Unique variants in gene ABHD16A

Information The variants shown are described using the NM_001177515.1 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-519G>A r.(=) p.(=) g.31671064C>T Copied from the Exome Variant Server ABHD16A_000096 3/12682 3/8454 0/4228
1 c.-516G>T r.(=) p.(=) g.31671061C>A Copied from the Exome Variant Server ABHD16A_000095 1/12790 0/8492 1/4298
1 c.-459G>A r.(=) p.(=) g.31671004C>T Copied from the Exome Variant Server ABHD16A_000094 1/13006 1/8600 0/4406
1 c.-443G>C r.(=) p.(=) g.31670988C>G Copied from the Exome Variant Server ABHD16A_000093 1/13006 0/8600 1/4406
1 c.-437C>T r.(=) p.(=) g.31670982G>A Copied from the Exome Variant Server ABHD16A_000092 3/13006 3/8600 0/4406
1 c.-429G>C r.(=) p.(=) g.31670974C>G Copied from the Exome Variant Server ABHD16A_000091 1/13006 0/8600 1/4406
1 c.158-251G>T r.(=) p.(=) g.31669056C>A Copied from the Exome Variant Server ABHD16A_000090 1/13006 1/8600 0/4406
1 c.158-230A>G r.(=) p.(=) g.31669035T>C Copied from the Exome Variant Server ABHD16A_000089 8/13006 6/8600 2/4406
1 c.158-215C>G r.(=) p.(=) g.31669020G>C Copied from the Exome Variant Server ABHD16A_000088 1/13006 1/8600 0/4406
1 c.158-36C>T N/A N/A g.31668841G>A Copied from the Exome Variant Server ABHD16A_000087 1/13006 1/8600 0/4406
1 c.158-35G>A N/A N/A g.31668840C>T Copied from the Exome Variant Server ABHD16A_000086 1/13006 0/8600 1/4406
1 c.161A>G r.(?) p.(Tyr54Cys) g.31668802T>C Copied from the Exome Variant Server ABHD16A_000085 1/13006 1/8600 0/4406
1 c.244+34_244+35del r.(=) p.(=) g.31668684_31668685del Copied from the Exome Variant Server ABHD16A_000084 38/12518 30/8254 8/4264
1 c.245-42T>A r.(=) p.(=) g.31664852A>T Copied from the Exome Variant Server ABHD16A_000083 6/8434 1/5416 5/3018
1 c.245-4C>T r.spl? p.? g.31664814G>A Copied from the Exome Variant Server ABHD16A_000081 1/8438 1/5418 0/3020
1 c.254G>A r.(?) p.(Arg85His) g.31664801C>T Copied from the Exome Variant Server ABHD16A_000079 1/8436 1/5418 0/3018
1 c.275G>A r.(?) p.(Arg92Gln) g.31664780C>T Copied from the Exome Variant Server ABHD16A_000077 2/8440 2/5418 0/3022
1 c.305A>G r.(?) p.(His102Arg) g.31664750T>C Copied from the Exome Variant Server ABHD16A_000075 1/8438 1/5418 0/3020
1 c.307C>T r.(?) p.(Arg103Trp) g.31664748G>A Copied from the Exome Variant Server ABHD16A_000073 6/8438 6/5418 0/3020
1 c.331-44C>T r.(=) p.(=) g.31661253G>A Copied from the Exome Variant Server ABHD16A_000071 1/8434 1/5416 0/3018
1 c.331-13G>A r.(=) p.(=) g.31661222C>T Copied from the Exome Variant Server ABHD16A_000069 1/8438 1/5418 0/3020
1 c.405-51C>T r.(=) p.(=) g.31660977G>A Copied from the Exome Variant Server ABHD16A_000082 1/12998 0/8596 1/4402
1 c.433C>T r.(?) p.(Arg145Trp) g.31660898G>A Copied from the Exome Variant Server ABHD16A_000080 3/13006 0/8600 3/4406
