Full data view for gene ABHD2

Information The variants shown are described using the NM_007011.7 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
Legend  

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.-6-38T>A r.(=) p.(=) g.89659515T>A Copied from the Exome Variant Server ABHD2_000001 1/12998 0/8598 1/4400 - - - - - - -
?/? c.-6-37G>A r.(=) p.(=) g.89659516G>A Copied from the Exome Variant Server ABHD2_000002 1/12998 0/8598 1/4400 - - - - - - -
?/? c.-3_-2insT r.(=) p.(=) g.89659556_89659557insT Copied from the Exome Variant Server ABHD2_000003 1/12518 1/8254 0/4264 - - - - - - -
?/? c.37G>A r.(?) p.(Val13Met) g.89659595G>A Copied from the Exome Variant Server ABHD2_000004 1/12998 0/8598 1/4400 - - - - - - -
?/? c.81C>T r.(=) p.(=) g.89659639C>T Copied from the Exome Variant Server ABHD2_000005 112/12998 1/8598 111/4400 - - - - - - -
?/? c.158G>A r.(?) p.(Arg53His) g.89659716G>A Copied from the Exome Variant Server ABHD2_000006 32/12998 0/8598 32/4400 - - - - - - -
?/? c.179C>G r.(?) p.(Pro60Arg) g.89659737C>G Copied from the Exome Variant Server ABHD2_000007 3/12998 0/8598 3/4400 - - - - - - -
?/? c.194+12T>G r.(=) p.(=) g.89659764T>G Copied from the Exome Variant Server ABHD2_000008 2/12998 0/8598 2/4400 - - - - - - -
?/? c.195-32G>T r.(=) p.(=) g.89694876G>T Copied from the Exome Variant Server ABHD2_000009 1/12998 1/8598 0/4400 - - - - - - -
?/? c.195-28A>T r.(=) p.(=) g.89694880A>T Copied from the Exome Variant Server ABHD2_000010 16/12998 0/8598 16/4400 - - - - - - -
?/? c.207G>A r.(=) p.(=) g.89694920G>A Copied from the Exome Variant Server ABHD2_000011 4/12998 4/8598 0/4400 - - - - - - -
?/? c.273G>C r.(=) p.(=) g.89694986G>C Copied from the Exome Variant Server ABHD2_000012 14/12998 0/8598 14/4400 - - - - - - -
?/? c.279T>A r.(?) p.(His93Gln) g.89694992T>A Copied from the Exome Variant Server ABHD2_000013 1/12998 1/8598 0/4400 - - - - - - -
?/? c.289C>T r.(?) p.(His97Tyr) g.89695002C>T Copied from the Exome Variant Server ABHD2_000014 1/12998 0/8598 1/4400 - - - - - - -
?/? c.330A>T r.(=) p.(=) g.89695043A>T Copied from the Exome Variant Server ABHD2_000015 1/12998 1/8598 0/4400 - - - - - - -
?/? c.334G>A r.(?) p.(Asp112Asn) g.89695047G>A Copied from the Exome Variant Server ABHD2_000016 1/12998 1/8598 0/4400 - - - - - - -
?/? c.370+47G>A r.(=) p.(=) g.89695130G>A Copied from the Exome Variant Server ABHD2_000017 3/12998 3/8598 0/4400 - - - - - - -
?/? c.371-43C>G r.(=) p.(=) g.89698555C>G Copied from the Exome Variant Server ABHD2_000018 4/12998 3/8598 1/4400 - - - - - - -
?/? c.371-32G>A r.(=) p.(=) g.89698566G>A Copied from the Exome Variant Server ABHD2_000019 1/12998 1/8598 0/4400 - - - - - - -
?/? c.371-16T>C r.(=) p.(=) g.89698582T>C Copied from the Exome Variant Server ABHD2_000020 1/12998 0/8598 1/4400 - - - - - - -
