Full data view for gene GYS1

Information The variants shown are described using the NM_001161587.1 transcript reference sequence.

151 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.-42C>T r.(=) p.(=) g.49496411G>A Copied from the Exome Variant Server GYS1_000151 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-28C>A r.(=) p.(=) g.49496397G>T Copied from the Exome Variant Server GYS1_000150 1/13006 1/8600 0/4406 - - - - - - -
?/? c.73G>A r.(?) p.(Glu25Lys) g.49496297C>T Copied from the Exome Variant Server GYS1_000149 1/13006 0/8600 1/4406 - - - - - - -
?/? c.118+34_118+36del r.(=) p.(=) g.49496216_49496218del Copied from the Exome Variant Server GYS1_000148 16/12518 10/8254 6/4264 - - - - - - -
?/? c.119-31G>A r.(=) p.(=) g.49494771C>T Copied from the Exome Variant Server GYS1_000147 55/12980 2/8580 53/4400 - - - - - - -
?/? c.200C>T r.(?) p.(Pro67Leu) g.49494659G>A Copied from the Exome Variant Server GYS1_000146 1/13006 0/8600 1/4406 - - - - - - -
?/? c.201G>A r.(=) p.(=) g.49494658C>T Copied from the Exome Variant Server GYS1_000145 3/13006 0/8600 3/4406 - - - - - - -
?/? c.213G>C r.(?) p.(Gln71His) g.49494646C>G Copied from the Exome Variant Server GYS1_000144 2/13006 2/8600 0/4406 - - - - - - -
?/? c.217G>A r.(?) p.(Val73Met) g.49494642C>T Copied from the Exome Variant Server GYS1_000143 1/13006 1/8600 0/4406 - - - - - - -
?/? c.234A>G r.(=) p.(=) g.49494625T>C Copied from the Exome Variant Server GYS1_000142 11/13006 0/8600 11/4406 - - - - - - -
?/? c.251C>T r.(?) p.(Thr84Ile) g.49494608G>A Copied from the Exome Variant Server GYS1_000141 2/13006 2/8600 0/4406 - - - - - - -
?/? c.254C>T r.(?) p.(Pro85Leu) g.49494605G>A Copied from the Exome Variant Server GYS1_000140 2/13006 1/8600 1/4406 - - - - - - -
?/? c.255G>A r.(=) p.(=) g.49494604C>T Copied from the Exome Variant Server GYS1_000139 3/13006 1/8600 2/4406 - - - - - - -
?/? c.300+8G>A r.(=) p.(=) g.49494551C>T Copied from the Exome Variant Server GYS1_000138 31/13006 26/8600 5/4406 - - - - - - -
?/? c.300+11G>T r.(=) p.(=) g.49494548C>A Copied from the Exome Variant Server GYS1_000137 3/13006 2/8600 1/4406 - - - - - - -
?/? c.300+41C>T r.(=) p.(=) g.49494518G>A Copied from the Exome Variant Server GYS1_000136 39/13006 5/8600 34/4406 - - - - - - -
?/? c.301-1401T>G r.(=) p.(=) g.49490693A>C Copied from the Exome Variant Server GYS1_000135 1/12908 0/8538 1/4370 - - - - - - -
?/? c.301-1350G>T r.(=) p.(=) g.49490642C>A Copied from the Exome Variant Server GYS1_000134 1/12988 1/8588 0/4400 - - - - - - -
?/? c.301-1297C>T r.(=) p.(=) g.49490589G>A Copied from the Exome Variant Server GYS1_000133 1/13002 0/8598 1/4404 - - - - - - -
?/? c.301-1231A>G r.(=) p.(=) g.49490523T>C Copied from the Exome Variant Server GYS1_000132 207/13006 21/8600 186/4406 - - - - - - -
?/? c.301-1210G>A r.(=) p.(=) g.49490502C>T Copied from the Exome Variant Server GYS1_000131 3/13006 0/8600 3/4406 - - - - - - -
?/? c.301-1174C>G r.(=) p.(=) g.49490466G>C Copied from the Exome Variant Server GYS1_000130 1/13006 1/8600 0/4406 - - - - - - -
?/? c.301-1150C>T r.(=) p.(=) g.49490442G>A Copied from the Exome Variant Server GYS1_000129 3/13006 0/8600 3/4406 - - - - - - -
?/? c.301-49C>A r.(=) p.(=) g.49489341G>T Copied from the Exome Variant Server GYS1_000128 4/13006 0/8600 4/4406 - - - - - - -
