Full data view for gene ABHD11

Information The variants shown are described using the NR_026910.1 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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     
?/? n.35G>T r.(?) - g.73153150C>A Copied from the Exome Variant Server ABHD11_000079 6/12654 0/8340 6/4314 - - - - - - -
?/? n.46G>A r.(?) - g.73153139C>T Copied from the Exome Variant Server ABHD11_000078 2/12758 0/8410 2/4348 - - - - - - -
?/? n.69C>T r.(?) - g.73153116G>A Copied from the Exome Variant Server ABHD11_000077 1/12790 1/8440 0/4350 - - - - - - -
?/? n.99C>A r.(?) - g.73153086G>T Copied from the Exome Variant Server ABHD11_000076 20/12772 15/8426 5/4346 - - - - - - -
?/? n.129C>A r.(?) - g.73153056G>T Copied from the Exome Variant Server ABHD11_000075 2/12776 0/8440 2/4336 - - - - - - -
?/? n.130G>A r.(?) - g.73153055C>T Copied from the Exome Variant Server ABHD11_000074 4/12768 0/8434 4/4334 - - - - - - -
?/? n.210-44G>A r.(=) p.(=) g.73152837C>T Copied from the Exome Variant Server ABHD11_000073 1/12892 0/8542 1/4350 - - - - - - -
?/? n.210-35G>A r.(=) p.(=) g.73152828C>T Copied from the Exome Variant Server ABHD11_000072 2/12948 0/8580 2/4368 - - - - - - -
?/? n.210-17G>C r.(=) p.(=) g.73152810C>G Copied from the Exome Variant Server ABHD11_000071 1/12992 1/8590 0/4402 - - - - - - -
?/? n.210-11T>G r.(=) p.(=) g.73152804A>C Copied from the Exome Variant Server ABHD11_000070 1/12996 0/8594 1/4402 - - - - - - -
?/? n.210-3C>T r.spl? p.? g.73152796G>A Copied from the Exome Variant Server ABHD11_000069 159/13002 140/8600 19/4402 - - - - - - -
?/? n.210-1G>T r.spl? p.? g.73152794C>A Copied from the Exome Variant Server ABHD11_000068 1/13002 0/8600 1/4402 - - - - - - -
?/? n.240C>T r.(?) - g.73152763G>A Copied from the Exome Variant Server ABHD11_000067 4/13004 4/8598 0/4406 - - - - - - -
?/? n.252C>T r.(?) - g.73152751G>A Copied from the Exome Variant Server ABHD11_000065 1/13004 1/8600 0/4404 - - - - - - -
?/? n.276C>A r.(?) - g.73152727G>T Copied from the Exome Variant Server ABHD11_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? n.340+38G>C r.(=) p.(=) g.73152625C>G Copied from the Exome Variant Server ABHD11_000061 5/13004 0/8598 5/4406 - - - - - - -
?/? n.340+41G>A r.(=) p.(=) g.73152622C>T Copied from the Exome Variant Server ABHD11_000059 2/13004 0/8598 2/4406 - - - - - - -
?/? n.340+43G>A r.(=) p.(=) g.73152620C>T Copied from the Exome Variant Server ABHD11_000057 1/13004 1/8598 0/4406 - - - - - - -
?/? n.340+210C>T r.(=) p.(=) g.73152453G>A Copied from the Exome Variant Server ABHD11_000055 11/4566 9/3182 2/1384 - - - - - - -
?/? n.340+289G>A r.(=) p.(=) g.73152374C>T Copied from the Exome Variant Server ABHD11_000053 26/4566 1/3182 25/1384 - - - - - - -
?/? n.341-285A>G r.(=) p.(=) g.73152350T>C Copied from the Exome Variant Server ABHD11_000051 23/4566 1/3182 22/1384 - - - - - - -
?/? n.341-210C>T r.(=) p.(=) g.73152275G>A Copied from the Exome Variant Server ABHD11_000066 4/4566 0/3182 4/1384 - - - - - - -
?/? n.341-45C>T r.(=) p.(=) g.73152110G>A Copied from the Exome Variant Server ABHD11_000064 2/13006 0/8600 2/4406 - - - - - - -
?/? n.341-28C>T r.(=) p.(=) g.73152093G>A Copied from the Exome Variant Server ABHD11_000062 5/13006 0/8600 5/4406 - - - - - - -
