All transcript variants in gene GLRA2

Information The variants shown are described using the NM_001118885.1 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.71C>T r.(?) p.(Thr24Met) g.14550363C>T Copied from the Exome Variant Server GLRA2_000001 2/10563 1/6728 1/3835
?/? c.82A>G r.(?) p.(Lys28Glu) g.14550374A>G Copied from the Exome Variant Server GLRA2_000002 1/10563 1/6728 0/3835
?/? c.92A>T r.(?) p.(Asp31Val) g.14550384A>T Copied from the Exome Variant Server GLRA2_000003 1/10563 0/6728 1/3835
?/? c.202+22G>A r.(=) p.(=) g.14550516G>A Copied from the Exome Variant Server GLRA2_000004 3/10562 3/6727 0/3835
?/? c.202+40C>T r.(=) p.(=) g.14550534C>T Copied from the Exome Variant Server GLRA2_000005 6/10558 0/6723 6/3835
?/? c.203-49T>C r.(=) p.(=) g.14592406T>C Copied from the Exome Variant Server GLRA2_000006 1/10563 1/6728 0/3835
?/? c.203-40G>C r.(=) p.(=) g.14592415G>C Copied from the Exome Variant Server GLRA2_000007 2/10563 2/6728 0/3835
?/? c.217G>A r.(?) p.(Val73Ile) g.14592469G>A Copied from the Exome Variant Server GLRA2_000008 1/10563 1/6728 0/3835
?/? c.270+83A>G r.(=) p.(=) g.14592605A>G Copied from the Exome Variant Server GLRA2_000009 1/8125 1/5498 0/2627
?/? c.270+85C>T r.(=) p.(=) g.14592607C>T Copied from the Exome Variant Server GLRA2_000010 1/8125 1/5498 0/2627
?/? c.270+187C>T r.(=) p.(=) g.14592709C>T Copied from the Exome Variant Server GLRA2_000011 5/8125 1/5498 4/2627
?/? c.270+188G>A r.(=) p.(=) g.14592710G>A Copied from the Exome Variant Server GLRA2_000012 2/8125 2/5498 0/2627
?/? c.271-43G>A r.(=) p.(=) g.14599262G>A Copied from the Exome Variant Server GLRA2_000013 1/10563 1/6728 0/3835
?/? c.271-14C>T r.(=) p.(=) g.14599291C>T Copied from the Exome Variant Server GLRA2_000014 1/10563 0/6728 1/3835
?/? c.271-7T>G r.(=) p.(=) g.14599298T>G Copied from the Exome Variant Server GLRA2_000015 1/10563 1/6728 0/3835
?/? c.429C>T r.(=) p.(=) g.14599463C>T Copied from the Exome Variant Server GLRA2_000016 6/10563 2/6728 4/3835
?/? c.465G>A r.(=) p.(=) g.14599499G>A Copied from the Exome Variant Server GLRA2_000017 1/10563 0/6728 1/3835
?/? c.494+43C>T r.(=) p.(=) g.14599571C>T Copied from the Exome Variant Server GLRA2_000018 2/10563 2/6728 0/3835
?/? c.494+44A>G r.(=) p.(=) g.14599572A>G Copied from the Exome Variant Server GLRA2_000019 6919/10562 3938/6727 2981/3835
?/? c.495-20del r.(=) p.(=) g.14622417del Copied from the Exome Variant Server GLRA2_000020 77/10199 57/6478 20/3721
?/? c.507C>T r.(=) p.(=) g.14622449C>T Copied from the Exome Variant Server GLRA2_000021 205/10560 193/6725 12/3835
?/? c.577+33T>G r.(=) p.(=) g.14622552T>G Copied from the Exome Variant Server GLRA2_000022 1/10563 0/6728 1/3835
?/? c.697A>G r.(?) p.(Thr233Ala) g.14625372A>G Copied from the Exome Variant Server GLRA2_000023 1/10563 0/6728 1/3835
?/? c.716-27C>T r.(=) p.(=) g.14627086C>T Copied from the Exome Variant Server GLRA2_000024 1/10563 1/6728 0/3835
?/? c.736G>A r.(?) p.(Val246Ile) g.14627133G>A Copied from the Exome Variant Server GLRA2_000025 1/10563 1/6728 0/3835
?/? c.747T>C r.(=) p.(=) g.14627144T>C Copied from the Exome Variant Server GLRA2_000026 3125/10563 2050/6728 1075/3835
