Full data view for gene HIRA

Information The variants shown are described using the NM_003325.3 transcript reference sequence.

181 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.-35G>A r.(=) p.(=) g.19419034C>T Copied from the Exome Variant Server HIRA_000181 5/10880 0/7320 5/3560 - - - - - - -
?/? c.-8G>A r.(=) p.(=) g.19419007C>T Copied from the Exome Variant Server HIRA_000180 3/11572 0/7760 3/3812 - - - - - - -
?/? c.-9_-7del r.(=) p.(=) g.19419006_19419008del Copied from the Exome Variant Server HIRA_000178 62/8954 37/6104 25/2850 - - - - - - -
?/? c.-9_-7dup r.(=) p.(=) g.19419006_19419008dup Copied from the Exome Variant Server HIRA_000179 401/8954 298/6104 103/2850 - - - - - - -
?/? c.9C>T r.(=) p.(=) g.19418991G>A Copied from the Exome Variant Server HIRA_000177 7/12368 0/8208 7/4160 - - - - - - -
?/? c.37+69C>T r.(=) p.(=) g.19418894G>A Copied from the Exome Variant Server HIRA_000176 37/4068 34/2918 3/1150 - - - - - - -
?/? c.100+18A>G r.(=) p.(=) g.19398221T>C Copied from the Exome Variant Server HIRA_000175 1/13006 0/8600 1/4406 - - - - - - -
?/? c.100+51C>T r.(=) p.(=) g.19398188G>A Copied from the Exome Variant Server HIRA_000174 1/13006 1/8600 0/4406 - - - - - - -
?/? c.101-39C>T r.(=) p.(=) g.19396155G>A Copied from the Exome Variant Server HIRA_000173 1/13006 1/8600 0/4406 - - - - - - -
?/? c.101-30C>T r.(=) p.(=) g.19396146G>A Copied from the Exome Variant Server HIRA_000172 1/13006 0/8600 1/4406 - - - - - - -
?/? c.101-17C>G r.(=) p.(=) g.19396133G>C Copied from the Exome Variant Server HIRA_000171 2/13006 0/8600 2/4406 - - - - - - -
?/? c.212-33G>C r.(=) p.(=) g.19394830C>G Copied from the Exome Variant Server HIRA_000170 19/13006 18/8600 1/4406 - - - - - - -
?/? c.212-32A>G r.(=) p.(=) g.19394829T>C Copied from the Exome Variant Server HIRA_000169 1/13006 1/8600 0/4406 - - - - - - -
?/? c.212-9_212-8insT r.(=) p.(=) g.19394805_19394806insA Copied from the Exome Variant Server HIRA_000168 7/12518 3/8254 4/4264 - - - - - - -
?/? c.302+18T>C r.(=) p.(=) g.19394689A>G Copied from the Exome Variant Server HIRA_000167 2/13006 2/8600 0/4406 - - - - - - -
?/? c.303-48G>A r.(=) p.(=) g.19393451C>T Copied from the Exome Variant Server HIRA_000166 3/13006 0/8600 3/4406 - - - - - - -
?/? c.322G>A r.(?) p.(Val108Met) g.19393384C>T Copied from the Exome Variant Server HIRA_000165 1/13006 0/8600 1/4406 - - - - - - -
?/? c.397+48C>G r.(=) p.(=) g.19393261G>C Copied from the Exome Variant Server HIRA_000164 1/13006 1/8600 0/4406 - - - - - - -
?/? c.398-376G>A r.(=) p.(=) g.19385986C>T Copied from the Exome Variant Server HIRA_000163 2/4566 2/3182 0/1384 - - - - - - -
?/? c.398-374_398-373del r.(=) p.(=) g.19385983_19385984del Copied from the Exome Variant Server HIRA_000162 1/7764 1/4986 0/2778 - - - - - - -
?/? c.398-206C>T r.(=) p.(=) g.19385816G>A Copied from the Exome Variant Server HIRA_000161 141/4566 136/3182 5/1384 - - - - - - -
?/? c.398-97del r.(=) p.(=) g.19385707del Copied from the Exome Variant Server HIRA_000160 121/12464 107/8232 14/4232 - - - - - - -
?/? c.398-50A>G r.(=) p.(=) g.19385660T>C Copied from the Exome Variant Server HIRA_000159 5/13006 3/8600 2/4406 - - - - - - -
?/? c.398-24C>T r.(=) p.(=) g.19385634G>A Copied from the Exome Variant Server HIRA_000158 17/13006 0/8600 17/4406 - - - - - - -
?/? c.438A>G r.(=) p.(=) g.19385570T>C Copied from the Exome Variant Server HIRA_000157 2/13006 2/8600 0/4406 - - - - - - -
?/? c.466G>A r.(?) p.(Val156Ile) g.19385542C>T Copied from the Exome Variant Server HIRA_000156 1/13006 1/8600 0/4406 - - - - - - -
?/? c.493+69G>A r.(=) p.(=) g.19385446C>T Copied from the Exome Variant Server HIRA_000155 15/4566 0/3182 15/1384 - - - - - - -
?/? c.525C>T r.(=) p.(=) g.19384439G>A Copied from the Exome Variant Server HIRA_000154 2/13006 0/8600 2/4406 - - - - - - -
?/? c.528G>A r.(=) p.(=) g.19384436C>T Copied from the Exome Variant Server HIRA_000153 1/13006 1/8600 0/4406 - - - - - - -
?/? c.531C>T r.(=) p.(=) g.19384433G>A Copied from the Exome Variant Server HIRA_000152 1/13006 0/8600 1/4406 - - - - - - -
?/? c.582T>A r.(?) p.(Asp194Glu) g.19384382A>T Copied from the Exome Variant Server HIRA_000151 1/13006 0/8600 1/4406 - - - - - - -
?/? c.587G>A r.(?) p.(Arg196His) g.19384377C>T Copied from the Exome Variant Server HIRA_000150 8/13006 0/8600 8/4406 - - - - - - -
?/? c.609G>A r.(=) p.(=) g.19384355C>T Copied from the Exome Variant Server HIRA_000149 49/13006 10/8600 39/4406 - - - - - - -
?/? c.654+33C>T r.(=) p.(=) g.19384277G>A Copied from the Exome Variant Server HIRA_000148 3/13004 1/8600 2/4404 - - - - - - -
