Full data view for gene PPP2CA

Information The variants shown are described using the NM_002715.2 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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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.-49G>C r.(=) p.(=) g.133561601C>G Copied from the Exome Variant Server PPP2CA_000049 2/12944 0/8548 2/4396 - - - - - - -
?/? c.-37C>G r.(=) p.(=) g.133561589G>C Copied from the Exome Variant Server PPP2CA_000047 9926/12980 6948/8580 2978/4400 - - - - - - -
?/? c.-36A>G r.(=) p.(=) g.133561588T>C Copied from the Exome Variant Server PPP2CA_000045 1/12980 1/8580 0/4400 - - - - - - -
?/? c.15G>C r.(=) p.(=) g.133561538C>G Copied from the Exome Variant Server PPP2CA_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.18C>T r.(=) p.(=) g.133561535G>A Copied from the Exome Variant Server PPP2CA_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.33C>G r.(?) p.(Asp11Glu) g.133561520G>C Copied from the Exome Variant Server PPP2CA_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.62A>G r.(?) p.(Lys21Arg) g.133561491T>C Copied from the Exome Variant Server PPP2CA_000043 7/13006 0/8600 7/4406 - - - - - - -
?/? c.67C>T r.(=) p.(=) g.133561486G>A Copied from the Exome Variant Server PPP2CA_000042 2/13006 0/8600 2/4406 - - - - - - -
?/? c.81G>A r.(=) p.(=) g.133561472C>T Copied from the Exome Variant Server PPP2CA_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.102+17C>T r.(=) p.(=) g.133561434G>A Copied from the Exome Variant Server PPP2CA_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.102+30C>T r.(=) p.(=) g.133561421G>A Copied from the Exome Variant Server PPP2CA_000039 1/12958 0/8570 1/4388 - - - - - - -
?/? c.102+47C>G r.(=) p.(=) g.133561404G>C Copied from the Exome Variant Server PPP2CA_000038 1/12842 0/8488 1/4354 - - - - - - -
?/? c.103-29A>G r.(=) p.(=) g.133541851T>C Copied from the Exome Variant Server PPP2CA_000037 20/13006 15/8600 5/4406 - - - - - - -
?/? c.132C>T r.(=) p.(=) g.133541793G>A Copied from the Exome Variant Server PPP2CA_000036 5/13006 4/8600 1/4406 - - - - - - -
?/? c.162C>G r.(=) p.(=) g.133541763G>C Copied from the Exome Variant Server PPP2CA_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.180G>A r.(=) p.(=) g.133541745C>T Copied from the Exome Variant Server PPP2CA_000034 4/13006 0/8600 4/4406 - - - - - - -
?/? c.312+15A>T r.(=) p.(=) g.133541598T>A Copied from the Exome Variant Server PPP2CA_000033 1/13004 0/8598 1/4406 - - - - - - -
?/? c.313-23T>C r.(=) p.(=) g.133537735A>G Copied from the Exome Variant Server PPP2CA_000032 412/13004 1/8600 411/4404 - - - - - - -
?/? c.313-22G>A r.(=) p.(=) g.133537734C>T Copied from the Exome Variant Server PPP2CA_000031 14/13004 0/8600 14/4404 - - - - - - -
?/? c.313-17G>C r.(=) p.(=) g.133537729C>G Copied from the Exome Variant Server PPP2CA_000030 3/13004 0/8600 3/4404 - - - - - - -
?/? c.313-15A>G r.(=) p.(=) g.133537727T>C Copied from the Exome Variant Server PPP2CA_000029 1/13004 1/8600 0/4404 - - - - - - -
?/? c.345A>C r.(=) p.(=) g.133537680T>G Copied from the Exome Variant Server PPP2CA_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.414A>G r.(=) p.(=) g.133537611T>C Copied from the Exome Variant Server PPP2CA_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.420A>C r.(=) p.(=) g.133537605T>G Copied from the Exome Variant Server PPP2CA_000026 2/13006 2/8600 0/4406 - - - - - - -
