All transcript variants in gene ABHD14A

Information The variants shown are described using the NM_015407.4 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.70-42G>A r.(=) p.(=) g.52011845G>A Copied from the Exome Variant Server ABHD14A_000001 1/13004 0/8598 1/4406
?/? c.70-8C>T r.(=) p.(=) g.52011879C>T Copied from the Exome Variant Server ABHD14A_000002 1278/13006 134/8600 1144/4406
?/? c.89T>G r.(?) p.(Met30Arg) g.52011906T>G Copied from the Exome Variant Server ABHD14A_000003 75/13006 0/8600 75/4406
?/? c.94C>T r.(?) p.(Arg32Trp) g.52011911C>T Copied from the Exome Variant Server ABHD14A_000004 1/13006 1/8600 0/4406
?/? c.95G>A r.(?) p.(Arg32Gln) g.52011912G>A Copied from the Exome Variant Server ABHD14A_000005 338/13006 305/8600 33/4406
?/? c.99C>T r.(=) p.(=) g.52011916C>T Copied from the Exome Variant Server ABHD14A_000006 1/13006 1/8600 0/4406
?/? c.108C>T r.(=) p.(=) g.52011925C>T Copied from the Exome Variant Server ABHD14A_000007 82/13006 0/8600 82/4406
?/? c.115G>C r.(?) p.(Gly39Arg) g.52011932G>C Copied from the Exome Variant Server ABHD14A_000008 2/13006 0/8600 2/4406
?/? c.183C>G r.(?) p.(Cys61Trp) g.52012000C>G Copied from the Exome Variant Server ABHD14A_000009 1150/13006 17/8600 1133/4406
?/? c.252C>T r.(=) p.(=) g.52012069C>T Copied from the Exome Variant Server ABHD14A_000010 1/13006 0/8600 1/4406
?/? c.270C>G r.(?) p.(Asn90Lys) g.52012087C>G Copied from the Exome Variant Server ABHD14A_000011 1/13006 1/8600 0/4406
?/? c.282-50G>T r.(=) p.(=) g.52012225G>T Copied from the Exome Variant Server ABHD14A_000012 11/12452 9/8238 2/4214
?/? c.282-35G>A r.(=) p.(=) g.52012240G>A Copied from the Exome Variant Server ABHD14A_000013 1/12346 0/8154 1/4192
?/? c.282-31C>T r.(=) p.(=) g.52012244C>T Copied from the Exome Variant Server ABHD14A_000014 30/12304 26/8118 4/4186
?/? c.282-25A>T r.(=) p.(=) g.52012250A>T Copied from the Exome Variant Server ABHD14A_000015 988/12316 17/8122 971/4194
?/? c.282-10G>C r.(=) p.(=) g.52012265G>C Copied from the Exome Variant Server ABHD14A_000016 378/12270 8/8094 370/4176
?/? c.288del r.(?) p.(Val97Trpfs*72) g.52012281del Copied from the Exome Variant Server ABHD14A_000017 25/11788 17/7766 8/4022
?/? c.327G>A r.(=) p.(=) g.52012320G>A Copied from the Exome Variant Server ABHD14A_000018 274/12424 241/8202 33/4222
?/? c.333G>T r.(?) p.(Glu111Asp) g.52012326G>T Copied from the Exome Variant Server ABHD14A_000019 1/12404 1/8184 0/4220
?/? c.374G>A r.(?) p.(Arg125Gln) g.52012367G>A Copied from the Exome Variant Server ABHD14A_000020 1/12140 1/7978 0/4162
?/? c.378C>T r.(=) p.(=) g.52012371C>T Copied from the Exome Variant Server ABHD14A_000021 1/12056 0/7922 1/4134
?/? c.398-33T>C r.(=) p.(=) g.52014376T>C Copied from the Exome Variant Server ABHD14A_000022 1/13006 1/8600 0/4406
?/? c.405G>C r.(=) p.(=) g.52014416G>C Copied from the Exome Variant Server ABHD14A_000024 1/13006 0/8600 1/4406
?/? c.453G>A r.(=) p.(=) g.52014464G>A Copied from the Exome Variant Server ABHD14A_000026 1/13004 0/8598 1/4406
?/? c.463C>T r.(?) p.(Arg155Trp) g.52014474C>T Copied from the Exome Variant Server ABHD14A_000028 2/13006 0/8600 2/4406
?/? c.468G>A r.(=) p.(=) g.52014479G>A Copied from the Exome Variant Server ABHD14A_000030 2/13006 0/8600 2/4406
?/? c.472C>T r.(?) p.(Arg158Trp) g.52014483C>T Copied from the Exome Variant Server ABHD14A_000032 1/13006 1/8600 0/4406
?/? c.475G>A r.(?) p.(Asp159Asn) g.52014486G>A Copied from the Exome Variant Server ABHD14A_000034 243/13006 219/8600 24/4406