?/? c.371-8C>T r.(=) p.(=) g.89698590C>T Copied from the Exome Variant Server ABHD2_000021 3/12998 0/8598 3/4400 - - - - - - -
?/? c.371-7G>C r.(=) p.(=) g.89698591G>C Copied from the Exome Variant Server ABHD2_000022 59/12998 0/8598 59/4400 - - - - - - -
?/? c.371-3T>C r.spl? p.? g.89698595T>C Copied from the Exome Variant Server ABHD2_000023 1/12998 0/8598 1/4400 - - - - - - -
?/? c.474C>T r.(=) p.(=) g.89698701C>T Copied from the Exome Variant Server ABHD2_000024 59/12998 0/8598 59/4400 - - - - - - -
?/? c.475G>A r.(?) p.(Val159Met) g.89698702G>A Copied from the Exome Variant Server ABHD2_000025 1/12998 1/8598 0/4400 - - - - - - -
?/? c.511T>C r.(=) p.(=) g.89698738T>C Copied from the Exome Variant Server ABHD2_000026 1/12998 1/8598 0/4400 - - - - - - -
?/? c.519G>A r.(=) p.(=) g.89698746G>A Copied from the Exome Variant Server ABHD2_000027 1/12998 0/8598 1/4400 - - - - - - -
?/? c.528G>A r.(?) p.(Met176Ile) g.89698755G>A Copied from the Exome Variant Server ABHD2_000028 1/12998 1/8598 0/4400 - - - - - - -
?/? c.538+21T>C r.(=) p.(=) g.89698786T>C Copied from the Exome Variant Server ABHD2_000029 13/12998 0/8598 13/4400 - - - - - - -
?/? c.538+39G>C r.(=) p.(=) g.89698804G>C Copied from the Exome Variant Server ABHD2_000030 1/12998 1/8598 0/4400 - - - - - - -
?/? c.539-49G>C r.(=) p.(=) g.89718994G>C Copied from the Exome Variant Server ABHD2_000031 2/12998 2/8598 0/4400 - - - - - - -
?/? c.539-20T>G r.(=) p.(=) g.89719023T>G Copied from the Exome Variant Server ABHD2_000032 1/12998 1/8598 0/4400 - - - - - - -
?/? c.539-15C>T r.(=) p.(=) g.89719028C>T Copied from the Exome Variant Server ABHD2_000033 1/12998 1/8598 0/4400 - - - - - - -
?/? c.546G>A r.(=) p.(=) g.89719050G>A Copied from the Exome Variant Server ABHD2_000034 6/12998 0/8598 6/4400 - - - - - - -
?/? c.583A>G r.(?) p.(Thr195Ala) g.89719087A>G Copied from the Exome Variant Server ABHD2_000035 1/12998 0/8598 1/4400 - - - - - - -
?/? c.609C>A r.(=) p.(=) g.89719113C>A Copied from the Exome Variant Server ABHD2_000036 8/12998 0/8598 8/4400 - - - - - - -
?/? c.682C>G r.(?) p.(Leu228Val) g.89719186C>G Copied from the Exome Variant Server ABHD2_000037 1/12998 1/8598 0/4400 - - - - - - -
?/? c.697G>C r.(?) p.(Val233Leu) g.89719201G>C Copied from the Exome Variant Server ABHD2_000038 1/12998 0/8598 1/4400 - - - - - - -
?/? c.699G>A r.(=) p.(=) g.89719203G>A Copied from the Exome Variant Server ABHD2_000039 1/12998 0/8598 1/4400 - - - - - - -
?/? c.723-43_723-42insC r.(=) p.(=) g.89728612_89728613insC Copied from the Exome Variant Server ABHD2_000040 2/12518 0/8254 2/4264 - - - - - - -
?/? c.723-32G>A r.(=) p.(=) g.89728623G>A Copied from the Exome Variant Server ABHD2_000041 1/12998 0/8598 1/4400 - - - - - - -
?/? c.723-13G>C r.(=) p.(=) g.89728642G>C Copied from the Exome Variant Server ABHD2_000042 1/12998 1/8598 0/4400 - - - - - - -
