All transcript variants in gene ABHD14B

Information The variants shown are described using the NM_032750.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-46C>T r.(=) p.(=) g.52005732G>A Copied from the Exome Variant Server ABHD14B_000036 193/12978 3/8590 190/4388
?/? c.-14C>T r.(=) p.(=) g.52005700G>A Copied from the Exome Variant Server ABHD14B_000035 2/13000 2/8596 0/4404
?/? c.-11C>T r.(=) p.(=) g.52005697G>A Copied from the Exome Variant Server ABHD14B_000034 1/13000 1/8596 0/4404
?/? c.13G>A r.(?) p.(Val5Met) g.52005674C>T Copied from the Exome Variant Server ABHD14B_000033 1/13006 1/8600 0/4406
?/? c.22C>T r.(?) p.(Arg8Cys) g.52005665G>A Copied from the Exome Variant Server ABHD14B_000032 65/13004 60/8598 5/4406
?/? c.49C>T r.(?) p.(Gln17*) g.52005638G>A Copied from the Exome Variant Server ABHD14B_000031 204/13006 2/8600 202/4406
?/? c.63C>T r.(=) p.(=) g.52005624G>A Copied from the Exome Variant Server ABHD14B_000030 1/13006 1/8600 0/4406
?/? c.79G>A r.(?) p.(Gly27Ser) g.52005608C>T Copied from the Exome Variant Server ABHD14B_000029 1/13006 1/8600 0/4406
?/? c.88C>T r.(?) p.(Gln30*) g.52005599G>A Copied from the Exome Variant Server ABHD14B_000028 1/13006 1/8600 0/4406
?/? c.94C>T r.(?) p.(Arg32Cys) g.52005593G>A Copied from the Exome Variant Server ABHD14B_000027 2/13006 0/8600 2/4406
?/? c.131C>T r.(?) p.(Ser44Phe) g.52005556G>A Copied from the Exome Variant Server ABHD14B_000025 1/13006 1/8600 0/4406
?/? c.136G>A r.(?) p.(Glu46Lys) g.52005551C>T Copied from the Exome Variant Server ABHD14B_000023 1/13006 0/8600 1/4406
?/? c.211+13C>A r.(=) p.(=) g.52005463G>T Copied from the Exome Variant Server ABHD14B_000021 6/13000 6/8600 0/4400
?/? c.211+38G>C r.(=) p.(=) g.52005438C>G Copied from the Exome Variant Server ABHD14B_000019 1/12990 1/8592 0/4398
?/? c.211+50G>A r.(=) p.(=) g.52005426C>T Copied from the Exome Variant Server ABHD14B_000017 3/12970 1/8576 2/4394
?/? c.212-17C>T r.(=) p.(=) g.52004217G>A Copied from the Exome Variant Server ABHD14B_000015 1/12972 1/8574 0/4398
?/? c.225_226insT r.(?) p.(Lys76*) g.52004186_52004187insA Copied from the Exome Variant Server ABHD14B_000013 2/12514 1/8248 1/4266
?/? c.241C>T r.(?) p.(Pro81Ser) g.52004171G>A Copied from the Exome Variant Server ABHD14B_000026 3/13002 3/8598 0/4404
?/? c.250A>G r.(?) p.(Ile84Val) g.52004162T>C Copied from the Exome Variant Server ABHD14B_000024 1/13004 1/8600 0/4404
?/? c.282G>T r.(=) p.(=) g.52004130C>A Copied from the Exome Variant Server ABHD14B_000022 1/12980 1/8586 0/4394
?/? c.314_315insC r.(?) p.(Val106Glyfs*35) g.52004097_52004098insG Copied from the Exome Variant Server ABHD14B_000020 80/12520 74/8254 6/4266
?/? c.366G>A r.(=) p.(=) g.52004046C>T Copied from the Exome Variant Server ABHD14B_000018 1/13006 1/8600 0/4406
?/? c.442G>A r.(?) p.(Ala148Thr) g.52003970C>T Copied from the Exome Variant Server ABHD14B_000016 1/13006 0/8600 1/4406
?/? c.454-16C>G r.(=) p.(=) g.52003637G>C Copied from the Exome Variant Server ABHD14B_000014 3/13006 3/8600 0/4406
?/? c.463C>G r.(?) p.(Leu155Val) g.52003612G>C Copied from the Exome Variant Server ABHD14B_000012 1/13006 1/8600 0/4406
?/? c.477A>G r.(=) p.(=) g.52003598T>C Copied from the Exome Variant Server ABHD14B_000011 1/13006 0/8600 1/4406
?/? c.515T>C r.(?) p.(Leu172Pro) g.52003560A>G Copied from the Exome Variant Server ABHD14B_000010 8/13006 0/8600 8/4406
?/? c.535C>T r.(?) p.(Arg179Trp) g.52003540G>A Copied from the Exome Variant Server ABHD14B_000009 1/13006 1/8600 0/4406
?/? c.557C>T r.(?) p.(Ala186Val) g.52003518G>A Copied from the Exome Variant Server ABHD14B_000008 2/13006 0/8600 2/4406
?/? c.558G>A r.(=) p.(=) g.52003517C>T Copied from the Exome Variant Server ABHD14B_000007 1/13006 0/8600 1/4406
?/? c.609G>T r.(=) p.(=) g.52003466C>A Copied from the Exome Variant Server ABHD14B_000006 1/13006 0/8600 1/4406
?/? c.*7G>T r.(=) p.(=) g.52003435C>A Copied from the Exome Variant Server ABHD14B_000005 9/13004 0/8598 9/4406
?/? c.*22del r.(=) p.(=) g.52003420del Copied from the Exome Variant Server ABHD14B_000004 6/12518 2/8252 4/4266
?/? c.*23T>C r.(=) p.(=) g.52003419A>G Copied from the Exome Variant Server ABHD14B_000003 4/13006 2/8600 2/4406
?/? c.*44G>A r.(=) p.(=) g.52003398C>T Copied from the Exome Variant Server ABHD14B_000002 4/13006 0/8600 4/4406
?/? c.*51C>T r.(=) p.(=) g.52003391G>A Copied from the Exome Variant Server ABHD14B_000001 377/13004 7/8598 370/4406
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