Unique variants in gene ACP5

Information The variants shown are described using the NM_001111034.1 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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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.1-47G>A r.(=) p.(=) g.11688179C>T Copied from the Exome Variant Server ACP5_000067 1/13002 0/8598 1/4404
1 c.8T>C r.(?) p.(Met3Thr) g.11688125A>G Copied from the Exome Variant Server ACP5_000066 1/13006 0/8600 1/4406
1 c.30G>T r.(=) p.(=) g.11688103C>A Copied from the Exome Variant Server ACP5_000065 3/13006 3/8600 0/4406
1 c.79C>T r.(?) p.(Arg27Cys) g.11688054G>A Copied from the Exome Variant Server ACP5_000064 1/13006 0/8600 1/4406
1 c.80G>A r.(?) p.(Arg27His) g.11688053C>T Copied from the Exome Variant Server ACP5_000063 1/13006 1/8600 0/4406
1 c.90C>T r.(=) p.(=) g.11688043G>A Copied from the Exome Variant Server ACP5_000062 1/13006 0/8600 1/4406
1 c.131C>T r.(?) p.(Thr44Met) g.11688002G>A Copied from the Exome Variant Server ACP5_000061 1/13006 1/8600 0/4406
1 c.132G>A r.(=) p.(=) g.11688001C>T Copied from the Exome Variant Server ACP5_000060 2/13006 1/8600 1/4406
1 c.148A>G r.(?) p.(Asn50Asp) g.11687985T>C Copied from the Exome Variant Server ACP5_000059 1/13006 0/8600 1/4406
1 c.149A>G r.(?) p.(Asn50Ser) g.11687984T>C Copied from the Exome Variant Server ACP5_000058 1/13006 1/8600 0/4406
1 c.166C>T r.(?) p.(Arg56Trp) g.11687967G>A Copied from the Exome Variant Server ACP5_000057 1/13006 0/8600 1/4406
1 c.225C>T r.(=) p.(=) g.11687908G>A Copied from the Exome Variant Server ACP5_000056 1191/13006 1020/8600 171/4406
1 c.261+22G>A r.(=) p.(=) g.11687850C>T Copied from the Exome Variant Server ACP5_000055 8/13006 6/8600 2/4406
1 c.261+36C>A r.(=) p.(=) g.11687836G>T Copied from the Exome Variant Server ACP5_000054 31/13006 0/8600 31/4406
1 c.261+47_261+48insG r.(=) p.(=) g.11687824_11687825insC Copied from the Exome Variant Server ACP5_000053 109/12518 2/8254 107/4264
1 c.276C>T r.(=) p.(=) g.11687644G>A Copied from the Exome Variant Server ACP5_000052 75/13006 4/8600 71/4406
1 c.299G>A r.(?) p.(Arg100His) g.11687621C>T Copied from the Exome Variant Server ACP5_000051 15/13006 15/8600 0/4406
1 c.316G>A r.(?) p.(Val106Met) g.11687604C>T Copied from the Exome Variant Server ACP5_000050 3/13006 3/8600 0/4406
1 c.386G>A r.(?) p.(Arg129His) g.11687534C>T Copied from the Exome Variant Server ACP5_000049 2/13006 2/8600 0/4406
1 c.389+38A>G r.(=) p.(=) g.11687493T>C Copied from the Exome Variant Server ACP5_000048 1/13006 1/8600 0/4406
1 c.390-39G>A r.(=) p.(=) g.11687442C>T Copied from the Exome Variant Server ACP5_000047 1/13006 1/8600 0/4406
1 c.390-11C>G r.(=) p.(=) g.11687414G>C Copied from the Exome Variant Server ACP5_000046 19/13006 0/8600 19/4406
1 c.413G>A r.(?) p.(Arg138His) g.11687380C>T Copied from the Exome Variant Server ACP5_000045 3/13006 0/8600 3/4406
1 c.421T>G r.(?) p.(Phe141Val) g.11687372A>C Copied from the Exome Variant Server ACP5_000044 1/13006 1/8600 0/4406
1 c.442G>A r.(?) p.(Val148Met) g.11687351C>T Copied from the Exome Variant Server ACP5_000043 1196/13006 1020/8600 176/4406
1 c.461T>C r.(?) p.(Met154Thr) g.11687332A>G Copied from the Exome Variant Server ACP5_000042 1/13006 0/8600 1/4406
1 c.477A>C r.(=) p.(=) g.11687316T>G Copied from the Exome Variant Server ACP5_000041 1/13006 0/8600 1/4406
1 c.480A>G r.(=) p.(=) g.11687313T>C Copied from the Exome Variant Server ACP5_000040 1/13006 1/8600 0/4406
1 c.493G>A r.(?) p.(Asp165Asn) g.11687300C>T Copied from the Exome Variant Server ACP5_000039 1/13006 0/8600 1/4406
1 c.521G>A r.(?) p.(Arg174Lys) g.11687272C>T Copied from the Exome Variant Server ACP5_000038 1/13006 0/8600 1/4406
1 c.531C>T r.(=) p.(=) g.11687262G>A Copied from the Exome Variant Server ACP5_000037 1/13006 0/8600 1/4406
1 c.532G>A r.(?) p.(Val178Met) g.11687261C>T Copied from the Exome Variant Server ACP5_000036 1/13006 1/8600 0/4406
1 c.543C>A r.(=) p.(=) g.11687250G>T Copied from the Exome Variant Server ACP5_000035 7/13006 5/8600 2/4406
