Full data view for gene ABHD1

Information The variants shown are described using the NM_032604.3 transcript reference sequence.

118 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.-45C>G r.(=) p.(=) g.27346772C>G Copied from the Exome Variant Server ABHD1_000001 12/13006 12/8600 0/4406 - - - - - - -
?/? c.-31G>C r.(=) p.(=) g.27346786G>C Copied from the Exome Variant Server ABHD1_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-8A>G r.(=) p.(=) g.27346809A>G Copied from the Exome Variant Server ABHD1_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-7A>G r.(=) p.(=) g.27346810A>G Copied from the Exome Variant Server ABHD1_000004 3/13006 3/8600 0/4406 - - - - - - -
?/? c.21C>T r.(=) p.(=) g.27346837C>T Copied from the Exome Variant Server ABHD1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.25C>G r.(?) p.(Gln9Glu) g.27346841C>G Copied from the Exome Variant Server ABHD1_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.96C>G r.(?) p.(Tyr32*) g.27346912C>G Copied from the Exome Variant Server ABHD1_000007 3/13006 3/8600 0/4406 - - - - - - -
?/? c.112C>A r.(?) p.(Gln38Lys) g.27346928C>A Copied from the Exome Variant Server ABHD1_000008 4/13006 4/8600 0/4406 - - - - - - -
?/? c.114+4G>C r.spl? p.? g.27346934G>C Copied from the Exome Variant Server ABHD1_000009 5/13006 5/8600 0/4406 - - - - - - -
?/? c.114+35T>C r.(=) p.(=) g.27346965T>C Copied from the Exome Variant Server ABHD1_000010 2/13004 2/8598 0/4406 - - - - - - -
?/? c.115-73C>T r.(=) p.(=) g.27351236C>T Copied from the Exome Variant Server ABHD1_000011 1/5734 1/3982 0/1752 - - - - - - -
?/? c.115-44G>C r.(=) p.(=) g.27351265G>C Copied from the Exome Variant Server ABHD1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.115-30G>A r.(=) p.(=) g.27351279G>A Copied from the Exome Variant Server ABHD1_000013 8217/13006 5458/8600 2759/4406 - - - - - - -
?/? c.149C>T r.(?) p.(Ala50Val) g.27351343C>T Copied from the Exome Variant Server ABHD1_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.161C>A r.(?) p.(Pro54Gln) g.27351355C>A Copied from the Exome Variant Server ABHD1_000015 229/13006 1/8600 228/4406 - - - - - - -
?/? c.173T>C r.(?) p.(Ile58Thr) g.27351367T>C Copied from the Exome Variant Server ABHD1_000016 3/13006 3/8600 0/4406 - - - - - - -
?/? c.181G>A r.(?) p.(Glu61Lys) g.27351375G>A Copied from the Exome Variant Server ABHD1_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.182A>G r.(?) p.(Glu61Gly) g.27351376A>G Copied from the Exome Variant Server ABHD1_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.198G>A r.(=) p.(=) g.27351392G>A Copied from the Exome Variant Server ABHD1_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.201G>A r.(=) p.(=) g.27351395G>A Copied from the Exome Variant Server ABHD1_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.210T>G r.(?) p.(Phe70Leu) g.27351404T>G Copied from the Exome Variant Server ABHD1_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.254A>G r.(?) p.(Gln85Arg) g.27351448A>G Copied from the Exome Variant Server ABHD1_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.256C>T r.(?) p.(Pro86Ser) g.27351450C>T Copied from the Exome Variant Server ABHD1_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.275+39G>C r.(=) p.(=) g.27351508G>C Copied from the Exome Variant Server ABHD1_000024 2/13006 0/8600 2/4406 - - - - - - -
?/? c.276-6A>T r.(=) p.(=) g.27351807A>T Copied from the Exome Variant Server ABHD1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.286C>T r.(?) p.(Gln96*) g.27351823C>T Copied from the Exome Variant Server ABHD1_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.309C>A r.(=) p.(=) g.27351846C>A Copied from the Exome Variant Server ABHD1_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.311T>C r.(?) p.(Leu104Pro) g.27351848T>C Copied from the Exome Variant Server ABHD1_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.318C>T r.(=) p.(=) g.27351855C>T Copied from the Exome Variant Server ABHD1_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.348C>T r.(=) p.(=) g.27351885C>T Copied from the Exome Variant Server ABHD1_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.373G>A r.(?) p.(Val125Met) g.27351910G>A Copied from the Exome Variant Server ABHD1_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.404G>A r.(?) p.(Ser135Asn) g.27351941G>A Copied from the Exome Variant Server ABHD1_000032 10/13006 9/8600 1/4406 - - - - - - -
?/? c.411T>G N/A N/A g.27351948T>G Copied from the Exome Variant Server ABHD1_000033 12791/13006 8598/8600 4193/4406 - - - - - - -
