Unique variants in gene APOA5

Information The variants shown are described using the NM_001166598.1 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.-8-34C>T r.(=) p.(=) g.116662618G>A Copied from the Exome Variant Server APOA5_000067 3/12994 0/8592 3/4402
1 c.-8-3C>G r.spl? p.? g.116662587G>C Copied from the Exome Variant Server APOA5_000066 3/12994 2/8592 1/4402
1 c.-3G>A N/A N/A g.116662579C>T Copied from the Exome Variant Server APOA5_000065 11766/12994 8002/8592 3764/4402
1 c.49+14C>T r.(=) p.(=) g.116662514G>A Copied from the Exome Variant Server APOA5_000064 1/12994 0/8592 1/4402
1 c.49+25C>T r.(=) p.(=) g.116662503G>A Copied from the Exome Variant Server APOA5_000063 1/12994 1/8592 0/4402
1 c.49+35del r.(=) p.(=) g.116662493del Copied from the Exome Variant Server APOA5_000062 1/12518 0/8254 1/4264
1 c.49+38G>A r.(=) p.(=) g.116662490C>T Copied from the Exome Variant Server APOA5_000061 1/12994 0/8592 1/4402
1 c.49+55G>T r.(=) p.(=) g.116662473C>A Copied from the Exome Variant Server APOA5_000060 215/4566 4/3182 211/1384
1 c.50-36G>C r.(=) p.(=) g.116662449C>G Copied from the Exome Variant Server APOA5_000059 1/12992 1/8592 0/4400
1 c.50-28G>A r.(=) p.(=) g.116662441C>T Copied from the Exome Variant Server APOA5_000058 94/12994 0/8592 94/4402
1 c.56C>G r.(?) p.(Ser19Trp) g.116662407G>C Copied from the Exome Variant Server APOA5_000057 827/12994 558/8592 269/4402
1 c.70C>A r.(=) p.(=) g.116662393G>T Copied from the Exome Variant Server APOA5_000056 8/12990 6/8590 2/4400
1 c.85G>A r.(?) p.(Asp29Asn) g.116662378C>T Copied from the Exome Variant Server APOA5_000055 1/12990 1/8592 0/4398
1 c.106G>C r.(?) p.(Gly36Arg) g.116662357C>G Copied from the Exome Variant Server APOA5_000054 1/12990 0/8592 1/4398
1 c.111C>A r.(?) p.(Asp37Glu) g.116662352G>T Copied from the Exome Variant Server APOA5_000053 149/12990 4/8592 145/4398
1 c.119G>T r.(?) p.(Arg40Met) g.116662344C>A Copied from the Exome Variant Server APOA5_000052 14/12990 1/8592 13/4398
1 c.132C>A r.(=) p.(=) g.116662331G>T Copied from the Exome Variant Server APOA5_000051 1330/12990 581/8592 749/4398
1 c.153C>A r.(=) p.(=) g.116662310G>T Copied from the Exome Variant Server APOA5_000050 1/12988 0/8590 1/4398
1 c.161+3G>A r.spl? p.? g.116662299C>T Copied from the Exome Variant Server APOA5_000048 1/12990 1/8590 0/4400
1 c.161+5G>C r.spl? p.? g.116662297C>G Copied from the Exome Variant Server APOA5_000049 1/12990 1/8590 0/4400
1 c.161+19G>A r.(=) p.(=) g.116662283C>T Copied from the Exome Variant Server APOA5_000047 3/12990 2/8590 1/4400
1 c.161+28C>T r.(=) p.(=) g.116662274G>A Copied from the Exome Variant Server APOA5_000046 1/12982 0/8582 1/4400
1 c.162-43A>G r.(=) p.(=) g.116661826T>C Copied from the Exome Variant Server APOA5_000045 11434/11956 7478/7946 3956/4010
1 c.162-8T>G r.(=) p.(=) g.116661791A>C Copied from the Exome Variant Server APOA5_000044 6/12396 0/8240 6/4156
1 c.165C>G r.(=) p.(=) g.116661780G>C Copied from the Exome Variant Server APOA5_000043 10/12500 8/8300 2/4200
1 c.168G>C r.(=) p.(=) g.116661777C>G Copied from the Exome Variant Server APOA5_000042 3/12494 3/8304 0/4190
1 c.199A>G r.(?) p.(Met67Val) g.116661746T>C Copied from the Exome Variant Server APOA5_000041 1/12872 0/8518 1/4354
1 c.280C>T r.(?) p.(Arg94Trp) g.116661665G>A Copied from the Exome Variant Server APOA5_000040 4/12854 4/8486 0/4368
1 c.294G>C r.(?) p.(Glu98Asp) g.116661651C>G Copied from the Exome Variant Server APOA5_000039 3/12984 3/8586 0/4398
1 c.295G>A r.(?) p.(Glu99Lys) g.116661650C>T Copied from the Exome Variant Server APOA5_000038 3/12986 3/8588 0/4398
1 c.313G>T r.(?) p.(Ala105Ser) g.116661632C>A Copied from the Exome Variant Server APOA5_000037 4/12994 0/8592 4/4402
1 c.331A>G r.(?) p.(Met111Val) g.116661614T>C Copied from the Exome Variant Server APOA5_000036 1/12994 1/8592 0/4402
1 c.376C>A r.(=) p.(=) g.116661569G>T Copied from the Exome Variant Server APOA5_000035 2/12992 1/8590 1/4402
