All transcript variants in gene ABHD13

Information The variants shown are described using the NM_032859.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-8G>A r.(=) p.(=) g.108881559G>A Copied from the Exome Variant Server ABHD13_000001 1/13002 1/8596 0/4406
?/? c.46A>G r.(?) p.(Ile16Val) g.108881612A>G Copied from the Exome Variant Server ABHD13_000002 4/13004 0/8598 4/4406
?/? c.73C>A r.(?) p.(Leu25Ile) g.108881639C>A Copied from the Exome Variant Server ABHD13_000003 4/13004 0/8598 4/4406
?/? c.120T>C r.(=) p.(=) g.108881686T>C Copied from the Exome Variant Server ABHD13_000004 1/13004 0/8598 1/4406
?/? c.141G>A r.(=) p.(=) g.108881707G>A Copied from the Exome Variant Server ABHD13_000005 1/13004 1/8598 0/4406
?/? c.216C>T r.(=) p.(=) g.108881782C>T Copied from the Exome Variant Server ABHD13_000006 2/13004 0/8598 2/4406
?/? c.292C>T r.(?) p.(Arg98Cys) g.108881858C>T Copied from the Exome Variant Server ABHD13_000007 6/13002 5/8596 1/4406
?/? c.293G>A r.(?) p.(Arg98His) g.108881859G>A Copied from the Exome Variant Server ABHD13_000008 8/13002 8/8596 0/4406
?/? c.313C>G r.(?) p.(Arg105Gly) g.108881879C>G Copied from the Exome Variant Server ABHD13_000009 2/13002 0/8596 2/4406
?/? c.323G>A r.(?) p.(Gly108Glu) g.108881889G>A Copied from the Exome Variant Server ABHD13_000010 1/13004 1/8598 0/4406
?/? c.363T>C r.(=) p.(=) g.108881929T>C Copied from the Exome Variant Server ABHD13_000011 2/13002 2/8596 0/4406
?/? c.420C>T r.(=) p.(=) g.108881986C>T Copied from the Exome Variant Server ABHD13_000012 1/13004 1/8598 0/4406
?/? c.479C>G r.(?) p.(Ala160Gly) g.108882045C>G Copied from the Exome Variant Server ABHD13_000013 1/13006 1/8600 0/4406
?/? c.482G>C r.(?) p.(Ser161Thr) g.108882048G>C Copied from the Exome Variant Server ABHD13_000014 1/13006 0/8600 1/4406
?/? c.496T>C r.(?) p.(Tyr166His) g.108882062T>C Copied from the Exome Variant Server ABHD13_000015 1/13006 0/8600 1/4406
?/? c.497A>C r.(?) p.(Tyr166Ser) g.108882063A>C Copied from the Exome Variant Server ABHD13_000016 1/13006 0/8600 1/4406
?/? c.541G>A r.(?) p.(Asp181Asn) g.108882107G>A Copied from the Exome Variant Server ABHD13_000017 1/13006 1/8600 0/4406
?/? c.543C>A r.(?) p.(Asp181Glu) g.108882109C>A Copied from the Exome Variant Server ABHD13_000018 1/13006 1/8600 0/4406
?/? c.601C>T r.(?) p.(His201Tyr) g.108882167C>T Copied from the Exome Variant Server ABHD13_000019 1/13006 1/8600 0/4406
?/? c.643G>A r.(?) p.(Val215Met) g.108882209G>A Copied from the Exome Variant Server ABHD13_000020 8/13006 0/8600 8/4406
?/? c.735T>C r.(=) p.(=) g.108882301T>C Copied from the Exome Variant Server ABHD13_000021 1/13002 1/8598 0/4404
?/? c.786C>T r.(=) p.(=) g.108882352C>T Copied from the Exome Variant Server ABHD13_000022 2/13004 2/8598 0/4406
?/? c.954C>T r.(=) p.(=) g.108882520C>T Copied from the Exome Variant Server ABHD13_000023 4/13006 3/8600 1/4406
?/? c.955G>A r.(?) p.(Val319Ile) g.108882521G>A Copied from the Exome Variant Server ABHD13_000024 1/13006 1/8600 0/4406
?/? c.*19T>C r.(=) p.(=) g.108882599T>C Copied from the Exome Variant Server ABHD13_000025 1/12978 1/8586 0/4392
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