?/? c.436C>G r.(?) p.(Gln146Glu) g.27351973C>G Copied from the Exome Variant Server ABHD1_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.458+44G>A r.(=) p.(=) g.27352039G>A Copied from the Exome Variant Server ABHD1_000035 3/13006 3/8600 0/4406 - - - - - - -
?/? c.458+50T>C r.(=) p.(=) g.27352045T>C Copied from the Exome Variant Server ABHD1_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.459-70T>C r.(=) p.(=) g.27352114T>C Copied from the Exome Variant Server ABHD1_000037 6/4566 6/3182 0/1384 - - - - - - -
?/? c.459-1_479del r.spl? p.? g.27352183_27352204del Copied from the Exome Variant Server ABHD1_000038 1/12520 0/8254 1/4266 - - - - - - -
?/? c.466G>A r.(?) p.(Val156Met) g.27352191G>A Copied from the Exome Variant Server ABHD1_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.486C>T r.(=) p.(=) g.27352211C>T Copied from the Exome Variant Server ABHD1_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.490G>A r.(?) p.(Gly164Arg) g.27352215G>A Copied from the Exome Variant Server ABHD1_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.502C>T r.(?) p.(Arg168Trp) g.27352227C>T Copied from the Exome Variant Server ABHD1_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.504G>T r.(=) p.(=) g.27352229G>T Copied from the Exome Variant Server ABHD1_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.504+1G>C r.spl? p.? g.27352230G>C Copied from the Exome Variant Server ABHD1_000041 8/13006 0/8600 8/4406 - - - - - - -
?/? c.504+19C>T r.(=) p.(=) g.27352248C>T Copied from the Exome Variant Server ABHD1_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.504+27C>T r.(=) p.(=) g.27352256C>T Copied from the Exome Variant Server ABHD1_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.504+36C>T r.(=) p.(=) g.27352265C>T Copied from the Exome Variant Server ABHD1_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.504+43T>C r.(=) p.(=) g.27352272T>C Copied from the Exome Variant Server ABHD1_000048 3/13006 3/8600 0/4406 - - - - - - -
?/? c.504+70_504+72del r.(=) p.(=) g.27352299_27352301del Copied from the Exome Variant Server ABHD1_000049 14/12520 3/8254 11/4266 - - - - - - -
?/? c.504+73_504+76del r.(=) p.(=) g.27352302_27352305del Copied from the Exome Variant Server ABHD1_000050 15/12520 6/8254 9/4266 - - - - - - -
?/? c.505-44G>A r.(=) p.(=) g.27352338G>A Copied from the Exome Variant Server ABHD1_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.505-12G>A r.(=) p.(=) g.27352370G>A Copied from the Exome Variant Server ABHD1_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.541C>T r.(=) p.(=) g.27352418C>T Copied from the Exome Variant Server ABHD1_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.571C>T r.(?) p.(Arg191Cys) g.27352448C>T Copied from the Exome Variant Server ABHD1_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.572G>A r.(?) p.(Arg191His) g.27352449G>A Copied from the Exome Variant Server ABHD1_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.594G>T r.(=) p.(=) g.27352471G>T Copied from the Exome Variant Server ABHD1_000056 20/13006 0/8600 20/4406 - - - - - - -
?/? c.617+3A>G r.spl? p.? g.27352497A>G Copied from the Exome Variant Server ABHD1_000057 3/13006 2/8600 1/4406 - - - - - - -
?/? c.617+40_617+41insT r.(=) p.(=) g.27352534_27352535insT Copied from the Exome Variant Server ABHD1_000058 3/12518 3/8252 0/4266 - - - - - - -
?/? c.618-31_618-28del r.(=) p.(=) g.27352591_27352594del Copied from the Exome Variant Server ABHD1_000059 14/12518 7/8252 7/4266 - - - - - - -
?/? c.618-23T>C r.(=) p.(=) g.27352599T>C Copied from the Exome Variant Server ABHD1_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.618-8T>G r.(=) p.(=) g.27352614T>G Copied from the Exome Variant Server ABHD1_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.619_620insTACT r.(?) p.(Val209Thrfs*29) g.27352623_27352624insTACT Copied from the Exome Variant Server ABHD1_000062 1/12518 1/8252 0/4266 - - - - - - -
?/? c.630G>A r.(=) p.(=) g.27352634G>A Copied from the Exome Variant Server ABHD1_000063 15/13006 2/8600 13/4406 - - - - - - -
?/? c.630_631insA r.(?) p.(Asn211Lysfs*26) g.27352634_27352635insA Copied from the Exome Variant Server ABHD1_000064 1/12518 1/8252 0/4266 - - - - - - -
?/? c.669G>A r.(=) p.(=) g.27352673G>A Copied from the Exome Variant Server ABHD1_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.684G>T r.(=) p.(=) g.27352688G>T Copied from the Exome Variant Server ABHD1_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.723G>A r.(=) p.(=) g.27352727G>A Copied from the Exome Variant Server ABHD1_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.742C>T r.(=) p.(=) g.27352746C>T Copied from the Exome Variant Server ABHD1_000068 2/13006 0/8600 2/4406 - - - - - - -