1 c.452G>T r.(?) p.(Arg151Leu) g.31660879C>A Copied from the Exome Variant Server ABHD16A_000078 15/13006 14/8600 1/4406
1 c.462C>T r.(=) p.(=) g.31660869G>A Copied from the Exome Variant Server ABHD16A_000076 1/13006 0/8600 1/4406
1 c.469C>T r.(?) p.(Arg157Trp) g.31660862G>A Copied from the Exome Variant Server ABHD16A_000074 6/13006 1/8600 5/4406
1 c.483C>T r.(=) p.(=) g.31660848G>A Copied from the Exome Variant Server ABHD16A_000072 190/13006 163/8600 27/4406
1 c.527+9C>T r.(=) p.(=) g.31660795G>A Copied from the Exome Variant Server ABHD16A_000070 3/13006 1/8600 2/4406
1 c.527+15C>T r.(=) p.(=) g.31660789G>A Copied from the Exome Variant Server ABHD16A_000068 2/13006 0/8600 2/4406
1 c.527+51G>C r.(=) p.(=) g.31660753C>G Copied from the Exome Variant Server ABHD16A_000067 1/13006 0/8600 1/4406
1 c.528-47C>T r.(=) p.(=) g.31659742G>A Copied from the Exome Variant Server ABHD16A_000066 12/8410 11/5408 1/3002
1 c.528-36A>C r.(=) p.(=) g.31659731T>G Copied from the Exome Variant Server ABHD16A_000065 3071/8424 1438/5416 1633/3008
1 c.528-14T>C r.(=) p.(=) g.31659709A>G Copied from the Exome Variant Server ABHD16A_000064 1/8430 0/5416 1/3014
1 c.535G>A r.(?) p.(Val179Met) g.31659688C>T Copied from the Exome Variant Server ABHD16A_000063 1/8432 1/5418 0/3014
1 c.540G>A r.(=) p.(=) g.31659683C>T Copied from the Exome Variant Server ABHD16A_000062 10/8432 8/5418 2/3014
1 c.556C>T r.(?) p.(Arg186Trp) g.31659667G>A Copied from the Exome Variant Server ABHD16A_000061 1/8432 0/5418 1/3014
1 c.643-44C>A r.(=) p.(=) g.31659501G>T Copied from the Exome Variant Server ABHD16A_000060 1/8426 0/5412 1/3014
1 c.643-30C>A r.(=) p.(=) g.31659487G>T Copied from the Exome Variant Server ABHD16A_000059 9/8428 7/5414 2/3014
1 c.643-24G>A r.(=) p.(=) g.31659481C>T Copied from the Exome Variant Server ABHD16A_000058 1/8430 0/5416 1/3014
1 c.643-16C>T r.(=) p.(=) g.31659473G>A Copied from the Exome Variant Server ABHD16A_000057 2/8434 0/5418 2/3016
1 c.643-9C>T r.(=) p.(=) g.31659466G>A Copied from the Exome Variant Server ABHD16A_000056 1/8434 1/5418 0/3016
1 c.643-8G>A r.(=) p.(=) g.31659465C>T Copied from the Exome Variant Server ABHD16A_000055 184/8434 2/5418 182/3016
1 c.643T>A r.(?) p.(Cys215Ser) g.31659457A>T Copied from the Exome Variant Server ABHD16A_000054 5/8438 0/5418 5/3020
1 c.646A>G r.(?) p.(Asn216Asp) g.31659454T>C Copied from the Exome Variant Server ABHD16A_000053 44/8438 0/5418 44/3020
1 c.655C>A r.(=) p.(=) g.31659445G>T Copied from the Exome Variant Server ABHD16A_000052 1/8438 1/5418 0/3020
1 c.744+49G>A r.(=) p.(=) g.31659307C>T Copied from the Exome Variant Server ABHD16A_000051 1/8436 1/5414 0/3022
1 c.745-4C>T r.spl? p.? g.31658383G>A Copied from the Exome Variant Server ABHD16A_000050 34/8430 2/5414 32/3016
1 c.771G>A r.(=) p.(=) g.31658353C>T Copied from the Exome Variant Server ABHD16A_000049 1/8436 1/5418 0/3018
