Full data view for gene AQP3

Information The variants shown are described using the NM_004925.4 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-51A>G r.(=) p.(=) g.33447579T>C Copied from the Exome Variant Server AQP3_000050 2313/11458 1370/7580 943/3878 - - - - - - -
?/? c.-25C>T r.(=) p.(=) g.33447553G>A Copied from the Exome Variant Server AQP3_000049 81/12664 72/8370 9/4294 - - - - - - -
?/? c.-19C>A r.(=) p.(=) g.33447547G>T Copied from the Exome Variant Server AQP3_000048 472/12770 410/8458 62/4312 - - - - - - -
?/? c.39G>C r.(?) p.(Glu13Asp) g.33447490C>G Copied from the Exome Variant Server AQP3_000047 1/12988 1/8594 0/4394 - - - - - - -
?/? c.64_71del r.(?) p.(Leu22Glyfs*72) g.33447458_33447465del Copied from the Exome Variant Server AQP3_000046 10/12442 4/8218 6/4224 - - - - - - -
?/? c.105G>C r.(=) p.(=) g.33447424C>G Copied from the Exome Variant Server AQP3_000045 9635/12978 6151/8596 3484/4382 - - - - - - -
?/? c.108+43T>C r.(=) p.(=) g.33447378A>G Copied from the Exome Variant Server AQP3_000044 73/12850 65/8520 8/4330 - - - - - - -
?/? c.109-49G>A r.(=) p.(=) g.33443939C>T Copied from the Exome Variant Server AQP3_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.109-10_109-8del r.(=) p.(=) g.33443898_33443900del Copied from the Exome Variant Server AQP3_000042 3/12518 2/8254 1/4264 - - - - - - -
?/? c.126C>T r.(=) p.(=) g.33443873G>A Copied from the Exome Variant Server AQP3_000041 16/13006 0/8600 16/4406 - - - - - - -
?/? c.127G>A r.(?) p.(Val43Met) g.33443872C>T Copied from the Exome Variant Server AQP3_000040 2/13006 1/8600 1/4406 - - - - - - -
?/? c.132C>T r.(=) p.(=) g.33443867G>A Copied from the Exome Variant Server AQP3_000039 60/13006 55/8600 5/4406 - - - - - - -
?/? c.167T>A r.(?) p.(Phe56Tyr) g.33443832A>T Copied from the Exome Variant Server AQP3_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.235+10T>C r.(=) p.(=) g.33443754A>G Copied from the Exome Variant Server AQP3_000037 3/13006 3/8600 0/4406 - - - - - - -
?/? c.235+12del r.(=) p.(=) g.33443752del Copied from the Exome Variant Server AQP3_000036 31/12518 20/8254 11/4264 - - - - - - -
?/? c.235+27_235+28insCC r.(=) p.(=) g.33443736_33443737insGG Copied from the Exome Variant Server AQP3_000035 6/12518 0/8254 6/4264 - - - - - - -
?/? c.235+38A>G r.(=) p.(=) g.33443726T>C Copied from the Exome Variant Server AQP3_000034 3/13006 0/8600 3/4406 - - - - - - -
?/? c.236-48C>T r.(=) p.(=) g.33443504G>A Copied from the Exome Variant Server AQP3_000033 1/12992 1/8596 0/4396 - - - - - - -
?/? c.236-43G>T r.(=) p.(=) g.33443499C>A Copied from the Exome Variant Server AQP3_000032 1/12992 1/8596 0/4396 - - - - - - -
?/? c.255C>T r.(=) p.(=) g.33443437G>A Copied from the Exome Variant Server AQP3_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.373+28C>T r.(=) p.(=) g.33443291G>A Copied from the Exome Variant Server AQP3_000030 1/12976 1/8582 0/4394 - - - - - - -
?/? c.373+38G>A r.(=) p.(=) g.33443281C>T Copied from the Exome Variant Server AQP3_000029 6/12964 6/8572 0/4392 - - - - - - -
?/? c.374-40G>T r.(=) p.(=) g.33443008C>A Copied from the Exome Variant Server AQP3_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.374-32C>G r.(=) p.(=) g.33443000G>C Copied from the Exome Variant Server AQP3_000027 5/13006 0/8600 5/4406 - - - - - - -
