All transcript variants in gene AQP1

Information The variants shown are described using the NM_001185060.1 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.136-28C>T r.(=) p.(=) g.30961653C>T Copied from the Exome Variant Server AQP1_000001 1/13006 1/8600 0/4406
?/? c.156G>A r.(=) p.(=) g.30961701G>A Copied from the Exome Variant Server AQP1_000002 24/13006 2/8600 22/4406
?/? c.183C>T r.(=) p.(=) g.30961728C>T Copied from the Exome Variant Server AQP1_000003 1/13006 1/8600 0/4406
?/? c.207C>T r.(=) p.(=) g.30961752C>T Copied from the Exome Variant Server AQP1_000004 7/13006 0/8600 7/4406
?/? c.222C>T r.(=) p.(=) g.30961767C>T Copied from the Exome Variant Server AQP1_000005 2/13006 2/8600 0/4406
?/? c.232C>T r.(?) p.(Arg78Cys) g.30961777C>T Copied from the Exome Variant Server AQP1_000006 3/13006 3/8600 0/4406
?/? c.245G>A r.(?) p.(Gly82Asp) g.30961790G>A Copied from the Exome Variant Server AQP1_000007 404/13006 362/8600 42/4406
?/? c.255C>G r.(=) p.(=) g.30961800C>G Copied from the Exome Variant Server AQP1_000008 1/13006 1/8600 0/4406
?/? c.267C>T r.(=) p.(=) g.30961812C>T Copied from the Exome Variant Server AQP1_000009 1/13006 1/8600 0/4406
?/? c.274T>C r.(?) p.(Ser92Pro) g.30961819T>C Copied from the Exome Variant Server AQP1_000010 1/13006 0/8600 1/4406
?/? c.300+12G>A r.(=) p.(=) g.30961857G>A Copied from the Exome Variant Server AQP1_000011 23/13002 0/8600 23/4402
?/? c.300+13C>T r.(=) p.(=) g.30961858C>T Copied from the Exome Variant Server AQP1_000012 3/12998 0/8596 3/4402
?/? c.300+44C>T r.(=) p.(=) g.30961889C>T Copied from the Exome Variant Server AQP1_000013 15/12520 0/8286 15/4234
?/? c.301-53C>G r.(=) p.(=) g.30962126C>G Copied from the Exome Variant Server AQP1_000014 35/4566 3/3182 32/1384
?/? c.301-42A>G r.(=) p.(=) g.30962137A>G Copied from the Exome Variant Server AQP1_000015 111/13006 4/8600 107/4406
?/? c.301-30C>T r.(=) p.(=) g.30962149C>T Copied from the Exome Variant Server AQP1_000016 13/13006 0/8600 13/4406
?/? c.301-21_301-18del r.(=) p.(=) g.30962158_30962161del Copied from the Exome Variant Server AQP1_000017 109/12518 0/8254 109/4264
?/? c.321G>T r.(=) p.(=) g.30962199G>T Copied from the Exome Variant Server AQP1_000018 2/13006 2/8600 0/4406
?/? c.333T>A r.(=) p.(=) g.30962211T>A Copied from the Exome Variant Server AQP1_000019 3/13006 3/8600 0/4406
?/? c.351del r.(?) p.(Val118*) g.30962229del Copied from the Exome Variant Server AQP1_000020 1/12494 0/8238 1/4256
?/? c.351G>A r.(=) p.(=) g.30962229G>A Copied from the Exome Variant Server AQP1_000021 2/13006 0/8600 2/4406
?/? c.353T>C r.(?) p.(Val118Ala) g.30962231T>C Copied from the Exome Variant Server AQP1_000022 1/13006 0/8600 1/4406
?/? c.381+11C>T r.(=) p.(=) g.30962270C>T Copied from the Exome Variant Server AQP1_000023 1/13006 0/8600 1/4406
?/? c.381+14del r.(=) p.(=) g.30962273del Copied from the Exome Variant Server AQP1_000024 30/12492 1/8238 29/4254
?/? c.381+14G>A r.(=) p.(=) g.30962273G>A Copied from the Exome Variant Server AQP1_000025 2/13006 2/8600 0/4406
?/? c.381+18G>A r.(=) p.(=) g.30962277G>A Copied from the Exome Variant Server AQP1_000026 3/13006 2/8600 1/4406
?/? c.381+38T>C r.(=) p.(=) g.30962297T>C Copied from the Exome Variant Server AQP1_000027 1/13006 1/8600 0/4406
?/? c.382-26T>A r.(=) p.(=) g.30963039T>A Copied from the Exome Variant Server AQP1_000028 1/12992 1/8592 0/4400
?/? c.382-18C>T r.(=) p.(=) g.30963047C>T Copied from the Exome Variant Server AQP1_000029 2/12996 1/8592 1/4404
?/? c.382-11T>A r.(=) p.(=) g.30963054T>A Copied from the Exome Variant Server AQP1_000030 96/13000 0/8594 96/4406
?/? c.405C>T r.(=) p.(=) g.30963088C>T Copied from the Exome Variant Server AQP1_000032 1/13006 1/8600 0/4406
?/? c.432C>T r.(=) p.(=) g.30963115C>T Copied from the Exome Variant Server AQP1_000034 1/13006 1/8600 0/4406
?/? c.452G>A r.(?) p.(Arg151His) g.30963135G>A Copied from the Exome Variant Server AQP1_000035 1/13006 0/8600 1/4406
?/? c.493G>A r.(?) p.(Gly165Ser) g.30963176G>A Copied from the Exome Variant Server AQP1_000037 1/13006 1/8600 0/4406
?/? c.509A>G r.(?) p.(Tyr170Cys) g.30963192A>G Copied from the Exome Variant Server AQP1_000039 4/13006 3/8600 1/4406
?/? c.*45C>T r.(=) p.(=) g.30963289C>T Copied from the Exome Variant Server AQP1_000031 148/12706 7/8440 141/4266
?/? c.*52_*53insGGGAG r.(=) p.(=) g.30963296_30963297insGGGAG Copied from the Exome Variant Server AQP1_000033 940/9896 217/6908 723/2988
?/? c.*220A>G r.(=) p.(=) g.30963464A>G Copied from the Exome Variant Server AQP1_000036 6/5732 0/3980 6/1752
?/? c.*282C>T r.(=) p.(=) g.30963526C>T Copied from the Exome Variant Server AQP1_000038 1/5734 1/3982 0/1752
?/? c.*362G>A r.(=) p.(=) g.30963606G>A Copied from the Exome Variant Server AQP1_000040 16/5732 0/3982 16/1750
?/? c.*396G>C r.(=) p.(=) g.30963640G>C Copied from the Exome Variant Server AQP1_000041 1/5734 1/3982 0/1752
?/? c.*401C>T r.(=) p.(=) g.30963645C>T Copied from the Exome Variant Server AQP1_000042 29/5734 29/3982 0/1752
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