All transcript variants in gene AMIGO2

Information The variants shown are described using the NM_181847.4 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-43G>A r.(=) p.(=) g.47472828C>T Copied from the Exome Variant Server AMIGO2_000043 5/12984 0/8584 5/4400
?/? c.-25G>A r.(=) p.(=) g.47472810C>T Copied from the Exome Variant Server AMIGO2_000041 147/13002 2/8596 145/4406
?/? c.-24G>A r.(=) p.(=) g.47472809C>T Copied from the Exome Variant Server AMIGO2_000039 395/13002 3/8596 392/4406
?/? c.-8C>G r.(=) p.(=) g.47472793G>C Copied from the Exome Variant Server AMIGO2_000036 3/13006 0/8600 3/4406
?/? c.-2T>G r.(=) p.(=) g.47472787A>C Copied from the Exome Variant Server AMIGO2_000033 1/13006 1/8600 0/4406
?/? c.34C>T r.(?) p.(Leu12Phe) g.47472752G>A Copied from the Exome Variant Server AMIGO2_000055 3/13006 2/8600 1/4406
?/? c.64G>C r.(?) p.(Glu22Gln) g.47472722C>G Copied from the Exome Variant Server AMIGO2_000054 1/13006 1/8600 0/4406
?/? c.85A>G r.(?) p.(Ile29Val) g.47472701T>C Copied from the Exome Variant Server AMIGO2_000053 3/13006 1/8600 2/4406
?/? c.93G>A r.(=) p.(=) g.47472693C>T Copied from the Exome Variant Server AMIGO2_000052 653/13006 10/8600 643/4406
?/? c.117G>A r.(=) p.(=) g.47472669C>T Copied from the Exome Variant Server AMIGO2_000051 2/13006 0/8600 2/4406
?/? c.137T>C r.(?) p.(Ile46Thr) g.47472649A>G Copied from the Exome Variant Server AMIGO2_000050 1/13006 0/8600 1/4406
?/? c.231T>C r.(=) p.(=) g.47472555A>G Copied from the Exome Variant Server AMIGO2_000049 1/13006 1/8600 0/4406
?/? c.255T>C r.(=) p.(=) g.47472531A>G Copied from the Exome Variant Server AMIGO2_000048 2/13006 2/8600 0/4406
?/? c.261G>T r.(?) p.(Trp87Cys) g.47472525C>A Copied from the Exome Variant Server AMIGO2_000047 4/13006 0/8600 4/4406
?/? c.272C>T r.(?) p.(Ser91Leu) g.47472514G>A Copied from the Exome Variant Server AMIGO2_000046 1/13006 1/8600 0/4406
?/? c.364C>G r.(?) p.(Leu122Val) g.47472422G>C Copied from the Exome Variant Server AMIGO2_000045 1/13006 1/8600 0/4406
?/? c.645G>T r.(=) p.(=) g.47472141C>A Copied from the Exome Variant Server AMIGO2_000044 1/13006 0/8600 1/4406
?/? c.646C>T r.(?) p.(Pro216Ser) g.47472140G>A Copied from the Exome Variant Server AMIGO2_000042 1/13006 0/8600 1/4406
?/? c.693C>T r.(=) p.(=) g.47472093G>A Copied from the Exome Variant Server AMIGO2_000040 1/13006 1/8600 0/4406
?/? c.703T>G r.(?) p.(Ser235Ala) g.47472083A>C Copied from the Exome Variant Server AMIGO2_000037 1/13006 1/8600 0/4406
?/? c.753G>A r.(=) p.(=) g.47472033C>T Copied from the Exome Variant Server AMIGO2_000034 1/13006 1/8600 0/4406
?/? c.783C>T r.(=) p.(=) g.47472003G>A Copied from the Exome Variant Server AMIGO2_000032 1/13006 1/8600 0/4406
?/? c.796T>C r.(?) p.(Ser266Pro) g.47471990A>G Copied from the Exome Variant Server AMIGO2_000030 1/13006 1/8600 0/4406
?/? c.801G>T r.(?) p.(Arg267Ser) g.47471985C>A Copied from the Exome Variant Server AMIGO2_000028 1/13006 0/8600 1/4406
?/? c.806C>T r.(?) p.(Ser269Leu) g.47471980G>A Copied from the Exome Variant Server AMIGO2_000026 6/13006 5/8600 1/4406
?/? c.832A>G r.(?) p.(Ser278Gly) g.47471954T>C Copied from the Exome Variant Server AMIGO2_000024 1/13006 0/8600 1/4406
?/? c.839T>G r.(?) p.(Met280Arg) g.47471947A>C Copied from the Exome Variant Server AMIGO2_000022 1/13006 0/8600 1/4406
