All transcript variants in gene PEMT

Information The variants shown are described using the NM_007169.2 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.-15-48A>G r.(=) p.(=) g.17480389T>C Copied from the Exome Variant Server PEMT_000061 2/13004 0/8600 2/4404
?/? c.-15-46G>A r.(=) p.(=) g.17480387C>T Copied from the Exome Variant Server PEMT_000060 2/13004 0/8600 2/4404
?/? c.-15-5T>C r.(=) p.(=) g.17480346A>G Copied from the Exome Variant Server PEMT_000059 10/13006 0/8600 10/4406
?/? c.-6T>G r.(=) p.(=) g.17480332A>C Copied from the Exome Variant Server PEMT_000058 1/13006 0/8600 1/4406
?/? c.5C>G r.(?) p.(Thr2Ser) g.17480322G>C Copied from the Exome Variant Server PEMT_000057 19/13006 19/8600 0/4406
?/? c.7C>T r.(?) p.(Arg3Trp) g.17480320G>A Copied from the Exome Variant Server PEMT_000056 25/13006 2/8600 23/4406
?/? c.22G>A r.(?) p.(Val8Met) g.17480305C>T Copied from the Exome Variant Server PEMT_000055 1/13006 1/8600 0/4406
?/? c.30C>G r.(=) p.(=) g.17480297G>C Copied from the Exome Variant Server PEMT_000054 1/13006 0/8600 1/4406
?/? c.37C>T r.(?) p.(Pro13Ser) g.17480290G>A Copied from the Exome Variant Server PEMT_000053 1/13006 0/8600 1/4406
?/? c.46G>A r.(?) p.(Val16Met) g.17480281C>T Copied from the Exome Variant Server PEMT_000052 1/13006 0/8600 1/4406
?/? c.54C>T r.(=) p.(=) g.17480273G>A Copied from the Exome Variant Server PEMT_000051 3/13006 3/8600 0/4406
?/? c.55G>A r.(?) p.(Val19Ile) g.17480272C>T Copied from the Exome Variant Server PEMT_000050 1/13006 1/8600 0/4406
?/? c.93+19A>G r.(=) p.(=) g.17480215T>C Copied from the Exome Variant Server PEMT_000049 1/13006 1/8600 0/4406
?/? c.93+29C>T r.(=) p.(=) g.17480205G>A Copied from the Exome Variant Server PEMT_000048 4/13006 4/8600 0/4406
?/? c.93+39T>C r.(=) p.(=) g.17480195A>G Copied from the Exome Variant Server PEMT_000047 8545/13006 5080/8600 3465/4406
?/? c.93+47T>C r.(=) p.(=) g.17480187A>G Copied from the Exome Variant Server PEMT_000046 3275/13006 844/8600 2431/4406
?/? c.94-33A>G r.(=) p.(=) g.17425742T>C Copied from the Exome Variant Server PEMT_000045 1/13000 1/8594 0/4406
?/? c.94-30T>C r.(=) p.(=) g.17425739A>G Copied from the Exome Variant Server PEMT_000044 1/13000 1/8594 0/4406
?/? c.94-10C>G r.(=) p.(=) g.17425719G>C Copied from the Exome Variant Server PEMT_000043 2/13006 2/8600 0/4406
?/? c.102A>G r.(=) p.(=) g.17425701T>C Copied from the Exome Variant Server PEMT_000042 1/13006 1/8600 0/4406
?/? c.111C>T r.(=) p.(=) g.17425692G>A Copied from the Exome Variant Server PEMT_000041 3/13006 2/8600 1/4406
?/? c.117C>T r.(=) p.(=) g.17425686G>A Copied from the Exome Variant Server PEMT_000040 1/13006 0/8600 1/4406
?/? c.119G>A r.(?) p.(Arg40His) g.17425684C>T Copied from the Exome Variant Server PEMT_000039 3/13006 0/8600 3/4406
?/? c.120C>G r.(=) p.(=) g.17425683G>C Copied from the Exome Variant Server PEMT_000038 1/13006 1/8600 0/4406
?/? c.123G>A r.(=) p.(=) g.17425680C>T Copied from the Exome Variant Server PEMT_000037 1/13006 1/8600 0/4406
?/? c.126G>A r.(=) p.(=) g.17425677C>T Copied from the Exome Variant Server PEMT_000036 1/13006 0/8600 1/4406
?/? c.128G>A r.(?) p.(Ser43Asn) g.17425675C>T Copied from the Exome Variant Server PEMT_000035 1/13006 0/8600 1/4406
?/? c.138C>T r.(=) p.(=) g.17425665G>A Copied from the Exome Variant Server PEMT_000034 3/13006 0/8600 3/4406
?/? c.150C>T r.(=) p.(=) g.17425653G>A Copied from the Exome Variant Server PEMT_000033 1/13006 1/8600 0/4406
?/? c.164C>G r.(?) p.(Ser55Cys) g.17425639G>C Copied from the Exome Variant Server PEMT_000032 7/13006 0/8600 7/4406
