Full data view for gene PPY

Information The variants shown are described using the NM_002722.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.1-34C>T r.(=) p.(=) g.42019056G>A Copied from the Exome Variant Server PPY_000030 1/12878 1/8508 0/4370 - - - - - - -
?/? c.1-13G>C r.(=) p.(=) g.42019035C>G Copied from the Exome Variant Server PPY_000029 1/12994 1/8590 0/4404 - - - - - - -
?/? c.13C>T r.(?) p.(Arg5Cys) g.42019010G>A Copied from the Exome Variant Server PPY_000028 4/13002 0/8598 4/4404 - - - - - - -
?/? c.48C>T r.(=) p.(=) g.42018975G>A Copied from the Exome Variant Server PPY_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.81C>G r.(=) p.(=) g.42018942G>C Copied from the Exome Variant Server PPY_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.126A>C r.(=) p.(=) g.42018897T>G Copied from the Exome Variant Server PPY_000025 3/13006 0/8600 3/4406 - - - - - - -
?/? c.137T>C r.(?) p.(Met46Thr) g.42018886A>G Copied from the Exome Variant Server PPY_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.147T>C r.(=) p.(=) g.42018876A>G Copied from the Exome Variant Server PPY_000023 3/13006 0/8600 3/4406 - - - - - - -
?/? c.160C>T r.(?) p.(Arg54Cys) g.42018863G>A Copied from the Exome Variant Server PPY_000022 2/13006 2/8600 0/4406 - - - - - - -
?/? c.161G>A r.(?) p.(Arg54His) g.42018862C>T Copied from the Exome Variant Server PPY_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.176T>C r.(?) p.(Met59Thr) g.42018847A>G Copied from the Exome Variant Server PPY_000020 8/13006 0/8600 8/4406 - - - - - - -
?/? c.188C>T r.(?) p.(Pro63Leu) g.42018835G>A Copied from the Exome Variant Server PPY_000019 9/13006 9/8600 0/4406 - - - - - - -
?/? c.191+6_191+7del r.(=) p.(=) g.42018825_42018826del Copied from the Exome Variant Server PPY_000018 29/12518 20/8254 9/4264 - - - - - - -
?/? c.191+14T>C r.(=) p.(=) g.42018818A>G Copied from the Exome Variant Server PPY_000017 12/13006 0/8600 12/4406 - - - - - - -
?/? c.191+21G>A r.(=) p.(=) g.42018811C>T Copied from the Exome Variant Server PPY_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.191+46G>T r.(=) p.(=) g.42018786C>A Copied from the Exome Variant Server PPY_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.192-62T>C r.(=) p.(=) g.42018644A>G Copied from the Exome Variant Server PPY_000014 6/4566 1/3182 5/1384 - - - - - - -
?/? c.218C>T r.(?) p.(Thr73Met) g.42018556G>A Copied from the Exome Variant Server PPY_000013 30/11860 0/7820 30/4040 - - - - - - -
?/? c.233A>G r.(?) p.(Glu78Gly) g.42018541T>C Copied from the Exome Variant Server PPY_000012 590/11844 3/7784 587/4060 - - - - - - -
?/? c.246G>C r.(=) p.(=) g.42018528C>G Copied from the Exome Variant Server PPY_000011 1/11886 0/7810 1/4076 - - - - - - -
?/? c.263+40A>G r.(=) p.(=) g.42018471T>C Copied from the Exome Variant Server PPY_000010 6606/11930 4501/7900 2105/4030 - - - - - - -
?/? c.264-44G>A r.(=) p.(=) g.42018364C>T Copied from the Exome Variant Server PPY_000009 3/12998 3/8596 0/4402 - - - - - - -
?/? c.264-21T>C r.(=) p.(=) g.42018341A>G Copied from the Exome Variant Server PPY_000008 1/13004 1/8600 0/4404 - - - - - - -
?/? c.276G>A r.(=) p.(=) g.42018308C>T Copied from the Exome Variant Server PPY_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*20C>T r.(=) p.(=) g.42018276G>A Copied from the Exome Variant Server PPY_000006 4/13004 2/8600 2/4404 - - - - - - -
?/? c.*28T>A r.(=) p.(=) g.42018268A>T Copied from the Exome Variant Server PPY_000005 1/13004 1/8600 0/4404 - - - - - - -
?/? c.*35C>T r.(=) p.(=) g.42018261G>A Copied from the Exome Variant Server PPY_000004 1/13004 1/8600 0/4404 - - - - - - -
?/? c.*48C>T r.(=) p.(=) g.42018248G>A Copied from the Exome Variant Server PPY_000003 1/13002 1/8600 0/4402 - - - - - - -
?/? c.*69C>T r.(=) p.(=) g.42018227G>A Copied from the Exome Variant Server PPY_000002 2/4566 0/3182 2/1384 - - - - - - -
?/? c.*83C>T r.(=) p.(=) g.42018213G>A Copied from the Exome Variant Server PPY_000001 3/4566 0/3182 3/1384 - - - - - - -
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