Full data view for gene ABHD12

Information The variants shown are described using the NM_015600.4 transcript reference sequence.

130 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.-40_-39insGGCGGAGGC r.(=) p.(=) g.25371378_25371379insGCCTCCGCC Copied from the Exome Variant Server ABHD12_000100 328/760 241/572 87/188 - - - - - - -
?/? c.-38del r.(=) p.(=) g.25371377del Copied from the Exome Variant Server ABHD12_000099 33/874 16/666 17/208 - - - - - - -
?/? c.191+37del r.(=) p.(=) g.25371112del Copied from the Exome Variant Server ABHD12_000098 2463/2474 1740/1746 723/728 - - - - - - -
?/? c.192-363C>G r.(=) p.(=) g.25320350G>C Copied from the Exome Variant Server ABHD12_000097 1/5732 1/3980 0/1752 - - - - - - -
?/? c.192-362C>T r.(=) p.(=) g.25320349G>A Copied from the Exome Variant Server ABHD12_000096 3/5732 0/3980 3/1752 - - - - - - -
?/? c.192-286G>A r.(=) p.(=) g.25320273C>T Copied from the Exome Variant Server ABHD12_000095 1/5734 1/3982 0/1752 - - - - - - -
?/? c.192-241A>T r.(=) p.(=) g.25320228T>A Copied from the Exome Variant Server ABHD12_000094 3352/5734 2250/3982 1102/1752 - - - - - - -
?/? c.192-227A>G r.(=) p.(=) g.25320214T>C Copied from the Exome Variant Server ABHD12_000093 2/5734 0/3982 2/1752 - - - - - - -
?/? c.192-42C>T r.(=) p.(=) g.25320029G>A Copied from the Exome Variant Server ABHD12_000092 2/13006 1/8600 1/4406 - - - - - - -
?/? c.202G>A r.(?) p.(Val68Met) g.25319977C>T Copied from the Exome Variant Server ABHD12_000091 90/13006 2/8600 88/4406 - - - - - - -
?/? c.203T>C r.(?) p.(Val68Ala) g.25319976A>G Copied from the Exome Variant Server ABHD12_000090 6/13006 5/8600 1/4406 - - - - - - -
?/? c.211C>T r.(?) p.(Arg71Cys) g.25319968G>A Copied from the Exome Variant Server ABHD12_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.276A>G r.(=) p.(=) g.25319903T>C Copied from the Exome Variant Server ABHD12_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.315C>T r.(=) p.(=) g.25319864G>A Copied from the Exome Variant Server ABHD12_000087 3/13006 0/8600 3/4406 - - - - - - -
?/? c.316G>A r.(?) p.(Val106Ile) g.25319863C>T Copied from the Exome Variant Server ABHD12_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.316+12G>A r.(=) p.(=) g.25319851C>T Copied from the Exome Variant Server ABHD12_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.317-45T>C r.(=) p.(=) g.25304111A>G Copied from the Exome Variant Server ABHD12_000084 314/13006 5/8600 309/4406 - - - - - - -
?/? c.317-13_317-12del r.(=) p.(=) g.25304078_25304079del Copied from the Exome Variant Server ABHD12_000083 1/12518 0/8254 1/4264 - - - - - - -
?/? c.334A>T r.(?) p.(Ile112Phe) g.25304049T>A Copied from the Exome Variant Server ABHD12_000082 2/13006 2/8600 0/4406 - - - - - - -
?/? c.385T>C r.(?) p.(Tyr129His) g.25303998A>G Copied from the Exome Variant Server ABHD12_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.405C>A r.(?) p.(Asp135Glu) g.25303978G>T Copied from the Exome Variant Server ABHD12_000080 13/13006 0/8600 13/4406 - - - - - - -
?/? c.422+29C>T r.(=) p.(=) g.25303932G>A Copied from the Exome Variant Server ABHD12_000079 784/13006 717/8600 67/4406 - - - - - - -
?/? c.422+46C>T r.(=) p.(=) g.25303915G>A Copied from the Exome Variant Server ABHD12_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.422+52A>G r.(=) p.(=) g.25303909T>C Copied from the Exome Variant Server ABHD12_000077 1/5734 1/3982 0/1752 - - - - - - -
