Full data view for gene ECH1

Information The variants shown are described using the NM_001398.2 transcript reference sequence.

103 entries on 2 pages. Showing entries 1 - 100.
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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.-59G>T r.(=) p.(=) g.39322471C>A Copied from the Exome Variant Server ECH1_000103 1/4564 1/3182 0/1382 - - - - - - -
?/? c.-54_-53insC r.(=) p.(=) g.39322465_39322466insG Copied from the Exome Variant Server ECH1_000102 5/12378 2/8174 3/4204 - - - - - - -
?/? c.-46A>T r.(=) p.(=) g.39322458T>A Copied from the Exome Variant Server ECH1_000101 2/12972 2/8580 0/4392 - - - - - - -
?/? c.-44G>C r.(=) p.(=) g.39322456C>G Copied from the Exome Variant Server ECH1_000100 326/12984 2/8586 324/4398 - - - - - - -
?/? c.-14C>G r.(=) p.(=) g.39322426G>C Copied from the Exome Variant Server ECH1_000098 1/13004 0/8600 1/4404 - - - - - - -
?/? c.-2C>A r.(=) p.(=) g.39322414G>T Copied from the Exome Variant Server ECH1_000099 503/13004 452/8600 51/4404 - - - - - - -
?/? c.8C>T r.(?) p.(Ala3Val) g.39322405G>A Copied from the Exome Variant Server ECH1_000097 1/12988 1/8588 0/4400 - - - - - - -
?/? c.23C>G r.(?) p.(Ser8Cys) g.39322390G>C Copied from the Exome Variant Server ECH1_000096 1/13000 1/8598 0/4402 - - - - - - -
?/? c.49C>A r.(=) p.(=) g.39322364G>T Copied from the Exome Variant Server ECH1_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.52+9C>A r.(=) p.(=) g.39322352G>T Copied from the Exome Variant Server ECH1_000094 184/13004 0/8598 184/4406 - - - - - - -
?/? c.52+26del r.(=) p.(=) g.39322335del Copied from the Exome Variant Server ECH1_000093 186/12516 118/8252 68/4264 - - - - - - -
?/? c.52+29C>T r.(=) p.(=) g.39322332G>A Copied from the Exome Variant Server ECH1_000092 1/13000 1/8598 0/4402 - - - - - - -
?/? c.52+38G>A r.(=) p.(=) g.39322323C>T Copied from the Exome Variant Server ECH1_000091 1/12996 1/8594 0/4402 - - - - - - -
?/? c.53-42C>T r.(=) p.(=) g.39322198G>A Copied from the Exome Variant Server ECH1_000090 2/13002 0/8598 2/4404 - - - - - - -
?/? c.53-37A>C r.(=) p.(=) g.39322193T>G Copied from the Exome Variant Server ECH1_000089 1/13004 0/8598 1/4406 - - - - - - -
?/? c.53-27C>T r.(=) p.(=) g.39322183G>A Copied from the Exome Variant Server ECH1_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.53-25T>A r.(=) p.(=) g.39322181A>T Copied from the Exome Variant Server ECH1_000087 11/13006 0/8600 11/4406 - - - - - - -
?/? c.53-18C>T r.(=) p.(=) g.39322174G>A Copied from the Exome Variant Server ECH1_000086 3/13006 0/8600 3/4406 - - - - - - -
?/? c.85A>C r.(?) p.(Ile29Leu) g.39322124T>G Copied from the Exome Variant Server ECH1_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.101C>G r.(?) p.(Thr34Ser) g.39322108G>C Copied from the Exome Variant Server ECH1_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.117A>G r.(=) p.(=) g.39322092T>C Copied from the Exome Variant Server ECH1_000083 4/13006 3/8600 1/4406 - - - - - - -
?/? c.122A>C r.(?) p.(Glu41Ala) g.39322087T>G Copied from the Exome Variant Server ECH1_000082 5865/13006 4745/8600 1120/4406 - - - - - - -
?/? c.153A>G r.(=) p.(=) g.39322056T>C Copied from the Exome Variant Server ECH1_000081 9/13006 7/8600 2/4406 - - - - - - -
?/? c.164A>G r.(?) p.(Tyr55Cys) g.39322045T>C Copied from the Exome Variant Server ECH1_000080 26/13006 0/8600 26/4406 - - - - - - -