1 c.797C>T r.(?) p.(Thr266Met) g.31658327G>A Copied from the Exome Variant Server ABHD16A_000048 1/8436 1/5418 0/3018
1 c.809-44C>T r.(=) p.(=) g.31657948G>A Copied from the Exome Variant Server ABHD16A_000047 1/8436 1/5416 0/3020
1 c.809-20C>T r.(=) p.(=) g.31657924G>A Copied from the Exome Variant Server ABHD16A_000046 756/8436 169/5416 587/3020
1 c.809-12C>T r.(=) p.(=) g.31657916G>A Copied from the Exome Variant Server ABHD16A_000045 1/8436 0/5416 1/3020
1 c.857C>T r.(?) p.(Thr286Met) g.31657856G>A Copied from the Exome Variant Server ABHD16A_000044 1/8440 1/5418 0/3022
1 c.873G>A r.(=) p.(=) g.31657467C>T Copied from the Exome Variant Server ABHD16A_000043 10/8436 0/5416 10/3020
1 c.892A>G r.(?) p.(Met298Val) g.31657448T>C Copied from the Exome Variant Server ABHD16A_000042 1/8438 1/5416 0/3022
1 c.922C>T r.(?) p.(Arg308Cys) g.31657418G>A Copied from the Exome Variant Server ABHD16A_000041 1/8438 1/5418 0/3020
1 c.927A>G r.(=) p.(=) g.31657413T>C Copied from the Exome Variant Server ABHD16A_000040 6110/8438 4028/5418 2082/3020
1 c.941A>G r.(?) p.(Gln314Arg) g.31657399T>C Copied from the Exome Variant Server ABHD16A_000039 2/8436 1/5416 1/3020
1 c.958G>T r.(?) p.(Ala320Ser) g.31657382C>A Copied from the Exome Variant Server ABHD16A_000038 1/8434 1/5416 0/3018
1 c.987G>A r.(=) p.(=) g.31656892C>T Copied from the Exome Variant Server ABHD16A_000037 2/13006 0/8600 2/4406
1 c.1031A>T r.(?) p.(Asp344Val) g.31656848T>A Copied from the Exome Variant Server ABHD16A_000036 1/13006 1/8600 0/4406
1 c.1052T>C r.(?) p.(Val351Ala) g.31656827A>G Copied from the Exome Variant Server ABHD16A_000035 1/13006 0/8600 1/4406
1 c.1068G>A r.(=) p.(=) g.31656811C>T Copied from the Exome Variant Server ABHD16A_000034 1/13006 1/8600 0/4406
1 c.1086del r.(?) p.(Trp362*) g.31656793del Copied from the Exome Variant Server ABHD16A_000032 1/12518 0/8254 1/4264
1 c.1088-3del r.spl? p.? g.31656566del Copied from the Exome Variant Server ABHD16A_000030 124/10872 111/7168 13/3704
1 c.1092C>T r.(=) p.(=) g.31656559G>A Copied from the Exome Variant Server ABHD16A_000028 7/8436 7/5418 0/3018
1 c.1104G>A r.(=) p.(=) g.31656547C>T Copied from the Exome Variant Server ABHD16A_000026 1/8436 1/5418 0/3018
1 c.1134C>T r.(=) p.(=) g.31656517G>A Copied from the Exome Variant Server ABHD16A_000024 1/8434 1/5418 0/3016
1 c.1137G>A r.(=) p.(=) g.31656514C>T Copied from the Exome Variant Server ABHD16A_000022 39/8436 35/5418 4/3018
1 c.1151+33C>T r.(=) p.(=) g.31656467G>A Copied from the Exome Variant Server ABHD16A_000020 4/8434 4/5416 0/3018
1 c.1152-44G>A r.(=) p.(=) g.31656126C>T Copied from the Exome Variant Server ABHD16A_000018 6/13006 6/8600 0/4406
1 c.1152-16G>T r.(=) p.(=) g.31656098C>A Copied from the Exome Variant Server ABHD16A_000033 1/13006 1/8600 0/4406