?/? c.787G>C r.(?) p.(Glu263Gln) g.27352791G>C Copied from the Exome Variant Server ABHD1_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.790C>T r.(?) p.(Arg264*) g.27352794C>T Copied from the Exome Variant Server ABHD1_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.791G>A r.(?) p.(Arg264Gln) g.27352795G>A Copied from the Exome Variant Server ABHD1_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.791+25G>C r.(=) p.(=) g.27352820G>C Copied from the Exome Variant Server ABHD1_000072 2/13006 0/8600 2/4406 - - - - - - -
?/? c.791+26G>A r.(=) p.(=) g.27352821G>A Copied from the Exome Variant Server ABHD1_000073 3/13006 3/8600 0/4406 - - - - - - -
?/? c.791+32G>C r.(=) p.(=) g.27352827G>C Copied from the Exome Variant Server ABHD1_000074 5/13006 5/8600 0/4406 - - - - - - -
?/? c.791+34_791+35insA r.(=) p.(=) g.27352829_27352830insA Copied from the Exome Variant Server ABHD1_000075 1/12518 0/8252 1/4266 - - - - - - -
?/? c.791+36G>C r.(=) p.(=) g.27352831G>C Copied from the Exome Variant Server ABHD1_000076 3/13006 2/8600 1/4406 - - - - - - -
?/? c.791+51C>T r.(=) p.(=) g.27352846C>T Copied from the Exome Variant Server ABHD1_000077 5/13006 5/8600 0/4406 - - - - - - -
?/? c.792-48G>C r.(=) p.(=) g.27352925G>C Copied from the Exome Variant Server ABHD1_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.792-22A>G r.(=) p.(=) g.27352951A>G Copied from the Exome Variant Server ABHD1_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.792del r.(?) p.(Asn265Thrfs*4) g.27352973del Copied from the Exome Variant Server ABHD1_000080 1/12518 1/8252 0/4266 - - - - - - -
?/? c.818T>C r.(?) p.(Val273Ala) g.27352999T>C Copied from the Exome Variant Server ABHD1_000081 2/13006 0/8600 2/4406 - - - - - - -
?/? c.824T>C r.(?) p.(Ile275Thr) g.27353005T>C Copied from the Exome Variant Server ABHD1_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.840+3A>G r.spl? p.? g.27353024A>G Copied from the Exome Variant Server ABHD1_000083 2/13006 2/8600 0/4406 - - - - - - -
?/? c.840+10T>A r.(=) p.(=) g.27353031T>A Copied from the Exome Variant Server ABHD1_000084 2/13006 0/8600 2/4406 - - - - - - -
?/? c.841-47C>A r.(=) p.(=) g.27353072C>A Copied from the Exome Variant Server ABHD1_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.841-36T>C r.(=) p.(=) g.27353083T>C Copied from the Exome Variant Server ABHD1_000086 4/13006 3/8600 1/4406 - - - - - - -
?/? c.841-31A>T r.(=) p.(=) g.27353088A>T Copied from the Exome Variant Server ABHD1_000088 2/13006 2/8600 0/4406 - - - - - - -
?/? c.841-22T>C r.(=) p.(=) g.27353097T>C Copied from the Exome Variant Server ABHD1_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.842C>T r.(?) p.(Ala281Val) g.27353120C>T Copied from the Exome Variant Server ABHD1_000092 2/13006 0/8600 2/4406 - - - - - - -
?/? c.844C>T r.(?) p.(Arg282Cys) g.27353122C>T Copied from the Exome Variant Server ABHD1_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.845G>C r.(?) p.(Arg282Pro) g.27353123G>C Copied from the Exome Variant Server ABHD1_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.853C>T r.(?) p.(Arg285Cys) g.27353131C>T Copied from the Exome Variant Server ABHD1_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.854G>A r.(?) p.(Arg285His) g.27353132G>A Copied from the Exome Variant Server ABHD1_000087 2/13006 0/8600 2/4406 - - - - - - -
?/? c.867G>A r.(=) p.(=) g.27353145G>A Copied from the Exome Variant Server ABHD1_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.901_902del r.(?) p.(Val302Tyrfs*9) g.27353179_27353180del Copied from the Exome Variant Server ABHD1_000091 9/12518 4/8252 5/4266 - - - - - - -
?/? c.904G>A r.(?) p.(Val302Ile) g.27353182G>A Copied from the Exome Variant Server ABHD1_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.913T>C r.(?) p.(Tyr305His) g.27353191T>C Copied from the Exome Variant Server ABHD1_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.941T>C r.(?) p.(Ile314Thr) g.27353219T>C Copied from the Exome Variant Server ABHD1_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.965_968del r.(?) p.(Tyr323Serfs*50) g.27353243_27353246del Copied from the Exome Variant Server ABHD1_000099 9/12518 8/8252 1/4266 - - - - - - -
?/? c.988C>T r.(?) p.(Pro330Ser) g.27353266C>T Copied from the Exome Variant Server ABHD1_000100 8/13006 8/8600 0/4406 - - - - - - -
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