Full data view for gene EDN3

Information The variants shown are described using the NM_000114.2 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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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.-44C>T r.(=) p.(=) g.57875824C>T Copied from the Exome Variant Server EDN3_000001 3/12864 3/8502 0/4362 - - - - - - -
?/? c.-41C>G r.(=) p.(=) g.57875827C>G Copied from the Exome Variant Server EDN3_000002 1/12886 1/8520 0/4366 - - - - - - -
?/? c.43T>G r.(?) p.(Ser15Ala) g.57875910T>G Copied from the Exome Variant Server EDN3_000003 1/12944 1/8560 0/4384 - - - - - - -
?/? c.49G>A r.(?) p.(Ala17Thr) g.57875916G>A Copied from the Exome Variant Server EDN3_000004 2/12924 1/8548 1/4376 - - - - - - -
?/? c.94G>A r.(?) p.(Gly32Ser) g.57876506G>A Copied from the Exome Variant Server EDN3_000005 1/12996 1/8592 0/4404 - - - - - - -
?/? c.98T>A r.(?) p.(Val33Glu) g.57876510T>A Copied from the Exome Variant Server EDN3_000006 1/13004 0/8598 1/4406 - - - - - - -
?/? c.135C>T r.(=) p.(=) g.57876547C>T Copied from the Exome Variant Server EDN3_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.146C>T r.(?) p.(Thr49Ile) g.57876558C>T Copied from the Exome Variant Server EDN3_000008 1/12994 1/8592 0/4402 - - - - - - -
?/? c.167A>G r.(?) p.(Glu56Gly) g.57876579A>G Copied from the Exome Variant Server EDN3_000009 3/12994 0/8596 3/4398 - - - - - - -
?/? c.181C>T r.(?) p.(Pro61Ser) g.57876593C>T Copied from the Exome Variant Server EDN3_000010 1/13000 0/8598 1/4402 - - - - - - -
?/? c.208G>A r.(?) p.(Ala70Thr) g.57876620G>A Copied from the Exome Variant Server EDN3_000011 2/13002 0/8598 2/4404 - - - - - - -
?/? c.218G>A r.(?) p.(Gly73Asp) g.57876630G>A Copied from the Exome Variant Server EDN3_000012 1/13002 0/8598 1/4404 - - - - - - -
?/? c.244G>A r.(?) p.(Glu82Lys) g.57876656G>A Copied from the Exome Variant Server EDN3_000013 1/13004 1/8598 0/4406 - - - - - - -
?/? c.251C>A r.(?) p.(Ala84Glu) g.57876663C>A Copied from the Exome Variant Server EDN3_000014 2/13002 0/8596 2/4406 - - - - - - -
?/? c.254C>G r.(?) p.(Ala85Gly) g.57876666C>G Copied from the Exome Variant Server EDN3_000015 2/13004 0/8598 2/4406 - - - - - - -
?/? c.261G>A r.(=) p.(=) g.57876673G>A Copied from the Exome Variant Server EDN3_000016 1/13004 1/8598 0/4406 - - - - - - -
?/? c.265C>T r.(?) p.(Pro89Ser) g.57876677C>T Copied from the Exome Variant Server EDN3_000017 2/13004 0/8598 2/4406 - - - - - - -
?/? c.268G>C r.(?) p.(Glu90Gln) g.57876680G>C Copied from the Exome Variant Server EDN3_000018 1/13004 0/8598 1/4406 - - - - - - -
?/? c.287G>A r.(?) p.(Arg96His) g.57876699G>A Copied from the Exome Variant Server EDN3_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.294G>C r.(=) p.(=) g.57876706G>C Copied from the Exome Variant Server EDN3_000020 2/13006 0/8600 2/4406 - - - - - - -
?/? c.365+23G>A r.(=) p.(=) g.57876800G>A Copied from the Exome Variant Server EDN3_000021 316/13006 293/8600 23/4406 - - - - - - -
?/? c.365+27C>T r.(=) p.(=) g.57876804C>T Copied from the Exome Variant Server EDN3_000022 6/13006 6/8600 0/4406 - - - - - - -
?/? c.365+28G>A r.(=) p.(=) g.57876805G>A Copied from the Exome Variant Server EDN3_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.365+31G>A r.(=) p.(=) g.57876808G>A Copied from the Exome Variant Server EDN3_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.365+41C>G r.(=) p.(=) g.57876818C>G Copied from the Exome Variant Server EDN3_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.366-30G>A r.(=) p.(=) g.57896042G>A Copied from the Exome Variant Server EDN3_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.404G>T r.(?) p.(Ser135Ile) g.57896110G>T Copied from the Exome Variant Server EDN3_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.461G>A r.(?) p.(Arg154Gln) g.57896167G>A Copied from the Exome Variant Server EDN3_000028 2/13006 0/8600 2/4406 - - - - - - -
?/? c.470T>C r.(?) p.(Leu157Ser) g.57896176T>C Copied from the Exome Variant Server EDN3_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.477C>T r.(=) p.(=) g.57896183C>T Copied from the Exome Variant Server EDN3_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.486G>A r.(=) p.(=) g.57896192G>A Copied from the Exome Variant Server EDN3_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.501G>A r.(=) p.(=) g.57896207G>A Copied from the Exome Variant Server EDN3_000032 4/13006 0/8600 4/4406 - - - - - - -
