All transcript variants in gene ABCE1

Information The variants shown are described using the NM_002940.2 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-20G>A r.(=) p.(=) g.146025545G>A Copied from the Exome Variant Server ABCE1_000001 1/13006 1/8600 0/4406
?/? c.-16A>G r.(=) p.(=) g.146025549A>G Copied from the Exome Variant Server ABCE1_000002 4/13006 0/8600 4/4406
?/? c.18G>A r.(=) p.(=) g.146025582G>A Copied from the Exome Variant Server ABCE1_000003 1/13006 0/8600 1/4406
?/? c.103+23T>A r.(=) p.(=) g.146025690T>A Copied from the Exome Variant Server ABCE1_000004 1/13004 0/8600 1/4404
?/? c.103+41A>G r.(=) p.(=) g.146025708A>G Copied from the Exome Variant Server ABCE1_000005 19/13002 0/8600 19/4402
?/? c.103+49A>T r.(=) p.(=) g.146025716A>T Copied from the Exome Variant Server ABCE1_000006 2/12994 2/8592 0/4402
?/? c.189+31G>A r.(=) p.(=) g.146026873G>A Copied from the Exome Variant Server ABCE1_000007 1/13004 1/8598 0/4406
?/? c.189+38C>T r.(=) p.(=) g.146026880C>T Copied from the Exome Variant Server ABCE1_000008 1/13002 1/8596 0/4406
?/? c.214A>G r.(?) p.(Ile72Val) g.146029191A>G Copied from the Exome Variant Server ABCE1_000009 1/13006 0/8600 1/4406
?/? c.287+16A>G r.(=) p.(=) g.146029280A>G Copied from the Exome Variant Server ABCE1_000010 7/13006 3/8600 4/4406
?/? c.287+19A>T r.(=) p.(=) g.146029283A>T Copied from the Exome Variant Server ABCE1_000011 1/13006 1/8600 0/4406
?/? c.287+25C>T r.(=) p.(=) g.146029289C>T Copied from the Exome Variant Server ABCE1_000012 8/13006 0/8600 8/4406
?/? c.287+36T>A r.(=) p.(=) g.146029300T>A Copied from the Exome Variant Server ABCE1_000013 1/13006 1/8600 0/4406
?/? c.287+39A>G r.(=) p.(=) g.146029303A>G Copied from the Exome Variant Server ABCE1_000014 2/13006 0/8600 2/4406
?/? c.288-13A>G r.(=) p.(=) g.146030271A>G Copied from the Exome Variant Server ABCE1_000015 1/13006 1/8600 0/4406
?/? c.330A>T r.(=) p.(=) g.146030326A>T Copied from the Exome Variant Server ABCE1_000017 65/13006 1/8600 64/4406
?/? c.405T>C r.(=) p.(=) g.146030401T>C Copied from the Exome Variant Server ABCE1_000019 2/13006 2/8600 0/4406
?/? c.406-18_406-17del r.(=) p.(=) g.146031237_146031238del Copied from the Exome Variant Server ABCE1_000021 249/11686 169/7838 80/3848
?/? c.406-17del r.(=) p.(=) g.146031238del Copied from the Exome Variant Server ABCE1_000025 3209/11686 2129/7838 1080/3848
?/? c.406-17dup r.(=) p.(=) g.146031238dup Copied from the Exome Variant Server ABCE1_000023 1193/11686 783/7838 410/3848
?/? c.490C>T r.(=) p.(=) g.146031339C>T Copied from the Exome Variant Server ABCE1_000027 3/13004 0/8598 3/4406
?/? c.543+4G>A r.spl? p.? g.146031396G>A Copied from the Exome Variant Server ABCE1_000029 60/13006 0/8600 60/4406
?/? c.543+27C>T r.(=) p.(=) g.146031419C>T Copied from the Exome Variant Server ABCE1_000016 2/13006 0/8600 2/4406
?/? c.543+35A>G r.(=) p.(=) g.146031427A>G Copied from the Exome Variant Server ABCE1_000018 69/13006 1/8600 68/4406
?/? c.613+7G>T r.(=) p.(=) g.146031603G>T Copied from the Exome Variant Server ABCE1_000020 105/13006 1/8600 104/4406
?/? c.613+52del r.(=) p.(=) g.146031648del Copied from the Exome Variant Server ABCE1_000022 1/12518 1/8254 0/4264
?/? c.614-40G>A r.(=) p.(=) g.146032080G>A Copied from the Exome Variant Server ABCE1_000024 1/13006 0/8600 1/4406