?/? n.373C>G r.(?) - g.73152033G>C Copied from the Exome Variant Server ABHD11_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? n.403G>T r.(?) - g.73152003C>A Copied from the Exome Variant Server ABHD11_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? n.451G>A r.(?) - g.73151955C>T Copied from the Exome Variant Server ABHD11_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? n.499G>A r.(?) - g.73151907C>T Copied from the Exome Variant Server ABHD11_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? n.514+1G>A r.spl? p.? g.73151891C>T Copied from the Exome Variant Server ABHD11_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? n.514+3G>A r.spl? p.? g.73151889C>T Copied from the Exome Variant Server ABHD11_000050 125/13006 6/8600 119/4406 - - - - - - -
?/? n.514+7C>T r.(=) p.(=) g.73151885G>A Copied from the Exome Variant Server ABHD11_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? n.515-42A>C r.(=) p.(=) g.73151763T>G Copied from the Exome Variant Server ABHD11_000048 31/13006 0/8600 31/4406 - - - - - - -
?/? n.515-15G>A r.(=) p.(=) g.73151736C>T Copied from the Exome Variant Server ABHD11_000047 2/13006 0/8600 2/4406 - - - - - - -
?/? n.530C>T r.(?) - g.73151706G>A Copied from the Exome Variant Server ABHD11_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? n.572G>A r.(?) - g.73151664C>T Copied from the Exome Variant Server ABHD11_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? n.592T>C r.(?) - g.73151644A>G Copied from the Exome Variant Server ABHD11_000044 7614/13006 4230/8600 3384/4406 - - - - - - -
?/? n.593G>A r.(?) - g.73151643C>T Copied from the Exome Variant Server ABHD11_000043 439/13006 3/8600 436/4406 - - - - - - -
?/? n.619C>T r.(?) - g.73151617G>A Copied from the Exome Variant Server ABHD11_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? n.648G>A r.(?) - g.73151588C>T Copied from the Exome Variant Server ABHD11_000041 2/13006 1/8600 1/4406 - - - - - - -
?/? n.657C>A r.(?) - g.73151579G>T Copied from the Exome Variant Server ABHD11_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? n.658G>A r.(?) - g.73151578C>T Copied from the Exome Variant Server ABHD11_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? n.685+22G>A r.(=) p.(=) g.73151529C>T Copied from the Exome Variant Server ABHD11_000038 2/13006 1/8600 1/4406 - - - - - - -
?/? n.685+23G>T r.(=) p.(=) g.73151528C>A Copied from the Exome Variant Server ABHD11_000037 2/13006 1/8600 1/4406 - - - - - - -
?/? n.685+48C>T r.(=) p.(=) g.73151503G>A Copied from the Exome Variant Server ABHD11_000036 2/13006 2/8600 0/4406 - - - - - - -
?/? n.686-46C>G r.(=) p.(=) g.73151486G>C Copied from the Exome Variant Server ABHD11_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? n.686-44C>G r.(=) p.(=) g.73151484G>C Copied from the Exome Variant Server ABHD11_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? n.686-37G>A r.(=) p.(=) g.73151477C>T Copied from the Exome Variant Server ABHD11_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? n.686-26C>T r.(=) p.(=) g.73151466G>A Copied from the Exome Variant Server ABHD11_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? n.686-24C>T r.(=) p.(=) g.73151464G>A Copied from the Exome Variant Server ABHD11_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? n.686-18A>G r.(=) p.(=) g.73151458T>C Copied from the Exome Variant Server ABHD11_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? n.686-9C>T r.(=) p.(=) g.73151449G>A Copied from the Exome Variant Server ABHD11_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? n.699G>A r.(?) - g.73151427C>T Copied from the Exome Variant Server ABHD11_000028 2/13006 2/8600 0/4406 - - - - - - -