?/? c.301-38A>G r.(=) p.(=) g.49489330T>C Copied from the Exome Variant Server GYS1_000127 11/13006 0/8600 11/4406 - - - - - - -
?/? c.301-35C>T r.(=) p.(=) g.49489327G>A Copied from the Exome Variant Server GYS1_000126 2/13006 2/8600 0/4406 - - - - - - -
?/? c.301-22G>T r.(=) p.(=) g.49489314C>A Copied from the Exome Variant Server GYS1_000125 496/13006 3/8600 493/4406 - - - - - - -
?/? c.342C>T r.(=) p.(=) g.49489251G>A Copied from the Exome Variant Server GYS1_000124 2/13006 0/8600 2/4406 - - - - - - -
?/? c.355T>C r.(=) p.(=) g.49489238A>G Copied from the Exome Variant Server GYS1_000123 1/13006 1/8600 0/4406 - - - - - - -
?/? c.363C>T r.(=) p.(=) g.49489230G>A Copied from the Exome Variant Server GYS1_000122 49/13006 21/8600 28/4406 - - - - - - -
?/? c.373T>C r.(?) p.(Cys125Arg) g.49489220A>G Copied from the Exome Variant Server GYS1_000121 1/13006 0/8600 1/4406 - - - - - - -
?/? c.412_413insCT r.(?) p.(Phe138Serfs*77) g.49489180_49489181insAG Copied from the Exome Variant Server GYS1_000120 2/12518 0/8254 2/4264 - - - - - - -
?/? c.439C>T r.(?) p.(Arg147Cys) g.49489154G>A Copied from the Exome Variant Server GYS1_000119 1/13006 1/8600 0/4406 - - - - - - -
?/? c.453C>T r.(=) p.(=) g.49489140G>A Copied from the Exome Variant Server GYS1_000118 1/13006 1/8600 0/4406 - - - - - - -
?/? c.454G>A r.(?) p.(Gly152Ser) g.49489139C>T Copied from the Exome Variant Server GYS1_000117 1/13006 0/8600 1/4406 - - - - - - -
?/? c.458C>T r.(?) p.(Ala153Val) g.49489135G>A Copied from the Exome Variant Server GYS1_000116 1/13006 1/8600 0/4406 - - - - - - -
?/? c.469T>G r.(?) p.(Tyr157Asp) g.49489124A>C Copied from the Exome Variant Server GYS1_000115 1/13006 1/8600 0/4406 - - - - - - -
?/? c.470A>G r.(?) p.(Tyr157Cys) g.49489123T>C Copied from the Exome Variant Server GYS1_000114 1/13006 0/8600 1/4406 - - - - - - -
?/? c.474C>G r.(?) p.(Asn158Lys) g.49489119G>C Copied from the Exome Variant Server GYS1_000113 4/13006 4/8600 0/4406 - - - - - - -
?/? c.486+30T>G r.(=) p.(=) g.49489077A>C Copied from the Exome Variant Server GYS1_000112 1/13006 1/8600 0/4406 - - - - - - -
?/? c.486+32C>T r.(=) p.(=) g.49489075G>A Copied from the Exome Variant Server GYS1_000111 2/13006 0/8600 2/4406 - - - - - - -
?/? c.486+33G>A r.(=) p.(=) g.49489074C>T Copied from the Exome Variant Server GYS1_000110 3/13006 3/8600 0/4406 - - - - - - -
?/? c.487-45T>C r.(=) p.(=) g.49488907A>G Copied from the Exome Variant Server GYS1_000109 1/13006 1/8600 0/4406 - - - - - - -
?/? c.492C>T r.(=) p.(=) g.49488857G>A Copied from the Exome Variant Server GYS1_000108 1/13006 0/8600 1/4406 - - - - - - -
?/? c.501G>A r.(=) p.(=) g.49488848C>T Copied from the Exome Variant Server GYS1_000107 232/13006 0/8600 232/4406 - - - - - - -
?/? c.567C>T r.(=) p.(=) g.49488782G>A Copied from the Exome Variant Server GYS1_000106 1/13006 0/8600 1/4406 - - - - - - -
?/? c.595G>A r.(?) p.(Ala199Thr) g.49488754C>T Copied from the Exome Variant Server GYS1_000105 1/13006 0/8600 1/4406 - - - - - - -
?/? c.601G>A r.(?) p.(Glu201Lys) g.49488748C>T Copied from the Exome Variant Server GYS1_000104 1/13006 1/8600 0/4406 - - - - - - -
?/? c.631+27C>T r.(=) p.(=) g.49488691G>A Copied from the Exome Variant Server GYS1_000103 2/13006 2/8600 0/4406 - - - - - - -
?/? c.631+30G>C r.(=) p.(=) g.49488688C>G Copied from the Exome Variant Server GYS1_000102 1/13006 1/8600 0/4406 - - - - - - -