?/? c.614-28G>T r.(=) p.(=) g.146032092G>T Copied from the Exome Variant Server ABCE1_000026 3/13006 0/8600 3/4406
?/? c.614-19G>A r.(=) p.(=) g.146032101G>A Copied from the Exome Variant Server ABCE1_000028 1/13006 1/8600 0/4406
?/? c.614-13A>G r.(=) p.(=) g.146032107A>G Copied from the Exome Variant Server ABCE1_000030 2/13006 1/8600 1/4406
?/? c.614A>G r.(?) p.(Asp205Gly) g.146032120A>G Copied from the Exome Variant Server ABCE1_000031 1/13006 1/8600 0/4406
?/? c.687C>T r.(=) p.(=) g.146032193C>T Copied from the Exome Variant Server ABCE1_000032 22/13006 21/8600 1/4406
?/? c.710+22G>A r.(=) p.(=) g.146032238G>A Copied from the Exome Variant Server ABCE1_000033 1/13006 1/8600 0/4406
?/? c.710+36G>A r.(=) p.(=) g.146032252G>A Copied from the Exome Variant Server ABCE1_000034 1/13006 1/8600 0/4406
?/? c.711-30A>G r.(=) p.(=) g.146033361A>G Copied from the Exome Variant Server ABCE1_000035 1/12890 0/8538 1/4352
?/? c.726G>A r.(=) p.(=) g.146033406G>A Copied from the Exome Variant Server ABCE1_000036 88/13002 1/8598 87/4404
?/? c.800+10G>T r.(=) p.(=) g.146033490G>T Copied from the Exome Variant Server ABCE1_000037 1/13002 0/8598 1/4404
?/? c.800+54A>G r.(=) p.(=) g.146033534A>G Copied from the Exome Variant Server ABCE1_000038 5/4564 5/3180 0/1384
?/? c.801-41G>C r.(=) p.(=) g.146038404G>C Copied from the Exome Variant Server ABCE1_000039 57/12990 1/8594 56/4396
?/? c.801-29T>A r.(=) p.(=) g.146038416T>A Copied from the Exome Variant Server ABCE1_000040 2/12994 0/8596 2/4398
?/? c.804T>C r.(=) p.(=) g.146038448T>C Copied from the Exome Variant Server ABCE1_000041 10/12998 7/8596 3/4402
?/? c.863G>A r.(?) p.(Cys288Tyr) g.146038507G>A Copied from the Exome Variant Server ABCE1_000042 1/12998 1/8592 0/4406
?/? c.922+7T>G r.(=) p.(=) g.146038573T>G Copied from the Exome Variant Server ABCE1_000043 1/13004 0/8598 1/4406
?/? c.922+15T>G r.(=) p.(=) g.146038581T>G Copied from the Exome Variant Server ABCE1_000044 4/13004 0/8598 4/4406
?/? c.923-25C>T r.(=) p.(=) g.146041059C>T Copied from the Exome Variant Server ABCE1_000045 2/12992 1/8588 1/4404
?/? c.923-24G>A r.(=) p.(=) g.146041060G>A Copied from the Exome Variant Server ABCE1_000046 2/12994 0/8590 2/4404
?/? c.1103A>G r.(?) p.(Glu368Gly) g.146041264A>G Copied from the Exome Variant Server ABCE1_000047 1/13004 1/8598 0/4406
?/? c.1145-29G>C r.(=) p.(=) g.146042297G>C Copied from the Exome Variant Server ABCE1_000048 1/13006 1/8600 0/4406
?/? c.1204+29C>G r.(=) p.(=) g.146042414C>G Copied from the Exome Variant Server ABCE1_000049 2/13006 2/8600 0/4406
?/? c.1205-40G>C r.(=) p.(=) g.146042445G>C Copied from the Exome Variant Server ABCE1_000050 571/13006 516/8600 55/4406
?/? c.1257A>G r.(=) p.(=) g.146042537A>G Copied from the Exome Variant Server ABCE1_000051 1/12998 1/8598 0/4400
?/? c.1263+8A>G r.(=) p.(=) g.146042551A>G Copied from the Exome Variant Server ABCE1_000052 2/12950 0/8582 2/4368
?/? c.1263+43A>G r.(=) p.(=) g.146042586A>G Copied from the Exome Variant Server ABCE1_000053 2/12694 2/8504 0/4190
?/? c.1264-43A>G r.(=) p.(=) g.146044130A>G Copied from the Exome Variant Server ABCE1_000054 1/12238 1/8318 0/3920
?/? c.1264-8del r.(=) p.(=) g.146044165del Copied from the Exome Variant Server ABCE1_000055 21/12240 6/8146 15/4094
