Full data view for gene ABHD14A-ACY1

Information The variants shown are described using the NR_037192.1 transcript reference sequence.

152 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     
?/? n.180-42G>A r.(=) p.(=) g.52011845G>A Copied from the Exome Variant Server ABHD14A_000001 1/13004 0/8598 1/4406 - - - - - - -
?/? n.180-8C>T r.(=) p.(=) g.52011879C>T Copied from the Exome Variant Server ABHD14A_000002 1278/13006 134/8600 1144/4406 - - - - - - -
?/? n.199T>G r.(?) p.(Met30Arg) g.52011906T>G Copied from the Exome Variant Server ABHD14A_000003 75/13006 0/8600 75/4406 - - - - - - -
?/? n.204C>T r.(?) p.(Arg32Trp) g.52011911C>T Copied from the Exome Variant Server ABHD14A_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? n.205G>A r.(?) p.(Arg32Gln) g.52011912G>A Copied from the Exome Variant Server ABHD14A_000005 338/13006 305/8600 33/4406 - - - - - - -
?/? n.209C>T r.(=) p.(=) g.52011916C>T Copied from the Exome Variant Server ABHD14A_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? n.218C>T r.(=) p.(=) g.52011925C>T Copied from the Exome Variant Server ABHD14A_000007 82/13006 0/8600 82/4406 - - - - - - -
?/? n.225G>C r.(?) p.(Gly39Arg) g.52011932G>C Copied from the Exome Variant Server ABHD14A_000008 2/13006 0/8600 2/4406 - - - - - - -
?/? n.293C>G r.(?) p.(Cys61Trp) g.52012000C>G Copied from the Exome Variant Server ABHD14A_000009 1150/13006 17/8600 1133/4406 - - - - - - -
?/? n.362C>T r.(=) p.(=) g.52012069C>T Copied from the Exome Variant Server ABHD14A_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? n.380C>G r.(?) p.(Asn90Lys) g.52012087C>G Copied from the Exome Variant Server ABHD14A_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? n.392-50G>T r.(=) p.(=) g.52012225G>T Copied from the Exome Variant Server ABHD14A_000012 11/12452 9/8238 2/4214 - - - - - - -
?/? n.392-35G>A r.(=) p.(=) g.52012240G>A Copied from the Exome Variant Server ABHD14A_000013 1/12346 0/8154 1/4192 - - - - - - -
?/? n.392-31C>T r.(=) p.(=) g.52012244C>T Copied from the Exome Variant Server ABHD14A_000014 30/12304 26/8118 4/4186 - - - - - - -
?/? n.392-25A>T r.(=) p.(=) g.52012250A>T Copied from the Exome Variant Server ABHD14A_000015 988/12316 17/8122 971/4194 - - - - - - -
?/? n.392-10G>C r.(=) p.(=) g.52012265G>C Copied from the Exome Variant Server ABHD14A_000016 378/12270 8/8094 370/4176 - - - - - - -
?/? n.398del r.(?) p.(Val97Trpfs*72) g.52012281del Copied from the Exome Variant Server ABHD14A_000017 25/11788 17/7766 8/4022 - - - - - - -
?/? n.437G>A r.(=) p.(=) g.52012320G>A Copied from the Exome Variant Server ABHD14A_000018 274/12424 241/8202 33/4222 - - - - - - -
?/? n.443G>T r.(?) p.(Glu111Asp) g.52012326G>T Copied from the Exome Variant Server ABHD14A_000019 1/12404 1/8184 0/4220 - - - - - - -
?/? n.484G>A r.(?) p.(Arg125Gln) g.52012367G>A Copied from the Exome Variant Server ABHD14A_000020 1/12140 1/7978 0/4162 - - - - - - -
?/? n.488C>T r.(=) p.(=) g.52012371C>T Copied from the Exome Variant Server ABHD14A_000021 1/12056 0/7922 1/4134 - - - - - - -
?/? n.507+1986T>C r.(=) p.(=) g.52014376T>C Copied from the Exome Variant Server ABHD14A_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? n.507+2026G>C r.(=) p.(=) g.52014416G>C Copied from the Exome Variant Server ABHD14A_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? n.507+2074G>A r.(=) p.(=) g.52014464G>A Copied from the Exome Variant Server ABHD14A_000026 1/13004 0/8598 1/4406 - - - - - - -
