Full data view for gene EZH2

Information The variants shown are described using the NM_001203247.1 transcript reference sequence.

125 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.118-39A>G r.(=) p.(=) g.148543729T>C Copied from the Exome Variant Server EZH2_000125 1/13004 1/8598 0/4406 - - - - - - -
?/? c.165C>G r.(?) p.(Ile55Met) g.148543643G>C Copied from the Exome Variant Server EZH2_000124 4/13006 4/8600 0/4406 - - - - - - -
?/? c.229T>C r.(=) p.(=) g.148543579A>G Copied from the Exome Variant Server EZH2_000123 1/13006 0/8600 1/4406 - - - - - - -
?/? c.232C>T r.(?) p.(Arg78Cys) g.148543576G>A Copied from the Exome Variant Server EZH2_000122 2/13006 0/8600 2/4406 - - - - - - -
?/? c.246+37T>C r.(=) p.(=) g.148543525A>G Copied from the Exome Variant Server EZH2_000121 10031/13006 5936/8600 4095/4406 - - - - - - -
?/? c.247-29A>G r.(=) p.(=) g.148529871T>C Copied from the Exome Variant Server EZH2_000120 1/13006 0/8600 1/4406 - - - - - - -
?/? c.247-22A>C r.(=) p.(=) g.148529864T>G Copied from the Exome Variant Server EZH2_000119 1/13006 0/8600 1/4406 - - - - - - -
?/? c.247-10_247-9insT r.(=) p.(=) g.148529851_148529852insA Copied from the Exome Variant Server EZH2_000117 44/12518 38/8254 6/4264 - - - - - - -
?/? c.363+17T>C r.(=) p.(=) g.148529709A>G Copied from the Exome Variant Server EZH2_000115 1/13004 0/8598 1/4406 - - - - - - -
?/? c.363+43T>C r.(=) p.(=) g.148529683A>G Copied from the Exome Variant Server EZH2_000113 83/12970 2/8588 81/4382 - - - - - - -
?/? c.364-8_364-7insT r.(=) p.(=) g.148526947_148526948insA Copied from the Exome Variant Server EZH2_000118 6/12486 0/8234 6/4252 - - - - - - -
?/? c.396T>C r.(=) p.(=) g.148526908A>G Copied from the Exome Variant Server EZH2_000116 62/13004 60/8598 2/4406 - - - - - - -
?/? c.464G>A r.(?) p.(Gly155Glu) g.148526840C>T Copied from the Exome Variant Server EZH2_000114 1/13006 0/8600 1/4406 - - - - - - -
?/? c.474C>T r.(=) p.(=) g.148526830G>A Copied from the Exome Variant Server EZH2_000112 3/13004 1/8598 2/4406 - - - - - - -
?/? c.484+8A>G r.(=) p.(=) g.148526812T>C Copied from the Exome Variant Server EZH2_000111 1/13006 1/8600 0/4406 - - - - - - -
?/? c.484+10A>G r.(=) p.(=) g.148526810T>C Copied from the Exome Variant Server EZH2_000110 1/13006 1/8600 0/4406 - - - - - - -
?/? c.484+13C>T r.(=) p.(=) g.148526807G>A Copied from the Exome Variant Server EZH2_000109 38/13006 36/8600 2/4406 - - - - - - -
?/? c.485-45C>A r.(=) p.(=) g.148526017G>T Copied from the Exome Variant Server EZH2_000108 1/12924 1/8546 0/4378 - - - - - - -
?/? c.485-14T>A r.(=) p.(=) g.148525986A>T Copied from the Exome Variant Server EZH2_000107 1/13006 1/8600 0/4406 - - - - - - -
?/? c.485-7G>A r.(=) p.(=) g.148525979C>T Copied from the Exome Variant Server EZH2_000106 156/13006 3/8600 153/4406 - - - - - - -
?/? c.553G>C r.(?) p.(Asp185His) g.148525904C>G Copied from the Exome Variant Server EZH2_000105 785/13006 719/8600 66/4406 - - - - - - -
?/? c.552_554del r.(?) p.(Asp189del) g.148525903_148525905del Copied from the Exome Variant Server EZH2_000104 1/12518 1/8254 0/4264 - - - - - - -
?/? c.573C>T r.(=) p.(=) g.148525884G>A Copied from the Exome Variant Server EZH2_000103 1/13006 1/8600 0/4406 - - - - - - -
?/? c.623A>G r.(?) p.(Asp208Gly) g.148525834T>C Copied from the Exome Variant Server EZH2_000102 2/13006 2/8600 0/4406 - - - - - - -
?/? c.625+5G>A r.spl? p.? g.148525827C>T Copied from the Exome Variant Server EZH2_000101 13/13006 0/8600 13/4406 - - - - - - -
?/? c.625+12T>G r.(=) p.(=) g.148525820A>C Copied from the Exome Variant Server EZH2_000100 1/13006 1/8600 0/4406 - - - - - - -
?/? c.626-39A>G r.(=) p.(=) g.148524397T>C Copied from the Exome Variant Server EZH2_000099 4/12994 0/8594 4/4400 - - - - - - -
?/? c.626-15T>C r.(=) p.(=) g.148524373A>G Copied from the Exome Variant Server EZH2_000098 3/13002 3/8598 0/4404 - - - - - - -
?/? c.626-11C>G r.(=) p.(=) g.148524369G>C Copied from the Exome Variant Server EZH2_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.637C>T r.(?) p.(Arg213Cys) g.148524347G>A Copied from the Exome Variant Server EZH2_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.638G>A r.(?) p.(Arg213His) g.148524346C>T Copied from the Exome Variant Server EZH2_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.657T>C r.(=) p.(=) g.148524327A>G Copied from the Exome Variant Server EZH2_000094 3/13006 3/8600 0/4406 - - - - - - -
