Full data view for gene ATP1B4

Information The variants shown are described using the NM_001142447.2 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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.-67C>A r.(=) p.(=) g.119495957C>A Copied from the Exome Variant Server ATP1B4_000001 3/3600 0/2391 3/1209 - - - - - - -
?/? c.-21G>A r.(=) p.(=) g.119496003G>A Copied from the Exome Variant Server ATP1B4_000002 8/10563 1/6728 7/3835 - - - - - - -
?/? c.-1_1insA r.(=) p.(=) g.119496023_119496024insA Copied from the Exome Variant Server ATP1B4_000003 2/10205 2/6484 0/3721 - - - - - - -
?/? c.53G>A r.(?) p.(Arg18His) g.119496076G>A Copied from the Exome Variant Server ATP1B4_000004 2/10563 0/6728 2/3835 - - - - - - -
?/? c.63C>G r.(=) p.(=) g.119496086C>G Copied from the Exome Variant Server ATP1B4_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.64-42_64-41insT r.(=) p.(=) g.119500338_119500339insT Copied from the Exome Variant Server ATP1B4_000006 8/10205 2/6484 6/3721 - - - - - - -
?/? c.64-26G>A r.(=) p.(=) g.119500354G>A Copied from the Exome Variant Server ATP1B4_000007 3/10563 0/6728 3/3835 - - - - - - -
?/? c.64-17T>C r.(=) p.(=) g.119500363T>C Copied from the Exome Variant Server ATP1B4_000008 35/10563 31/6728 4/3835 - - - - - - -
?/? c.72G>A r.(=) p.(=) g.119500388G>A Copied from the Exome Variant Server ATP1B4_000009 2/10563 0/6728 2/3835 - - - - - - -
?/? c.87G>T r.(?) p.(Gln29His) g.119500403G>T Copied from the Exome Variant Server ATP1B4_000010 2/10563 0/6728 2/3835 - - - - - - -
?/? c.130C>T r.(?) p.(Arg44Trp) g.119500446C>T Copied from the Exome Variant Server ATP1B4_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.137C>T r.(?) p.(Thr46Met) g.119500453C>T Copied from the Exome Variant Server ATP1B4_000012 17/10563 14/6728 3/3835 - - - - - - -
?/? c.143T>C r.(?) p.(Val48Ala) g.119500459T>C Copied from the Exome Variant Server ATP1B4_000013 4/10563 2/6728 2/3835 - - - - - - -
?/? c.153G>A r.(=) p.(=) g.119500469G>A Copied from the Exome Variant Server ATP1B4_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.237C>A r.(=) p.(=) g.119500553C>A Copied from the Exome Variant Server ATP1B4_000015 2/10563 1/6728 1/3835 - - - - - - -
?/? c.256T>C r.(=) p.(=) g.119500572T>C Copied from the Exome Variant Server ATP1B4_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.263T>A r.(?) p.(Ile88Asn) g.119500579T>A Copied from the Exome Variant Server ATP1B4_000017 1/10563 0/6728 1/3835 - - - - - - -
?/? c.323G>A r.(?) p.(Ser108Asn) g.119500639G>A Copied from the Exome Variant Server ATP1B4_000018 7/10563 0/6728 7/3835 - - - - - - -
?/? c.328+12T>C r.(=) p.(=) g.119500656T>C Copied from the Exome Variant Server ATP1B4_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.343A>G r.(?) p.(Ile115Val) g.119504584A>G Copied from the Exome Variant Server ATP1B4_000020 11/10563 0/6728 11/3835 - - - - - - -
?/? c.365C>T r.(?) p.(Ser122Phe) g.119504606C>T Copied from the Exome Variant Server ATP1B4_000021 1/10563 0/6728 1/3835 - - - - - - -
?/? c.366C>T r.(=) p.(=) g.119504607C>T Copied from the Exome Variant Server ATP1B4_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.452C>T r.(?) p.(Pro151Leu) g.119504693C>T Copied from the Exome Variant Server ATP1B4_000023 1/10563 1/6728 0/3835 - - - - - - -
?/? c.457+17G>A r.(=) p.(=) g.119504715G>A Copied from the Exome Variant Server ATP1B4_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.477C>T r.(=) p.(=) g.119504980C>T Copied from the Exome Variant Server ATP1B4_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.516C>T r.(=) p.(=) g.119505019C>T Copied from the Exome Variant Server ATP1B4_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.544C>T r.(=) p.(=) g.119505047C>T Copied from the Exome Variant Server ATP1B4_000027 3/10563 0/6728 3/3835 - - - - - - -
?/? c.563-42C>T r.(=) p.(=) g.119509185C>T Copied from the Exome Variant Server ATP1B4_000028 1/10563 1/6728 0/3835 - - - - - - -
