server STAT2_000061 1/13006 0/8600 1/4406
1 c.1440+16C>T r.(=) p.(=) g.56742931G>A Copied from the Exome Variant Server STAT2_000060 1/13006 0/8600 1/4406
1 c.1441-43T>C r.(=) p.(=) g.56742886A>G Copied from the Exome Variant Server STAT2_000059 1/13006 0/8600 1/4406
1 c.1441-24C>G r.(=) p.(=) g.56742867G>C Copied from the Exome Variant Server STAT2_000058 87/13006 2/8600 85/4406
1 c.1449G>A r.(=) p.(=) g.56742835C>T Copied from the Exome Variant Server STAT2_000056 1/13006 1/8600 0/4406
1 c.1465C>A r.(?) p.(Pro489Thr) g.56742819G>T Copied from the Exome Variant Server STAT2_000055 1/13006 1/8600 0/4406
1 c.1466C>A r.(?) p.(Pro489His) g.56742818G>T Copied from the Exome Variant Server STAT2_000053 2/13006 2/8600 0/4406
1 c.1576+18T>A r.(=) p.(=) g.56742690A>T Copied from the Exome Variant Server STAT2_000051 1/13006 0/8600 1/4406
1 c.1576+39A>G r.(=) p.(=) g.56742669T>C Copied from the Exome Variant Server STAT2_000049 1/13006 1/8600 0/4406
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