All transcript variants in gene AIDA

Information The variants shown are described using the NM_022831.2 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-2C>T r.(=) p.(=) g.222885661G>A Copied from the Exome Variant Server AIDA_000045 2/12584 1/8294 1/4290
?/? c.56G>A r.(?) p.(Gly19Asp) g.222885604C>T Copied from the Exome Variant Server AIDA_000044 1/12986 1/8586 0/4400
?/? c.111-57del r.(=) p.(=) g.222876616del Copied from the Exome Variant Server AIDA_000043 67/12492 58/8236 9/4256
?/? c.111-29A>G r.(=) p.(=) g.222876588T>C Copied from the Exome Variant Server AIDA_000042 3/12996 0/8594 3/4402
?/? c.111-18T>C r.(=) p.(=) g.222876577A>G Copied from the Exome Variant Server AIDA_000041 1/13000 0/8598 1/4402
?/? c.142G>C r.(?) p.(Ala48Pro) g.222876528C>G Copied from the Exome Variant Server AIDA_000039 1/12998 1/8596 0/4402
?/? c.180+20A>G r.(=) p.(=) g.222876470T>C Copied from the Exome Variant Server AIDA_000037 1/12998 0/8594 1/4404
?/? c.180+21G>A r.(=) p.(=) g.222876469C>T Copied from the Exome Variant Server AIDA_000035 3/12998 0/8594 3/4404
?/? c.180+30G>T r.(=) p.(=) g.222876460C>A Copied from the Exome Variant Server AIDA_000033 1/12994 1/8590 0/4404
?/? c.181-41T>C r.(=) p.(=) g.222867646A>G Copied from the Exome Variant Server AIDA_000031 1/12996 0/8594 1/4402
?/? c.181-12_181-11insA r.(=) p.(=) g.222867616_222867617insT Copied from the Exome Variant Server AIDA_000029 1/12516 0/8250 1/4266
?/? c.234+1G>A r.spl? p.? g.222867551C>T Copied from the Exome Variant Server AIDA_000040 1/13002 1/8596 0/4406
?/? c.234+41T>G r.(=) p.(=) g.222867511A>C Copied from the Exome Variant Server AIDA_000038 1/12998 0/8592 1/4406
?/? c.234+45C>G r.(=) p.(=) g.222867507G>C Copied from the Exome Variant Server AIDA_000036 1/12998 1/8592 0/4406
?/? c.235-51G>A r.(=) p.(=) g.222867236C>T Copied from the Exome Variant Server AIDA_000034 24/12994 0/8588 24/4406
?/? c.290-21T>G r.(=) p.(=) g.222861021A>C Copied from the Exome Variant Server AIDA_000032 1/12388 1/8238 0/4150
?/? c.353+16A>G r.(=) p.(=) g.222860921T>C Copied from the Exome Variant Server AIDA_000030 13/12326 10/8200 3/4126
?/? c.353+36T>C r.(=) p.(=) g.222860901A>G Copied from the Exome Variant Server AIDA_000028 1/12108 1/8090 0/4018
?/? c.354-15C>T r.(=) p.(=) g.222860393G>A Copied from the Exome Variant Server AIDA_000027 1/12998 0/8592 1/4406
?/? c.354-10T>C r.(=) p.(=) g.222860388A>G Copied from the Exome Variant Server AIDA_000026 2/13000 0/8594 2/4406
?/? c.371G>A r.(?) p.(Gly124Asp) g.222860361C>T Copied from the Exome Variant Server AIDA_000025 1/13004 1/8600 0/4404
?/? c.405A>G r.(=) p.(=) g.222860327T>C Copied from the Exome Variant Server AIDA_000024 3/12998 2/8594 1/4404
?/? c.433C>T r.(?) p.(Pro145Ser) g.222860299G>A Copied from the Exome Variant Server AIDA_000023 1/13006 1/8600 0/4406
?/? c.460+27A>C r.(=) p.(=) g.222860245T>G Copied from the Exome Variant Server AIDA_000022 1/12986 0/8594 1/4392
?/? c.461-46A>G r.(=) p.(=) g.222849606T>C Copied from the Exome Variant Server AIDA_000021 1/13006 1/8600 0/4406
?/? c.461-35A>T r.(=) p.(=) g.222849595T>A Copied from the Exome Variant Server AIDA_000020 1/13006 1/8600 0/4406
?/? c.461-34T>C r.(=) p.(=) g.222849594A>G Copied from the Exome Variant Server AIDA_000019 4/13006 2/8600 2/4406
?/? c.483A>G r.(=) p.(=) g.222849538T>C Copied from the Exome Variant Server AIDA_000018 1/13006 0/8600 1/4406
?/? c.485C>T r.(?) p.(Ser162Leu) g.222849536G>A Copied from the Exome Variant Server AIDA_000017 2/13006 2/8600 0/4406
?/? c.575G>C r.(?) p.(Ser192Thr) g.222849446C>G Copied from the Exome Variant Server AIDA_000016 1/13006 1/8600 0/4406
?/? c.583+27del r.(=) p.(=) g.222849411del Copied from the Exome Variant Server AIDA_000014 15/12520 11/8254 4/4266
?/? c.583+27dup r.(=) p.(=) g.222849411dup Copied from the Exome Variant Server AIDA_000013 4/12520 3/8254 1/4266
?/? c.583+27T>C r.(=) p.(=) g.222849411A>G Copied from the Exome Variant Server AIDA_000015 2/13006 1/8600 1/4406
?/? c.597A>C r.(=) p.(=) g.222846764T>G Copied from the Exome Variant Server AIDA_000012 1/13004 1/8598 0/4406
?/? c.678C>T r.(=) p.(=) g.222846683G>A Copied from the Exome Variant Server AIDA_000011 195/13006 1/8600 194/4406
?/? c.706+5G>A r.spl? p.? g.222846650C>T Copied from the Exome Variant Server AIDA_000010 1/13000 0/8594 1/4406
?/? c.706+15A>G r.(=) p.(=) g.222846640T>C Copied from the Exome Variant Server AIDA_000009 13/12998 0/8592 13/4406
?/? c.706+33T>C r.(=) p.(=) g.222846622A>G Copied from the Exome Variant Server AIDA_000008 1/13000 0/8596 1/4404
?/? c.726A>G r.(=) p.(=) g.222843573T>C Copied from the Exome Variant Server AIDA_000007 1/13006 1/8600 0/4406
?/? c.824+8A>T r.(=) p.(=) g.222843467T>A Copied from the Exome Variant Server AIDA_000006 1/13006 1/8600 0/4406
?/? c.824+14del r.(=) p.(=) g.222843461del Copied from the Exome Variant Server AIDA_000005 49/12520 44/8254 5/4266
?/? c.825-40C>T r.(=) p.(=) g.222843371G>A Copied from the Exome Variant Server AIDA_000004 24/13000 0/8594 24/4406
?/? c.825-3_825-2del r.spl? p.? g.222843333_222843334del Copied from the Exome Variant Server AIDA_000003 1/12518 0/8252 1/4266
?/? c.831G>A r.(=) p.(=) g.222843325C>T Copied from the Exome Variant Server AIDA_000002 1/13004 1/8598 0/4406
?/? c.846T>C r.(=) p.(=) g.222843310A>G Copied from the Exome Variant Server AIDA_000001 1/13004 1/8598 0/4406
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