?/? c.486+20A>G r.(=) p.(=) g.133537519T>C Copied from the Exome Variant Server PPP2CA_000025 158/13006 135/8600 23/4406 - - - - - - -
?/? c.576+17A>G r.(=) p.(=) g.133536659T>C Copied from the Exome Variant Server PPP2CA_000024 18/13006 0/8600 18/4406 - - - - - - -
?/? c.576+40T>C r.(=) p.(=) g.133536636A>G Copied from the Exome Variant Server PPP2CA_000023 1/13004 0/8598 1/4406 - - - - - - -
?/? c.576+41del r.(=) p.(=) g.133536635del Copied from the Exome Variant Server PPP2CA_000022 26/12516 13/8252 13/4264 - - - - - - -
?/? c.576+49G>A r.(=) p.(=) g.133536627C>T Copied from the Exome Variant Server PPP2CA_000021 4/13002 4/8598 0/4404 - - - - - - -
?/? c.577-29G>A r.(=) p.(=) g.133536216C>T Copied from the Exome Variant Server PPP2CA_000020 2/13006 0/8600 2/4406 - - - - - - -
?/? c.577-5T>C r.spl? p.? g.133536192A>G Copied from the Exome Variant Server PPP2CA_000019 20/13006 0/8600 20/4406 - - - - - - -
?/? c.678G>A r.(=) p.(=) g.133536086C>T Copied from the Exome Variant Server PPP2CA_000018 2/13006 2/8600 0/4406 - - - - - - -
?/? c.705G>A r.(=) p.(=) g.133536059C>T Copied from the Exome Variant Server PPP2CA_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.738+8G>A r.(=) p.(=) g.133536018C>T Copied from the Exome Variant Server PPP2CA_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.739-51T>G r.(=) p.(=) g.133534946A>C Copied from the Exome Variant Server PPP2CA_000015 6/13006 6/8600 0/4406 - - - - - - -
?/? c.739-3_739-2insC r.spl? p.? g.133534897_133534898insG Copied from the Exome Variant Server PPP2CA_000014 1/12518 0/8254 1/4264 - - - - - - -
?/? c.756T>C r.(=) p.(=) g.133534878A>G Copied from the Exome Variant Server PPP2CA_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.761G>A r.(?) p.(Arg254Gln) g.133534873C>T Copied from the Exome Variant Server PPP2CA_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.801T>C r.(=) p.(=) g.133534833A>G Copied from the Exome Variant Server PPP2CA_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.837C>T r.(=) p.(=) g.133534797G>A Copied from the Exome Variant Server PPP2CA_000010 6/13006 6/8600 0/4406 - - - - - - -
?/? c.846A>C r.(=) p.(=) g.133534788T>G Copied from the Exome Variant Server PPP2CA_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.857+15C>G r.(=) p.(=) g.133534762G>C Copied from the Exome Variant Server PPP2CA_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.857+30C>G r.(=) p.(=) g.133534747G>C Copied from the Exome Variant Server PPP2CA_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.858-46C>G r.(=) p.(=) g.133533581G>C Copied from the Exome Variant Server PPP2CA_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.858-16C>T r.(=) p.(=) g.133533551G>A Copied from the Exome Variant Server PPP2CA_000005 2/13006 1/8600 1/4406 - - - - - - -
?/? c.906T>A r.(=) p.(=) g.133533487A>T Copied from the Exome Variant Server PPP2CA_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*5A>G r.(=) p.(=) g.133533458T>C Copied from the Exome Variant Server PPP2CA_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*5_*6del r.(=) p.(=) g.133533457_133533458del Copied from the Exome Variant Server PPP2CA_000002 1/12518 1/8254 0/4264 - - - - - - -
?/? c.*34C>T r.(=) p.(=) g.133533429G>A Copied from the Exome Variant Server PPP2CA_000001 1/13006 1/8600 0/4406 - - - - - - -
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