All transcript variants in gene ABHD15

Information The variants shown are described using the NM_198147.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.187_189del r.(?) p.(Arg63del) g.27893796_27893798del Copied from the Exome Variant Server ABHD15_000061 813/8228 554/5602 259/2626
?/? c.190_191insG r.(?) p.(Glu64Glyfs*58) g.27893794_27893795insC Copied from the Exome Variant Server ABHD15_000060 384/8150 254/5540 130/2610
?/? c.290C>T r.(?) p.(Pro97Leu) g.27893695G>A Copied from the Exome Variant Server ABHD15_000059 1/12490 1/8292 0/4198
?/? c.411G>A r.(=) p.(=) g.27893574C>T Copied from the Exome Variant Server ABHD15_000058 1/12986 1/8590 0/4396
?/? c.413A>C r.(?) p.(Asp138Ala) g.27893572T>G Copied from the Exome Variant Server ABHD15_000057 1/12982 1/8588 0/4394
?/? c.419del r.(?) p.(Val140Glyfs*2) g.27893566del Copied from the Exome Variant Server ABHD15_000056 87/12490 80/8236 7/4254
?/? c.440G>A r.(?) p.(Gly147Asp) g.27893545C>T Copied from the Exome Variant Server ABHD15_000055 11/12990 10/8590 1/4400
?/? c.455G>C r.(?) p.(Ser152Thr) g.27893530C>G Copied from the Exome Variant Server ABHD15_000054 5/12984 0/8586 5/4398
?/? c.456C>T r.(=) p.(=) g.27893529G>A Copied from the Exome Variant Server ABHD15_000053 1/12986 1/8588 0/4398
?/? c.514C>G r.(?) p.(Arg172Gly) g.27893471G>C Copied from the Exome Variant Server ABHD15_000052 1/12990 1/8592 0/4398
?/? c.580C>T r.(?) p.(Arg194Cys) g.27893405G>A Copied from the Exome Variant Server ABHD15_000051 1/12946 1/8572 0/4374
?/? c.668G>A r.(?) p.(Arg223His) g.27893317C>T Copied from the Exome Variant Server ABHD15_000050 2/12974 2/8582 0/4392
?/? c.672C>T r.(=) p.(=) g.27893313G>A Copied from the Exome Variant Server ABHD15_000049 1/12970 1/8578 0/4392
?/? c.734C>T r.(?) p.(Ser245Phe) g.27893251G>A Copied from the Exome Variant Server ABHD15_000048 1/12954 1/8570 0/4384
?/? c.739C>A r.(?) p.(Leu247Met) g.27893246G>T Copied from the Exome Variant Server ABHD15_000047 1/12952 1/8574 0/4378
?/? c.747G>C r.(?) p.(Glu249Asp) g.27893238C>G Copied from the Exome Variant Server ABHD15_000046 1/12944 0/8570 1/4374
?/? c.816C>T r.(=) p.(=) g.27893169G>A Copied from the Exome Variant Server ABHD15_000045 6/12934 5/8554 1/4380
?/? c.844C>T r.(?) p.(Arg282Trp) g.27893141G>A Copied from the Exome Variant Server ABHD15_000044 1/12974 0/8578 1/4396
?/? c.881+44C>T r.(=) p.(=) g.27893060G>A Copied from the Exome Variant Server ABHD15_000043 1/12866 1/8540 0/4326
?/? c.882-40C>G r.(=) p.(=) g.27890144G>C Copied from the Exome Variant Server ABHD15_000042 128/12414 1/8232 127/4182
?/? c.882-8G>A r.(=) p.(=) g.27890112C>T Copied from the Exome Variant Server ABHD15_000041 1/12756 1/8440 0/4316
?/? c.904A>G r.(?) p.(Thr302Ala) g.27890082T>C Copied from the Exome Variant Server ABHD15_000040 73/12976 67/8584 6/4392
?/? c.906T>C r.(=) p.(=) g.27890080A>G Copied from the Exome Variant Server ABHD15_000039 8/12978 8/8586 0/4392
?/? c.935G>A r.(?) p.(Arg312His) g.27890051C>T Copied from the Exome Variant Server ABHD15_000038 1/13006 1/8600 0/4406
?/? c.939C>T r.(=) p.(=) g.27890047G>A Copied from the Exome Variant Server ABHD15_000037 4/13004 1/8598 3/4406
?/? c.974C>A r.(?) p.(Thr325Asn) g.27890012G>T Copied from the Exome Variant Server ABHD15_000036 1/13006 0/8600 1/4406
?/? c.980G>A r.(?) p.(Ser327Asn) g.27890006C>T Copied from the Exome Variant Server ABHD15_000035 1/13006 0/8600 1/4406
?/? c.988A>G r.(?) p.(Ile330Val) g.27889998T>C Copied from the Exome Variant Server ABHD15_000034 1/13006 0/8600 1/4406
?/? c.997G>A r.(?) p.(Asp333Asn) g.27889989C>T Copied from the Exome Variant Server ABHD15_000033 1/13006 1/8600 0/4406
?/? c.1000A>G r.(?) p.(Thr334Ala) g.27889986T>C Copied from the Exome Variant Server ABHD15_000032 9030/13006 5642/8600 3388/4406
