All transcript variants in gene PAGE5

Information The variants shown are described using the NM_130467.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-68C>T r.(=) p.(=) g.55246965C>T Copied from the Exome Variant Server PAGE5_000001 2930/3598 2326/2389 604/1209
?/? c.-31G>A r.(=) p.(=) g.55247002G>A Copied from the Exome Variant Server PAGE5_000002 1/10528 1/6710 0/3818
?/? c.-19C>T r.(=) p.(=) g.55247014C>T Copied from the Exome Variant Server PAGE5_000003 26/10546 1/6723 25/3823
?/? c.-8A>C r.(=) p.(=) g.55247025A>C Copied from the Exome Variant Server PAGE5_000004 11/10554 9/6724 2/3830
?/? c.-3C>G r.(=) p.(=) g.55247030C>G Copied from the Exome Variant Server PAGE5_000005 8655/10555 6509/6724 2146/3831
?/? c.18C>T r.(=) p.(=) g.55247050C>T Copied from the Exome Variant Server PAGE5_000006 3/10562 3/6727 0/3835
?/? c.52+7C>A r.(=) p.(=) g.55247091C>A Copied from the Exome Variant Server PAGE5_000007 1/10556 1/6726 0/3830
?/? c.52+24G>A r.(=) p.(=) g.55247108G>A Copied from the Exome Variant Server PAGE5_000008 4/10549 0/6723 4/3826
?/? c.52+48G>A r.(=) p.(=) g.55247132G>A Copied from the Exome Variant Server PAGE5_000009 21/10518 0/6703 21/3815
?/? c.53-33C>G r.(=) p.(=) g.55247775C>G Copied from the Exome Variant Server PAGE5_000010 1/10563 1/6728 0/3835
?/? c.62T>C r.(?) p.(Met21Thr) g.55247817T>C Copied from the Exome Variant Server PAGE5_000011 91/10563 80/6728 11/3835
?/? c.131G>A r.(?) p.(Gly44Glu) g.55247886G>A Copied from the Exome Variant Server PAGE5_000012 1/10563 1/6728 0/3835
?/? c.142-40A>G r.(=) p.(=) g.55248160A>G Copied from the Exome Variant Server PAGE5_000014 1/10560 0/6726 1/3834
?/? c.142-7C>T r.(=) p.(=) g.55248193C>T Copied from the Exome Variant Server PAGE5_000016 1/10562 1/6727 0/3835
?/? c.155C>T r.(?) p.(Thr52Ile) g.55248213C>T Copied from the Exome Variant Server PAGE5_000013 117/10563 1/6728 116/3835
?/? c.245del r.(?) p.(Gln83Lysfs*17) g.55248303del Copied from the Exome Variant Server PAGE5_000015 1/10204 1/6483 0/3721
?/? c.250+12G>A r.(=) p.(=) g.55248320G>A Copied from the Exome Variant Server PAGE5_000017 2783/10557 2119/6724 664/3833
?/? c.251-48T>A r.(=) p.(=) g.55249006T>A Copied from the Exome Variant Server PAGE5_000018 1/10563 1/6728 0/3835
?/? c.251-5T>C r.spl? p.? g.55249049T>C Copied from the Exome Variant Server PAGE5_000019 4765/10563 4380/6728 385/3835
?/? c.280C>T r.(=) p.(=) g.55249083C>T Copied from the Exome Variant Server PAGE5_000020 1/10563 0/6728 1/3835
?/? c.289C>T r.(?) p.(Leu97Phe) g.55249092C>T Copied from the Exome Variant Server PAGE5_000021 1/10563 1/6728 0/3835
?/? c.295A>G r.(?) p.(Ile99Val) g.55249098A>G Copied from the Exome Variant Server PAGE5_000022 2/10559 1/6724 1/3835
?/? c.366G>A r.(=) p.(=) g.55249169G>A Copied from the Exome Variant Server PAGE5_000023 1/10563 0/6728 1/3835
?/? c.376+18A>T r.(=) p.(=) g.55249197A>T Copied from the Exome Variant Server PAGE5_000024 1/10563 1/6728 0/3835
?/? c.376+33T>C r.(=) p.(=) g.55249212T>C Copied from the Exome Variant Server PAGE5_000025 2/10563 2/6728 0/3835
?/? c.377-29C>T r.(=) p.(=) g.55250391C>T Copied from the Exome Variant Server PAGE5_000026 44/10554 0/6722 44/3832
?/? c.*8C>A r.(=) p.(=) g.55250444C>A Copied from the Exome Variant Server PAGE5_000027 1/10554 0/6721 1/3833
?/? c.*13A>G r.(=) p.(=) g.55250449A>G Copied from the Exome Variant Server PAGE5_000028 252/10556 234/6721 18/3835
?/? c.*17A>G r.(=) p.(=) g.55250453A>G Copied from the Exome Variant Server PAGE5_000029 18/10556 17/6721 1/3835
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