?/? c.374-30C>T r.(=) p.(=) g.33442998G>A Copied from the Exome Variant Server AQP3_000026 110/13006 102/8600 8/4406 - - - - - - -
?/? c.374-18T>G r.(=) p.(=) g.33442986A>C Copied from the Exome Variant Server AQP3_000025 8939/13006 5514/8600 3425/4406 - - - - - - -
?/? c.374-6C>G r.(=) p.(=) g.33442974G>C Copied from the Exome Variant Server AQP3_000024 4/13006 0/8600 4/4406 - - - - - - -
?/? c.390C>T r.(=) p.(=) g.33442952G>A Copied from the Exome Variant Server AQP3_000023 8324/13006 5042/8600 3282/4406 - - - - - - -
?/? c.394G>A r.(?) p.(Asp132Asn) g.33442948C>T Copied from the Exome Variant Server AQP3_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.399C>T r.(=) p.(=) g.33442943G>A Copied from the Exome Variant Server AQP3_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.453C>T r.(=) p.(=) g.33442889G>A Copied from the Exome Variant Server AQP3_000020 2/13006 0/8600 2/4406 - - - - - - -
?/? c.492+15C>T r.(=) p.(=) g.33442835G>A Copied from the Exome Variant Server AQP3_000019 6/13006 0/8600 6/4406 - - - - - - -
?/? c.492+28C>T r.(=) p.(=) g.33442822G>A Copied from the Exome Variant Server AQP3_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.492+29G>A r.(=) p.(=) g.33442821C>T Copied from the Exome Variant Server AQP3_000017 3/13006 0/8600 3/4406 - - - - - - -
?/? c.492+42C>T r.(=) p.(=) g.33442808G>A Copied from the Exome Variant Server AQP3_000015 48/13006 4/8600 44/4406 - - - - - - -
?/? c.493-30G>A r.(=) p.(=) g.33442546C>T Copied from the Exome Variant Server AQP3_000013 1/12994 0/8592 1/4402 - - - - - - -
?/? c.504A>G r.(=) p.(=) g.33442505T>C Copied from the Exome Variant Server AQP3_000011 5/13006 5/8600 0/4406 - - - - - - -
?/? c.517G>C r.(?) p.(Val173Leu) g.33442492C>G Copied from the Exome Variant Server AQP3_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.558C>G r.(=) p.(=) g.33442451G>C Copied from the Exome Variant Server AQP3_000008 1/13004 1/8600 0/4404 - - - - - - -
?/? c.579C>T r.(=) p.(=) g.33442430G>A Copied from the Exome Variant Server AQP3_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.582C>T r.(=) p.(=) g.33442427G>A Copied from the Exome Variant Server AQP3_000006 1/13004 0/8598 1/4406 - - - - - - -
?/? c.591G>A r.(=) p.(=) g.33442418C>T Copied from the Exome Variant Server AQP3_000005 12/13006 0/8600 12/4406 - - - - - - -
?/? c.639C>T r.(=) p.(=) g.33442370G>A Copied from the Exome Variant Server AQP3_000004 2/12998 1/8594 1/4404 - - - - - - -
?/? c.652C>T r.(?) p.(Arg218Trp) g.33442357G>A Copied from the Exome Variant Server AQP3_000003 1/12996 0/8592 1/4404 - - - - - - -
?/? c.668G>A r.(?) p.(Arg223His) g.33442341C>T Copied from the Exome Variant Server AQP3_000002 1/13000 0/8598 1/4402 - - - - - - -
?/? c.710+27C>T r.(=) p.(=) g.33442272G>A Copied from the Exome Variant Server AQP3_000001 499/12976 456/8588 43/4388 - - - - - - -
?/? c.711-35C>G r.(=) p.(=) g.33442244G>C Copied from the Exome Variant Server AQP3_000016 2/12916 2/8540 0/4376 - - - - - - -
?/? c.829G>A r.(?) p.(Glu277Lys) g.33442091C>T Copied from the Exome Variant Server AQP3_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.876C>G r.(?) p.(Ile292Met) g.33442044G>C Copied from the Exome Variant Server AQP3_000012 2/13006 2/8600 0/4406 - - - - - - -
?/? c.*46T>G r.(=) p.(=) g.33441995A>C Copied from the Exome Variant Server AQP3_000010 2/12984 2/8582 0/4402 - - - - - - -
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