?/? c.172G>A r.(?) p.(Val58Ile) g.17425631C>T Copied from the Exome Variant Server PEMT_000031 4451/13006 3877/8600 574/4406
?/? c.209+11C>G r.(=) p.(=) g.17425583G>C Copied from the Exome Variant Server PEMT_000030 1/13002 1/8600 0/4402
?/? c.209+13C>T r.(=) p.(=) g.17425581G>A Copied from the Exome Variant Server PEMT_000029 3/13002 0/8600 3/4402
?/? c.210-28G>A r.(=) p.(=) g.17415996C>T Copied from the Exome Variant Server PEMT_000028 6/12998 5/8600 1/4398
?/? c.270C>T r.(=) p.(=) g.17415908G>A Copied from the Exome Variant Server PEMT_000027 1/13004 1/8600 0/4404
?/? c.285G>A r.(=) p.(=) g.17415893C>T Copied from the Exome Variant Server PEMT_000026 716/13006 647/8600 69/4406
?/? c.356-28G>A r.(=) p.(=) g.17412887C>T Copied from the Exome Variant Server PEMT_000025 53/13006 2/8600 51/4406
?/? c.415G>A r.(?) p.(Asp139Asn) g.17412800C>T Copied from the Exome Variant Server PEMT_000024 1/13006 1/8600 0/4406
?/? c.467+17C>T r.(=) p.(=) g.17412731G>A Copied from the Exome Variant Server PEMT_000023 1/13006 1/8600 0/4406
?/? c.467+45C>T r.(=) p.(=) g.17412703G>A Copied from the Exome Variant Server PEMT_000022 2/13006 1/8600 1/4406
?/? c.467+46G>A r.(=) p.(=) g.17412702C>T Copied from the Exome Variant Server PEMT_000021 4/13006 0/8600 4/4406
?/? c.468-915_468-912del r.(=) p.(=) g.17410527_17410530del Copied from the Exome Variant Server PEMT_000020 54/6956 38/4658 16/2298
?/? c.468-907T>C r.(=) p.(=) g.17410522A>G Copied from the Exome Variant Server PEMT_000019 226/5640 6/3932 220/1708
?/? c.468-892A>G r.(=) p.(=) g.17410507T>C Copied from the Exome Variant Server PEMT_000018 290/5648 6/3934 284/1714
?/? c.468-854T>C r.(=) p.(=) g.17410469A>G Copied from the Exome Variant Server PEMT_000017 31/5654 0/3940 31/1714
?/? c.468-43_468-42del r.(=) p.(=) g.17409657_17409658del Copied from the Exome Variant Server PEMT_000016 2/12010 2/7916 0/4094
?/? c.471C>T r.(=) p.(=) g.17409612G>A Copied from the Exome Variant Server PEMT_000015 1/12932 1/8552 0/4380
?/? c.523G>A r.(?) p.(Val175Met) g.17409560C>T Copied from the Exome Variant Server PEMT_000014 7979/12964 6195/8572 1784/4392
?/? c.538G>A r.(?) p.(Glu180Lys) g.17409545C>T Copied from the Exome Variant Server PEMT_000013 1/12946 1/8560 0/4386
?/? c.542+19G>A r.(=) p.(=) g.17409522C>T Copied from the Exome Variant Server PEMT_000012 1/12808 1/8476 0/4332
?/? c.543-25G>A r.(=) p.(=) g.17409187C>T Copied from the Exome Variant Server PEMT_000011 1/13006 1/8600 0/4406
?/? c.543-15C>G r.(=) p.(=) g.17409177G>C Copied from the Exome Variant Server PEMT_000010 1/13006 1/8600 0/4406
?/? c.543-6C>T r.(=) p.(=) g.17409168G>A Copied from the Exome Variant Server PEMT_000009 1/13006 1/8600 0/4406
?/? c.553G>A r.(?) p.(Ala185Thr) g.17409152C>T Copied from the Exome Variant Server PEMT_000008 1/13006 1/8600 0/4406
?/? c.565C>T r.(?) p.(Arg189Trp) g.17409140G>A Copied from the Exome Variant Server PEMT_000007 8/13006 6/8600 2/4406
?/? c.566G>T r.(?) p.(Arg189Leu) g.17409139C>A Copied from the Exome Variant Server PEMT_000006 9/13006 0/8600 9/4406
?/? c.580G>A r.(?) p.(Gly194Arg) g.17409125C>T Copied from the Exome Variant Server PEMT_000005 36/13006 31/8600 5/4406
?/? c.*13A>C r.(=) p.(=) g.17409092T>G Copied from the Exome Variant Server PEMT_000004 1/13004 1/8598 0/4406
?/? c.*30G>A r.(=) p.(=) g.17409075C>T Copied from the Exome Variant Server PEMT_000003 3/13002 0/8596 3/4406
?/? c.*34_*45del r.(=) p.(=) g.17409060_17409071del Copied from the Exome Variant Server PEMT_000002 16/12508 14/8248 2/4260
?/? c.*67C>T r.(=) p.(=) g.17409038G>A Copied from the Exome Variant Server PEMT_000001 7/4566 1/3182 6/1384
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