Full data view for gene PNMT

Information The variants shown are described using the NM_002686.3 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.74C>T r.(?) p.(Ser25Leu) g.37824802C>T Copied from the Exome Variant Server PNMT_000001 1/11154 1/7484 0/3670 - - - - - - -
?/? c.110G>T r.(?) p.(Arg37Leu) g.37824838G>T Copied from the Exome Variant Server PNMT_000002 2/12276 2/8120 0/4156 - - - - - - -
?/? c.123G>A r.(=) p.(=) g.37824851G>A Copied from the Exome Variant Server PNMT_000003 61/12322 0/8158 61/4164 - - - - - - -
?/? c.153C>T r.(=) p.(=) g.37824881C>T Copied from the Exome Variant Server PNMT_000004 38/12316 1/8192 37/4124 - - - - - - -
?/? c.176G>A r.(?) p.(Arg59His) g.37824904G>A Copied from the Exome Variant Server PNMT_000005 1/12244 1/8150 0/4094 - - - - - - -
?/? c.202+13A>G r.(=) p.(=) g.37824943A>G Copied from the Exome Variant Server PNMT_000006 4/12242 3/8120 1/4122 - - - - - - -
?/? c.203-38T>C r.(=) p.(=) g.37825844T>C Copied from the Exome Variant Server PNMT_000007 2/12968 2/8576 0/4392 - - - - - - -
?/? c.203-32G>A r.(=) p.(=) g.37825850G>A Copied from the Exome Variant Server PNMT_000008 1/12978 1/8584 0/4394 - - - - - - -
?/? c.203-14_203-13insCTGCC r.(=) p.(=) g.37825868_37825869insCTGCC Copied from the Exome Variant Server PNMT_000009 1/12478 0/8232 1/4246 - - - - - - -
?/? c.236G>A r.(?) p.(Gly79Asp) g.37825915G>A Copied from the Exome Variant Server PNMT_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.250G>A r.(?) p.(Val84Met) g.37825929G>A Copied from the Exome Variant Server PNMT_000011 7/13004 7/8598 0/4406 - - - - - - -
?/? c.289A>G r.(?) p.(Ile97Val) g.37825968A>G Copied from the Exome Variant Server PNMT_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.298A>G r.(?) p.(Thr100Ala) g.37825977A>G Copied from the Exome Variant Server PNMT_000013 1/13004 1/8598 0/4406 - - - - - - -
?/? c.319C>T r.(?) p.(Arg107Cys) g.37825998C>T Copied from the Exome Variant Server PNMT_000014 48/13006 45/8600 3/4406 - - - - - - -
?/? c.320G>A r.(?) p.(Arg107His) g.37825999G>A Copied from the Exome Variant Server PNMT_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.334C>T r.(?) p.(Arg112Cys) g.37826013C>T Copied from the Exome Variant Server PNMT_000016 21/13004 18/8598 3/4406 - - - - - - -
?/? c.339G>A r.(?) p.(Trp113*) g.37826018G>A Copied from the Exome Variant Server PNMT_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.354G>A r.(=) p.(=) g.37826033G>A Copied from the Exome Variant Server PNMT_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.365A>G r.(?) p.(Asn122Ser) g.37826044A>G Copied from the Exome Variant Server PNMT_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.398T>C r.(?) p.(Ile133Thr) g.37826077T>C Copied from the Exome Variant Server PNMT_000020 4/13002 0/8600 4/4402 - - - - - - -
?/? c.410+10G>C r.(=) p.(=) g.37826099G>C Copied from the Exome Variant Server PNMT_000021 3/12988 0/8590 3/4398 - - - - - - -
?/? c.410+14G>C r.(=) p.(=) g.37826103G>C Copied from the Exome Variant Server PNMT_000022 1/12980 0/8588 1/4392 - - - - - - -
?/? c.410+41T>C r.(=) p.(=) g.37826130T>C Copied from the Exome Variant Server PNMT_000023 2/12974 2/8580 0/4394 - - - - - - -
?/? c.410+49C>A r.(=) p.(=) g.37826138C>A Copied from the Exome Variant Server PNMT_000024 12/12984 0/8580 12/4404 - - - - - - -
?/? c.411-40G>A r.(=) p.(=) g.37826164G>A Copied from the Exome Variant Server PNMT_000025 1/12998 1/8592 0/4406 - - - - - - -
?/? c.411-3C>T r.spl? p.? g.37826201C>T Copied from the Exome Variant Server PNMT_000026 4/13004 4/8598 0/4406 - - - - - - -