?/? c.723-7C>T r.(=) p.(=) g.89728648C>T Copied from the Exome Variant Server ABHD2_000043 1/12998 1/8598 0/4400 - - - - - - -
?/? c.744A>G r.(=) p.(=) g.89728676A>G Copied from the Exome Variant Server ABHD2_000044 1/12998 0/8598 1/4400 - - - - - - -
?/? c.757C>T r.(?) p.(Arg253Trp) g.89728689C>T Copied from the Exome Variant Server ABHD2_000045 1/12998 0/8598 1/4400 - - - - - - -
?/? c.815+14C>T r.(=) p.(=) g.89728761C>T Copied from the Exome Variant Server ABHD2_000046 1/12998 1/8598 0/4400 - - - - - - -
?/? c.815+15G>A r.(=) p.(=) g.89728762G>A Copied from the Exome Variant Server ABHD2_000047 1/12998 1/8598 0/4400 - - - - - - -
?/? c.815+56_815+57insA r.(=) p.(=) g.89728803_89728804insA Copied from the Exome Variant Server ABHD2_000048 1/12518 1/8254 0/4264 - - - - - - -
?/? c.816-24_816-21del r.(=) p.(=) g.89731400_89731403del Copied from the Exome Variant Server ABHD2_000049 24/12518 14/8254 10/4264 - - - - - - -
?/? c.820G>A r.(?) p.(Ala274Thr) g.89731428G>A Copied from the Exome Variant Server ABHD2_000050 20/12998 0/8598 20/4400 - - - - - - -
?/? c.841A>G r.(?) p.(Lys281Glu) g.89731449A>G Copied from the Exome Variant Server ABHD2_000051 1/12998 1/8598 0/4400 - - - - - - -
?/? c.847C>G r.(?) p.(Pro283Ala) g.89731455C>G Copied from the Exome Variant Server ABHD2_000052 1/12998 1/8598 0/4400 - - - - - - -
?/? c.855C>G r.(?) p.(Ser285Arg) g.89731463C>G Copied from the Exome Variant Server ABHD2_000053 1/12998 0/8598 1/4400 - - - - - - -
?/? c.926+9G>T r.(=) p.(=) g.89731543G>T Copied from the Exome Variant Server ABHD2_000054 19/12998 0/8598 19/4400 - - - - - - -
?/? c.926+30T>G r.(=) p.(=) g.89731564T>G Copied from the Exome Variant Server ABHD2_000055 629/12998 5/8598 624/4400 - - - - - - -
?/? c.927-49G>C r.(=) p.(=) g.89734262G>C Copied from the Exome Variant Server ABHD2_000056 1/12998 1/8598 0/4400 - - - - - - -
?/? c.936C>T r.(=) p.(=) g.89734320C>T Copied from the Exome Variant Server ABHD2_000057 130/12998 1/8598 129/4400 - - - - - - -
?/? c.940T>C r.(?) p.(Tyr314His) g.89734324T>C Copied from the Exome Variant Server ABHD2_000058 1/12998 1/8598 0/4400 - - - - - - -
?/? c.956A>T r.(?) p.(Glu319Val) g.89734340A>T Copied from the Exome Variant Server ABHD2_000059 1/12998 1/8598 0/4400 - - - - - - -
?/? c.996+15C>T r.(=) p.(=) g.89734395C>T Copied from the Exome Variant Server ABHD2_000060 237/12998 0/8598 237/4400 - - - - - - -
?/? c.996+16G>A r.(=) p.(=) g.89734396G>A Copied from the Exome Variant Server ABHD2_000061 369/12998 329/8598 40/4400 - - - - - - -
?/? c.996+29G>C r.(=) p.(=) g.89734409G>C Copied from the Exome Variant Server ABHD2_000062 3/12998 3/8598 0/4400 - - - - - - -
?/? c.996+35C>T r.(=) p.(=) g.89734415C>T Copied from the Exome Variant Server ABHD2_000063 1/12998 1/8598 0/4400 - - - - - - -