?/? c.655-19G>C r.(=) p.(=) g.19382051C>G Copied from the Exome Variant Server HIRA_000147 18/13006 17/8600 1/4406 - - - - - - -
?/? c.699T>C r.(=) p.(=) g.19381988A>G Copied from the Exome Variant Server HIRA_000146 2/13006 2/8600 0/4406 - - - - - - -
?/? c.822+7G>A r.(=) p.(=) g.19381858C>T Copied from the Exome Variant Server HIRA_000145 1/13006 0/8600 1/4406 - - - - - - -
?/? c.885C>T r.(=) p.(=) g.19379675G>A Copied from the Exome Variant Server HIRA_000144 1/13006 1/8600 0/4406 - - - - - - -
?/? c.936+7C>G r.(=) p.(=) g.19379617G>C Copied from the Exome Variant Server HIRA_000143 68/13006 0/8600 68/4406 - - - - - - -
?/? c.936+46G>A r.(=) p.(=) g.19379578C>T Copied from the Exome Variant Server HIRA_000142 1/13006 1/8600 0/4406 - - - - - - -
?/? c.936+50G>A r.(=) p.(=) g.19379574C>T Copied from the Exome Variant Server HIRA_000141 15/13006 0/8600 15/4406 - - - - - - -
?/? c.937-63T>C r.(=) p.(=) g.19376140A>G Copied from the Exome Variant Server HIRA_000140 4/4566 0/3182 4/1384 - - - - - - -
?/? c.937-47G>A r.(=) p.(=) g.19376124C>T Copied from the Exome Variant Server HIRA_000139 405/13006 379/8600 26/4406 - - - - - - -
?/? c.937-46G>A r.(=) p.(=) g.19376123C>T Copied from the Exome Variant Server HIRA_000138 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1007+5G>T r.spl? p.? g.19376002C>A Copied from the Exome Variant Server HIRA_000137 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1007+8G>A r.(=) p.(=) g.19375999C>T Copied from the Exome Variant Server HIRA_000136 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1007+11T>G r.(=) p.(=) g.19375996A>C Copied from the Exome Variant Server HIRA_000135 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1007+29G>A r.(=) p.(=) g.19375978C>T Copied from the Exome Variant Server HIRA_000134 36/13006 1/8600 35/4406 - - - - - - -
?/? c.1007+30T>C r.(=) p.(=) g.19375977A>G Copied from the Exome Variant Server HIRA_000133 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1008-32G>C r.(=) p.(=) g.19375371C>G Copied from the Exome Variant Server HIRA_000132 7/13004 0/8598 7/4406 - - - - - - -
?/? c.1008-24G>A r.(=) p.(=) g.19375363C>T Copied from the Exome Variant Server HIRA_000131 17/13006 0/8600 17/4406 - - - - - - -
?/? c.1065C>G r.(=) p.(=) g.19375282G>C Copied from the Exome Variant Server HIRA_000130 54/13006 0/8600 54/4406 - - - - - - -
?/? c.1089C>T r.(=) p.(=) g.19375258G>A Copied from the Exome Variant Server HIRA_000129 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1093C>T r.(?) p.(Pro365Ser) g.19375254G>A Copied from the Exome Variant Server HIRA_000128 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1113+26G>A r.(=) p.(=) g.19375208C>T Copied from the Exome Variant Server HIRA_000127 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1113+33C>T r.(=) p.(=) g.19375201G>A Copied from the Exome Variant Server HIRA_000126 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1114-43T>C r.(=) p.(=) g.19373302A>G Copied from the Exome Variant Server HIRA_000125 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1114-37T>G r.(=) p.(=) g.19373296A>C Copied from the Exome Variant Server HIRA_000124 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1118G>A r.(?) p.(Arg373His) g.19373255C>T Copied from the Exome Variant Server HIRA_000123 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1131C>G r.(=) p.(=) g.19373242G>C Copied from the Exome Variant Server HIRA_000122 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1165G>A r.(?) p.(Ala389Thr) g.19373208C>T Copied from the Exome Variant Server HIRA_000121 18/13006 17/8600 1/4406 - - - - - - -
?/? c.1182C>T r.(=) p.(=) g.19373191G>A Copied from the Exome Variant Server HIRA_000120 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1224G>A r.(=) p.(=) g.19373149C>T Copied from the Exome Variant Server HIRA_000119 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1273T>A r.(?) p.(Ser425Thr) g.19373100A>T Copied from the Exome Variant Server HIRA_000118 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1281C>G r.(=) p.(=) g.19373092G>C Copied from the Exome Variant Server HIRA_000117 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1288G>A r.(?) p.(Ala430Thr) g.19373085C>T Copied from the Exome Variant Server HIRA_000116 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1329+21C>T r.(=) p.(=) g.19373023G>A Copied from the Exome Variant Server HIRA_000115 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1329+28G>A r.(=) p.(=) g.19373016C>T Copied from the Exome Variant Server HIRA_000114 41/13006 5/8600 36/4406 - - - - - - -
