Unique variants in gene ATP2B3

Information The variants shown are described using the NM_021949.3 transcript reference sequence.

210 entries on 3 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-23T>C r.(=) p.(=) g.152801683T>C Copied from the Exome Variant Server ATP2B3_000195 1/10469 0/6678 1/3791
1 c.-3A>G r.(=) p.(=) g.152801703A>G Copied from the Exome Variant Server ATP2B3_000196 8/10513 0/6702 8/3811
1 c.6C>T r.(=) p.(=) g.152801711C>T Copied from the Exome Variant Server ATP2B3_000197 1/10514 1/6702 0/3812
1 c.56G>A r.(?) p.(Arg19Gln) g.152801761G>A Copied from the Exome Variant Server ATP2B3_000198 1/10528 0/6714 1/3814
1 c.135G>A r.(=) p.(=) g.152801840G>A Copied from the Exome Variant Server ATP2B3_000108 7/10539 0/6721 7/3818
1 c.208+2138C>A r.(=) p.(=) g.152804051C>A Copied from the Exome Variant Server ATP2B3_000109 3/3600 3/2391 0/1209
1 c.208+2149G>A r.(=) p.(=) g.152804062G>A Copied from the Exome Variant Server ATP2B3_000110 1/3600 0/2391 1/1209
1 c.209-2267G>A r.(=) p.(=) g.152804550G>A Copied from the Exome Variant Server ATP2B3_000111 1/3600 1/2391 0/1209
1 c.209-45G>A r.(=) p.(=) g.152806772G>A Copied from the Exome Variant Server ATP2B3_000112 1/10561 1/6728 0/3833
1 c.214G>A r.(?) p.(Ala72Thr) g.152806822G>A Copied from the Exome Variant Server ATP2B3_000113 5/10563 5/6728 0/3835
1 c.215C>A r.(?) p.(Ala72Glu) g.152806823C>A Copied from the Exome Variant Server ATP2B3_000026 1/10563 0/6728 1/3835
1 c.216G>A r.(=) p.(=) g.152806824G>A Copied from the Exome Variant Server ATP2B3_000027 12/10563 11/6728 1/3835
1 c.235G>C r.(?) p.(Glu79Gln) g.152806843G>C Copied from the Exome Variant Server ATP2B3_000028 1/10563 1/6728 0/3835
1 c.325G>A r.(?) p.(Val109Met) g.152806933G>A Copied from the Exome Variant Server ATP2B3_000029 1/10563 1/6728 0/3835
1 c.330C>A r.(=) p.(=) g.152806938C>A Copied from the Exome Variant Server ATP2B3_000030 46/10563 0/6728 46/3835
1 c.357C>T r.(=) p.(=) g.152806965C>T Copied from the Exome Variant Server ATP2B3_000031 3/10563 3/6728 0/3835
1 c.372C>T r.(=) p.(=) g.152806980C>T Copied from the Exome Variant Server ATP2B3_000032 1/10563 1/6728 0/3835
1 c.387G>A r.(=) p.(=) g.152806995G>A Copied from the Exome Variant Server ATP2B3_000033 8/10563 1/6728 7/3835
1 c.406+5G>A r.spl? p.? g.152807019G>A Copied from the Exome Variant Server ATP2B3_000034 1/10562 0/6727 1/3835
1 c.406+6G>C r.(=) p.(=) g.152807020G>C Copied from the Exome Variant Server ATP2B3_000035 6/10562 0/6727 6/3835
1 c.406+9C>A r.(=) p.(=) g.152807023C>A Copied from the Exome Variant Server ATP2B3_000036 2/10562 0/6727 2/3835
1 c.406+20G>A r.(=) p.(=) g.152807034G>A Copied from the Exome Variant Server ATP2B3_000037 488/10562 8/6727 480/3835
1 c.406+41del r.(=) p.(=) g.152807055del Copied from the Exome Variant Server ATP2B3_000038 1/10204 1/6484 0/3720
1 c.407-21T>C r.(=) p.(=) g.152807106T>C Copied from the Exome Variant Server ATP2B3_000039 1/10562 1/6727 0/3835