?/? c.661G>C r.(?) p.(Asp221His) g.148524323C>G Copied from the Exome Variant Server EZH2_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.720A>T r.(=) p.(=) g.148524264T>A Copied from the Exome Variant Server EZH2_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.728+19G>C r.(=) p.(=) g.148524237C>G Copied from the Exome Variant Server EZH2_000091 87/13006 2/8600 85/4406 - - - - - - -
?/? c.728+25A>G r.(=) p.(=) g.148524231T>C Copied from the Exome Variant Server EZH2_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.728+40G>A r.(=) p.(=) g.148524216C>T Copied from the Exome Variant Server EZH2_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.728+41_728+42insT r.(=) p.(=) g.148524214_148524215insA Copied from the Exome Variant Server EZH2_000088 1/12518 0/8254 1/4264 - - - - - - -
?/? c.729-42T>C r.(=) p.(=) g.148523766A>G Copied from the Exome Variant Server EZH2_000087 2/13006 2/8600 0/4406 - - - - - - -
?/? c.729-15C>T r.(=) p.(=) g.148523739G>A Copied from the Exome Variant Server EZH2_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.764C>T r.(?) p.(Ala255Val) g.148523689G>A Copied from the Exome Variant Server EZH2_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.892+20G>A r.(=) p.(=) g.148523541C>T Copied from the Exome Variant Server EZH2_000084 3/13006 3/8600 0/4406 - - - - - - -
?/? c.893-50_893-49del r.(=) p.(=) g.148516828_148516829del Copied from the Exome Variant Server EZH2_000083 1/12514 1/8254 0/4260 - - - - - - -
?/? c.918T>C r.(=) p.(=) g.148516754A>G Copied from the Exome Variant Server EZH2_000082 3/13006 0/8600 3/4406 - - - - - - -
?/? c.950A>G r.(?) p.(Asn317Ser) g.148516722T>C Copied from the Exome Variant Server EZH2_000081 4/13006 4/8600 0/4406 - - - - - - -
?/? c.984+47T>C r.(=) p.(=) g.148516641A>G Copied from the Exome Variant Server EZH2_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.984+50A>G r.(=) p.(=) g.148516638T>C Copied from the Exome Variant Server EZH2_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.985-47A>G r.(=) p.(=) g.148515256T>C Copied from the Exome Variant Server EZH2_000078 19/13004 4/8600 15/4404 - - - - - - -
?/? c.985-40T>C r.(=) p.(=) g.148515249A>G Copied from the Exome Variant Server EZH2_000077 2/13004 2/8600 0/4404 - - - - - - -
?/? c.985-20T>A r.(=) p.(=) g.148515229A>T Copied from the Exome Variant Server EZH2_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1002T>C r.(=) p.(=) g.148515192A>G Copied from the Exome Variant Server EZH2_000075 177/13006 3/8600 174/4406 - - - - - - -
?/? c.1017C>T r.(=) p.(=) g.148515177G>A Copied from the Exome Variant Server EZH2_000074 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1065A>G r.(=) p.(=) g.148515129T>C Copied from the Exome Variant Server EZH2_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1095C>T r.(=) p.(=) g.148515099G>A Copied from the Exome Variant Server EZH2_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1120G>C r.(?) p.(Glu374Gln) g.148515074C>G Copied from the Exome Variant Server EZH2_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1225+9C>A r.(=) p.(=) g.148514960G>T Copied from the Exome Variant Server EZH2_000069 16/13006 0/8600 16/4406 - - - - - - -
?/? c.1225+10G>A r.(=) p.(=) g.148514959C>T Copied from the Exome Variant Server EZH2_000067 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1225+35T>C r.(=) p.(=) g.148514934A>G Copied from the Exome Variant Server EZH2_000065 191/13006 3/8600 188/4406 - - - - - - -
?/? c.1225+48G>A r.(=) p.(=) g.148514921C>T Copied from the Exome Variant Server EZH2_000063 167/13006 3/8600 164/4406 - - - - - - -
?/? c.1226-14A>G r.(=) p.(=) g.148514497T>C Copied from the Exome Variant Server EZH2_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1316T>C r.(?) p.(Met439Thr) g.148514393A>G Copied from the Exome Variant Server EZH2_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1395+25_1395+33del r.(=) p.(=) g.148514281_148514289del Copied from the Exome Variant Server EZH2_000068 3/12518 2/8254 1/4264 - - - - - - -
?/? c.1396-51T>C r.(=) p.(=) g.148513921A>G Copied from the Exome Variant Server EZH2_000066 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1396-24C>T r.(=) p.(=) g.148513894G>A Copied from the Exome Variant Server EZH2_000064 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1401T>C r.(=) p.(=) g.148513865A>G Copied from the Exome Variant Server EZH2_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1437A>G r.(=) p.(=) g.148513829T>C Copied from the Exome Variant Server EZH2_000060 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1443C>T r.(=) p.(=) g.148513823G>A Copied from the Exome Variant Server EZH2_000059 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1444G>A r.(?) p.(Ala482Thr) g.148513822C>T Copied from the Exome Variant Server EZH2_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1490+12A>G r.(=) p.(=) g.148513764T>C Copied from the Exome Variant Server EZH2_000057 17/13006 0/8600 17/4406 - - - - - - -