?/? c.423-42del r.(=) p.(=) g.25300996del Copied from the Exome Variant Server ABHD12_000076 1/12518 1/8254 0/4264 - - - - - - -
?/? c.453C>T r.(=) p.(=) g.25300924G>A Copied from the Exome Variant Server ABHD12_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.524A>G r.(?) p.(His175Arg) g.25300853T>C Copied from the Exome Variant Server ABHD12_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.532G>A r.(?) p.(Ala178Thr) g.25300845C>T Copied from the Exome Variant Server ABHD12_000073 3/13006 2/8600 1/4406 - - - - - - -
?/? c.542+10A>G r.(=) p.(=) g.25300825T>C Copied from the Exome Variant Server ABHD12_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.542+20C>G r.(=) p.(=) g.25300815G>C Copied from the Exome Variant Server ABHD12_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.543-47C>A r.(=) p.(=) g.25297761G>T Copied from the Exome Variant Server ABHD12_000070 5/13006 0/8600 5/4406 - - - - - - -
?/? c.547G>A r.(?) p.(Gly183Ser) g.25297710C>T Copied from the Exome Variant Server ABHD12_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.549C>T r.(=) p.(=) g.25297708G>A Copied from the Exome Variant Server ABHD12_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.550G>A r.(?) p.(Asp184Asn) g.25297707C>T Copied from the Exome Variant Server ABHD12_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.559G>A r.(?) p.(Val187Met) g.25297698C>T Copied from the Exome Variant Server ABHD12_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.573+19C>A r.(=) p.(=) g.25297665G>T Copied from the Exome Variant Server ABHD12_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.573+21C>T r.(=) p.(=) g.25297663G>A Copied from the Exome Variant Server ABHD12_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.573+30C>T r.(=) p.(=) g.25297654G>A Copied from the Exome Variant Server ABHD12_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.573+39T>C r.(=) p.(=) g.25297645A>G Copied from the Exome Variant Server ABHD12_000062 18/13006 1/8600 17/4406 - - - - - - -
?/? c.573+44T>C r.(=) p.(=) g.25297640A>G Copied from the Exome Variant Server ABHD12_000061 134/13006 121/8600 13/4406 - - - - - - -
?/? c.573+45C>T r.(=) p.(=) g.25297639G>A Copied from the Exome Variant Server ABHD12_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.574-32G>C r.(=) p.(=) g.25295638C>G Copied from the Exome Variant Server ABHD12_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.619+19G>A r.(=) p.(=) g.25295542C>T Copied from the Exome Variant Server ABHD12_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.620-51G>T r.(=) p.(=) g.25290262C>A Copied from the Exome Variant Server ABHD12_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.620-45G>A r.(=) p.(=) g.25290256C>T Copied from the Exome Variant Server ABHD12_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.620-24C>T r.(=) p.(=) g.25290235G>A Copied from the Exome Variant Server ABHD12_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.620-23G>A r.(=) p.(=) g.25290234C>T Copied from the Exome Variant Server ABHD12_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.620-3C>T r.spl? p.? g.25290214G>A Copied from the Exome Variant Server ABHD12_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.641C>T r.(?) p.(Thr214Met) g.25290190G>A Copied from the Exome Variant Server ABHD12_000052 3/13006 0/8600 3/4406 - - - - - - -