1 c.407-20C>T r.(=) p.(=) g.152807107C>T Copied from the Exome Variant Server ATP2B3_000040 2/10562 2/6727 0/3835
1 c.407-6G>A r.(=) p.(=) g.152807121G>A Copied from the Exome Variant Server ATP2B3_000041 199/10562 0/6727 199/3835
1 c.430G>A r.(?) p.(Ala144Thr) g.152807150G>A Copied from the Exome Variant Server ATP2B3_000042 1/10563 0/6728 1/3835
1 c.563G>A r.(?) p.(Arg188Gln) g.152807283G>A Copied from the Exome Variant Server ATP2B3_000043 82/10563 0/6728 82/3835
1 c.568G>A r.(?) p.(Glu190Lys) g.152807288G>A Copied from the Exome Variant Server ATP2B3_000044 1/10563 1/6728 0/3835
1 c.588G>A r.(=) p.(=) g.152807308G>A Copied from the Exome Variant Server ATP2B3_000045 4/10563 4/6728 0/3835
1 c.600C>T r.(=) p.(=) g.152807320C>T Copied from the Exome Variant Server ATP2B3_000046 1/10563 0/6728 1/3835
1 c.621C>T r.(=) p.(=) g.152807341C>T Copied from the Exome Variant Server ATP2B3_000047 4/10563 1/6728 3/3835
1 c.630G>A r.(=) p.(=) g.152807350G>A Copied from the Exome Variant Server ATP2B3_000048 29/10563 1/6728 28/3835
1 c.664+26C>T r.(=) p.(=) g.152807410C>T Copied from the Exome Variant Server ATP2B3_000049 4/10562 0/6728 4/3834
1 c.664+41G>A r.(=) p.(=) g.152807425G>A Copied from the Exome Variant Server ATP2B3_000050 6580/10559 5781/6727 799/3832
1 c.665-51C>A r.(=) p.(=) g.152807730C>A Copied from the Exome Variant Server ATP2B3_000114 1/10561 1/6726 0/3835
1 c.665-36G>A r.(=) p.(=) g.152807745G>A Copied from the Exome Variant Server ATP2B3_000115 2/10563 2/6728 0/3835
1 c.665-11C>T r.(=) p.(=) g.152807770C>T Copied from the Exome Variant Server ATP2B3_000116 1/10563 1/6728 0/3835
1 c.665-9G>C r.(=) p.(=) g.152807772G>C Copied from the Exome Variant Server ATP2B3_000117 2/10563 0/6728 2/3835
1 c.684C>T r.(=) p.(=) g.152807800C>T Copied from the Exome Variant Server ATP2B3_000083 1/10563 0/6728 1/3835
1 c.694A>C r.(?) p.(Ile232Leu) g.152807810A>C Copied from the Exome Variant Server ATP2B3_000084 31/10563 27/6728 4/3835
1 c.699G>A r.(=) p.(=) g.152807815G>A Copied from the Exome Variant Server ATP2B3_000085 30/10563 0/6728 30/3835
1 c.720C>T r.(=) p.(=) g.152807836C>T Copied from the Exome Variant Server ATP2B3_000086 1/10563 1/6728 0/3835
1 c.734C>T r.(?) p.(Thr245Met) g.152807850C>T Copied from the Exome Variant Server ATP2B3_000087 1/10563 1/6728 0/3835
1 c.749A>C r.(?) p.(His250Pro) g.152807865A>C Copied from the Exome Variant Server ATP2B3_000088 1/10563 1/6728 0/3835
1 c.754C>T r.(?) p.(Arg252Cys) g.152807870C>T Copied from the Exome Variant Server ATP2B3_000089 1/10563 1/6728 0/3835
1 c.790+11del r.(=) p.(=) g.152807917del Copied from the Exome Variant Server ATP2B3_000090 1/10205 1/6484 0/3721
1 c.790+17G>C r.(=) p.(=) g.152807923G>C Copied from the Exome Variant Server ATP2B3_000091 10460/10563 6727/6728 3733/3835
1 c.790+40G>A r.(=) p.(=) g.152807946G>A Copied from the Exome Variant Server ATP2B3_000092 40/10555 0/6722 40/3833
1 c.831C>T r.(=) p.(=) g.152808541C>T Copied from the Exome Variant Server ATP2B3_000093 17/10563 0/6728 17/3835