?/? n.507+2084C>T r.(?) p.(Arg155Trp) g.52014474C>T Copied from the Exome Variant Server ABHD14A_000028 2/13006 0/8600 2/4406 - - - - - - -
?/? n.507+2089G>A r.(=) p.(=) g.52014479G>A Copied from the Exome Variant Server ABHD14A_000030 2/13006 0/8600 2/4406 - - - - - - -
?/? n.507+2093C>T r.(?) p.(Arg158Trp) g.52014483C>T Copied from the Exome Variant Server ABHD14A_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? n.507+2096G>A r.(?) p.(Asp159Asn) g.52014486G>A Copied from the Exome Variant Server ABHD14A_000034 243/13006 219/8600 24/4406 - - - - - - -
?/? n.507+2110G>A r.(=) p.(=) g.52014500G>A Copied from the Exome Variant Server ABHD14A_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? n.507+2116C>T r.(=) p.(=) g.52014506C>T Copied from the Exome Variant Server ABHD14A_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? n.507+2131C>G r.(=) p.(=) g.52014521C>G Copied from the Exome Variant Server ABHD14A_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? n.507+2134G>A r.(=) p.(=) g.52014524G>A Copied from the Exome Variant Server ABHD14A_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? n.507+2167G>T r.(?) p.(Met182Ile) g.52014557G>T Copied from the Exome Variant Server ABHD14A_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? n.507+2176C>G r.(?) p.(His185Gln) g.52014566C>G Copied from the Exome Variant Server ABHD14A_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? n.507+2186C>T r.(?) p.(His189Tyr) g.52014576C>T Copied from the Exome Variant Server ABHD14A_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? n.507+2187A>G r.(?) p.(His189Arg) g.52014577A>G Copied from the Exome Variant Server ABHD14A_000027 3/13006 2/8600 1/4406 - - - - - - -
?/? n.507+2196T>C r.(?) p.(Val192Ala) g.52014586T>C Copied from the Exome Variant Server ABHD14A_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? n.507+2203C>T r.(=) p.(=) g.52014593C>T Copied from the Exome Variant Server ABHD14A_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? n.507+2204G>C r.(?) p.(Ala195Pro) g.52014594G>C Copied from the Exome Variant Server ABHD14A_000033 4/13006 0/8600 4/4406 - - - - - - -
?/? n.507+2255G>T r.(=) p.(=) g.52014645G>T Copied from the Exome Variant Server ABHD14A_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? n.507+2287C>T r.(=) p.(=) g.52014677C>T Copied from the Exome Variant Server ABHD14A_000037 6/13006 6/8600 0/4406 - - - - - - -
?/? n.507+2293C>G r.(=) p.(=) g.52014683C>G Copied from the Exome Variant Server ABHD14A_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? n.507+2303G>C r.(=) p.(=) g.52014693G>C Copied from the Exome Variant Server ABHD14A_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? n.507+2424C>G r.(=) p.(=) g.52014814C>G Copied from the Exome Variant Server ABHD14A_000043 2/13006 2/8600 0/4406 - - - - - - -
?/? n.507+2437C>T r.(=) p.(=) g.52014827C>T Copied from the Exome Variant Server ABHD14A_000045 6/13006 5/8600 1/4406 - - - - - - -
?/? n.507+2507C>G r.(?) p.(Arg227Gly) g.52014897C>G Copied from the Exome Variant Server ABHD14A_000046 27/13006 20/8600 7/4406 - - - - - - -
?/? n.507+2508G>A r.(?) p.(Arg227Gln) g.52014898G>A Copied from the Exome Variant Server ABHD14A_000047 2/13006 1/8600 1/4406 - - - - - - -
?/? n.507+2517T>G r.(?) p.(Leu230Arg) g.52014907T>G Copied from the Exome Variant Server ABHD14A_000048 43/13006 38/8600 5/4406 - - - - - - -
