All transcript variants in gene GYS2

Information The variants shown are described using the NM_021957.3 transcript reference sequence.

150 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.-17G>A r.(=) p.(=) g.21757543C>T Copied from the Exome Variant Server GYS2_000150 1/13004 0/8598 1/4406
?/? c.17C>G r.(?) p.(Ser6Cys) g.21757510G>C Copied from the Exome Variant Server GYS2_000149 1/13004 1/8598 0/4406
?/? c.34C>T r.(=) p.(=) g.21757493G>A Copied from the Exome Variant Server GYS2_000148 1/13004 0/8598 1/4406
?/? c.50A>G r.(?) p.(Gln17Arg) g.21757477T>C Copied from the Exome Variant Server GYS2_000147 1/13004 1/8598 0/4406
?/? c.122-33G>A r.(=) p.(=) g.21733490C>T Copied from the Exome Variant Server GYS2_000146 1/13006 0/8600 1/4406
?/? c.122-28A>T r.(=) p.(=) g.21733485T>A Copied from the Exome Variant Server GYS2_000145 42/13006 0/8600 42/4406
?/? c.122-13_122-12del r.(=) p.(=) g.21733469_21733470del Copied from the Exome Variant Server GYS2_000144 1/12518 0/8254 1/4264
?/? c.150A>G r.(=) p.(=) g.21733429T>C Copied from the Exome Variant Server GYS2_000143 1/13006 1/8600 0/4406
?/? c.249T>C r.(=) p.(=) g.21733330A>G Copied from the Exome Variant Server GYS2_000142 2/13006 0/8600 2/4406
?/? c.280G>A r.(?) p.(Ala94Thr) g.21733299C>T Copied from the Exome Variant Server GYS2_000141 123/13006 1/8600 122/4406
?/? c.294T>C r.(=) p.(=) g.21733285A>G Copied from the Exome Variant Server GYS2_000140 1/13006 1/8600 0/4406
?/? c.299G>T r.(?) p.(Cys100Phe) g.21733280C>A Copied from the Exome Variant Server GYS2_000139 5/13006 0/8600 5/4406
?/? c.303+21C>T r.(=) p.(=) g.21733255G>A Copied from the Exome Variant Server GYS2_000138 2/13006 2/8600 0/4406
?/? c.303+44T>C r.(=) p.(=) g.21733232A>G Copied from the Exome Variant Server GYS2_000137 2/13006 1/8600 1/4406
?/? c.308A>G r.(?) p.(His103Arg) g.21728987T>C Copied from the Exome Variant Server GYS2_000136 1/13004 1/8598 0/4406
?/? c.360A>T r.(=) p.(=) g.21728935T>A Copied from the Exome Variant Server GYS2_000135 1/13006 1/8600 0/4406
?/? c.393G>T r.(?) p.(Lys131Asn) g.21728902C>A Copied from the Exome Variant Server GYS2_000134 1/13006 1/8600 0/4406
?/? c.396T>C r.(=) p.(=) g.21728899A>G Copied from the Exome Variant Server GYS2_000133 1/13006 0/8600 1/4406
?/? c.421G>A r.(?) p.(Gly141Ser) g.21728874C>T Copied from the Exome Variant Server GYS2_000132 11/13006 11/8600 0/4406
?/? c.427C>T r.(?) p.(Pro143Ser) g.21728868G>A Copied from the Exome Variant Server GYS2_000131 1/13006 1/8600 0/4406
?/? c.495+1G>T r.spl? p.? g.21728799C>A Copied from the Exome Variant Server GYS2_000130 1/13006 1/8600 0/4406
?/? c.495+3A>G r.spl? p.? g.21728797T>C Copied from the Exome Variant Server GYS2_000129 1/13004 0/8598 1/4406
?/? c.495+23A>T r.(=) p.(=) g.21728777T>A Copied from the Exome Variant Server GYS2_000128 31/13004 31/8598 0/4406
?/? c.495+27C>T r.(=) p.(=) g.21728773G>A Copied from the Exome Variant Server GYS2_000127 1/13004 1/8598 0/4406
