Full data view for gene PRPS2

Information The variants shown are described using the NM_002765.4 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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.-32G>A r.(=) p.(=) g.12809585G>A Copied from the Exome Variant Server PRPS2_000001 1/10257 1/6513 0/3744 - - - - - - -
?/? c.30C>T r.(=) p.(=) g.12809646C>T Copied from the Exome Variant Server PRPS2_000002 1/10382 0/6613 1/3769 - - - - - - -
?/? c.45G>A r.(=) p.(=) g.12809661G>A Copied from the Exome Variant Server PRPS2_000003 5915/10431 4189/6642 1726/3789 - - - - - - -
?/? c.123-32G>A r.(=) p.(=) g.12817294G>A Copied from the Exome Variant Server PRPS2_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.123-3T>C r.spl? p.? g.12817323T>C Copied from the Exome Variant Server PRPS2_000005 2/10563 0/6728 2/3835 - - - - - - -
?/? c.123C>T r.(=) p.(=) g.12817326C>T Copied from the Exome Variant Server PRPS2_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.210C>T r.(=) p.(=) g.12817413C>T Copied from the Exome Variant Server PRPS2_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.225T>C r.(=) p.(=) g.12817428T>C Copied from the Exome Variant Server PRPS2_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.255A>G r.(=) p.(=) g.12817458A>G Copied from the Exome Variant Server PRPS2_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.261C>T r.(=) p.(=) g.12817464C>T Copied from the Exome Variant Server PRPS2_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.262G>A r.(?) p.(Val88Met) g.12817465G>A Copied from the Exome Variant Server PRPS2_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.282C>T r.(=) p.(=) g.12817485C>T Copied from the Exome Variant Server PRPS2_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.309T>C r.(=) p.(=) g.12827355T>C Copied from the Exome Variant Server PRPS2_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.351G>A r.(=) p.(=) g.12827397G>A Copied from the Exome Variant Server PRPS2_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.405+49del r.(=) p.(=) g.12827500del Copied from the Exome Variant Server PRPS2_000015 1/10205 0/6484 1/3721 - - - - - - -
?/? c.406-52G>C r.(=) p.(=) g.12828089G>C Copied from the Exome Variant Server PRPS2_000016 561/4405 263/3046 298/1359 - - - - - - -
?/? c.406-51_406-47del r.(=) p.(=) g.12828090_12828094del Copied from the Exome Variant Server PRPS2_000017 1454/10191 557/6471 897/3720 - - - - - - -
?/? c.406-51_406-47dup r.(=) p.(=) g.12828090_12828094dup Copied from the Exome Variant Server PRPS2_000018 823/10191 392/6471 431/3720 - - - - - - -
?/? c.510T>C r.(=) p.(=) g.12828245T>C Copied from the Exome Variant Server PRPS2_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.530+23C>T r.(=) p.(=) g.12828288C>T Copied from the Exome Variant Server PRPS2_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.530+43T>C r.(=) p.(=) g.12828308T>C Copied from the Exome Variant Server PRPS2_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.531-52A>G r.(=) p.(=) g.12837574A>G Copied from the Exome Variant Server PRPS2_000022 1/4525 1/3107 0/1418 - - - - - - -
?/? c.531-48G>A r.(=) p.(=) g.12837578G>A Copied from the Exome Variant Server PRPS2_000023 4/10563 4/6728 0/3835 - - - - - - -
?/? c.553T>C r.(=) p.(=) g.12837648T>C Copied from the Exome Variant Server PRPS2_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.596C>T r.(?) p.(Ala199Val) g.12837691C>T Copied from the Exome Variant Server PRPS2_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.597G>A r.(=) p.(=) g.12837692G>A Copied from the Exome Variant Server PRPS2_000026 2/10563 2/6728 0/3835 - - - - - - -
?/? c.641G>A r.(?) p.(Arg214His) g.12837736G>A Copied from the Exome Variant Server PRPS2_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.654C>T r.(=) p.(=) g.12837749C>T Copied from the Exome Variant Server PRPS2_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.685A>G r.(?) p.(Ile229Val) g.12837780A>G Copied from the Exome Variant Server PRPS2_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.704+23C>T r.(=) p.(=) g.12837822C>T Copied from the Exome Variant Server PRPS2_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.705-325del r.(=) p.(=) g.12838438del Copied from the Exome Variant Server PRPS2_000031 3/5735 0/3649 3/2086 - - - - - - -
?/? c.705-43A>T r.(=) p.(=) g.12838720A>T Copied from the Exome Variant Server PRPS2_000032 4/10563 3/6728 1/3835 - - - - - - -
?/? c.705-31C>T r.(=) p.(=) g.12838732C>T Copied from the Exome Variant Server PRPS2_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.772A>G r.(?) p.(Ile258Val) g.12838830A>G Copied from the Exome Variant Server PRPS2_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.801G>A r.(=) p.(=) g.12838859G>A Copied from the Exome Variant Server PRPS2_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.828G>A r.(=) p.(=) g.12838886G>A Copied from the Exome Variant Server PRPS2_000036 2/10563 1/6728 1/3835 - - - - - - -
?/? c.864+12A>G r.(=) p.(=) g.12838934A>G Copied from the Exome Variant Server PRPS2_000037 6082/10563 4272/6728 1810/3835 - - - - - - -
?/? c.865-11T>C r.(=) p.(=) g.12840812T>C Copied from the Exome Variant Server PRPS2_000038 517/10563 4/6728 513/3835 - - - - - - -
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