?/? n.507+2520G>A r.(?) p.(Arg231Gln) g.52014910G>A Copied from the Exome Variant Server ABHD14A_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? n.507+2528C>T r.(?) p.(Arg234Cys) g.52014918C>T Copied from the Exome Variant Server ABHD14A_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? n.507+2529G>A r.(?) p.(Arg234His) g.52014919G>A Copied from the Exome Variant Server ABHD14A_000051 3/13006 0/8600 3/4406 - - - - - - -
?/? n.507+2551G>C r.(=) p.(=) g.52014941G>C Copied from the Exome Variant Server ABHD14A_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? n.507+2573C>T r.(?) p.(His249Tyr) g.52014963C>T Copied from the Exome Variant Server ABHD14A_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? n.507+2596G>A r.(=) p.(=) g.52014986G>A Copied from the Exome Variant Server ABHD14A_000054 2/13006 2/8600 0/4406 - - - - - - -
?/? n.507+2659A>G r.(=) p.(=) g.52015049A>G Copied from the Exome Variant Server ABHD14A_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? n.507+2668C>A r.(=) p.(=) g.52015058C>A Copied from the Exome Variant Server ABHD14A_000056 2/13006 0/8600 2/4406 - - - - - - -
?/? n.507+2695C>T r.(=) p.(=) g.52015085C>T Copied from the Exome Variant Server ABHD14A_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? n.516G>A r.(?) - g.52018071G>A Copied from the Exome Variant Server ACY1_000001 1/13006 1/8600 0/4406 - - - - - - -
?/? n.548A>T r.(?) p.(Glu8Val) g.52018103A>T Copied from the Exome Variant Server ACY1_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? n.555C>T r.(=) p.(=) g.52018110C>T Copied from the Exome Variant Server ACY1_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? n.561G>A r.(=) p.(=) g.52018116G>A Copied from the Exome Variant Server ACY1_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? n.567G>A r.(=) p.(=) g.52018122G>A Copied from the Exome Variant Server ACY1_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? n.573C>T r.(=) p.(=) g.52018128C>T Copied from the Exome Variant Server ACY1_000006 7/13006 0/8600 7/4406 - - - - - - -
?/? n.583C>G r.(?) p.(Leu20Val) g.52018138C>G Copied from the Exome Variant Server ACY1_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? n.593G>A r.(?) p.(Arg23His) g.52018148G>A Copied from the Exome Variant Server ACY1_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? n.594C>G r.(=) p.(=) g.52018149C>G Copied from the Exome Variant Server ACY1_000009 46/13006 41/8600 5/4406 - - - - - - -
?/? n.606C>G r.(=) p.(=) g.52018161C>G Copied from the Exome Variant Server ACY1_000010 34/13006 31/8600 3/4406 - - - - - - -
?/? n.619+32G>A r.(=) p.(=) g.52018206G>A Copied from the Exome Variant Server ACY1_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? n.619+34G>T r.(=) p.(=) g.52018208G>T Copied from the Exome Variant Server ACY1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? n.619+45C>T r.(=) p.(=) g.52018219C>T Copied from the Exome Variant Server ACY1_000013 50/13004 2/8598 48/4406 - - - - - - -
?/? n.619+47G>A r.(=) p.(=) g.52018221G>A Copied from the Exome Variant Server ACY1_000014 128/13004 115/8598 13/4406 - - - - - - -
