Unique variants in gene RPS19

Information The variants shown are described using the NM_001022.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.1-45C>T r.(=) p.(=) g.42364800C>T Copied from the Exome Variant Server RPS19_000001 236/13006 22/8600 214/4406
1 c.1-44G>A r.(=) p.(=) g.42364801G>A Copied from the Exome Variant Server RPS19_000002 1/13006 1/8600 0/4406
1 c.1-40C>T r.(=) p.(=) g.42364805C>T Copied from the Exome Variant Server RPS19_000003 1/13006 1/8600 0/4406
1 c.1-32C>A r.(=) p.(=) g.42364813C>A Copied from the Exome Variant Server RPS19_000004 2/13006 0/8600 2/4406
1 c.1-9C>A r.(=) p.(=) g.42364836C>A Copied from the Exome Variant Server RPS19_000005 1/13006 1/8600 0/4406
1 c.1-3C>T r.spl? p.? g.42364842C>T Copied from the Exome Variant Server RPS19_000006 1/13006 1/8600 0/4406
1 c.52C>T r.(=) p.(=) g.42364896C>T Copied from the Exome Variant Server RPS19_000007 1/13006 1/8600 0/4406
1 c.59C>T r.(?) p.(Ala20Val) g.42364903C>T Copied from the Exome Variant Server RPS19_000008 1/13006 1/8600 0/4406
1 c.60C>G r.(=) p.(=) g.42364904C>G Copied from the Exome Variant Server RPS19_000009 7/13006 7/8600 0/4406
1 c.68A>G r.(?) p.(Lys23Arg) g.42364912A>G Copied from the Exome Variant Server RPS19_000010 3/13006 3/8600 0/4406
1 c.71+19G>A r.(=) p.(=) g.42364934G>A Copied from the Exome Variant Server RPS19_000011 2/13006 2/8600 0/4406
1 c.71+27C>G r.(=) p.(=) g.42364942C>G Copied from the Exome Variant Server RPS19_000012 1/13006 0/8600 1/4406
1 c.71+50C>T r.(=) p.(=) g.42364965C>T Copied from the Exome Variant Server RPS19_000013 1/13006 1/8600 0/4406
1 c.72-33T>C r.(=) p.(=) g.42365148T>C Copied from the Exome Variant Server RPS19_000014 3/13006 0/8600 3/4406
1 c.72-5C>T r.spl? p.? g.42365176C>T Copied from the Exome Variant Server RPS19_000015 1/13006 1/8600 0/4406
1 c.75C>T r.(=) p.(=) g.42365184C>T Copied from the Exome Variant Server RPS19_000016 1/13006 0/8600 1/4406
1 c.81G>A r.(=) p.(=) g.42365190G>A Copied from the Exome Variant Server RPS19_000017 1/13006 0/8600 1/4406
1 c.126C>T r.(=) p.(=) g.42365235C>T Copied from the Exome Variant Server RPS19_000018 1/13006 1/8600 0/4406
1 c.141C>T r.(=) p.(=) g.42365250C>T Copied from the Exome Variant Server RPS19_000019 1/13006 1/8600 0/4406
1 c.164C>T r.(?) p.(Thr55Met) g.42365273C>T Copied from the Exome Variant Server RPS19_000020 7/13006 5/8600 2/4406
1 c.172+21G>T r.(=) p.(=) g.42365302G>T Copied from the Exome Variant Server RPS19_000021 2/13006 2/8600 0/4406
1 c.172+25G>C r.(=) p.(=) g.42365306G>C Copied from the Exome Variant Server RPS19_000022 1/13006 0/8600 1/4406
1 c.172+33G>A r.(=) p.(=) g.42365314G>A Copied from the Exome Variant Server RPS19_000023 1/13006 1/8600 0/4406
1 c.179C>T r.(?) p.(Thr60Ile) g.42373107C>T Copied from the Exome Variant Server RPS19_000024 1/12766 1/8454 0/4312
1 c.192G>C r.(=) p.(=) g.42373120G>C Copied from the Exome Variant Server RPS19_000025 1/12888 1/8526 0/4362
1 c.228C>A r.(=) p.(=) g.42373156C>A Copied from the Exome Variant Server RPS19_000026 1/13000 1/8596 0/4404
1 c.231G>C r.(?) p.(Lys77Asn) g.42373159G>C Copied from the Exome Variant Server RPS19_000027 1/13000 0/8596 1/4404
1 c.258C>T r.(=) p.(=) g.42373186C>T Copied from the Exome Variant Server RPS19_000028 1/13006 0/8600 1/4406
1 c.276C>T r.(=) p.(=) g.42373204C>T Copied from the Exome Variant Server RPS19_000029 1/13006 0/8600 1/4406
1 c.356+14G>A r.(=) p.(=) g.42373298G>A Copied from the Exome Variant Server RPS19_000030 7213/13004 4124/8598 3089/4406
1 c.356+18G>C r.(=) p.(=) g.42373302G>C Copied from the Exome Variant Server RPS19_000031 175/13004 153/8598 22/4406
1 c.356+19G>A r.(=) p.(=) g.42373303G>A Copied from the Exome Variant Server RPS19_000032 1/13004 0/8598 1/4406
1 c.356+47C>T r.(=) p.(=) g.42373331C>T Copied from the Exome Variant Server RPS19_000033 1/12952 1/8568 0/4384
1 c.357-47C>T r.(=) p.(=) g.42373722C>T Copied from the Exome Variant Server RPS19_000034 1/13006 0/8600 1/4406
1 c.357-29G>A r.(=) p.(=) g.42373740G>A Copied from the Exome Variant Server RPS19_000035 4/13006 0/8600 4/4406
1 c.357-21A>G r.(=) p.(=) g.42373748A>G Copied from the Exome Variant Server RPS19_000036 5/13006 0/8600 5/4406
1 c.357C>T r.(=) p.(=) g.42373769C>T Copied from the Exome Variant Server RPS19_000037 1/13006 1/8600 0/4406
1 c.360C>T r.(=) p.(=) g.42373772C>T Copied from the Exome Variant Server RPS19_000038 1/13006 0/8600 1/4406
1 c.406G>A r.(?) p.(Gly136Arg) g.42373818G>A Copied from the Exome Variant Server RPS19_000039 1/13006 0/8600 1/4406
1 c.411+12G>A r.(=) p.(=) g.42373835G>A Copied from the Exome Variant Server RPS19_000040 41/13006 37/8600 4/4406
1 c.411+39C>T r.(=) p.(=) g.42373862C>T Copied from the Exome Variant Server RPS19_000041 1/13006 1/8600 0/4406
1 c.411+40G>A r.(=) p.(=) g.42373863G>A Copied from the Exome Variant Server RPS19_000042 1/13006 0/8600 1/4406
1 c.411+70C>T r.(=) p.(=) g.42373893C>T Copied from the Exome Variant Server RPS19_000043 3378/4566 2102/3182 1276/1384
1 c.412-75A>G r.(=) p.(=) g.42375344A>G Copied from the Exome Variant Server RPS19_000044 1/4566 1/3182 0/1384
1 c.412-29A>G r.(=) p.(=) g.42375390A>G Copied from the Exome Variant Server RPS19_000045 3/13006 0/8600 3/4406
1 c.412-25T>A r.(=) p.(=) g.42375394T>A Copied from the Exome Variant Server RPS19_000046 3/13006 0/8600 3/4406
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