All transcript variants in gene AQP6

Information The variants shown are described using the NM_001652.3 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-31G>A r.(=) p.(=) g.50366926G>A Copied from the Exome Variant Server AQP6_000008 1/13006 1/8600 0/4406
?/? c.-17G>A r.(=) p.(=) g.50366940G>A Copied from the Exome Variant Server AQP6_000001 4/13006 3/8600 1/4406
?/? c.-1C>T r.(=) p.(=) g.50366956C>T Copied from the Exome Variant Server AQP6_000002 1/13006 1/8600 0/4406
?/? c.2T>C r.? p.? g.50366958T>C Copied from the Exome Variant Server AQP6_000003 2/13006 2/8600 0/4406
?/? c.7G>T r.(?) p.(Ala3Ser) g.50366963G>T Copied from the Exome Variant Server AQP6_000004 26/13006 0/8600 26/4406
?/? c.28G>A r.(?) p.(Gly10Ser) g.50366984G>A Copied from the Exome Variant Server AQP6_000005 1/13006 0/8600 1/4406
?/? c.41T>G r.(?) p.(Met14Arg) g.50366997T>G Copied from the Exome Variant Server AQP6_000006 3/13006 2/8600 1/4406
?/? c.48G>A r.(=) p.(=) g.50367004G>A Copied from the Exome Variant Server AQP6_000007 104/13006 0/8600 104/4406
?/? c.57T>C r.(=) p.(=) g.50367013T>C Copied from the Exome Variant Server AQP6_000009 399/13006 1/8600 398/4406
?/? c.71G>T r.(?) p.(Ser24Ile) g.50367027G>T Copied from the Exome Variant Server AQP6_000010 24/13006 0/8600 24/4406
?/? c.94C>T r.(=) p.(=) g.50367050C>T Copied from the Exome Variant Server AQP6_000011 1/13006 0/8600 1/4406
?/? c.102G>A r.(=) p.(=) g.50367058G>A Copied from the Exome Variant Server AQP6_000012 2/13006 0/8600 2/4406
?/? c.123C>T r.(=) p.(=) g.50367079C>T Copied from the Exome Variant Server AQP6_000013 1/13006 0/8600 1/4406
?/? c.124G>T r.(?) p.(Val42Leu) g.50367080G>T Copied from the Exome Variant Server AQP6_000014 1/13006 1/8600 0/4406
?/? c.137T>C r.(?) p.(Met46Thr) g.50367093T>C Copied from the Exome Variant Server AQP6_000015 1/13006 1/8600 0/4406
?/? c.140G>A r.(?) p.(Arg47His) g.50367096G>A Copied from the Exome Variant Server AQP6_000016 5/13006 0/8600 5/4406
?/? c.163G>A r.(?) p.(Val55Met) g.50367119G>A Copied from the Exome Variant Server AQP6_000017 1/13006 1/8600 0/4406
?/? c.168A>G r.(=) p.(=) g.50367124A>G Copied from the Exome Variant Server AQP6_000018 3/13006 0/8600 3/4406
?/? c.177C>T r.(=) p.(=) g.50367133C>T Copied from the Exome Variant Server AQP6_000019 1/13006 0/8600 1/4406
?/? c.189C>T r.(=) p.(=) g.50367145C>T Copied from the Exome Variant Server AQP6_000020 1/13006 0/8600 1/4406
?/? c.240C>T r.(=) p.(=) g.50367196C>T Copied from the Exome Variant Server AQP6_000021 1/13004 0/8598 1/4406
?/? c.249C>T r.(=) p.(=) g.50367205C>T Copied from the Exome Variant Server AQP6_000022 1/13006 1/8600 0/4406
?/? c.250G>A r.(?) p.(Ala84Thr) g.50367206G>A Copied from the Exome Variant Server AQP6_000023 1/13002 1/8598 0/4404
?/? c.252C>T r.(=) p.(=) g.50367208C>T Copied from the Exome Variant Server AQP6_000024 1/13000 0/8596 1/4404
?/? c.255G>A r.(=) p.(=) g.50367211G>A Copied from the Exome Variant Server AQP6_000025 13/13002 13/8598 0/4404
?/? c.257C>T r.(?) p.(Thr86Met) g.50367213C>T Copied from the Exome Variant Server AQP6_000026 1/13002 1/8598 0/4404
?/? c.270C>T r.(=) p.(=) g.50367226C>T Copied from the Exome Variant Server AQP6_000027 2/13004 2/8598 0/4406
?/? c.329G>A r.(?) p.(Gly110Glu) g.50367285G>A Copied from the Exome Variant Server AQP6_000028 1/13000 1/8598 0/4402
?/? c.379C>G r.(?) p.(Arg127Gly) g.50367335C>G Copied from the Exome Variant Server AQP6_000029 40/12996 38/8594 2/4402
?/? c.399C>T r.(=) p.(=) g.50367355C>T Copied from the Exome Variant Server AQP6_000030 1/12994 1/8594 0/4400
?/? c.400G>A r.(?) p.(Val134Met) g.50367356G>A Copied from the Exome Variant Server AQP6_000031 1/12992 1/8592 0/4400
?/? c.402+37C>T r.(=) p.(=) g.50367395C>T Copied from the Exome Variant Server AQP6_000032 3/12906 0/8542 3/4364
?/? c.402+42A>G r.(=) p.(=) g.50367400A>G Copied from the Exome Variant Server AQP6_000033 3/12886 0/8526 3/4360