?/? c.170C>T r.(?) p.(Ser57Phe) g.39322039G>A Copied from the Exome Variant Server ECH1_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.209T>G r.(?) p.(Val70Gly) g.39322000A>C Copied from the Exome Variant Server ECH1_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.260+30T>A r.(=) p.(=) g.39321919A>T Copied from the Exome Variant Server ECH1_000077 130/13006 0/8600 130/4406 - - - - - - -
?/? c.260+38_260+39insG r.(=) p.(=) g.39321910_39321911insC Copied from the Exome Variant Server ECH1_000076 6/12518 1/8254 5/4264 - - - - - - -
?/? c.260+50C>T r.(=) p.(=) g.39321899G>A Copied from the Exome Variant Server ECH1_000075 1651/13006 1148/8600 503/4406 - - - - - - -
?/? c.261-54A>C r.(=) p.(=) g.39321860T>G Copied from the Exome Variant Server ECH1_000074 15/4566 14/3182 1/1384 - - - - - - -
?/? c.261-48G>A r.(=) p.(=) g.39321854C>T Copied from the Exome Variant Server ECH1_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.261-15C>T r.(=) p.(=) g.39321821G>A Copied from the Exome Variant Server ECH1_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.302_305del r.(?) p.(Asp101Valfs*5) g.39321762_39321765del Copied from the Exome Variant Server ECH1_000071 1/12518 1/8254 0/4264 - - - - - - -
?/? c.349+9C>G r.(=) p.(=) g.39321709G>C Copied from the Exome Variant Server ECH1_000070 33/13006 31/8600 2/4406 - - - - - - -
?/? c.349+22C>T r.(=) p.(=) g.39321696G>A Copied from the Exome Variant Server ECH1_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.349+27C>G r.(=) p.(=) g.39321691G>C Copied from the Exome Variant Server ECH1_000068 360/13006 2/8600 358/4406 - - - - - - -
?/? c.352A>G r.(?) p.(Ile118Val) g.39308213T>C Copied from the Exome Variant Server ECH1_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.357C>T r.(=) p.(=) g.39308208G>A Copied from the Exome Variant Server ECH1_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.375G>A r.(=) p.(=) g.39308190C>T Copied from the Exome Variant Server ECH1_000065 2036/13006 1158/8600 878/4406 - - - - - - -
?/? c.405G>A r.(=) p.(=) g.39308160C>T Copied from the Exome Variant Server ECH1_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.420G>C r.(?) p.(Trp140Cys) g.39308145C>G Copied from the Exome Variant Server ECH1_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.442C>T r.(?) p.(Arg148*) g.39308123G>A Copied from the Exome Variant Server ECH1_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.462C>T r.(=) p.(=) g.39308103G>A Copied from the Exome Variant Server ECH1_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.468C>T r.(=) p.(=) g.39308097G>A Copied from the Exome Variant Server ECH1_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.474+37C>T r.(=) p.(=) g.39308054G>A Copied from the Exome Variant Server ECH1_000059 30/13006 29/8600 1/4406 - - - - - - -
?/? c.474+38G>A r.(=) p.(=) g.39308053C>T Copied from the Exome Variant Server ECH1_000058 95/13006 74/8600 21/4406 - - - - - - -
?/? c.474+34_474+39del r.(=) p.(=) g.39308052_39308057del Copied from the Exome Variant Server ECH1_000057 9/12516 9/8254 0/4262 - - - - - - -
?/? c.474+39C>T r.(=) p.(=) g.39308052G>A Copied from the Exome Variant Server ECH1_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.474+40G>A r.(=) p.(=) g.39308051C>T Copied from the Exome Variant Server ECH1_000055 1/13004 0/8600 1/4404 - - - - - - -