?/? c.707G>T r.(?) p.(Gly236Val) g.25290124C>A Copied from the Exome Variant Server ABHD12_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.750-46A>G r.(=) p.(=) g.25289176T>C Copied from the Exome Variant Server ABHD12_000050 1/12996 1/8594 0/4402 - - - - - - -
?/? c.750-18G>A r.(=) p.(=) g.25289148C>T Copied from the Exome Variant Server ABHD12_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.769C>T r.(?) p.(Arg257Trp) g.25289111G>A Copied from the Exome Variant Server ABHD12_000048 17/13006 16/8600 1/4406 - - - - - - -
?/? c.772C>T r.(?) p.(Arg258Cys) g.25289108G>A Copied from the Exome Variant Server ABHD12_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.783G>T r.(?) p.(Glu261Asp) g.25289097C>A Copied from the Exome Variant Server ABHD12_000046 1/13004 1/8600 0/4404 - - - - - - -
?/? c.787+3G>A r.spl? p.? g.25289090C>T Copied from the Exome Variant Server ABHD12_000045 3/13004 3/8600 0/4404 - - - - - - -
?/? c.787+60G>A r.(=) p.(=) g.25289033C>T Copied from the Exome Variant Server ABHD12_000044 11/4566 0/3182 11/1384 - - - - - - -
?/? c.787+80G>T r.(=) p.(=) g.25289013C>A Copied from the Exome Variant Server ABHD12_000043 61/4566 58/3182 3/1384 - - - - - - -
?/? c.788-45C>T r.(=) p.(=) g.25288726G>A Copied from the Exome Variant Server ABHD12_000042 9/13006 0/8600 9/4406 - - - - - - -
?/? c.788-11T>G r.(=) p.(=) g.25288692A>C Copied from the Exome Variant Server ABHD12_000041 4/13006 0/8600 4/4406 - - - - - - -
?/? c.788-10_788-7del r.(=) p.(=) g.25288688_25288691del Copied from the Exome Variant Server ABHD12_000040 23/12518 0/8254 23/4264 - - - - - - -
?/? c.804C>T r.(=) p.(=) g.25288665G>A Copied from the Exome Variant Server ABHD12_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.835C>T r.(?) p.(Arg279Cys) g.25288634G>A Copied from the Exome Variant Server ABHD12_000038 2/13006 1/8600 1/4406 - - - - - - -
?/? c.837C>T r.(=) p.(=) g.25288632G>A Copied from the Exome Variant Server ABHD12_000037 5653/13006 4470/8600 1183/4406 - - - - - - -
?/? c.858A>C r.(=) p.(=) g.25288611T>G Copied from the Exome Variant Server ABHD12_000036 2/13006 2/8600 0/4406 - - - - - - -
?/? c.867+25T>A r.(=) p.(=) g.25288577A>T Copied from the Exome Variant Server ABHD12_000035 17/12984 14/8592 3/4392 - - - - - - -
?/? c.867+43A>G r.(=) p.(=) g.25288559T>C Copied from the Exome Variant Server ABHD12_000034 1/12766 1/8464 0/4302 - - - - - - -
?/? c.868-32G>T r.(=) p.(=) g.25287583C>A Copied from the Exome Variant Server ABHD12_000033 9/13006 0/8600 9/4406 - - - - - - -
?/? c.884C>T r.(?) p.(Pro295Leu) g.25287535G>A Copied from the Exome Variant Server ABHD12_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.951-18C>G r.(=) p.(=) g.25284282G>C Copied from the Exome Variant Server ABHD12_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.951-13C>G r.(=) p.(=) g.25284277G>C Copied from the Exome Variant Server ABHD12_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.951-9del r.(=) p.(=) g.25284273del Copied from the Exome Variant Server ABHD12_000029 3/12518 0/8254 3/4264 - - - - - - -
?/? c.952G>A r.(?) p.(Val318Met) g.25284263C>T Copied from the Exome Variant Server ABHD12_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.960C>T r.(=) p.(=) g.25284255G>A Copied from the Exome Variant Server ABHD12_000027 5/13006 4/8600 1/4406 - - - - - - -
