Full data view for gene PAGE1

Information The variants shown are described using the NM_003785.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.-8-31C>T r.(=) p.(=) g.49459412G>A Copied from the Exome Variant Server PAGE1_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-8-21A>G r.(=) p.(=) g.49459402T>C Copied from the Exome Variant Server PAGE1_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-8-17C>T r.(=) p.(=) g.49459398G>A Copied from the Exome Variant Server PAGE1_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.29G>A r.(?) p.(Arg10Gln) g.49459345C>T Copied from the Exome Variant Server PAGE1_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.63+33G>A r.(=) p.(=) g.49459278C>T Copied from the Exome Variant Server PAGE1_000022 2/10563 1/6728 1/3835 - - - - - - -
?/? c.87C>T r.(=) p.(=) g.49458781G>A Copied from the Exome Variant Server PAGE1_000021 148/10549 137/6719 11/3830 - - - - - - -
?/? c.147G>A r.(=) p.(=) g.49458721C>T Copied from the Exome Variant Server PAGE1_000020 1/10561 1/6726 0/3835 - - - - - - -
?/? c.167-8T>C r.(=) p.(=) g.49455985A>G Copied from the Exome Variant Server PAGE1_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.168G>A r.(=) p.(=) g.49455976C>T Copied from the Exome Variant Server PAGE1_000018 49/10563 44/6728 5/3835 - - - - - - -
?/? c.172G>A r.(?) p.(Glu58Lys) g.49455972C>T Copied from the Exome Variant Server PAGE1_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.285C>T r.(=) p.(=) g.49455859G>A Copied from the Exome Variant Server PAGE1_000016 10/10563 1/6728 9/3835 - - - - - - -
?/? c.286G>A r.(?) p.(Ala96Thr) g.49455858C>T Copied from the Exome Variant Server PAGE1_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.292+29T>C r.(=) p.(=) g.49455823A>G Copied from the Exome Variant Server PAGE1_000014 13/10563 0/6728 13/3835 - - - - - - -
?/? c.293-54_293-30del r.(=) p.(=) g.49454176_49454200del Copied from the Exome Variant Server PAGE1_000013 566/4643 294/3299 272/1344 - - - - - - -
?/? c.309G>A r.(=) p.(=) g.49454130C>T Copied from the Exome Variant Server PAGE1_000012 31/10563 0/6728 31/3835 - - - - - - -
?/? c.333G>A r.(=) p.(=) g.49454106C>T Copied from the Exome Variant Server PAGE1_000011 4/10563 4/6728 0/3835 - - - - - - -
?/? c.342G>A r.(=) p.(=) g.49454097C>T Copied from the Exome Variant Server PAGE1_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.350G>A r.(?) p.(Arg117His) g.49454089C>T Copied from the Exome Variant Server PAGE1_000009 20/10563 20/6728 0/3835 - - - - - - -
?/? c.351C>T r.(=) p.(=) g.49454088G>A Copied from the Exome Variant Server PAGE1_000008 2/10563 0/6728 2/3835 - - - - - - -
?/? c.381C>A r.(=) p.(=) g.49454058G>T Copied from the Exome Variant Server PAGE1_000007 10/10563 0/6728 10/3835 - - - - - - -
?/? c.383T>C r.(?) p.(Leu128Pro) g.49454056A>G Copied from the Exome Variant Server PAGE1_000006 285/10563 4/6728 281/3835 - - - - - - -
?/? c.409C>T r.(?) p.(Pro137Ser) g.49454030G>A Copied from the Exome Variant Server PAGE1_000005 2/10563 0/6728 2/3835 - - - - - - -
?/? c.413A>G r.(?) p.(Glu138Gly) g.49454026T>C Copied from the Exome Variant Server PAGE1_000004 60/10563 55/6728 5/3835 - - - - - - -
?/? c.418+22C>T r.(=) p.(=) g.49453999G>A Copied from the Exome Variant Server PAGE1_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.419-61T>C r.(=) p.(=) g.49452227A>G Copied from the Exome Variant Server PAGE1_000002 14/3600 0/2391 14/1209 - - - - - - -
?/? c.*10C>T r.(=) p.(=) g.49452134G>A Copied from the Exome Variant Server PAGE1_000001 2/10563 1/6728 1/3835 - - - - - - -
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