1 c.841G>A r.(?) p.(Val281Met) g.152808551G>A Copied from the Exome Variant Server ATP2B3_000094 1/10563 0/6728 1/3835
1 c.870G>A r.(=) p.(=) g.152808580G>A Copied from the Exome Variant Server ATP2B3_000095 1/10563 0/6728 1/3835
1 c.886G>A r.(?) p.(Gly296Arg) g.152808596G>A Copied from the Exome Variant Server ATP2B3_000096 6/10563 4/6728 2/3835
1 c.917-59C>T r.(=) p.(=) g.152811487C>T Copied from the Exome Variant Server ATP2B3_000097 6/3600 0/2391 6/1209
1 c.917-56G>A r.(=) p.(=) g.152811490G>A Copied from the Exome Variant Server ATP2B3_000098 1/3600 1/2391 0/1209
1 c.958+10G>A r.(=) p.(=) g.152811597G>A Copied from the Exome Variant Server ATP2B3_000099 1/10559 0/6728 1/3831
1 c.958+29A>T r.(=) p.(=) g.152811616A>T Copied from the Exome Variant Server ATP2B3_000100 1/10559 0/6728 1/3831
1 c.959-47_959-46insC r.(=) p.(=) g.152813246_152813247insC Copied from the Exome Variant Server ATP2B3_000101 1/10204 0/6483 1/3721
1 c.959-11T>C r.(=) p.(=) g.152813282T>C Copied from the Exome Variant Server ATP2B3_000102 2/10563 0/6728 2/3835
1 c.1011G>A r.(=) p.(=) g.152813345G>A Copied from the Exome Variant Server ATP2B3_000103 10/10563 9/6728 1/3835
1 c.1064_1066del r.(?) p.(Glu356del) g.152813398_152813400del Copied from the Exome Variant Server ATP2B3_000104 1/10205 1/6484 0/3721
1 c.1099C>T r.(=) p.(=) g.152813433C>T Copied from the Exome Variant Server ATP2B3_000105 4/10563 3/6728 1/3835
1 c.1123+4G>A r.spl? p.? g.152813461G>A Copied from the Exome Variant Server ATP2B3_000106 2/10563 2/6728 0/3835
1 c.1123+18T>G r.(=) p.(=) g.152813475T>G Copied from the Exome Variant Server ATP2B3_000107 207/10563 4/6728 203/3835
1 c.1123+43C>T r.(=) p.(=) g.152813500C>T Copied from the Exome Variant Server ATP2B3_000118 11/10563 0/6728 11/3835
1 c.1123+44G>A r.(=) p.(=) g.152813501G>A Copied from the Exome Variant Server ATP2B3_000119 2/10563 2/6728 0/3835
1 c.1124-43C>A r.(=) p.(=) g.152814055C>A Copied from the Exome Variant Server ATP2B3_000120 1/10563 0/6728 1/3835
1 c.1124-31C>T r.(=) p.(=) g.152814067C>T Copied from the Exome Variant Server ATP2B3_000121 1/10563 0/6728 1/3835
1 c.1124-16C>T r.(=) p.(=) g.152814082C>T Copied from the Exome Variant Server ATP2B3_000122 2/10563 2/6728 0/3835
1 c.1147G>A r.(?) p.(Val383Ile) g.152814121G>A Copied from the Exome Variant Server ATP2B3_000123 1/10563 1/6728 0/3835
1 c.1224G>A r.(=) p.(=) g.152814198G>A Copied from the Exome Variant Server ATP2B3_000124 150/10563 0/6728 150/3835
1 c.1293G>A r.(=) p.(=) g.152814267G>A Copied from the Exome Variant Server ATP2B3_000125 97/10563 0/6728 97/3835
1 c.1338+29T>C r.(=) p.(=) g.152814341T>C Copied from the Exome Variant Server ATP2B3_000126 1/10563 0/6728 1/3835
1 c.1339-48_1339-47insC r.(=) p.(=) g.152814907_152814908insC Copied from the Exome Variant Server ATP2B3_000127 1/10205 0/6484 1/3721
1 c.1339-12C>T r.(=) p.(=) g.152814943C>T Copied from the Exome Variant Server ATP2B3_000128 1/10563 1/6728 0/3835
