Unique variants in gene RPS29

Information The variants shown are described using the NM_001030001.1 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-31_-28del r.(=) p.(=) g.50053092_50053095del Copied from the Exome Variant Server RPS29_000026 2/12518 2/8254 0/4264
1 c.9C>T r.(=) p.(=) g.50053056G>A Copied from the Exome Variant Server RPS29_000025 1/13006 1/8600 0/4406
1 c.18G>A r.(=) p.(=) g.50053047C>T Copied from the Exome Variant Server RPS29_000024 11/13004 0/8598 11/4406
1 c.20A>G r.(?) p.(Tyr7Cys) g.50053045T>C Copied from the Exome Variant Server RPS29_000023 1/13002 1/8596 0/4406
1 c.62+14T>C r.(=) p.(=) g.50052989A>G Copied from the Exome Variant Server RPS29_000022 3/13006 3/8600 0/4406
1 c.62+29G>A r.(=) p.(=) g.50052974C>T Copied from the Exome Variant Server RPS29_000021 1/13006 1/8600 0/4406
1 c.62+36C>T r.(=) p.(=) g.50052967G>A Copied from the Exome Variant Server RPS29_000020 1/13006 1/8600 0/4406
1 c.62+50C>T r.(=) p.(=) g.50052953G>A Copied from the Exome Variant Server RPS29_000019 166/13006 3/8600 163/4406
1 c.63-45T>C r.(=) p.(=) g.50052812A>G Copied from the Exome Variant Server RPS29_000018 1/13006 0/8600 1/4406
1 c.63-20C>A r.(=) p.(=) g.50052787G>T Copied from the Exome Variant Server RPS29_000017 2/13006 2/8600 0/4406
1 c.63-14C>T r.(=) p.(=) g.50052781G>A Copied from the Exome Variant Server RPS29_000016 4/13006 0/8600 4/4406
1 c.126T>C r.(=) p.(=) g.50052704A>G Copied from the Exome Variant Server RPS29_000015 1/13006 0/8600 1/4406
1 c.156C>T r.(=) p.(=) g.50052674G>A Copied from the Exome Variant Server RPS29_000014 1/13006 1/8600 0/4406
1 c.162+4G>A r.spl? p.? g.50052664C>T Copied from the Exome Variant Server RPS29_000013 1/13006 1/8600 0/4406
1 c.162+6C>T r.(=) p.(=) g.50052662G>A Copied from the Exome Variant Server RPS29_000012 1/13006 1/8600 0/4406
1 c.162+7G>C r.(=) p.(=) g.50052661C>G Copied from the Exome Variant Server RPS29_000011 1/13006 1/8600 0/4406
1 c.162+17G>T r.(=) p.(=) g.50052651C>A Copied from the Exome Variant Server RPS29_000010 1/13006 1/8600 0/4406
1 c.162+38G>C r.(=) p.(=) g.50052630C>G Copied from the Exome Variant Server RPS29_000009 1/13006 1/8600 0/4406
1 c.162+2288T>G r.(=) p.(=) g.50050380A>C Copied from the Exome Variant Server RPS29_000008 4/12988 1/8588 3/4400
1 c.163-74C>T r.(=) p.(=) g.50044645G>A Copied from the Exome Variant Server RPS29_000007 1/4566 1/3182 0/1384
1 c.163-46C>T r.(=) p.(=) g.50044617G>A Copied from the Exome Variant Server RPS29_000006 1/12966 0/8572 1/4394
1 c.196T>G r.(?) p.(Trp66Gly) g.50044538A>C Copied from the Exome Variant Server RPS29_000005 1/13006 1/8600 0/4406
1 c.197G>A r.(?) p.(Trp66*) g.50044537C>T Copied from the Exome Variant Server RPS29_000004 1/13006 0/8600 1/4406
1 c.*38C>T r.(=) p.(=) g.50044492G>A Copied from the Exome Variant Server RPS29_000003 1/13006 1/8600 0/4406
1 c.*46C>T r.(=) p.(=) g.50044484G>A Copied from the Exome Variant Server RPS29_000002 12/13006 11/8600 1/4406
1 c.*65C>T r.(=) p.(=) g.50044465G>A Copied from the Exome Variant Server RPS29_000001 24/4566 23/3182 1/1384
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