?/? c.475-12G>T r.(=) p.(=) g.39308016C>A Copied from the Exome Variant Server ECH1_000054 6/13006 0/8600 6/4406 - - - - - - -
?/? c.486C>T r.(=) p.(=) g.39307993G>A Copied from the Exome Variant Server ECH1_000053 1/13000 0/8598 1/4402 - - - - - - -
?/? c.498C>T r.(=) p.(=) g.39307981G>A Copied from the Exome Variant Server ECH1_000052 1/12996 0/8596 1/4400 - - - - - - -
?/? c.523+6T>G r.(=) p.(=) g.39307950A>C Copied from the Exome Variant Server ECH1_000051 1/12936 0/8562 1/4374 - - - - - - -
?/? c.523+11G>A r.(=) p.(=) g.39307945C>T Copied from the Exome Variant Server ECH1_000050 1/12914 1/8548 0/4366 - - - - - - -
?/? c.523+31G>A r.(=) p.(=) g.39307925C>T Copied from the Exome Variant Server ECH1_000049 2413/12768 1557/8464 856/4304 - - - - - - -
?/? c.523+61C>T r.(=) p.(=) g.39307895G>A Copied from the Exome Variant Server ECH1_000048 1/4566 1/3182 0/1384 - - - - - - -
?/? c.523+63C>G r.(=) p.(=) g.39307893G>C Copied from the Exome Variant Server ECH1_000047 685/4566 430/3182 255/1384 - - - - - - -
?/? c.524-3T>C r.spl? p.? g.39307772A>G Copied from the Exome Variant Server ECH1_000046 1/12966 0/8572 1/4394 - - - - - - -
?/? c.588+48G>A r.(=) p.(=) g.39307657C>T Copied from the Exome Variant Server ECH1_000045 1/12830 0/8480 1/4350 - - - - - - -
?/? c.588+55G>A r.(=) p.(=) g.39307650C>T Copied from the Exome Variant Server ECH1_000044 21/4566 19/3182 2/1384 - - - - - - -
?/? c.589-62T>C r.(=) p.(=) g.39307225A>G Copied from the Exome Variant Server ECH1_000043 1/4566 1/3182 0/1384 - - - - - - -
?/? c.589-35G>A r.(=) p.(=) g.39307198C>T Copied from the Exome Variant Server ECH1_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.589-3C>G r.spl? p.? g.39307166G>C Copied from the Exome Variant Server ECH1_000041 19/13006 0/8600 19/4406 - - - - - - -
?/? c.613G>A r.(?) p.(Asp205Asn) g.39307139C>T Copied from the Exome Variant Server ECH1_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.632G>A r.(?) p.(Arg211His) g.39307120C>T Copied from the Exome Variant Server ECH1_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.633C>G r.(=) p.(=) g.39307119G>C Copied from the Exome Variant Server ECH1_000038 7/13006 7/8600 0/4406 - - - - - - -
?/? c.649G>A r.(?) p.(Gly217Arg) g.39307103C>T Copied from the Exome Variant Server ECH1_000037 1069/13006 955/8600 114/4406 - - - - - - -
?/? c.659+13G>T r.(=) p.(=) g.39307080C>A Copied from the Exome Variant Server ECH1_000036 2/13006 0/8600 2/4406 - - - - - - -
?/? c.659+14G>A r.(=) p.(=) g.39307079C>T Copied from the Exome Variant Server ECH1_000035 31/13006 0/8600 31/4406 - - - - - - -
?/? c.660-41C>T r.(=) p.(=) g.39307036G>A Copied from the Exome Variant Server ECH1_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.660-40G>A r.(=) p.(=) g.39307035C>T Copied from the Exome Variant Server ECH1_000033 74/13006 2/8600 72/4406 - - - - - - -
?/? c.660-15C>T r.(=) p.(=) g.39307010G>A Copied from the Exome Variant Server ECH1_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.693G>C r.(?) p.(Lys231Asn) g.39306962C>G Copied from the Exome Variant Server ECH1_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.711C>T r.(=) p.(=) g.39306944G>A Copied from the Exome Variant Server ECH1_000030 5/13004 0/8598 5/4406 - - - - - - -
?/? c.715G>A r.(?) p.(Gly239Ser) g.39306940C>T Copied from the Exome Variant Server ECH1_000029 53/13006 0/8600 53/4406 - - - - - - -