1 c.1383C>T r.(=) p.(=) g.152814999C>T Copied from the Exome Variant Server ATP2B3_000129 1/10563 0/6728 1/3835
1 c.1398C>T r.(=) p.(=) g.152815014C>T Copied from the Exome Variant Server ATP2B3_000130 5/10563 0/6728 5/3835
1 c.1399G>A r.(?) p.(Ala467Thr) g.152815015G>A Copied from the Exome Variant Server ATP2B3_000131 2/10563 2/6728 0/3835
1 c.1425G>A r.(=) p.(=) g.152815041G>A Copied from the Exome Variant Server ATP2B3_000132 1/10563 0/6728 1/3835
1 c.1473A>G r.(=) p.(=) g.152815089A>G Copied from the Exome Variant Server ATP2B3_000199 10452/10563 6727/6728 3725/3835
1 c.1491G>C r.(?) p.(Glu497Asp) g.152815107G>C Copied from the Exome Variant Server ATP2B3_000200 9/10563 0/6728 9/3835
1 c.1546A>G r.(?) p.(Ile516Val) g.152815162A>G Copied from the Exome Variant Server ATP2B3_000201 4/10563 0/6728 4/3835
1 c.1581+11G>A r.(=) p.(=) g.152815208G>A Copied from the Exome Variant Server ATP2B3_000202 6/10562 0/6727 6/3835
1 c.1581+35G>A r.(=) p.(=) g.152815232G>A Copied from the Exome Variant Server ATP2B3_000203 7/10477 0/6660 7/3817
1 c.1581+47G>A r.(=) p.(=) g.152815244G>A Copied from the Exome Variant Server ATP2B3_000204 3/10448 3/6647 0/3801
1 c.1582-12G>A r.(=) p.(=) g.152815491G>A Copied from the Exome Variant Server ATP2B3_000158 4/10562 0/6727 4/3835
1 c.1582-5T>C r.spl? p.? g.152815498T>C Copied from the Exome Variant Server ATP2B3_000159 1/10563 1/6728 0/3835
1 c.1632G>A r.(=) p.(=) g.152815553G>A Copied from the Exome Variant Server ATP2B3_000160 4/10563 4/6728 0/3835
1 c.1635C>T r.(=) p.(=) g.152815556C>T Copied from the Exome Variant Server ATP2B3_000161 18/10563 0/6728 18/3835
1 c.1669G>A r.(?) p.(Asp557Asn) g.152815590G>A Copied from the Exome Variant Server ATP2B3_000162 1/10563 0/6728 1/3835
1 c.1680C>T r.(=) p.(=) g.152815601C>T Copied from the Exome Variant Server ATP2B3_000163 1/10563 1/6728 0/3835
1 c.1681G>A r.(?) p.(Val561Met) g.152815602G>A Copied from the Exome Variant Server ATP2B3_000164 1/10563 1/6728 0/3835
1 c.1686C>G r.(=) p.(=) g.152815607C>G Copied from the Exome Variant Server ATP2B3_000165 16/10563 16/6728 0/3835
1 c.1773C>G r.(?) p.(Asp591Glu) g.152815694C>G Copied from the Exome Variant Server ATP2B3_000166 1/10563 0/6728 1/3835
1 c.1823+31C>T r.(=) p.(=) g.152815775C>T Copied from the Exome Variant Server ATP2B3_000167 1/10559 1/6726 0/3833
1 c.1823+51A>G r.(=) p.(=) g.152815795A>G Copied from the Exome Variant Server ATP2B3_000168 1/10548 0/6716 1/3832
1 c.1824-38del r.(=) p.(=) g.152818455del Copied from the Exome Variant Server ATP2B3_000169 3/10205 3/6484 0/3721
1 c.1851C>T r.(=) p.(=) g.152818520C>T Copied from the Exome Variant Server ATP2B3_000170 1/10563 0/6728 1/3835
1 c.1867C>T r.(?) p.(Arg623Trp) g.152818536C>T Copied from the Exome Variant Server ATP2B3_000171 1/10563 1/6728 0/3835
1 c.1868G>A r.(?) p.(Arg623Gln) g.152818537G>A Copied from the Exome Variant Server ATP2B3_000172 2/10563 1/6728 1/3835
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