?/? c.508C>T r.(=) p.(=) g.57896214C>T Copied from the Exome Variant Server EDN3_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.525A>G r.(=) p.(=) g.57896231A>G Copied from the Exome Variant Server EDN3_000034 65/13006 0/8600 65/4406 - - - - - - -
?/? c.534C>T r.(=) p.(=) g.57896240C>T Copied from the Exome Variant Server EDN3_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.542+12C>T r.(=) p.(=) g.57896260C>T Copied from the Exome Variant Server EDN3_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.542+37A>G r.(=) p.(=) g.57896285A>G Copied from the Exome Variant Server EDN3_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.542+50C>T r.(=) p.(=) g.57896298C>T Copied from the Exome Variant Server EDN3_000038 3/13006 0/8600 3/4406 - - - - - - -
?/? c.543-37G>C r.(=) p.(=) g.57897390G>C Copied from the Exome Variant Server EDN3_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.543-34G>A r.(=) p.(=) g.57897393G>A Copied from the Exome Variant Server EDN3_000040 2/13006 0/8600 2/4406 - - - - - - -
?/? c.543-33G>A r.(=) p.(=) g.57897394G>A Copied from the Exome Variant Server EDN3_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.543-28T>C r.(=) p.(=) g.57897399T>C Copied from the Exome Variant Server EDN3_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.543-12C>T r.(=) p.(=) g.57897415C>T Copied from the Exome Variant Server EDN3_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.543-3C>G r.spl? p.? g.57897424C>G Copied from the Exome Variant Server EDN3_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.554C>T r.(?) p.(Thr185Met) g.57897438C>T Copied from the Exome Variant Server EDN3_000045 4/13006 2/8600 2/4406 - - - - - - -
?/? c.559_560insA r.(?) p.(Thr189Asnfs*10) g.57897443_57897444insA Copied from the Exome Variant Server EDN3_000046 33/12518 22/8254 11/4264 - - - - - - -
?/? c.588+48C>T r.(=) p.(=) g.57897520C>T Copied from the Exome Variant Server EDN3_000047 19/13006 19/8600 0/4406 - - - - - - -
?/? c.588+63G>A r.(=) p.(=) g.57897535G>A Copied from the Exome Variant Server EDN3_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.588+70G>T r.(=) p.(=) g.57897542G>T Copied from the Exome Variant Server EDN3_000049 2/13006 0/8600 2/4406 - - - - - - -
?/? c.589-42T>C r.(=) p.(=) g.57899344T>C Copied from the Exome Variant Server EDN3_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.589-40C>T r.(=) p.(=) g.57899346C>T Copied from the Exome Variant Server EDN3_000051 141/13006 0/8600 141/4406 - - - - - - -
?/? c.589-35_589-34insT r.(=) p.(=) g.57899351_57899352insT Copied from the Exome Variant Server EDN3_000052 28/12518 10/8254 18/4264 - - - - - - -
?/? c.589-17C>T r.(=) p.(=) g.57899369C>T Copied from the Exome Variant Server EDN3_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.589-10C>T r.(=) p.(=) g.57899376C>T Copied from the Exome Variant Server EDN3_000054 2/13006 2/8600 0/4406 - - - - - - -
?/? c.599A>T r.(?) p.(Lys200Met) g.57899396A>T Copied from the Exome Variant Server EDN3_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.663C>T r.(=) p.(=) g.57899460C>T Copied from the Exome Variant Server EDN3_000056 2/13006 0/8600 2/4406 - - - - - - -
?/? c.669C>T r.(=) p.(=) g.57899466C>T Copied from the Exome Variant Server EDN3_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.670G>A r.(?) p.(Ala224Thr) g.57899467G>A Copied from the Exome Variant Server EDN3_000058 22/13006 1/8600 21/4406 - - - - - - -
?/? c.688C>T r.(?) p.(Arg230Cys) g.57899485C>T Copied from the Exome Variant Server EDN3_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.689G>A r.(?) p.(Arg230His) g.57899486G>A Copied from the Exome Variant Server EDN3_000060 7/13006 2/8600 5/4406 - - - - - - -
?/? c.717G>A r.(=) p.(=) g.57899514G>A Copied from the Exome Variant Server EDN3_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*1G>T r.(=) p.(=) g.57899515G>T Copied from the Exome Variant Server EDN3_000062 2/13006 0/8600 2/4406 - - - - - - -
?/? c.*15+3A>G r.spl? p.? g.57899532A>G Copied from the Exome Variant Server EDN3_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*15+13C>T r.(=) p.(=) g.57899542C>T Copied from the Exome Variant Server EDN3_000064 18/13006 1/8600 17/4406 - - - - - - -
?/? c.*15+14G>A r.(=) p.(=) g.57899543G>A Copied from the Exome Variant Server EDN3_000065 3/13006 0/8600 3/4406 - - - - - - -
?/? c.*15+29T>C r.(=) p.(=) g.57899558T>C Copied from the Exome Variant Server EDN3_000066 9/13006 0/8600 9/4406 - - - - - - -
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