?/? c.1028C>T r.(?) p.(Ala343Val) g.89736497C>T Copied from the Exome Variant Server ABHD2_000064 1/12998 0/8598 1/4400 - - - - - - -
?/? c.1032C>T r.(=) p.(=) g.89736501C>T Copied from the Exome Variant Server ABHD2_000065 41/12998 1/8598 40/4400 - - - - - - -
?/? c.1038G>A r.(=) p.(=) g.89736507G>A Copied from the Exome Variant Server ABHD2_000066 1/12998 0/8598 1/4400 - - - - - - -
?/? c.1081+8T>C r.(=) p.(=) g.89736558T>C Copied from the Exome Variant Server ABHD2_000067 5112/12998 3525/8598 1587/4400 - - - - - - -
?/? c.1081+48C>T r.(=) p.(=) g.89736598C>T Copied from the Exome Variant Server ABHD2_000068 1/12998 1/8598 0/4400 - - - - - - -
?/? c.1082-50C>T r.(=) p.(=) g.89738408C>T Copied from the Exome Variant Server ABHD2_000069 1/12998 0/8598 1/4400 - - - - - - -
?/? c.1099A>C r.(?) p.(Met367Leu) g.89738475A>C Copied from the Exome Variant Server ABHD2_000070 16/12998 0/8598 16/4400 - - - - - - -
?/? c.1128C>T r.(=) p.(=) g.89738504C>T Copied from the Exome Variant Server ABHD2_000071 6/12998 0/8598 6/4400 - - - - - - -
?/? c.1161C>T r.(=) p.(=) g.89738537C>T Copied from the Exome Variant Server ABHD2_000072 2/12998 2/8598 0/4400 - - - - - - -
?/? c.1162G>A r.(?) p.(Glu388Lys) g.89738538G>A Copied from the Exome Variant Server ABHD2_000073 4/12998 0/8598 4/4400 - - - - - - -
?/? c.1200C>T r.(=) p.(=) g.89738576C>T Copied from the Exome Variant Server ABHD2_000074 55/12998 47/8598 8/4400 - - - - - - -
?/? c.1207G>A r.(?) p.(Ala403Thr) g.89738583G>A Copied from the Exome Variant Server ABHD2_000075 1/12998 1/8598 0/4400 - - - - - - -
?/? c.1226G>A r.(?) p.(Arg409His) g.89738602G>A Copied from the Exome Variant Server ABHD2_000076 1/12998 1/8598 0/4400 - - - - - - -
?/? c.1226_1227insT r.(?) p.(Asn410*) g.89738602_89738603insT Copied from the Exome Variant Server ABHD2_000077 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1251G>C r.(=) p.(=) g.89738627G>C Copied from the Exome Variant Server ABHD2_000078 6/12998 4/8598 2/4400 - - - - - - -
?/? c.1260G>A r.(=) p.(=) g.89738636G>A Copied from the Exome Variant Server ABHD2_000079 322/12998 6/8598 316/4400 - - - - - - -
?/? c.1267G>A r.(?) p.(Asp423Asn) g.89738643G>A Copied from the Exome Variant Server ABHD2_000080 1/12998 1/8598 0/4400 - - - - - - -
?/? c.*4C>T r.(=) p.(=) g.89738658C>T Copied from the Exome Variant Server ABHD2_000081 4/12998 0/8598 4/4400 - - - - - - -
?/? c.*8G>A r.(=) p.(=) g.89738662G>A Copied from the Exome Variant Server ABHD2_000082 2/12996 1/8596 1/4400 - - - - - - -
?/? c.*23C>A r.(=) p.(=) g.89738677C>A Copied from the Exome Variant Server ABHD2_000083 1/12998 0/8598 1/4400 - - - - - - -
?/? c.*32C>G r.(=) p.(=) g.89738686C>G Copied from the Exome Variant Server ABHD2_000084 1/12998 0/8598 1/4400 - - - - - - -
?/? c.*48G>T r.(=) p.(=) g.89738702G>T Copied from the Exome Variant Server ABHD2_000085 2/12996 0/8598 2/4398 - - - - - - -
Legend