?/? c.525C>T r.(=) p.(=) g.21727231G>A Copied from the Exome Variant Server GYS2_000126 1/13006 1/8600 0/4406
?/? c.539A>G r.(?) p.(His180Arg) g.21727217T>C Copied from the Exome Variant Server GYS2_000125 1/13006 1/8600 0/4406
?/? c.543A>G r.(=) p.(=) g.21727213T>C Copied from the Exome Variant Server GYS2_000124 1/13006 1/8600 0/4406
?/? c.547C>T r.(?) p.(Gln183*) g.21727209G>A Copied from the Exome Variant Server GYS2_000123 2/13006 2/8600 0/4406
?/? c.556A>T r.(?) p.(Ile186Phe) g.21727200T>A Copied from the Exome Variant Server GYS2_000122 1/13006 1/8600 0/4406
?/? c.574C>T r.(?) p.(Arg192*) g.21727182G>A Copied from the Exome Variant Server GYS2_000121 2/13006 2/8600 0/4406
?/? c.577G>A r.(?) p.(Ala193Thr) g.21727179C>T Copied from the Exome Variant Server GYS2_000120 60/13006 1/8600 59/4406
?/? c.611C>T r.(?) p.(Thr204Ile) g.21727145G>A Copied from the Exome Variant Server GYS2_000119 1/13006 1/8600 0/4406
?/? c.630G>A r.(=) p.(=) g.21727126C>T Copied from the Exome Variant Server GYS2_000118 3/13006 3/8600 0/4406
?/? c.635A>G r.(?) p.(Tyr212Cys) g.21727121T>C Copied from the Exome Variant Server GYS2_000117 1/13006 1/8600 0/4406
?/? c.678+3_678+5del r.spl? p.? g.21727073_21727075del Copied from the Exome Variant Server GYS2_000116 1/12518 0/8254 1/4264
?/? c.678+16T>G r.(=) p.(=) g.21727062A>C Copied from the Exome Variant Server GYS2_000115 2/13006 0/8600 2/4406
?/? c.679-24G>A r.(=) p.(=) g.21721967C>T Copied from the Exome Variant Server GYS2_000114 4/13006 4/8600 0/4406
?/? c.679-21T>C r.(=) p.(=) g.21721964A>G Copied from the Exome Variant Server GYS2_000113 1/13006 0/8600 1/4406
?/? c.694G>C r.(?) p.(Glu232Gln) g.21721928C>G Copied from the Exome Variant Server GYS2_000112 1/13006 1/8600 0/4406
?/? c.698C>T r.(?) p.(Ala233Val) g.21721924G>A Copied from the Exome Variant Server GYS2_000111 1/13006 1/8600 0/4406
?/? c.722G>A r.(?) p.(Arg241Gln) g.21721900C>T Copied from the Exome Variant Server GYS2_000110 1/13006 1/8600 0/4406
?/? c.727T>C r.(?) p.(Cys243Arg) g.21721895A>G Copied from the Exome Variant Server GYS2_000109 1/13006 0/8600 1/4406
?/? c.809T>C r.(?) p.(Leu270Pro) g.21721813A>G Copied from the Exome Variant Server GYS2_000108 1/13006 0/8600 1/4406
?/? c.823+48A>G r.(=) p.(=) g.21721751T>C Copied from the Exome Variant Server GYS2_000107 2/13006 0/8600 2/4406
?/? c.840C>T r.(=) p.(=) g.21716263G>A Copied from the Exome Variant Server GYS2_000106 1/13006 0/8600 1/4406
?/? c.884A>G r.(?) p.(Asn295Ser) g.21716219T>C Copied from the Exome Variant Server GYS2_000105 1/13006 0/8600 1/4406
?/? c.907A>G r.(?) p.(Arg303Gly) g.21716196T>C Copied from the Exome Variant Server GYS2_000104 1/13006 1/8600 0/4406
?/? c.941+45G>A r.(=) p.(=) g.21716117C>T Copied from the Exome Variant Server GYS2_000103 1/12990 1/8594 0/4396
?/? c.942-41C>G r.(=) p.(=) g.21716013G>C Copied from the Exome Variant Server GYS2_000102 1/13004 1/8600 0/4404
?/? c.942-19T>C r.(=) p.(=) g.21715991A>G Copied from the Exome Variant Server GYS2_000101 1/13004 1/8600 0/4404