?/? c.434G>A r.(?) p.(Arg145His) g.37826227G>A Copied from the Exome Variant Server PNMT_000027 1/13004 0/8598 1/4406 - - - - - - -
?/? c.456A>G r.(=) p.(=) g.37826249A>G Copied from the Exome Variant Server PNMT_000028 809/13004 169/8598 640/4406 - - - - - - -
?/? c.457C>T r.(?) p.(Arg153Trp) g.37826250C>T Copied from the Exome Variant Server PNMT_000029 3/13004 3/8598 0/4406 - - - - - - -
?/? c.471C>T r.(=) p.(=) g.37826264C>T Copied from the Exome Variant Server PNMT_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.472G>A r.(?) p.(Asp158Asn) g.37826265G>A Copied from the Exome Variant Server PNMT_000031 6/13006 0/8600 6/4406 - - - - - - -
?/? c.474C>T r.(=) p.(=) g.37826267C>T Copied from the Exome Variant Server PNMT_000032 3/13006 0/8600 3/4406 - - - - - - -
?/? c.484C>A r.(?) p.(Pro162Thr) g.37826277C>A Copied from the Exome Variant Server PNMT_000033 1/13004 1/8598 0/4406 - - - - - - -
?/? c.523G>A r.(?) p.(Ala175Thr) g.37826316G>A Copied from the Exome Variant Server PNMT_000034 42/13006 38/8600 4/4406 - - - - - - -
?/? c.586C>T r.(?) p.(Arg196Trp) g.37826379C>T Copied from the Exome Variant Server PNMT_000035 2/13006 1/8600 1/4406 - - - - - - -
?/? c.587G>A r.(?) p.(Arg196Gln) g.37826380G>A Copied from the Exome Variant Server PNMT_000036 3/13006 0/8600 3/4406 - - - - - - -
?/? c.605C>T r.(?) p.(Thr202Ile) g.37826398C>T Copied from the Exome Variant Server PNMT_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.608C>T r.(?) p.(Thr203Met) g.37826401C>T Copied from the Exome Variant Server PNMT_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.609G>A r.(=) p.(=) g.37826402G>A Copied from the Exome Variant Server PNMT_000039 1/13004 1/8600 0/4404 - - - - - - -
?/? c.643G>A r.(?) p.(Gly215Arg) g.37826436G>A Copied from the Exome Variant Server PNMT_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.660G>A r.(=) p.(=) g.37826453G>A Copied from the Exome Variant Server PNMT_000041 1/13002 0/8600 1/4402 - - - - - - -
?/? c.678G>A r.(=) p.(=) g.37826471G>A Copied from the Exome Variant Server PNMT_000042 1/13002 1/8598 0/4404 - - - - - - -
?/? c.708G>C r.(?) p.(Glu236Asp) g.37826501G>C Copied from the Exome Variant Server PNMT_000043 1/13004 1/8598 0/4406 - - - - - - -
?/? c.719G>A r.(?) p.(Arg240Lys) g.37826512G>A Copied from the Exome Variant Server PNMT_000044 1/13004 0/8598 1/4406 - - - - - - -
?/? c.741C>G r.(=) p.(=) g.37826534C>G Copied from the Exome Variant Server PNMT_000045 1/13004 0/8598 1/4406 - - - - - - -
?/? c.750C>T r.(=) p.(=) g.37826543C>T Copied from the Exome Variant Server PNMT_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.751C>T r.(?) p.(Arg251Trp) g.37826544C>T Copied from the Exome Variant Server PNMT_000047 4/13006 3/8600 1/4406 - - - - - - -
?/? c.776C>T r.(?) p.(Pro259Leu) g.37826569C>T Copied from the Exome Variant Server PNMT_000048 3/13006 0/8600 3/4406 - - - - - - -
?/? c.789G>A r.(=) p.(=) g.37826582G>A Copied from the Exome Variant Server PNMT_000049 2/13006 0/8600 2/4406 - - - - - - -
?/? c.795C>T r.(=) p.(=) g.37826588C>T Copied from the Exome Variant Server PNMT_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.815_817del r.(?) p.(Phe274del) g.37826608_37826610del Copied from the Exome Variant Server PNMT_000051 1/12518 0/8254 1/4264 - - - - - - -
?/? c.822C>T r.(=) p.(=) g.37826615C>T Copied from the Exome Variant Server PNMT_000052 69/13006 0/8600 69/4406 - - - - - - -
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