Unique variants in gene RBM18

Information The variants shown are described using the NM_033117.3 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-16-33C>T r.(=) p.(=) g.125023820G>A Copied from the Exome Variant Server RBM18_000034 5/13006 1/8600 4/4406
1 c.-10A>G r.(=) p.(=) g.125023781T>C Copied from the Exome Variant Server RBM18_000033 1/13006 0/8600 1/4406
1 c.15C>G r.(=) p.(=) g.125023757G>C Copied from the Exome Variant Server RBM18_000032 1/13006 1/8600 0/4406
1 c.40T>G r.(?) p.(Ser14Ala) g.125023732A>C Copied from the Exome Variant Server RBM18_000031 2/13006 0/8600 2/4406
1 c.111C>T r.(=) p.(=) g.125023661G>A Copied from the Exome Variant Server RBM18_000030 1/13006 0/8600 1/4406
1 c.113+9A>G r.(=) p.(=) g.125023650T>C Copied from the Exome Variant Server RBM18_000029 2/13006 2/8600 0/4406
1 c.113+23T>A r.(=) p.(=) g.125023636A>T Copied from the Exome Variant Server RBM18_000028 1/13006 1/8600 0/4406
1 c.113+51G>A r.(=) p.(=) g.125023608C>T Copied from the Exome Variant Server RBM18_000027 1/13006 0/8600 1/4406
1 c.114-35C>G r.(=) p.(=) g.125014287G>C Copied from the Exome Variant Server RBM18_000026 1/13002 0/8600 1/4402
1 c.114-6C>T r.(=) p.(=) g.125014258G>A Copied from the Exome Variant Server RBM18_000025 16/13006 13/8600 3/4406
1 c.175C>T r.(?) p.(His59Tyr) g.125014191G>A Copied from the Exome Variant Server RBM18_000024 1/13006 1/8600 0/4406
1 c.231A>G r.(=) p.(=) g.125014135T>C Copied from the Exome Variant Server RBM18_000023 3/13006 0/8600 3/4406
1 c.241-56A>G r.(=) p.(=) g.125009939T>C Copied from the Exome Variant Server RBM18_000022 6/4566 0/3182 6/1384
1 c.241-36C>G r.(=) p.(=) g.125009919G>C Copied from the Exome Variant Server RBM18_000021 1/13006 1/8600 0/4406
1 c.241-28A>G r.(=) p.(=) g.125009911T>C Copied from the Exome Variant Server RBM18_000020 1/13006 0/8600 1/4406
1 c.320A>T r.(?) p.(Gln107Leu) g.125009804T>A Copied from the Exome Variant Server RBM18_000019 1/13006 1/8600 0/4406
1 c.327+5G>A r.spl? p.? g.125009792C>T Copied from the Exome Variant Server RBM18_000017 4/13006 4/8600 0/4406
1 c.327+24C>T r.(=) p.(=) g.125009773G>A Copied from the Exome Variant Server RBM18_000015 3/13006 3/8600 0/4406
1 c.327+51C>G r.(=) p.(=) g.125009746G>C Copied from the Exome Variant Server RBM18_000018 1/13006 0/8600 1/4406
1 c.328-58T>C r.(=) p.(=) g.125007678A>G Copied from the Exome Variant Server RBM18_000016 17/4566 0/3182 17/1384
1 c.328-23A>G r.(=) p.(=) g.125007643T>C Copied from the Exome Variant Server RBM18_000014 6/13006 2/8600 4/4406
1 c.328-9C>T r.(=) p.(=) g.125007629G>A Copied from the Exome Variant Server RBM18_000013 1/13006 1/8600 0/4406
1 c.329G>A r.(?) p.(Arg110Lys) g.125007619C>T Copied from the Exome Variant Server RBM18_000012 1/13006 1/8600 0/4406
1 c.362C>T r.(?) p.(Pro121Leu) g.125007586G>A Copied from the Exome Variant Server RBM18_000011 1/13006 0/8600 1/4406
1 c.364A>G r.(?) p.(Ile122Val) g.125007584T>C Copied from the Exome Variant Server RBM18_000010 2/13006 2/8600 0/4406
1 c.413+30T>C r.(=) p.(=) g.125007505A>G Copied from the Exome Variant Server RBM18_000009 1/13006 0/8600 1/4406
1 c.413+38G>A r.(=) p.(=) g.125007497C>T Copied from the Exome Variant Server RBM18_000008 1/13006 0/8600 1/4406
1 c.423A>C r.(=) p.(=) g.125004313T>G Copied from the Exome Variant Server RBM18_000007 1/13006 1/8600 0/4406
1 c.435C>T r.(=) p.(=) g.125004301G>A Copied from the Exome Variant Server RBM18_000006 1/13006 0/8600 1/4406
1 c.492G>A r.(=) p.(=) g.125004244C>T Copied from the Exome Variant Server RBM18_000005 1/13006 1/8600 0/4406
1 c.551C>T r.(?) p.(Thr184Ile) g.125004185G>A Copied from the Exome Variant Server RBM18_000004 1/13006 1/8600 0/4406
1 c.566G>A r.(?) p.(Arg189Gln) g.125004170C>T Copied from the Exome Variant Server RBM18_000003 1/13006 1/8600 0/4406
1 c.569G>A r.(?) p.(Arg190Lys) g.125004167C>T Copied from the Exome Variant Server RBM18_000002 1/13006 1/8600 0/4406
1 c.570A>G r.(=) p.(=) g.125004166T>C Copied from the Exome Variant Server RBM18_000001 1/13006 1/8600 0/4406
Legend