?/? c.632-25A>G r.(=) p.(=) g.49486119T>C Copied from the Exome Variant Server GYS1_000101 1/13006 1/8600 0/4406 - - - - - - -
?/? c.632-14_632-13insA r.(=) p.(=) g.49486107_49486108insT Copied from the Exome Variant Server GYS1_000100 2/12516 1/8252 1/4264 - - - - - - -
?/? c.749+4C>T r.spl? p.? g.49485973G>A Copied from the Exome Variant Server GYS1_000099 2/13006 2/8600 0/4406 - - - - - - -
?/? c.749+26T>A r.(=) p.(=) g.49485951A>T Copied from the Exome Variant Server GYS1_000098 1/13006 0/8600 1/4406 - - - - - - -
?/? c.749+28_749+32del r.(=) p.(=) g.49485945_49485949del Copied from the Exome Variant Server GYS1_000097 2/12518 0/8254 2/4264 - - - - - - -
?/? c.749+39C>T r.(=) p.(=) g.49485938G>A Copied from the Exome Variant Server GYS1_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.749+51A>G r.(=) p.(=) g.49485926T>C Copied from the Exome Variant Server GYS1_000095 2/13006 0/8600 2/4406 - - - - - - -
?/? c.750-20G>T r.(=) p.(=) g.49485652C>A Copied from the Exome Variant Server GYS1_000094 2/13006 0/8600 2/4406 - - - - - - -
?/? c.750G>A r.(=) p.(=) g.49485632C>T Copied from the Exome Variant Server GYS1_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.795C>T r.(=) p.(=) g.49485587G>A Copied from the Exome Variant Server GYS1_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.828C>T r.(=) p.(=) g.49485554G>A Copied from the Exome Variant Server GYS1_000091 2/13006 1/8600 1/4406 - - - - - - -
?/? c.834C>T r.(=) p.(=) g.49485548G>A Copied from the Exome Variant Server GYS1_000090 3778/13006 2535/8600 1243/4406 - - - - - - -
?/? c.870+11G>A r.(=) p.(=) g.49485501C>T Copied from the Exome Variant Server GYS1_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.870+16T>C r.(=) p.(=) g.49485496A>G Copied from the Exome Variant Server GYS1_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.871-39C>A r.(=) p.(=) g.49484932G>T Copied from the Exome Variant Server GYS1_000087 3/13006 0/8600 3/4406 - - - - - - -
?/? c.877G>A r.(?) p.(Gly293Ser) g.49484887C>T Copied from the Exome Variant Server GYS1_000086 2/13006 0/8600 2/4406 - - - - - - -
?/? c.891A>G r.(=) p.(=) g.49484873T>C Copied from the Exome Variant Server GYS1_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.904T>C r.(?) p.(Phe302Leu) g.49484860A>G Copied from the Exome Variant Server GYS1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.920G>A r.(?) p.(Arg307Gln) g.49484844C>T Copied from the Exome Variant Server GYS1_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.977+19G>A r.(=) p.(=) g.49484768C>T Copied from the Exome Variant Server GYS1_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.977+24C>G r.(=) p.(=) g.49484763G>C Copied from the Exome Variant Server GYS1_000081 3/13006 3/8600 0/4406 - - - - - - -
?/? c.977+28C>T r.(=) p.(=) g.49484759G>A Copied from the Exome Variant Server GYS1_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.977+29G>A r.(=) p.(=) g.49484758C>T Copied from the Exome Variant Server GYS1_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.978-72_978-69del r.(=) p.(=) g.49481483_49481486del Copied from the Exome Variant Server GYS1_000078 6/12518 2/8254 4/4264 - - - - - - -
?/? c.978-68T>A r.(=) p.(=) g.49481482A>T Copied from the Exome Variant Server GYS1_000077 137/4566 5/3182 132/1384 - - - - - - -