?/? n.706C>T r.(?) - g.73151420G>A Copied from the Exome Variant Server ABHD11_000027 2/13006 2/8600 0/4406 - - - - - - -
?/? n.718C>T r.(?) - g.73151408G>A Copied from the Exome Variant Server ABHD11_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? n.722G>A r.(?) - g.73151404C>T Copied from the Exome Variant Server ABHD11_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? n.734G>A r.(?) - g.73151392C>T Copied from the Exome Variant Server ABHD11_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? n.826G>T r.(?) - g.73151300C>A Copied from the Exome Variant Server ABHD11_000023 33/13006 32/8600 1/4406 - - - - - - -
?/? n.867+18G>T r.(=) p.(=) g.73151241C>A Copied from the Exome Variant Server ABHD11_000022 3/13006 0/8600 3/4406 - - - - - - -
?/? n.867+25G>A r.(=) p.(=) g.73151234C>T Copied from the Exome Variant Server ABHD11_000021 10/13006 0/8600 10/4406 - - - - - - -
?/? n.867+39C>G r.(=) p.(=) g.73151220G>C Copied from the Exome Variant Server ABHD11_000020 4395/13006 2303/8600 2092/4406 - - - - - - -
?/? n.868-43C>A r.(=) p.(=) g.73151064G>T Copied from the Exome Variant Server ABHD11_000019 1/13004 1/8600 0/4404 - - - - - - -
?/? n.868-35C>A r.(=) p.(=) g.73151056G>T Copied from the Exome Variant Server ABHD11_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? n.868-18C>T r.(=) p.(=) g.73151039G>A Copied from the Exome Variant Server ABHD11_000017 4/13006 4/8600 0/4406 - - - - - - -
?/? n.868-10C>T r.(=) p.(=) g.73151031G>A Copied from the Exome Variant Server ABHD11_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? n.894G>A r.(?) - g.73150995C>T Copied from the Exome Variant Server ABHD11_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? n.905C>T r.(?) - g.73150984G>A Copied from the Exome Variant Server ABHD11_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? n.928G>A r.(?) - g.73150961C>T Copied from the Exome Variant Server ABHD11_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? n.932G>A r.(?) - g.73150957C>T Copied from the Exome Variant Server ABHD11_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? n.947C>T r.(?) - g.73150942G>A Copied from the Exome Variant Server ABHD11_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? n.955C>T r.(?) - g.73150934G>A Copied from the Exome Variant Server ABHD11_000006 29/13006 28/8600 1/4406 - - - - - - -
?/? n.956C>T r.(?) - g.73150933G>A Copied from the Exome Variant Server ABHD11_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? n.957G>A r.(?) - g.73150932C>T Copied from the Exome Variant Server ABHD11_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? n.981T>C r.(?) - g.73150908A>G Copied from the Exome Variant Server ABHD11_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? n.983C>T r.(?) - g.73150906G>A Copied from the Exome Variant Server ABHD11_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? n.994G>A r.(?) - g.73150895C>T Copied from the Exome Variant Server ABHD11_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? n.1005T>C r.(?) - g.73150884A>G Copied from the Exome Variant Server ABHD11_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? n.1023C>T r.(?) - g.73150866G>A Copied from the Exome Variant Server ABHD11_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? n.1035C>G r.(?) - g.73150854G>C Copied from the Exome Variant Server ABHD11_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? n.1038A>G r.(?) - g.73150851T>C Copied from the Exome Variant Server ABHD11_000001 1/13006 1/8600 0/4406 - - - - - - -
Legend