?/? c.967T>C r.(?) p.(Cys323Arg) g.25284248A>G Copied from the Exome Variant Server ABHD12_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.974T>G r.(?) p.(Leu325Arg) g.25284241A>C Copied from the Exome Variant Server ABHD12_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.975G>A r.(=) p.(=) g.25284240C>T Copied from the Exome Variant Server ABHD12_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1018C>T r.(?) p.(Leu340Phe) g.25284197G>A Copied from the Exome Variant Server ABHD12_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1029+10G>C r.(=) p.(=) g.25284176C>G Copied from the Exome Variant Server ABHD12_000022 3/13004 0/8600 3/4404 - - - - - - -
?/? c.1041C>T r.(=) p.(=) g.25282971G>A Copied from the Exome Variant Server ABHD12_000021 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1044C>T r.(=) p.(=) g.25282968G>A Copied from the Exome Variant Server ABHD12_000020 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1045G>A r.(?) p.(Ala349Thr) g.25282967C>T Copied from the Exome Variant Server ABHD12_000019 555/13006 502/8600 53/4406 - - - - - - -
?/? c.1049C>T r.(?) p.(Pro350Leu) g.25282963G>A Copied from the Exome Variant Server ABHD12_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1064G>A r.(?) p.(Arg355Gln) g.25282948C>T Copied from the Exome Variant Server ABHD12_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1068T>C r.(=) p.(=) g.25282944A>G Copied from the Exome Variant Server ABHD12_000016 5741/13006 3754/8600 1987/4406 - - - - - - -
?/? c.1083T>C r.(=) p.(=) g.25282929A>G Copied from the Exome Variant Server ABHD12_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1113G>A r.(=) p.(=) g.25282899C>T Copied from the Exome Variant Server ABHD12_000014 22/13006 0/8600 22/4406 - - - - - - -
?/? c.1138G>T r.(?) p.(Glu380*) g.25282874C>A Copied from the Exome Variant Server ABHD12_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1141C>T r.(=) p.(=) g.25282871G>A Copied from the Exome Variant Server ABHD12_000012 29/13006 1/8600 28/4406 - - - - - - -
?/? c.1148G>A r.(?) p.(Arg383Gln) g.25282864C>T Copied from the Exome Variant Server ABHD12_000011 8/13006 0/8600 8/4406 - - - - - - -
?/? c.1152A>G r.(?) p.(Ile384Met) g.25282860T>C Copied from the Exome Variant Server ABHD12_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1157+32G>A r.(=) p.(=) g.25282823C>T Copied from the Exome Variant Server ABHD12_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1157+34C>T r.(=) p.(=) g.25282821G>A Copied from the Exome Variant Server ABHD12_000008 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1157+1289T>G r.(=) p.(=) g.25281566A>C Copied from the Exome Variant Server ABHD12_000007 1/12726 1/8490 0/4236 - - - - - - -
?/? c.1157+1294C>A r.(=) p.(=) g.25281561G>T Copied from the Exome Variant Server ABHD12_000006 1/12724 0/8488 1/4236 - - - - - - -
?/? c.1157+1311G>C r.(=) p.(=) g.25281544C>G Copied from the Exome Variant Server ABHD12_000005 2/12686 0/8480 2/4206 - - - - - - -
?/? c.1157+1349A>G r.(=) p.(=) g.25281506T>C Copied from the Exome Variant Server ABHD12_000004 1/12606 0/8428 1/4178 - - - - - - -
?/? c.1157+1353G>A r.(=) p.(=) g.25281502C>T Copied from the Exome Variant Server ABHD12_000003 4/12598 0/8424 4/4174 - - - - - - -
?/? c.1157+1396A>G r.(=) p.(=) g.25281459T>C Copied from the Exome Variant Server ABHD12_000002 4/12526 3/8398 1/4128 - - - - - - -
?/? c.1157+1440C>T r.(=) p.(=) g.25281415G>A Copied from the Exome Variant Server ABHD12_000001 1/4566 1/3182 0/1384 - - - - - - -
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