?/? c.489G>A r.(=) p.(=) g.52014500G>A Copied from the Exome Variant Server ABHD14A_000036 1/13006 1/8600 0/4406
?/? c.495C>T r.(=) p.(=) g.52014506C>T Copied from the Exome Variant Server ABHD14A_000038 1/13006 0/8600 1/4406
?/? c.510C>G r.(=) p.(=) g.52014521C>G Copied from the Exome Variant Server ABHD14A_000040 1/13006 0/8600 1/4406
?/? c.513G>A r.(=) p.(=) g.52014524G>A Copied from the Exome Variant Server ABHD14A_000042 1/13006 0/8600 1/4406
?/? c.546G>T r.(?) p.(Met182Ile) g.52014557G>T Copied from the Exome Variant Server ABHD14A_000044 1/13006 1/8600 0/4406
?/? c.555C>G r.(?) p.(His185Gln) g.52014566C>G Copied from the Exome Variant Server ABHD14A_000023 1/13006 0/8600 1/4406
?/? c.565C>T r.(?) p.(His189Tyr) g.52014576C>T Copied from the Exome Variant Server ABHD14A_000025 1/13006 1/8600 0/4406
?/? c.566A>G r.(?) p.(His189Arg) g.52014577A>G Copied from the Exome Variant Server ABHD14A_000027 3/13006 2/8600 1/4406
?/? c.575T>C r.(?) p.(Val192Ala) g.52014586T>C Copied from the Exome Variant Server ABHD14A_000029 1/13006 0/8600 1/4406
?/? c.582C>T r.(=) p.(=) g.52014593C>T Copied from the Exome Variant Server ABHD14A_000031 1/13006 1/8600 0/4406
?/? c.583G>C r.(?) p.(Ala195Pro) g.52014594G>C Copied from the Exome Variant Server ABHD14A_000033 4/13006 0/8600 4/4406
?/? c.633+1G>T r.spl? p.? g.52014645G>T Copied from the Exome Variant Server ABHD14A_000035 1/13006 0/8600 1/4406
?/? c.633+33C>T r.(=) p.(=) g.52014677C>T Copied from the Exome Variant Server ABHD14A_000037 6/13006 6/8600 0/4406
?/? c.633+39C>G r.(=) p.(=) g.52014683C>G Copied from the Exome Variant Server ABHD14A_000039 1/13006 0/8600 1/4406
?/? c.633+49G>C r.(=) p.(=) g.52014693G>C Copied from the Exome Variant Server ABHD14A_000041 1/13006 0/8600 1/4406
?/? c.634-38C>G r.(=) p.(=) g.52014814C>G Copied from the Exome Variant Server ABHD14A_000043 2/13006 2/8600 0/4406
?/? c.634-25C>T r.(=) p.(=) g.52014827C>T Copied from the Exome Variant Server ABHD14A_000045 6/13006 5/8600 1/4406
?/? c.679C>G r.(?) p.(Arg227Gly) g.52014897C>G Copied from the Exome Variant Server ABHD14A_000046 27/13006 20/8600 7/4406
?/? c.680G>A r.(?) p.(Arg227Gln) g.52014898G>A Copied from the Exome Variant Server ABHD14A_000047 2/13006 1/8600 1/4406
?/? c.689T>G r.(?) p.(Leu230Arg) g.52014907T>G Copied from the Exome Variant Server ABHD14A_000048 43/13006 38/8600 5/4406
?/? c.692G>A r.(?) p.(Arg231Gln) g.52014910G>A Copied from the Exome Variant Server ABHD14A_000049 1/13006 0/8600 1/4406
?/? c.700C>T r.(?) p.(Arg234Cys) g.52014918C>T Copied from the Exome Variant Server ABHD14A_000050 1/13006 0/8600 1/4406
?/? c.701G>A r.(?) p.(Arg234His) g.52014919G>A Copied from the Exome Variant Server ABHD14A_000051 3/13006 0/8600 3/4406
?/? c.723G>C r.(=) p.(=) g.52014941G>C Copied from the Exome Variant Server ABHD14A_000052 1/13006 0/8600 1/4406
?/? c.745C>T r.(?) p.(His249Tyr) g.52014963C>T Copied from the Exome Variant Server ABHD14A_000053 1/13006 1/8600 0/4406
?/? c.768G>A r.(=) p.(=) g.52014986G>A Copied from the Exome Variant Server ABHD14A_000054 2/13006 2/8600 0/4406
?/? c.*15A>G r.(=) p.(=) g.52015049A>G Copied from the Exome Variant Server ABHD14A_000055 1/13006 1/8600 0/4406
?/? c.*24C>A r.(=) p.(=) g.52015058C>A Copied from the Exome Variant Server ABHD14A_000056 2/13006 0/8600 2/4406
?/? c.*51C>T r.(=) p.(=) g.52015085C>T Copied from the Exome Variant Server ABHD14A_000057 1/13006 1/8600 0/4406
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