1 c.544C>T r.(?) p.(Arg182Cys) g.11687249G>A Copied from the Exome Variant Server ACP5_000034 9/13006 1/8600 8/4406
1 c.548C>A r.(?) p.(Thr183Lys) g.11687245G>T Copied from the Exome Variant Server ACP5_000033 1/13006 1/8600 0/4406
1 c.582G>A r.(=) p.(=) g.11687211C>T Copied from the Exome Variant Server ACP5_000032 1/13006 1/8600 0/4406
1 c.598G>A r.(?) p.(Val200Met) g.11687195C>T Copied from the Exome Variant Server ACP5_000031 1068/13002 942/8598 126/4404
1 c.621C>T r.(=) p.(=) g.11687172G>A Copied from the Exome Variant Server ACP5_000030 1/13006 1/8600 0/4406
1 c.636C>T r.(=) p.(=) g.11687157G>A Copied from the Exome Variant Server ACP5_000029 1/13004 1/8598 0/4406
1 c.637G>C r.(?) p.(Glu213Gln) g.11687156C>G Copied from the Exome Variant Server ACP5_000028 5/13004 5/8598 0/4406
1 c.652C>T r.(?) p.(His218Tyr) g.11687141G>A Copied from the Exome Variant Server ACP5_000027 2/13004 2/8598 0/4406
1 c.661G>A r.(?) p.(Val221Ile) g.11687132C>T Copied from the Exome Variant Server ACP5_000026 567/13004 1/8598 566/4406
1 c.682C>G r.(?) p.(Leu228Val) g.11687111G>C Copied from the Exome Variant Server ACP5_000025 1/13006 0/8600 1/4406
1 c.694G>A r.(?) p.(Gly232Arg) g.11687099C>T Copied from the Exome Variant Server ACP5_000024 2/13006 0/8600 2/4406
1 c.720C>T r.(=) p.(=) g.11687073G>A Copied from the Exome Variant Server ACP5_000023 1/13006 1/8600 0/4406
1 c.730C>T r.(=) p.(=) g.11687063G>A Copied from the Exome Variant Server ACP5_000022 1/13004 0/8600 1/4404
1 c.756C>T r.(=) p.(=) g.11686047G>A Copied from the Exome Variant Server ACP5_000021 1/13006 1/8600 0/4406
1 c.757G>A r.(?) p.(Val253Met) g.11686046C>T Copied from the Exome Variant Server ACP5_000020 1/13006 0/8600 1/4406
1 c.766G>C r.(?) p.(Val256Leu) g.11686037C>G Copied from the Exome Variant Server ACP5_000019 7/13006 6/8600 1/4406
1 c.777G>T r.(=) p.(=) g.11686026C>A Copied from the Exome Variant Server ACP5_000018 1/13006 0/8600 1/4406
1 c.783G>A r.(=) p.(=) g.11686020C>T Copied from the Exome Variant Server ACP5_000017 1/13006 0/8600 1/4406
1 c.805C>T r.(?) p.(Arg269Trp) g.11685998G>A Copied from the Exome Variant Server ACP5_000016 3/13006 3/8600 0/4406
1 c.814C>T r.(?) p.(Arg272Cys) g.11685989G>A Copied from the Exome Variant Server ACP5_000015 57/13006 54/8600 3/4406
1 c.815G>A r.(?) p.(Arg272His) g.11685988C>T Copied from the Exome Variant Server ACP5_000014 2/13006 2/8600 0/4406
1 c.828C>T r.(=) p.(=) g.11685975G>A Copied from the Exome Variant Server ACP5_000013 1/13006 0/8600 1/4406
1 c.829G>A r.(?) p.(Gly277Ser) g.11685974C>T Copied from the Exome Variant Server ACP5_000012 1/13006 1/8600 0/4406
1 c.855T>C r.(=) p.(=) g.11685948A>G Copied from the Exome Variant Server ACP5_000011 485/13006 7/8600 478/4406
1 c.860A>C r.(?) p.(Asp287Ala) g.11685943T>G Copied from the Exome Variant Server ACP5_000010 30/13006 0/8600 30/4406
1 c.861C>T r.(=) p.(=) g.11685942G>A Copied from the Exome Variant Server ACP5_000009 11/13006 10/8600 1/4406
1 c.866T>C r.(?) p.(Leu289Pro) g.11685937A>G Copied from the Exome Variant Server ACP5_000008 1/13006 1/8600 0/4406
1 c.950C>G r.(?) p.(Thr317Ser) g.11685853G>C Copied from the Exome Variant Server ACP5_000007 3/13006 3/8600 0/4406
1 c.955C>T r.(=) p.(=) g.11685848G>A Copied from the Exome Variant Server ACP5_000006 17/13006 0/8600 17/4406
1 c.960G>A r.(=) p.(=) g.11685843C>T Copied from the Exome Variant Server ACP5_000005 1/13006 0/8600 1/4406
1 c.964C>T r.(?) p.(Arg322*) g.11685839G>A Copied from the Exome Variant Server ACP5_000004 3/13006 2/8600 1/4406
1 c.965G>A r.(?) p.(Arg322Gln) g.11685838C>T Copied from the Exome Variant Server ACP5_000003 1/13006 1/8600 0/4406
1 c.971G>A r.(?) p.(Arg324Lys) g.11685832C>T Copied from the Exome Variant Server ACP5_000002 4/13006 0/8600 4/4406
1 c.*28C>T r.(=) p.(=) g.11685797G>A Copied from the Exome Variant Server ACP5_000001 1/13006 0/8600 1/4406
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