?/? c.978-68_978-67insT r.(=) p.(=) g.49481481_49481482insA Copied from the Exome Variant Server GYS1_000076 1/12518 0/8254 1/4264 - - - - - - -
?/? c.984G>A r.(=) p.(=) g.49481408C>T Copied from the Exome Variant Server GYS1_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1002A>G r.(=) p.(=) g.49481390T>C Copied from the Exome Variant Server GYS1_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1037+15C>G r.(=) p.(=) g.49481340G>C Copied from the Exome Variant Server GYS1_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1037+29_1037+30insCC r.(=) p.(=) g.49481325_49481326insGG Copied from the Exome Variant Server GYS1_000072 10/12518 0/8254 10/4264 - - - - - - -
?/? c.1037+32C>T r.(=) p.(=) g.49481323G>A Copied from the Exome Variant Server GYS1_000071 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1037+38C>T r.(=) p.(=) g.49481317G>A Copied from the Exome Variant Server GYS1_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1038-34C>T r.(=) p.(=) g.49481293G>A Copied from the Exome Variant Server GYS1_000069 123/13006 0/8600 123/4406 - - - - - - -
?/? c.1054A>G r.(?) p.(Met352Val) g.49481243T>C Copied from the Exome Variant Server GYS1_000068 95/13006 31/8600 64/4406 - - - - - - -
?/? c.1095G>A r.(=) p.(=) g.49481202C>T Copied from the Exome Variant Server GYS1_000067 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1113G>A r.(=) p.(=) g.49481184C>T Copied from the Exome Variant Server GYS1_000066 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1116+8T>C r.(=) p.(=) g.49481173A>G Copied from the Exome Variant Server GYS1_000065 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1116+22A>G r.(=) p.(=) g.49481159T>C Copied from the Exome Variant Server GYS1_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1117-33C>T r.(=) p.(=) g.49478023G>A Copied from the Exome Variant Server GYS1_000063 4/13006 1/8600 3/4406 - - - - - - -
?/? c.1117-9C>T r.(=) p.(=) g.49477999G>A Copied from the Exome Variant Server GYS1_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1117-4G>A r.spl? p.? g.49477994C>T Copied from the Exome Variant Server GYS1_000061 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1117C>A r.(=) p.(=) g.49477990G>T Copied from the Exome Variant Server GYS1_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1132C>G r.(?) p.(Pro378Ala) g.49477975G>C Copied from the Exome Variant Server GYS1_000059 9/13006 1/8600 8/4406 - - - - - - -
?/? c.1140C>T r.(=) p.(=) g.49477967G>A Copied from the Exome Variant Server GYS1_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1146C>T r.(=) p.(=) g.49477961G>A Copied from the Exome Variant Server GYS1_000057 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1230+34G>C r.(=) p.(=) g.49477843C>G Copied from the Exome Variant Server GYS1_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1230+46G>A r.(=) p.(=) g.49477831C>T Copied from the Exome Variant Server GYS1_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1230+50T>C r.(=) p.(=) g.49477827A>G Copied from the Exome Variant Server GYS1_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1231-37A>G r.(=) p.(=) g.49477633T>C Copied from the Exome Variant Server GYS1_000053 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1244C>T r.(?) p.(Pro415Leu) g.49477583G>A Copied from the Exome Variant Server GYS1_000052 3/13006 3/8600 0/4406 - - - - - - -
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