1 c.1208+8C>T r.(=) p.(=) g.31656018G>A Copied from the Exome Variant Server ABHD16A_000031 1/13006 0/8600 1/4406
1 c.1208+9G>A r.(=) p.(=) g.31656017C>T Copied from the Exome Variant Server ABHD16A_000029 1/13006 1/8600 0/4406
1 c.1208+11_1208+12insCGTG r.(=) p.(=) g.31656014_31656015insCACG Copied from the Exome Variant Server ABHD16A_000027 52/12518 47/8254 5/4264
1 c.1208+15A>G r.(=) p.(=) g.31656011T>C Copied from the Exome Variant Server ABHD16A_000025 1/13006 1/8600 0/4406
1 c.1209-18C>T r.(=) p.(=) g.31655898G>A Copied from the Exome Variant Server ABHD16A_000023 2/8440 0/5418 2/3022
1 c.1209-7C>T r.(=) p.(=) g.31655887G>A Copied from the Exome Variant Server ABHD16A_000021 1/8440 1/5418 0/3022
1 c.1271+17G>A r.(=) p.(=) g.31655801C>T Copied from the Exome Variant Server ABHD16A_000019 1/8440 1/5418 0/3022
1 c.1272-5C>T r.spl? p.? g.31655682G>A Copied from the Exome Variant Server ABHD16A_000017 1/8438 1/5418 0/3020
1 c.1272-4G>A r.spl? p.? g.31655681C>T Copied from the Exome Variant Server ABHD16A_000016 1/8436 0/5418 1/3018
1 c.1348+30G>C r.(=) p.(=) g.31655571C>G Copied from the Exome Variant Server ABHD16A_000015 1/8432 1/5414 0/3018
1 c.1349-4C>G r.spl? p.? g.31655521G>C Copied from the Exome Variant Server ABHD16A_000014 3/8432 0/5416 3/3016
1 c.1354A>G r.(?) p.(Ile452Val) g.31655512T>C Copied from the Exome Variant Server ABHD16A_000013 3/8432 3/5416 0/3016
1 c.1371G>A r.(=) p.(=) g.31655495C>T Copied from the Exome Variant Server ABHD16A_000012 2/8428 0/5414 2/3014
1 c.1428C>T r.(=) p.(=) g.31655438G>A Copied from the Exome Variant Server ABHD16A_000011 813/8430 398/5416 415/3014
1 c.1434C>G r.(?) p.(Phe478Leu) g.31655432G>C Copied from the Exome Variant Server ABHD16A_000010 1/8434 1/5416 0/3018
1 c.1447+41T>A r.(=) p.(=) g.31655378A>T Copied from the Exome Variant Server ABHD16A_000009 1/8432 1/5416 0/3016
1 c.1448-16C>T r.(=) p.(=) g.31655337G>A Copied from the Exome Variant Server ABHD16A_000008 1/8438 1/5418 0/3020
1 c.1472G>A r.(?) p.(Arg491Gln) g.31655297C>T Copied from the Exome Variant Server ABHD16A_000007 1/8436 1/5418 0/3018
1 c.1474C>T r.(?) p.(Arg492Trp) g.31655295G>A Copied from the Exome Variant Server ABHD16A_000006 1/8436 0/5418 1/3018
1 c.1494+16G>A r.(=) p.(=) g.31655259C>T Copied from the Exome Variant Server ABHD16A_000005 3/8440 0/5418 3/3022
1 c.1495-47C>G r.(=) p.(=) g.31655119G>C Copied from the Exome Variant Server ABHD16A_000004 1/8438 0/5418 1/3020
1 c.1495-40C>T r.(=) p.(=) g.31655112G>A Copied from the Exome Variant Server ABHD16A_000003 1/8438 1/5418 0/3020
1 c.1521G>A r.(=) p.(=) g.31655046C>T Copied from the Exome Variant Server ABHD16A_000002 1/8440 0/5418 1/3022
1 c.1534A>G r.(?) p.(Thr512Ala) g.31655033T>C Copied from the Exome Variant Server ABHD16A_000001 1/8440 1/5418 0/3022
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