?/? c.563-29T>G r.(=) p.(=) g.119509198T>G Copied from the Exome Variant Server ATP1B4_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.584A>G r.(?) p.(Glu195Gly) g.119509248A>G Copied from the Exome Variant Server ATP1B4_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.608C>T r.(?) p.(Pro203Leu) g.119509272C>T Copied from the Exome Variant Server ATP1B4_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.624C>A r.(=) p.(=) g.119509288C>A Copied from the Exome Variant Server ATP1B4_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.635A>C r.(?) p.(Asn212Thr) g.119509299A>C Copied from the Exome Variant Server ATP1B4_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.650A>G r.(?) p.(Lys217Arg) g.119509314A>G Copied from the Exome Variant Server ATP1B4_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.671G>A r.(?) p.(Arg224His) g.119509335G>A Copied from the Exome Variant Server ATP1B4_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.679C>T r.(=) p.(=) g.119509343C>T Copied from the Exome Variant Server ATP1B4_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.707C>A r.(?) p.(Pro236Gln) g.119509371C>A Copied from the Exome Variant Server ATP1B4_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.757C>T r.(?) p.(Arg253Trp) g.119509421C>T Copied from the Exome Variant Server ATP1B4_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.759+18A>C r.(=) p.(=) g.119509441A>C Copied from the Exome Variant Server ATP1B4_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.759+26G>T r.(=) p.(=) g.119509449G>T Copied from the Exome Variant Server ATP1B4_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.759+31A>G r.(=) p.(=) g.119509454A>G Copied from the Exome Variant Server ATP1B4_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.759+35G>A r.(=) p.(=) g.119509458G>A Copied from the Exome Variant Server ATP1B4_000042 10/10563 0/6728 10/3835 - - - - - - -
?/? c.759+48_759+49insG r.(=) p.(=) g.119509471_119509472insG Copied from the Exome Variant Server ATP1B4_000043 1/10205 1/6484 0/3721 - - - - - - -
?/? c.759+52G>A r.(=) p.(=) g.119509475G>A Copied from the Exome Variant Server ATP1B4_000044 12/6038 6/3621 6/2417 - - - - - - -
?/? c.760-43T>C r.(=) p.(=) g.119510192T>C Copied from the Exome Variant Server ATP1B4_000045 13/10563 4/6728 9/3835 - - - - - - -
?/? c.760-34_760-33del r.(=) p.(=) g.119510201_119510202del Copied from the Exome Variant Server ATP1B4_000047 19/10205 13/6484 6/3721 - - - - - - -
?/? c.760-34_760-33dup r.(=) p.(=) g.119510201_119510202dup Copied from the Exome Variant Server ATP1B4_000046 1/10205 0/6484 1/3721 - - - - - - -
?/? c.760-33del r.(=) p.(=) g.119510202del Copied from the Exome Variant Server ATP1B4_000049 14/10205 7/6484 7/3721 - - - - - - -
?/? c.760-33dup r.(=) p.(=) g.119510202dup Copied from the Exome Variant Server ATP1B4_000048 846/10205 101/6484 745/3721 - - - - - - -
?/? c.772C>T r.(?) p.(Arg258Cys) g.119510247C>T Copied from the Exome Variant Server ATP1B4_000050 2/10563 0/6728 2/3835 - - - - - - -
?/? c.773G>A r.(?) p.(Arg258His) g.119510248G>A Copied from the Exome Variant Server ATP1B4_000051 1/10563 1/6728 0/3835 - - - - - - -
?/? c.816+26T>C r.(=) p.(=) g.119510317T>C Copied from the Exome Variant Server ATP1B4_000052 5/10563 0/6728 5/3835 - - - - - - -
?/? c.816+57G>C r.(=) p.(=) g.119510348G>C Copied from the Exome Variant Server ATP1B4_000053 2/3600 1/2391 1/1209 - - - - - - -
?/? c.817-16C>T r.(=) p.(=) g.119512517C>T Copied from the Exome Variant Server ATP1B4_000054 79/10563 2/6728 77/3835 - - - - - - -
?/? c.859G>C r.(?) p.(Glu287Gln) g.119512575G>C Copied from the Exome Variant Server ATP1B4_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.897C>T r.(=) p.(=) g.119512613C>T Copied from the Exome Variant Server ATP1B4_000056 1/10563 0/6728 1/3835 - - - - - - -
?/? c.912+23A>G r.(=) p.(=) g.119512651A>G Copied from the Exome Variant Server ATP1B4_000057 1/10563 1/6728 0/3835 - - - - - - -
?/? c.913-40A>G r.(=) p.(=) g.119513288A>G Copied from the Exome Variant Server ATP1B4_000058 2/10563 2/6728 0/3835 - - - - - - -
?/? c.913-27T>C r.(=) p.(=) g.119513301T>C Copied from the Exome Variant Server ATP1B4_000059 2/10563 2/6728 0/3835 - - - - - - -
?/? c.913-25del r.(=) p.(=) g.119513303del Copied from the Exome Variant Server ATP1B4_000060 8/10205 0/6484 8/3721 - - - - - - -
?/? c.922A>T r.(?) p.(Thr308Ser) g.119513337A>T Copied from the Exome Variant Server ATP1B4_000061 15/10563 13/6728 2/3835 - - - - - - -
?/? c.1031G>A r.(?) p.(Arg344His) g.119513446G>A Copied from the Exome Variant Server ATP1B4_000062 1/10563 0/6728 1/3835 - - - - - - -
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