All transcript variants in gene RPS19BP1

Information The variants shown are described using the NM_194326.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.6C>T r.(=) p.(=) g.39928738G>A Copied from the Exome Variant Server RPS19BP1_000031 119/10210 9/6848 110/3362
?/? c.52+23C>T r.(=) p.(=) g.39928669G>A Copied from the Exome Variant Server RPS19BP1_000030 2/12424 2/8248 0/4176
?/? c.53-41C>T r.(=) p.(=) g.39928569G>A Copied from the Exome Variant Server RPS19BP1_000029 28/13006 1/8600 27/4406
?/? c.53-25T>C r.(=) p.(=) g.39928553A>G Copied from the Exome Variant Server RPS19BP1_000028 3/13006 0/8600 3/4406
?/? c.53-19C>T r.(=) p.(=) g.39928547G>A Copied from the Exome Variant Server RPS19BP1_000027 87/13006 1/8600 86/4406
?/? c.53-14C>A r.(=) p.(=) g.39928542G>T Copied from the Exome Variant Server RPS19BP1_000026 1/13006 1/8600 0/4406
?/? c.64C>T r.(?) p.(Pro22Ser) g.39928517G>A Copied from the Exome Variant Server RPS19BP1_000025 88/13006 0/8600 88/4406
?/? c.181+15G>A r.(=) p.(=) g.39928385C>T Copied from the Exome Variant Server RPS19BP1_000024 1/13006 0/8600 1/4406
?/? c.181+26G>A r.(=) p.(=) g.39928374C>T Copied from the Exome Variant Server RPS19BP1_000023 1/13006 1/8600 0/4406
?/? c.181+39C>T r.(=) p.(=) g.39928361G>A Copied from the Exome Variant Server RPS19BP1_000022 1/13006 0/8600 1/4406
?/? c.181+45C>T r.(=) p.(=) g.39928355G>A Copied from the Exome Variant Server RPS19BP1_000021 1/13006 1/8600 0/4406
?/? c.182-44G>C r.(=) p.(=) g.39925966C>G Copied from the Exome Variant Server RPS19BP1_000020 1/13006 0/8600 1/4406
?/? c.182-38G>A r.(=) p.(=) g.39925960C>T Copied from the Exome Variant Server RPS19BP1_000019 25/13006 0/8600 25/4406
?/? c.191G>A r.(?) p.(Arg64Gln) g.39925913C>T Copied from the Exome Variant Server RPS19BP1_000018 3/13006 3/8600 0/4406
?/? c.197G>A r.(?) p.(Arg66Gln) g.39925907C>T Copied from the Exome Variant Server RPS19BP1_000017 1/13006 0/8600 1/4406
?/? c.245C>A r.(?) p.(Thr82Lys) g.39925859G>T Copied from the Exome Variant Server RPS19BP1_000016 2/13006 2/8600 0/4406
?/? c.264G>A r.(=) p.(=) g.39925840C>T Copied from the Exome Variant Server RPS19BP1_000015 44/13006 0/8600 44/4406
?/? c.279+8G>T r.(=) p.(=) g.39925817C>A Copied from the Exome Variant Server RPS19BP1_000014 1/13006 1/8600 0/4406
?/? c.279+10G>C r.(=) p.(=) g.39925815C>G Copied from the Exome Variant Server RPS19BP1_000013 3/13006 3/8600 0/4406
?/? c.279+19A>G r.(=) p.(=) g.39925806T>C Copied from the Exome Variant Server RPS19BP1_000012 245/13006 4/8600 241/4406
?/? c.279+40G>C r.(=) p.(=) g.39925785C>G Copied from the Exome Variant Server RPS19BP1_000011 1/13006 0/8600 1/4406
?/? c.280-20C>A r.(=) p.(=) g.39925648G>T Copied from the Exome Variant Server RPS19BP1_000010 1/13004 1/8598 0/4406
?/? c.280-14C>G r.(=) p.(=) g.39925642G>C Copied from the Exome Variant Server RPS19BP1_000009 91/13004 1/8598 90/4406
?/? c.294C>T r.(=) p.(=) g.39925614G>A Copied from the Exome Variant Server RPS19BP1_000008 2/13006 0/8600 2/4406
?/? c.301C>T r.(?) p.(Arg101Cys) g.39925607G>A Copied from the Exome Variant Server RPS19BP1_000007 1/13006 0/8600 1/4406
?/? c.308C>T r.(?) p.(Ala103Val) g.39925600G>A Copied from the Exome Variant Server RPS19BP1_000006 2/13006 0/8600 2/4406
?/? c.322G>A r.(?) p.(Val108Met) g.39925586C>T Copied from the Exome Variant Server RPS19BP1_000005 2/13006 0/8600 2/4406
?/? c.334A>G r.(?) p.(Lys112Glu) g.39925574T>C Copied from the Exome Variant Server RPS19BP1_000004 2/13006 2/8600 0/4406
?/? c.410_411insA r.(=) p.(=) g.39925497_39925498insT Copied from the Exome Variant Server RPS19BP1_000003 2/12518 1/8254 1/4264
?/? c.*16C>T r.(=) p.(=) g.39925481G>A Copied from the Exome Variant Server RPS19BP1_000002 1/13006 1/8600 0/4406
?/? c.*33A>T r.(=) p.(=) g.39925464T>A Copied from the Exome Variant Server RPS19BP1_000001 1/13006 1/8600 0/4406
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