?/? c.1007G>A r.(?) p.(Trp336*) g.27889979C>T Copied from the Exome Variant Server ABHD15_000031 2/13006 0/8600 2/4406
?/? c.1012C>T r.(?) p.(Arg338Cys) g.27889974G>A Copied from the Exome Variant Server ABHD15_000030 1/13006 0/8600 1/4406
?/? c.1016A>G r.(?) p.(Asn339Ser) g.27889970T>C Copied from the Exome Variant Server ABHD15_000029 1/13006 1/8600 0/4406
?/? c.1022C>T r.(?) p.(Pro341Leu) g.27889964G>A Copied from the Exome Variant Server ABHD15_000028 1/13006 1/8600 0/4406
?/? c.1023G>C r.(=) p.(=) g.27889963C>G Copied from the Exome Variant Server ABHD15_000027 2904/13006 1425/8600 1479/4406
?/? c.1028G>A r.(?) p.(Arg343Gln) g.27889958C>T Copied from the Exome Variant Server ABHD15_000026 3/13006 0/8600 3/4406
?/? c.1030G>A r.(?) p.(Asp344Asn) g.27889956C>T Copied from the Exome Variant Server ABHD15_000025 2/13006 2/8600 0/4406
?/? c.1048G>A r.(?) p.(Val350Met) g.27889938C>T Copied from the Exome Variant Server ABHD15_000024 1/13006 1/8600 0/4406
?/? c.1058T>C r.(?) p.(Leu353Pro) g.27889928A>G Copied from the Exome Variant Server ABHD15_000023 1/13006 0/8600 1/4406
?/? c.1084G>A r.(?) p.(Val362Met) g.27889902C>T Copied from the Exome Variant Server ABHD15_000022 1/13006 0/8600 1/4406
?/? c.1101C>T r.(=) p.(=) g.27889885G>A Copied from the Exome Variant Server ABHD15_000021 1/13006 1/8600 0/4406
?/? c.1119A>G r.(=) p.(=) g.27889867T>C Copied from the Exome Variant Server ABHD15_000020 1/13006 1/8600 0/4406
?/? c.1165G>A r.(?) p.(Gly389Arg) g.27889821C>T Copied from the Exome Variant Server ABHD15_000019 1/13006 1/8600 0/4406
?/? c.1174T>C r.(?) p.(Cys392Arg) g.27889812A>G Copied from the Exome Variant Server ABHD15_000018 1/13006 0/8600 1/4406
?/? c.1192G>C r.(?) p.(Glu398Gln) g.27889794C>G Copied from the Exome Variant Server ABHD15_000017 4/13006 0/8600 4/4406
?/? c.1235T>C r.(?) p.(Phe412Ser) g.27889751A>G Copied from the Exome Variant Server ABHD15_000016 1/13006 0/8600 1/4406
?/? c.1237C>T r.(?) p.(Arg413Trp) g.27889749G>A Copied from the Exome Variant Server ABHD15_000015 1/13006 1/8600 0/4406
?/? c.1238G>A r.(?) p.(Arg413Gln) g.27889748C>T Copied from the Exome Variant Server ABHD15_000014 3/13006 3/8600 0/4406
?/? c.1253T>C r.(?) p.(Phe418Ser) g.27889733A>G Copied from the Exome Variant Server ABHD15_000013 2/13006 0/8600 2/4406
?/? c.1262C>T r.(?) p.(Thr421Met) g.27889724G>A Copied from the Exome Variant Server ABHD15_000012 1/13006 1/8600 0/4406
?/? c.1263G>A r.(=) p.(=) g.27889723C>T Copied from the Exome Variant Server ABHD15_000011 1/13006 0/8600 1/4406
?/? c.1286G>A r.(?) p.(Ser429Asn) g.27889700C>T Copied from the Exome Variant Server ABHD15_000010 2/13006 1/8600 1/4406
?/? c.1309G>A r.(?) p.(Gly437Arg) g.27889677C>T Copied from the Exome Variant Server ABHD15_000009 1/13006 0/8600 1/4406
?/? c.1316G>A r.(?) p.(Arg439His) g.27889670C>T Copied from the Exome Variant Server ABHD15_000008 1/13006 1/8600 0/4406
?/? c.1317T>C r.(=) p.(=) g.27889669A>G Copied from the Exome Variant Server ABHD15_000007 89/13006 1/8600 88/4406
?/? c.1319G>A r.(?) p.(Arg440His) g.27889667C>T Copied from the Exome Variant Server ABHD15_000006 1/13006 1/8600 0/4406
?/? c.1342C>T r.(?) p.(Arg448Trp) g.27889644G>A Copied from the Exome Variant Server ABHD15_000005 3/13006 0/8600 3/4406
?/? c.1343G>A r.(?) p.(Arg448Gln) g.27889643C>T Copied from the Exome Variant Server ABHD15_000004 230/13006 182/8600 48/4406
?/? c.1390C>G r.(?) p.(Arg464Gly) g.27889596G>C Copied from the Exome Variant Server ABHD15_000003 1/13006 1/8600 0/4406
?/? c.*1A>G r.(=) p.(=) g.27889578T>C Copied from the Exome Variant Server ABHD15_000002 8703/13006 5246/8600 3457/4406
?/? c.*17A>G r.(=) p.(=) g.27889562T>C Copied from the Exome Variant Server ABHD15_000001 1/12998 1/8594 0/4404
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