?/? c.1490+19T>A r.(=) p.(=) g.148513757A>T Copied from the Exome Variant Server EZH2_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1490+20C>G r.(=) p.(=) g.148513756G>C Copied from the Exome Variant Server EZH2_000055 190/13006 3/8600 187/4406 - - - - - - -
?/? c.1491-38C>T r.(=) p.(=) g.148512676G>A Copied from the Exome Variant Server EZH2_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1491-37G>A r.(=) p.(=) g.148512675C>T Copied from the Exome Variant Server EZH2_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1491-29T>G r.(=) p.(=) g.148512667A>C Copied from the Exome Variant Server EZH2_000052 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1491-19T>G r.(=) p.(=) g.148512657A>C Copied from the Exome Variant Server EZH2_000051 9/13006 9/8600 0/4406 - - - - - - -
?/? c.1491-17del r.(=) p.(=) g.148512655del Copied from the Exome Variant Server EZH2_000050 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1531+26T>C r.(=) p.(=) g.148512572A>G Copied from the Exome Variant Server EZH2_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1531+43C>A r.(=) p.(=) g.148512555G>T Copied from the Exome Variant Server EZH2_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1532-50G>A r.(=) p.(=) g.148512181C>T Copied from the Exome Variant Server EZH2_000047 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1532-10C>T r.(=) p.(=) g.148512141G>A Copied from the Exome Variant Server EZH2_000046 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1575T>C r.(=) p.(=) g.148512088A>G Copied from the Exome Variant Server EZH2_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1657+23C>G r.(=) p.(=) g.148511983G>C Copied from the Exome Variant Server EZH2_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1657+25A>G r.(=) p.(=) g.148511981T>C Copied from the Exome Variant Server EZH2_000043 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1658-45_1658-44del r.(=) p.(=) g.148511273_148511274del Copied from the Exome Variant Server EZH2_000042 1/12514 1/8250 0/4264 - - - - - - -
?/? c.1658-39A>G r.(=) p.(=) g.148511268T>C Copied from the Exome Variant Server EZH2_000041 11/13006 11/8600 0/4406 - - - - - - -
?/? c.1658-38C>T r.(=) p.(=) g.148511267G>A Copied from the Exome Variant Server EZH2_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1658-37G>A r.(=) p.(=) g.148511266C>T Copied from the Exome Variant Server EZH2_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1674G>C r.(=) p.(=) g.148511213C>G Copied from the Exome Variant Server EZH2_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1716G>A r.(=) p.(=) g.148511171C>T Copied from the Exome Variant Server EZH2_000037 171/13006 156/8600 15/4406 - - - - - - -
?/? c.1770C>T r.(=) p.(=) g.148511117G>A Copied from the Exome Variant Server EZH2_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1771G>A r.(?) p.(Ala591Thr) g.148511116C>T Copied from the Exome Variant Server EZH2_000035 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1788T>G r.(?) p.(Ser596Arg) g.148511099A>C Copied from the Exome Variant Server EZH2_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1836+48G>C r.(=) p.(=) g.148511003C>G Copied from the Exome Variant Server EZH2_000033 9/13006 9/8600 0/4406 - - - - - - -
?/? c.1837-21T>C r.(=) p.(=) g.148508833A>G Copied from the Exome Variant Server EZH2_000032 8874/13006 5760/8600 3114/4406 - - - - - - -
?/? c.1837-9A>G r.(=) p.(=) g.148508821T>C Copied from the Exome Variant Server EZH2_000031 24/13006 20/8600 4/4406 - - - - - - -
?/? c.1837-6C>T r.(=) p.(=) g.148508818G>A Copied from the Exome Variant Server EZH2_000030 30/13006 29/8600 1/4406 - - - - - - -
?/? c.1869C>G r.(=) p.(=) g.148508780G>C Copied from the Exome Variant Server EZH2_000029 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1875G>A r.(=) p.(=) g.148508774C>T Copied from the Exome Variant Server EZH2_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1890T>C r.(=) p.(=) g.148508759A>G Copied from the Exome Variant Server EZH2_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1893T>C r.(=) p.(=) g.148508756A>G Copied from the Exome Variant Server EZH2_000026 2/13006 2/8600 0/4406 - - - - - - -
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