Full data view for gene RPS7

Information The variants shown are described using the NM_001011.3 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.-18-29C>T r.(=) p.(=) g.3623153C>T Copied from the Exome Variant Server RPS7_000007 1/12916 0/8550 1/4366 - - - - - - -
?/? c.-16C>T r.(=) p.(=) g.3623184C>T Copied from the Exome Variant Server RPS7_000001 2/12988 1/8592 1/4396 - - - - - - -
?/? c.-5A>G r.(=) p.(=) g.3623195A>G Copied from the Exome Variant Server RPS7_000002 1/12992 1/8594 0/4398 - - - - - - -
?/? c.63C>T r.(=) p.(=) g.3623262C>T Copied from the Exome Variant Server RPS7_000003 1/13002 1/8598 0/4404 - - - - - - -
?/? c.75+47C>T r.(=) p.(=) g.3623321C>T Copied from the Exome Variant Server RPS7_000004 1/12872 0/8526 1/4346 - - - - - - -
?/? c.76-65G>T r.(=) p.(=) g.3623342G>T Copied from the Exome Variant Server RPS7_000005 1/4566 1/3182 0/1384 - - - - - - -
?/? c.76-47G>A r.(=) p.(=) g.3623360G>A Copied from the Exome Variant Server RPS7_000006 6/12982 5/8586 1/4396 - - - - - - -
?/? c.76-44C>T r.(=) p.(=) g.3623363C>T Copied from the Exome Variant Server RPS7_000008 2/12984 0/8588 2/4396 - - - - - - -
?/? c.76G>A r.(?) p.(Ala26Thr) g.3623407G>A Copied from the Exome Variant Server RPS7_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.82C>T r.(=) p.(=) g.3623413C>T Copied from the Exome Variant Server RPS7_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.88C>T r.(=) p.(=) g.3623419C>T Copied from the Exome Variant Server RPS7_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.129G>C r.(=) p.(=) g.3623460G>C Copied from the Exome Variant Server RPS7_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.147+24G>C r.(=) p.(=) g.3623502G>C Copied from the Exome Variant Server RPS7_000013 2/13000 1/8598 1/4402 - - - - - - -
?/? c.147+38G>T r.(=) p.(=) g.3623516G>T Copied from the Exome Variant Server RPS7_000014 2/12998 2/8598 0/4400 - - - - - - -
?/? c.147+62A>G r.(=) p.(=) g.3623540A>G Copied from the Exome Variant Server RPS7_000015 3418/4566 2435/3182 983/1384 - - - - - - -
?/? c.147+63G>A r.(=) p.(=) g.3623541G>A Copied from the Exome Variant Server RPS7_000016 81/4566 1/3182 80/1384 - - - - - - -
?/? c.148-26C>A r.(=) p.(=) g.3624051C>A Copied from the Exome Variant Server RPS7_000017 748/12972 600/8578 148/4394 - - - - - - -
?/? c.157G>A r.(?) p.(Val53Ile) g.3624086G>A Copied from the Exome Variant Server RPS7_000018 1/13004 1/8598 0/4406 - - - - - - -
?/? c.190G>C r.(?) p.(Val64Leu) g.3624119G>C Copied from the Exome Variant Server RPS7_000019 1/13002 1/8596 0/4406 - - - - - - -
?/? c.212C>A r.(?) p.(Ser71Tyr) g.3624141C>A Copied from the Exome Variant Server RPS7_000020 1/12992 0/8586 1/4406 - - - - - - -
?/? c.285C>T r.(=) p.(=) g.3624214C>T Copied from the Exome Variant Server RPS7_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.292-57_292-56del r.(=) p.(=) g.3625243_3625244del Copied from the Exome Variant Server RPS7_000022 76/12456 14/8238 62/4218 - - - - - - -
?/? c.292-39C>T r.(=) p.(=) g.3625261C>T Copied from the Exome Variant Server RPS7_000023 396/12994 8/8596 388/4398 - - - - - - -
?/? c.292-27T>C r.(=) p.(=) g.3625273T>C Copied from the Exome Variant Server RPS7_000024 1/12998 1/8600 0/4398 - - - - - - -
?/? c.292-21A>G r.(=) p.(=) g.3625279A>G Copied from the Exome Variant Server RPS7_000025 111/13002 48/8600 63/4402 - - - - - - -
?/? c.292-8C>A r.(=) p.(=) g.3625292C>A Copied from the Exome Variant Server RPS7_000026 1/13004 0/8600 1/4404 - - - - - - -
?/? c.316C>A r.(=) p.(=) g.3625324C>A Copied from the Exome Variant Server RPS7_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.317G>A r.(?) p.(Arg106Gln) g.3625325G>A Copied from the Exome Variant Server RPS7_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.356+29G>A r.(=) p.(=) g.3625393G>A Copied from the Exome Variant Server RPS7_000029 223/13006 108/8600 115/4406 - - - - - - -
?/? c.356+57_356+60del r.(=) p.(=) g.3625421_3625424del Copied from the Exome Variant Server RPS7_000030 208/12506 3/8248 205/4258 - - - - - - -
?/? c.356+65A>G r.(=) p.(=) g.3625429A>G Copied from the Exome Variant Server RPS7_000031 217/4564 2/3180 215/1384 - - - - - - -
?/? c.357-52G>C r.(=) p.(=) g.3627648G>C Copied from the Exome Variant Server RPS7_000032 4693/5734 3085/3982 1608/1752 - - - - - - -
?/? c.357-20_357-19insT r.(=) p.(=) g.3627680_3627681insT Copied from the Exome Variant Server RPS7_000033 1/12520 0/8254 1/4266 - - - - - - -
?/? c.357-10A>G r.(=) p.(=) g.3627690A>G Copied from the Exome Variant Server RPS7_000034 2/13006 1/8600 1/4406 - - - - - - -
?/? c.357-7_357-6insT r.(=) p.(=) g.3627693_3627694insT Copied from the Exome Variant Server RPS7_000035 49/12520 0/8254 49/4266 - - - - - - -
?/? c.405C>T r.(=) p.(=) g.3627748C>T Copied from the Exome Variant Server RPS7_000036 1/13002 0/8596 1/4406 - - - - - - -
?/? c.436G>A r.(?) p.(Val146Ile) g.3627779G>A Copied from the Exome Variant Server RPS7_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.507+4A>G r.spl? p.? g.3627854A>G Copied from the Exome Variant Server RPS7_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.508-12C>A r.(=) p.(=) g.3628383C>A Copied from the Exome Variant Server RPS7_000039 1813/13004 1048/8600 765/4404 - - - - - - -
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