?/? c.942-17G>A r.(=) p.(=) g.21715989C>T Copied from the Exome Variant Server GYS2_000100 2372/13006 1990/8600 382/4406
?/? c.942-12G>A r.(=) p.(=) g.21715984C>T Copied from the Exome Variant Server GYS2_000099 1/13006 1/8600 0/4406
?/? c.948C>T r.(=) p.(=) g.21715966G>A Copied from the Exome Variant Server GYS2_000098 1/13006 1/8600 0/4406
?/? c.1012G>A r.(?) p.(Gly338Arg) g.21715902C>T Copied from the Exome Variant Server GYS2_000097 1/13006 1/8600 0/4406
?/? c.1062+13T>C r.(=) p.(=) g.21715839A>G Copied from the Exome Variant Server GYS2_000095 1/13006 0/8600 1/4406
?/? c.1062+51T>C r.(=) p.(=) g.21715801A>G Copied from the Exome Variant Server GYS2_000092 9336/13006 6462/8600 2874/4406
?/? c.1087A>G r.(?) p.(Met363Val) g.21713402T>C Copied from the Exome Variant Server GYS2_000096 9660/13006 6680/8600 2980/4406
?/? c.1128C>T r.(=) p.(=) g.21713361G>A Copied from the Exome Variant Server GYS2_000094 5/13006 4/8600 1/4406
?/? c.1130T>C r.(?) p.(Val377Ala) g.21713359A>G Copied from the Exome Variant Server GYS2_000093 1/13006 0/8600 1/4406
?/? c.1169+12A>T r.(=) p.(=) g.21713308T>A Copied from the Exome Variant Server GYS2_000091 9952/13006 6942/8600 3010/4406
?/? c.1169+40T>C r.(=) p.(=) g.21713280A>G Copied from the Exome Variant Server GYS2_000090 1/13006 1/8600 0/4406
?/? c.1170-51G>C r.(=) p.(=) g.21712695C>G Copied from the Exome Variant Server GYS2_000089 1/12984 0/8582 1/4402
?/? c.1170-25T>C r.(=) p.(=) g.21712669A>G Copied from the Exome Variant Server GYS2_000088 1/12992 1/8588 0/4404
?/? c.1170-15T>C r.(=) p.(=) g.21712659A>G Copied from the Exome Variant Server GYS2_000087 1/12994 1/8590 0/4404
?/? c.1186G>A r.(?) p.(Val396Met) g.21712628C>T Copied from the Exome Variant Server GYS2_000086 1/12994 0/8590 1/4404
?/? c.1191G>A r.(=) p.(=) g.21712623C>T Copied from the Exome Variant Server GYS2_000085 1/12992 1/8588 0/4404
?/? c.1202G>T r.(?) p.(Gly401Val) g.21712612C>A Copied from the Exome Variant Server GYS2_000084 1/12992 0/8588 1/4404
?/? c.1229+11G>A r.(=) p.(=) g.21712574C>T Copied from the Exome Variant Server GYS2_000083 9652/12996 6674/8592 2978/4404
?/? c.1229+40T>C r.(=) p.(=) g.21712545A>G Copied from the Exome Variant Server GYS2_000082 9624/12988 6654/8586 2970/4402
?/? c.1229+45C>G r.(=) p.(=) g.21712540G>C Copied from the Exome Variant Server GYS2_000081 1/12984 1/8584 0/4400
?/? c.1230-47T>A r.(=) p.(=) g.21712150A>T Copied from the Exome Variant Server GYS2_000080 1/12964 0/8578 1/4386
?/? c.1230-9_1230-8insT r.(=) p.(=) g.21712111_21712112insA Copied from the Exome Variant Server GYS2_000079 5/12510 2/8248 3/4262
?/? c.1245C>G r.(?) p.(Asp415Glu) g.21712088G>C Copied from the Exome Variant Server GYS2_000078 301/12998 3/8594 298/4404
?/? c.1251C>T r.(=) p.(=) g.21712082G>A Copied from the Exome Variant Server GYS2_000077 2/12998 2/8594 0/4404
?/? c.1252G>A r.(?) p.(Asp418Asn) g.21712081C>T Copied from the Exome Variant Server GYS2_000076 1/12998 1/8594 0/4404