1 c.434A>G r.(?) p.(Gln145Arg) g.116661511T>C Copied from the Exome Variant Server APOA5_000034 2/12994 2/8592 0/4402
1 c.457G>A r.(?) p.(Val153Met) g.116661488C>T Copied from the Exome Variant Server APOA5_000033 619/12994 249/8592 370/4402
1 c.504G>C r.(?) p.(Glu168Asp) g.116661441C>G Copied from the Exome Variant Server APOA5_000032 1/12994 1/8592 0/4402
1 c.519G>A r.(=) p.(=) g.116661426C>T Copied from the Exome Variant Server APOA5_000031 1/12992 0/8592 1/4400
1 c.553G>T r.(?) p.(Gly185Cys) g.116661392C>A Copied from the Exome Variant Server APOA5_000030 14/12992 5/8590 9/4402
1 c.554G>A r.(?) p.(Gly185Asp) g.116661391C>T Copied from the Exome Variant Server APOA5_000029 1/12992 0/8590 1/4402
1 c.597G>A r.(=) p.(=) g.116661348C>T Copied from the Exome Variant Server APOA5_000028 2/12942 1/8560 1/4382
1 c.606C>T r.(=) p.(=) g.116661339G>A Copied from the Exome Variant Server APOA5_000027 2/12902 0/8536 2/4366
1 c.636T>C r.(=) p.(=) g.116661309A>G Copied from the Exome Variant Server APOA5_000026 1/12682 1/8378 0/4304
1 c.637G>A r.(?) p.(Val213Met) g.116661308C>T Copied from the Exome Variant Server APOA5_000025 1/12658 0/8360 1/4298
1 c.644C>T r.(?) p.(Pro215Leu) g.116661301G>A Copied from the Exome Variant Server APOA5_000024 8/12534 0/8272 8/4262
1 c.648C>T r.(=) p.(=) g.116661297G>A Copied from the Exome Variant Server APOA5_000023 3/12438 2/8206 1/4232
1 c.696C>G r.(=) p.(=) g.116661249G>C Copied from the Exome Variant Server APOA5_000022 85/12958 0/8562 85/4396
1 c.733C>T r.(?) p.(Arg245Cys) g.116661212G>A Copied from the Exome Variant Server APOA5_000021 1/12990 0/8590 1/4400
1 c.751G>A r.(?) p.(Asp251Asn) g.116661194C>T Copied from the Exome Variant Server APOA5_000020 1/12992 0/8590 1/4402
1 c.823C>T r.(?) p.(Gln275*) g.116661122G>A Copied from the Exome Variant Server APOA5_000019 2/12994 2/8592 0/4402
1 c.830T>C r.(?) p.(Leu277Pro) g.116661115A>G Copied from the Exome Variant Server APOA5_000018 1/12994 1/8592 0/4402
1 c.837G>T r.(?) p.(Glu279Asp) g.116661108C>A Copied from the Exome Variant Server APOA5_000017 1/12994 0/8592 1/4402
1 c.841G>A r.(?) p.(Val281Met) g.116661104C>T Copied from the Exome Variant Server APOA5_000016 1/12994 1/8592 0/4402
1 c.848A>G r.(?) p.(Gln283Arg) g.116661097T>C Copied from the Exome Variant Server APOA5_000015 1/12994 1/8592 0/4402
1 c.894C>T r.(=) p.(=) g.116661051G>A Copied from the Exome Variant Server APOA5_000014 1/12994 0/8592 1/4402
1 c.902G>A r.(?) p.(Arg301His) g.116661043C>T Copied from the Exome Variant Server APOA5_000013 1/12994 1/8592 0/4402
1 c.937C>T r.(?) p.(Gln313*) g.116661008G>A Copied from the Exome Variant Server APOA5_000012 1/12994 1/8592 0/4402
1 c.944C>T r.(?) p.(Ala315Val) g.116661001G>A Copied from the Exome Variant Server APOA5_000011 11/12994 11/8592 0/4402
1 c.962A>T r.(?) p.(His321Leu) g.116660983T>A Copied from the Exome Variant Server APOA5_000010 2/12994 2/8592 0/4402
1 c.975C>T r.(=) p.(=) g.116660970G>A Copied from the Exome Variant Server APOA5_000009 57/12994 0/8592 57/4402
1 c.1001G>T r.(?) p.(Gly334Val) g.116660944C>A Copied from the Exome Variant Server APOA5_000008 2/12994 0/8592 2/4402
1 c.1036G>A r.(?) p.(Asp346Asn) g.116660909C>T Copied from the Exome Variant Server APOA5_000007 1/12994 0/8592 1/4402
1 c.*9C>A r.(=) p.(=) g.116660835G>T Copied from the Exome Variant Server APOA5_000006 1/12994 0/8592 1/4402
1 c.*12C>T r.(=) p.(=) g.116660832G>A Copied from the Exome Variant Server APOA5_000005 10/12994 10/8592 0/4402
1 c.*25C>T r.(=) p.(=) g.116660819G>A Copied from the Exome Variant Server APOA5_000004 1/12994 0/8592 1/4402
1 c.*31C>T r.(=) p.(=) g.116660813G>A Copied from the Exome Variant Server APOA5_000003 2587/12994 2079/8592 508/4402
1 c.*47T>G r.(=) p.(=) g.116660797A>C Copied from the Exome Variant Server APOA5_000002 1/12992 1/8592 0/4400
1 c.*50G>T r.(=) p.(=) g.116660794C>A Copied from the Exome Variant Server APOA5_000001 1/12992 1/8592 0/4400
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