?/? c.875G>A r.(?) p.(Arg292His) g.47471911C>T Copied from the Exome Variant Server AMIGO2_000020 2/13006 2/8600 0/4406
?/? c.970G>A r.(?) p.(Val324Met) g.47471816C>T Copied from the Exome Variant Server AMIGO2_000018 1/13006 1/8600 0/4406
?/? c.1090A>G r.(?) p.(Ile364Val) g.47471696T>C Copied from the Exome Variant Server AMIGO2_000016 1/13006 1/8600 0/4406
?/? c.1107A>G r.(=) p.(=) g.47471679T>C Copied from the Exome Variant Server AMIGO2_000038 1/13006 1/8600 0/4406
?/? c.1158T>C r.(=) p.(=) g.47471628A>G Copied from the Exome Variant Server AMIGO2_000035 1/13006 0/8600 1/4406
?/? c.1177C>T r.(?) p.(His393Tyr) g.47471609G>A Copied from the Exome Variant Server AMIGO2_000031 6/13006 0/8600 6/4406
?/? c.1231G>A r.(?) p.(Val411Ile) g.47471555C>T Copied from the Exome Variant Server AMIGO2_000029 1/13006 0/8600 1/4406
?/? c.1268C>T r.(?) p.(Pro423Leu) g.47471518G>A Copied from the Exome Variant Server AMIGO2_000027 1/13006 1/8600 0/4406
?/? c.1280A>G r.(?) p.(Lys427Arg) g.47471506T>C Copied from the Exome Variant Server AMIGO2_000025 1/13006 0/8600 1/4406
?/? c.1320C>T r.(=) p.(=) g.47471466G>A Copied from the Exome Variant Server AMIGO2_000023 2/13006 2/8600 0/4406
?/? c.1347C>T r.(=) p.(=) g.47471439G>A Copied from the Exome Variant Server AMIGO2_000021 3544/13006 2788/8600 756/4406
?/? c.1356T>C r.(=) p.(=) g.47471430A>G Copied from the Exome Variant Server AMIGO2_000019 1/13006 0/8600 1/4406
?/? c.1380A>G r.(=) p.(=) g.47471406T>C Copied from the Exome Variant Server AMIGO2_000017 3/13006 2/8600 1/4406
?/? c.1393A>C r.(=) p.(=) g.47471393T>G Copied from the Exome Variant Server AMIGO2_000015 340/13006 301/8600 39/4406
?/? c.1424C>T r.(?) p.(Thr475Ile) g.47471362G>A Copied from the Exome Variant Server AMIGO2_000014 1/13006 1/8600 0/4406
?/? c.1429G>A r.(?) p.(Ala477Thr) g.47471357C>T Copied from the Exome Variant Server AMIGO2_000013 3/13006 0/8600 3/4406
?/? c.1452G>A r.(=) p.(=) g.47471334C>T Copied from the Exome Variant Server AMIGO2_000012 1/13006 0/8600 1/4406
?/? c.1474A>G r.(?) p.(Ile492Val) g.47471312T>C Copied from the Exome Variant Server AMIGO2_000011 1/13006 1/8600 0/4406
?/? c.1482G>A r.(=) p.(=) g.47471304C>T Copied from the Exome Variant Server AMIGO2_000010 266/13006 8/8600 258/4406
?/? c.1488C>G r.(?) p.(Ile496Met) g.47471298G>C Copied from the Exome Variant Server AMIGO2_000009 1/13006 0/8600 1/4406
?/? c.1509A>G r.(=) p.(=) g.47471277T>C Copied from the Exome Variant Server AMIGO2_000008 1/13006 0/8600 1/4406
?/? c.1516T>C r.(?) p.(Ser506Pro) g.47471270A>G Copied from the Exome Variant Server AMIGO2_000007 1/13006 0/8600 1/4406
?/? c.1559C>T r.(?) p.(Ala520Val) g.47471227G>A Copied from the Exome Variant Server AMIGO2_000006 2/13006 0/8600 2/4406
?/? c.*12A>T r.(=) p.(=) g.47471205T>A Copied from the Exome Variant Server AMIGO2_000005 1/13006 0/8600 1/4406
?/? c.*16G>C r.(=) p.(=) g.47471201C>G Copied from the Exome Variant Server AMIGO2_000004 1/13006 1/8600 0/4406
?/? c.*27T>G r.(=) p.(=) g.47471190A>C Copied from the Exome Variant Server AMIGO2_000003 1/13006 0/8600 1/4406
?/? c.*31_*35del r.(=) p.(=) g.47471182_47471186del Copied from the Exome Variant Server AMIGO2_000002 12/12516 6/8254 6/4262
?/? c.*42A>C r.(=) p.(=) g.47471175T>G Copied from the Exome Variant Server AMIGO2_000001 1/13004 0/8600 1/4404
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