?/? c.1277C>T r.(?) p.(Thr426Ile) g.21712056G>A Copied from the Exome Variant Server GYS2_000075 1/12998 1/8594 0/4404
?/? c.1296C>A r.(=) p.(=) g.21712037G>T Copied from the Exome Variant Server GYS2_000074 2/13002 0/8596 2/4406
?/? c.1308+28T>C r.(=) p.(=) g.21711997A>G Copied from the Exome Variant Server GYS2_000073 1/13000 0/8594 1/4406
?/? c.1309-11T>C r.(=) p.(=) g.21711258A>G Copied from the Exome Variant Server GYS2_000072 1/13006 0/8600 1/4406
?/? c.1318T>C r.(=) p.(=) g.21711238A>G Copied from the Exome Variant Server GYS2_000071 1/13006 1/8600 0/4406
?/? c.1345A>G r.(?) p.(Ile449Val) g.21711211T>C Copied from the Exome Variant Server GYS2_000070 1/13006 0/8600 1/4406
?/? c.1362C>T r.(=) p.(=) g.21711194G>A Copied from the Exome Variant Server GYS2_000069 3/13006 2/8600 1/4406
?/? c.1388T>C r.(?) p.(Ile463Thr) g.21711168A>G Copied from the Exome Variant Server GYS2_000068 1/13006 0/8600 1/4406
?/? c.1389T>C r.(=) p.(=) g.21711167A>G Copied from the Exome Variant Server GYS2_000067 7/13006 0/8600 7/4406
?/? c.1396T>C r.(?) p.(Phe466Leu) g.21711160A>G Copied from the Exome Variant Server GYS2_000066 1/13006 1/8600 0/4406
?/? c.1401C>A r.(?) p.(Asn467Lys) g.21711155G>T Copied from the Exome Variant Server GYS2_000065 1/13006 1/8600 0/4406
?/? c.1404C>T r.(=) p.(=) g.21711152G>A Copied from the Exome Variant Server GYS2_000064 1/13006 1/8600 0/4406
?/? c.1406G>A r.(?) p.(Arg469His) g.21711150C>T Copied from the Exome Variant Server GYS2_000063 3/13006 2/8600 1/4406
?/? c.1422+10A>C r.(=) p.(=) g.21711124T>G Copied from the Exome Variant Server GYS2_000062 1/13006 1/8600 0/4406
?/? c.1422+23C>G r.(=) p.(=) g.21711111G>C Copied from the Exome Variant Server GYS2_000061 9332/13006 6665/8600 2667/4406
?/? c.1422+36T>C r.(=) p.(=) g.21711098A>G Copied from the Exome Variant Server GYS2_000060 1/13006 1/8600 0/4406
?/? c.1423-24_1423-23insT r.(=) p.(=) g.21699427_21699428insA Copied from the Exome Variant Server GYS2_000059 94/12456 54/8216 40/4240
?/? c.1423-21A>G r.(=) p.(=) g.21699425T>C Copied from the Exome Variant Server GYS2_000058 162/12988 17/8588 145/4400
?/? c.1436C>A r.(?) p.(Pro479Gln) g.21699391G>T Copied from the Exome Variant Server GYS2_000057 2/13006 2/8600 0/4406
?/? c.1452C>T r.(=) p.(=) g.21699375G>A Copied from the Exome Variant Server GYS2_000056 1/13004 1/8600 0/4404
?/? c.1464A>G r.(=) p.(=) g.21699363T>C Copied from the Exome Variant Server GYS2_000055 378/13006 10/8600 368/4406
?/? c.1470C>T r.(=) p.(=) g.21699357G>A Copied from the Exome Variant Server GYS2_000054 1/13006 1/8600 0/4406
?/? c.1483G>C r.(?) p.(Glu495Gln) g.21699344C>G Copied from the Exome Variant Server GYS2_000053 1/13006 1/8600 0/4406
?/? c.1549+13T>C r.(=) p.(=) g.21699265A>G Copied from the Exome Variant Server GYS2_000052 1/13006 1/8600 0/4406
?/? c.1549+19G>A r.(=) p.(=) g.21699259C>T Copied from the Exome Variant Server GYS2_000051 3/13006 2/8600 1/4406
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