?/? c.731+6G>A r.(=) p.(=) g.39306918C>T Copied from the Exome Variant Server ECH1_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.732-27C>G r.(=) p.(=) g.39306674G>C Copied from the Exome Variant Server ECH1_000027 8/12878 7/8516 1/4362 - - - - - - -
?/? c.736G>A r.(?) p.(Val246Met) g.39306643C>T Copied from the Exome Variant Server ECH1_000026 5/13000 0/8596 5/4404 - - - - - - -
?/? c.785C>T r.(?) p.(Ala262Val) g.39306594G>A Copied from the Exome Variant Server ECH1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.786C>T r.(=) p.(=) g.39306593G>A Copied from the Exome Variant Server ECH1_000024 1/13004 1/8600 0/4404 - - - - - - -
?/? c.806C>T r.(?) p.(Pro269Leu) g.39306573G>A Copied from the Exome Variant Server ECH1_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.808G>A r.(?) p.(Val270Met) g.39306571C>T Copied from the Exome Variant Server ECH1_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.828G>A r.(=) p.(=) g.39306551C>T Copied from the Exome Variant Server ECH1_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.841T>A r.(?) p.(Tyr281Asn) g.39306538A>T Copied from the Exome Variant Server ECH1_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.842A>G r.(?) p.(Tyr281Cys) g.39306537T>C Copied from the Exome Variant Server ECH1_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.847C>T r.(?) p.(Arg283Cys) g.39306532G>A Copied from the Exome Variant Server ECH1_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.850G>A r.(?) p.(Asp284Asn) g.39306529C>T Copied from the Exome Variant Server ECH1_000017 9/13006 3/8600 6/4406 - - - - - - -
?/? c.864C>T r.(=) p.(=) g.39306515G>A Copied from the Exome Variant Server ECH1_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.870C>T r.(=) p.(=) g.39306509G>A Copied from the Exome Variant Server ECH1_000015 2/13006 0/8600 2/4406 - - - - - - -
?/? c.882+16C>T r.(=) p.(=) g.39306481G>A Copied from the Exome Variant Server ECH1_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.882+17G>A r.(=) p.(=) g.39306480C>T Copied from the Exome Variant Server ECH1_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.882+17_882+18insCTCCG r.(=) p.(=) g.39306479_39306480insCGGAG Copied from the Exome Variant Server ECH1_000012 2/12518 0/8254 2/4264 - - - - - - -
?/? c.882+22A>G r.(=) p.(=) g.39306475T>C Copied from the Exome Variant Server ECH1_000011 6/13006 6/8600 0/4406 - - - - - - -
?/? c.883-27G>T r.(=) p.(=) g.39306384C>A Copied from the Exome Variant Server ECH1_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.883-21T>C r.(=) p.(=) g.39306378A>G Copied from the Exome Variant Server ECH1_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.883-20C>A r.(=) p.(=) g.39306377G>T Copied from the Exome Variant Server ECH1_000008 3/13006 0/8600 3/4406 - - - - - - -
?/? c.883-9C>T r.(=) p.(=) g.39306366G>A Copied from the Exome Variant Server ECH1_000007 2/13006 2/8600 0/4406 - - - - - - -
?/? c.930G>A r.(=) p.(=) g.39306310C>T Copied from the Exome Variant Server ECH1_000006 4/13006 0/8600 4/4406 - - - - - - -
?/? c.942G>A r.(=) p.(=) g.39306298C>T Copied from the Exome Variant Server ECH1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.953A>G r.(?) p.(Lys318Arg) g.39306287T>C Copied from the Exome Variant Server ECH1_000004 1/13006 0/8600 1/4406 - - - - - - -
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