?/? n.685-31T>C r.(=) p.(=) g.52019346T>C Copied from the Exome Variant Server ACY1_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? n.685-15C>T r.(=) p.(=) g.52019362C>T Copied from the Exome Variant Server ACY1_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? n.709G>A r.(?) p.(Val62Met) g.52019401G>A Copied from the Exome Variant Server ACY1_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? n.735T>G r.(=) p.(=) g.52019427T>G Copied from the Exome Variant Server ACY1_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? n.777G>C r.(=) p.(=) g.52019469G>C Copied from the Exome Variant Server ACY1_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? n.789+11G>A r.(=) p.(=) g.52019492G>A Copied from the Exome Variant Server ACY1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? n.805G>A r.(?) p.(Asp94Asn) g.52019883G>A Copied from the Exome Variant Server ACY1_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? n.841A>C r.(?) p.(Ile106Leu) g.52019919A>C Copied from the Exome Variant Server ACY1_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? n.857C>T r.(?) p.(Ala111Val) g.52019935C>T Copied from the Exome Variant Server ACY1_000032 11/13006 0/8600 11/4406 - - - - - - -
?/? n.874G>A r.(?) p.(Val117Ile) g.52019952G>A Copied from the Exome Variant Server ACY1_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? n.884+4A>G r.spl? p.? g.52019966A>G Copied from the Exome Variant Server ACY1_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? n.884+20A>T r.(=) p.(=) g.52019982A>T Copied from the Exome Variant Server ACY1_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? n.884+38C>T r.(=) p.(=) g.52020000C>T Copied from the Exome Variant Server ACY1_000015 1/13002 1/8598 0/4404 - - - - - - -
?/? n.885-27C>G r.(=) p.(=) g.52020244C>G Copied from the Exome Variant Server ACY1_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? n.892_893insA r.(?) p.(Ala124Serfs*23) g.52020278_52020279insA Copied from the Exome Variant Server ACY1_000020 1/12520 1/8254 0/4266 - - - - - - -
?/? n.909G>T r.(=) p.(=) g.52020295G>T Copied from the Exome Variant Server ACY1_000021 16/13006 15/8600 1/4406 - - - - - - -
?/? n.913G>A r.(?) p.(Val130Met) g.52020299G>A Copied from the Exome Variant Server ACY1_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? n.925C>T r.(?) p.(Arg134Trp) g.52020311C>T Copied from the Exome Variant Server ACY1_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? n.926G>A r.(?) p.(Arg134Gln) g.52020312G>A Copied from the Exome Variant Server ACY1_000028 2/13006 1/8600 1/4406 - - - - - - -
?/? n.955G>A r.(?) p.(Val144Met) g.52020341G>A Copied from the Exome Variant Server ACY1_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? n.961+35G>A r.(=) p.(=) g.52020382G>A Copied from the Exome Variant Server ACY1_000031 1/13000 1/8596 0/4404 - - - - - - -
?/? n.962-41C>A r.(=) p.(=) g.52020390C>A Copied from the Exome Variant Server ACY1_000033 1/13000 0/8598 1/4402 - - - - - - -
?/? n.962-20C>T r.(=) p.(=) g.52020411C>T Copied from the Exome Variant Server ACY1_000035 1586/13006 198/8600 1388/4406 - - - - - - -
?/? n.1014G>A r.(=) p.(=) g.52020483G>A Copied from the Exome Variant Server ACY1_000037 1/13004 0/8598 1/4406 - - - - - - -
?/? n.1052-29C>T r.(=) p.(=) g.52020592C>T Copied from the Exome Variant Server ACY1_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? n.1052-17C>A r.(=) p.(=) g.52020604C>A Copied from the Exome Variant Server ACY1_000040 396/13006 9/8600 387/4406 - - - - - - -
?/? n.1061A>G r.(?) p.(Asn179Ser) g.52020630A>G Copied from the Exome Variant Server ACY1_000041 112/13006 5/8600 107/4406 - - - - - - -
?/? n.1084_1085del r.(?) p.(Phe187Leufs*2) g.52020653_52020654del Copied from the Exome Variant Server ACY1_000042 2/12520 0/8254 2/4266 - - - - - - -
?/? n.1099_1100insG r.(?) p.(Ser192Argfs*64) g.52020668_52020669insG Copied from the Exome Variant Server ACY1_000043 1/12520 1/8254 0/4266 - - - - - - -
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