?/? c.888G>A r.(=) p.(=) g.14627285G>A Copied from the Exome Variant Server GLRA2_000027 1/10563 1/6728 0/3835
?/? c.930+48T>C r.(=) p.(=) g.14627375T>C Copied from the Exome Variant Server GLRA2_000028 2/10556 2/6726 0/3830
?/? c.931-50_931-49del r.(=) p.(=) g.14708782_14708783del Copied from the Exome Variant Server GLRA2_000029 2815/10205 1867/6484 948/3721
?/? c.931-50_931-49dup r.(=) p.(=) g.14708782_14708783dup Copied from the Exome Variant Server GLRA2_000030 172/10205 24/6484 148/3721
?/? c.931-47C>T r.(=) p.(=) g.14708785C>T Copied from the Exome Variant Server GLRA2_000031 1/10563 1/6728 0/3835
?/? c.931-19G>C r.(=) p.(=) g.14708813G>C Copied from the Exome Variant Server GLRA2_000032 302/10563 4/6728 298/3835
?/? c.931-17C>G r.(=) p.(=) g.14708815C>G Copied from the Exome Variant Server GLRA2_000033 2/10563 0/6728 2/3835
?/? c.966G>A r.(=) p.(=) g.14708867G>A Copied from the Exome Variant Server GLRA2_000034 1/10563 1/6728 0/3835
?/? c.1005C>T r.(=) p.(=) g.14708906C>T Copied from the Exome Variant Server GLRA2_000035 1/10563 1/6728 0/3835
?/? c.1011G>A r.(=) p.(=) g.14708912G>A Copied from the Exome Variant Server GLRA2_000036 8/10563 5/6728 3/3835
?/? c.1064A>G r.(?) p.(Gln355Arg) g.14708965A>G Copied from the Exome Variant Server GLRA2_000037 1/10563 0/6728 1/3835
?/? c.1080+28G>A r.(=) p.(=) g.14709009G>A Copied from the Exome Variant Server GLRA2_000038 18/10563 16/6728 2/3835
?/? c.1080+30A>G r.(=) p.(=) g.14709011A>G Copied from the Exome Variant Server GLRA2_000039 1/10563 1/6728 0/3835
?/? c.1081-5G>A r.spl? p.? g.14748324G>A Copied from the Exome Variant Server GLRA2_000040 2/10563 0/6728 2/3835
?/? c.1089C>T r.(=) p.(=) g.14748337C>T Copied from the Exome Variant Server GLRA2_000041 217/10563 2/6728 215/3835
?/? c.1128G>A r.(=) p.(=) g.14748376G>A Copied from the Exome Variant Server GLRA2_000042 2/10563 2/6728 0/3835
?/? c.1172C>T r.(?) p.(Ala391Val) g.14748420C>T Copied from the Exome Variant Server GLRA2_000043 14/10563 0/6728 14/3835
?/? c.1186C>A r.(?) p.(Pro396Thr) g.14748434C>A Copied from the Exome Variant Server GLRA2_000044 1/10563 1/6728 0/3835
?/? c.1193C>T r.(?) p.(Pro398Leu) g.14748441C>T Copied from the Exome Variant Server GLRA2_000045 3/10563 0/6728 3/3835
?/? c.1199C>T r.(?) p.(Pro400Leu) g.14748447C>T Copied from the Exome Variant Server GLRA2_000046 1/10563 1/6728 0/3835
?/? c.1242G>A r.(=) p.(=) g.14748490G>A Copied from the Exome Variant Server GLRA2_000047 1/10563 0/6728 1/3835
?/? c.1259C>T r.(?) p.(Thr420Met) g.14748507C>T Copied from the Exome Variant Server GLRA2_000048 1/10563 0/6728 1/3835
?/? c.1261A>G r.(?) p.(Ile421Val) g.14748509A>G Copied from the Exome Variant Server GLRA2_000049 2/10563 2/6728 0/3835
?/? c.*23C>T r.(=) p.(=) g.14748630C>T Copied from the Exome Variant Server GLRA2_000050 1/10563 0/6728 1/3835
?/? c.*25T>G r.(=) p.(=) g.14748632T>G Copied from the Exome Variant Server GLRA2_000051 5/10563 0/6728 5/3835
?/? c.*44C>T r.(=) p.(=) g.14748651C>T Copied from the Exome Variant Server GLRA2_000052 1/10563 1/6728 0/3835
?/? c.*46T>C r.(=) p.(=) g.14748653T>C Copied from the Exome Variant Server GLRA2_000053 3/10563 0/6728 3/3835
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