?/? c.1326G>A r.(=) p.(=) g.146044235G>A Copied from the Exome Variant Server ABCE1_000056 1/12986 1/8592 0/4394
?/? c.1329C>T r.(=) p.(=) g.146044238C>T Copied from the Exome Variant Server ABCE1_000057 4/12990 0/8594 4/4396
?/? c.1374+14_1374+15insT r.(=) p.(=) g.146044297_146044298insT Copied from the Exome Variant Server ABCE1_000058 7/12398 2/8220 5/4178
?/? c.1374+40A>C r.(=) p.(=) g.146044323A>C Copied from the Exome Variant Server ABCE1_000059 1/13002 1/8598 0/4404
?/? c.1399C>T r.(=) p.(=) g.146044391C>T Copied from the Exome Variant Server ABCE1_000060 1/13006 1/8600 0/4406
?/? c.1401A>G r.(=) p.(=) g.146044393A>G Copied from the Exome Variant Server ABCE1_000061 5/13006 0/8600 5/4406
?/? c.1425C>T r.(=) p.(=) g.146044417C>T Copied from the Exome Variant Server ABCE1_000062 174/13006 2/8600 172/4406
?/? c.1517+16C>A r.(=) p.(=) g.146044525C>A Copied from the Exome Variant Server ABCE1_000063 65/13000 1/8598 64/4402
?/? c.1517+24A>G r.(=) p.(=) g.146044533A>G Copied from the Exome Variant Server ABCE1_000064 4/12996 0/8596 4/4400
?/? c.1517+30A>C r.(=) p.(=) g.146044539A>C Copied from the Exome Variant Server ABCE1_000065 2/13000 0/8600 2/4400
?/? c.1517+32_1517+35del r.(=) p.(=) g.146044541_146044544del Copied from the Exome Variant Server ABCE1_000066 12/12512 8/8254 4/4258
?/? c.1517+37A>T r.(=) p.(=) g.146044546A>T Copied from the Exome Variant Server ABCE1_000068 2/13006 0/8600 2/4406
?/? c.1522A>G r.(?) p.(Ile508Val) g.146044634A>G Copied from the Exome Variant Server ABCE1_000070 1/13006 1/8600 0/4406
?/? c.1587G>A r.(=) p.(=) g.146044699G>A Copied from the Exome Variant Server ABCE1_000072 1/13000 0/8594 1/4406
?/? c.1620T>C r.(=) p.(=) g.146044732T>C Copied from the Exome Variant Server ABCE1_000074 2/13006 2/8600 0/4406
?/? c.1641-49C>T r.(=) p.(=) g.146046093C>T Copied from the Exome Variant Server ABCE1_000076 1/12542 0/8460 1/4082
?/? c.1641-4T>C r.spl? p.? g.146046138T>C Copied from the Exome Variant Server ABCE1_000078 12792/12968 8582/8584 4210/4384
?/? c.1752+41C>T r.(=) p.(=) g.146046294C>T Copied from the Exome Variant Server ABCE1_000067 1/12998 0/8594 1/4404
?/? c.1753-69G>A r.(=) p.(=) g.146048609G>A Copied from the Exome Variant Server ABCE1_000069 30/4566 0/3182 30/1384
?/? c.1753-51C>T r.(=) p.(=) g.146048627C>T Copied from the Exome Variant Server ABCE1_000071 1/13006 0/8600 1/4406
?/? c.1753-49A>G r.(=) p.(=) g.146048629A>G Copied from the Exome Variant Server ABCE1_000073 1/13006 0/8600 1/4406
?/? c.1753-47A>G r.(=) p.(=) g.146048631A>G Copied from the Exome Variant Server ABCE1_000075 1/13006 1/8600 0/4406
?/? c.1753-44A>G r.(=) p.(=) g.146048634A>G Copied from the Exome Variant Server ABCE1_000077 1/13006 1/8600 0/4406
?/? c.*9_*10del r.(=) p.(=) g.146048734_146048735del Copied from the Exome Variant Server ABCE1_000079 1/12518 1/8254 0/4264
?/? c.*10G>C r.(=) p.(=) g.146048735G>C Copied from the Exome Variant Server ABCE1_000080 9/13004 8/8600 1/4404
?/? c.*24G>A r.(=) p.(=) g.146048749G>A Copied from the Exome Variant Server ABCE1_000081 1/13000 1/8598 0/4402
?/? c.*38G>C r.(=) p.(=) g.146048763G>C Copied from the Exome Variant Server ABCE1_000082 1/12988 0/8592 1/4396
?/? c.*63A>G r.(=) p.(=) g.146048788A>G Copied from the Exome Variant Server ABCE1_000083 7/4560 7/3176 0/1384
Legend