?/? c.403-46C>T r.(=) p.(=) g.50368061C>T Copied from the Exome Variant Server AQP6_000034 1/13006 1/8600 0/4406
?/? c.403-31C>T r.(=) p.(=) g.50368076C>T Copied from the Exome Variant Server AQP6_000035 3/13006 3/8600 0/4406
?/? c.403-30G>A r.(=) p.(=) g.50368077G>A Copied from the Exome Variant Server AQP6_000036 3/13006 3/8600 0/4406
?/? c.406C>T r.(?) p.(Arg136Trp) g.50368110C>T Copied from the Exome Variant Server AQP6_000037 1/13006 1/8600 0/4406
?/? c.408G>A r.(=) p.(=) g.50368112G>A Copied from the Exome Variant Server AQP6_000038 1/13006 1/8600 0/4406
?/? c.431C>T r.(?) p.(Ala144Val) g.50368135C>T Copied from the Exome Variant Server AQP6_000039 2/13006 1/8600 1/4406
?/? c.489C>T r.(=) p.(=) g.50368193C>T Copied from the Exome Variant Server AQP6_000040 1/13006 1/8600 0/4406
?/? c.496C>G r.(?) p.(Arg166Gly) g.50368200C>G Copied from the Exome Variant Server AQP6_000041 207/13006 0/8600 207/4406
?/? c.534C>T r.(=) p.(=) g.50368238C>T Copied from the Exome Variant Server AQP6_000042 1/13006 1/8600 0/4406
?/? c.561+5G>A r.spl? p.? g.50368270G>A Copied from the Exome Variant Server AQP6_000043 103/13006 0/8600 103/4406
?/? c.561+6G>A r.(=) p.(=) g.50368271G>A Copied from the Exome Variant Server AQP6_000045 2/13006 0/8600 2/4406
?/? c.561+32A>T r.(=) p.(=) g.50368297A>T Copied from the Exome Variant Server AQP6_000048 3/13006 3/8600 0/4406
?/? c.561+39G>A r.(=) p.(=) g.50368304G>A Copied from the Exome Variant Server AQP6_000049 2/13006 2/8600 0/4406
?/? c.561+45G>A r.(=) p.(=) g.50368310G>A Copied from the Exome Variant Server AQP6_000051 34/13006 1/8600 33/4406
?/? c.562-57C>G r.(=) p.(=) g.50368472C>G Copied from the Exome Variant Server AQP6_000053 1/4566 1/3182 0/1384
?/? c.577_578insG r.(?) p.(Cys193Trpfs*122) g.50368544_50368545insG Copied from the Exome Variant Server AQP6_000055 85/12518 69/8254 16/4264
?/? c.603C>T r.(=) p.(=) g.50368570C>T Copied from the Exome Variant Server AQP6_000057 3/13006 0/8600 3/4406
?/? c.630_631del r.(?) p.(Thr211Serfs*103) g.50368597_50368598del Copied from the Exome Variant Server AQP6_000060 1/12518 1/8254 0/4264
?/? c.642+13G>A r.(=) p.(=) g.50368622G>A Copied from the Exome Variant Server AQP6_000044 35/13006 0/8600 35/4406
?/? c.643-25G>A r.(=) p.(=) g.50369223G>A Copied from the Exome Variant Server AQP6_000046 1/13006 0/8600 1/4406
?/? c.643-18C>T r.(=) p.(=) g.50369230C>T Copied from the Exome Variant Server AQP6_000047 1/13006 0/8600 1/4406
?/? c.699C>T r.(=) p.(=) g.50369304C>T Copied from the Exome Variant Server AQP6_000050 1/13006 1/8600 0/4406
?/? c.700G>A r.(?) p.(Val234Ile) g.50369305G>A Copied from the Exome Variant Server AQP6_000052 350/13006 128/8600 222/4406
?/? c.728C>T r.(?) p.(Ala243Val) g.50369333C>T Copied from the Exome Variant Server AQP6_000054 1/13006 1/8600 0/4406
?/? c.729G>A r.(=) p.(=) g.50369334G>A Copied from the Exome Variant Server AQP6_000056 1/13006 0/8600 1/4406
?/? c.733C>T r.(?) p.(Arg245Trp) g.50369338C>T Copied from the Exome Variant Server AQP6_000058 2/13006 1/8600 1/4406
?/? c.762G>A r.(=) p.(=) g.50369367G>A Copied from the Exome Variant Server AQP6_000059 2/13006 2/8600 0/4406
?/? c.789G>A r.(=) p.(=) g.50369394G>A Copied from the Exome Variant Server AQP6_000061 4/13006 3/8600 1/4406
?/? c.815C>T r.(?) p.(Pro272Leu) g.50369420C>T Copied from the Exome Variant Server AQP6_000062 2/13000 1/8596 1/4404
?/? c.822G>A r.(=) p.(=) g.50369427G>A Copied from the Exome Variant Server AQP6_000063 2/12998 1/8596 1/4402
?/? c.*10C>G r.(=) p.(=) g.50369464C>G Copied from the Exome Variant Server AQP6_000064 1/12956 0/8568 1/4388
?/? c.*19G>A r.(=) p.(=) g.50369473G>A Copied from the Exome Variant Server AQP6_000065 1/12892 1/8528 0/4364
?/? c.*22C>T r.(=) p.(=) g.50369476C>T Copied from the Exome Variant Server AQP6_000066 5/12890 0/8526 5/4364
?/? c.*29G>T r.(=) p.(=) g.50369483G>T Copied from the Exome Variant Server AQP6_000067 2/12856 0/8510 2/4346
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