?/? c.1329+31A>G r.(=) p.(=) g.19373013T>C Copied from the Exome Variant Server HIRA_000113 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1330-33T>C r.(=) p.(=) g.19371261A>G Copied from the Exome Variant Server HIRA_000112 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1330-30G>A r.(=) p.(=) g.19371258C>T Copied from the Exome Variant Server HIRA_000111 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1392C>T r.(=) p.(=) g.19371166G>A Copied from the Exome Variant Server HIRA_000110 95/13006 0/8600 95/4406 - - - - - - -
?/? c.1415+36C>T r.(=) p.(=) g.19371107G>A Copied from the Exome Variant Server HIRA_000109 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1415+37G>A r.(=) p.(=) g.19371106C>T Copied from the Exome Variant Server HIRA_000108 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1415+57C>G r.(=) p.(=) g.19371086G>C Copied from the Exome Variant Server HIRA_000107 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1416-35T>A r.(=) p.(=) g.19365624A>T Copied from the Exome Variant Server HIRA_000106 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1416-6_1416-4del r.spl? p.? g.19365593_19365595del Copied from the Exome Variant Server HIRA_000105 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1428G>A r.(=) p.(=) g.19365577C>T Copied from the Exome Variant Server HIRA_000104 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1455G>A r.(=) p.(=) g.19365550C>T Copied from the Exome Variant Server HIRA_000103 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1467G>A r.(=) p.(=) g.19365538C>T Copied from the Exome Variant Server HIRA_000102 5/13006 1/8600 4/4406 - - - - - - -
?/? c.1468G>A r.(?) p.(Gly490Ser) g.19365537C>T Copied from the Exome Variant Server HIRA_000101 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1479C>G r.(=) p.(=) g.19365526G>C Copied from the Exome Variant Server HIRA_000100 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1540G>A r.(?) p.(Ala514Thr) g.19365465C>T Copied from the Exome Variant Server HIRA_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1613+15A>C r.(=) p.(=) g.19365377T>G Copied from the Exome Variant Server HIRA_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1613+17G>C r.(=) p.(=) g.19365375C>G Copied from the Exome Variant Server HIRA_000097 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1614-3C>T r.spl? p.? g.19363318G>A Copied from the Exome Variant Server HIRA_000096 22/13006 21/8600 1/4406 - - - - - - -
?/? c.1615A>G r.(?) p.(Met539Val) g.19363314T>C Copied from the Exome Variant Server HIRA_000095 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1653T>C r.(=) p.(=) g.19363276A>G Copied from the Exome Variant Server HIRA_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1668G>A r.(=) p.(=) g.19363261C>T Copied from the Exome Variant Server HIRA_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1692G>A r.(=) p.(=) g.19363237C>T Copied from the Exome Variant Server HIRA_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1702C>T r.(?) p.(Arg568Trp) g.19363227G>A Copied from the Exome Variant Server HIRA_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1744C>T r.(=) p.(=) g.19363185G>A Copied from the Exome Variant Server HIRA_000090 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1776-46C>T r.(=) p.(=) g.19349500G>A Copied from the Exome Variant Server HIRA_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1776-27G>T r.(=) p.(=) g.19349481C>A Copied from the Exome Variant Server HIRA_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1776-16T>C r.(=) p.(=) g.19349470A>G Copied from the Exome Variant Server HIRA_000087 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1794T>C r.(=) p.(=) g.19349436A>G Copied from the Exome Variant Server HIRA_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1812C>T r.(=) p.(=) g.19349418G>A Copied from the Exome Variant Server HIRA_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1822C>T r.(=) p.(=) g.19349408G>A Copied from the Exome Variant Server HIRA_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1851A>G r.(=) p.(=) g.19349379T>C Copied from the Exome Variant Server HIRA_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1862C>T r.(?) p.(Ala621Val) g.19349368G>A Copied from the Exome Variant Server HIRA_000082 1/13006 0/8600 1/4406 - - - - - - -
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