All transcript variants in gene RPL30

Information The variants shown are described using the NM_000989.3 transcript reference sequence.

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

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-32-11G>C r.(=) p.(=) g.99057638C>G Copied from the Exome Variant Server RPL30_000034 1/13006 1/8600 0/4406
?/? c.-32-11_-32-10del r.(=) p.(=) g.99057637_99057638del Copied from the Exome Variant Server RPL30_000033 2/12518 1/8254 1/4264
?/? c.-32-4C>T r.spl? p.? g.99057631G>A Copied from the Exome Variant Server RPL30_000032 16/13006 0/8600 16/4406
?/? c.-14C>T r.(=) p.(=) g.99057609G>A Copied from the Exome Variant Server RPL30_000031 3/13006 2/8600 1/4406
?/? c.21+10G>T r.(=) p.(=) g.99057565C>A Copied from the Exome Variant Server RPL30_000030 73/13006 2/8600 71/4406
?/? c.21+31A>G r.(=) p.(=) g.99057544T>C Copied from the Exome Variant Server RPL30_000029 1/13006 1/8600 0/4406
?/? c.21+49C>T r.(=) p.(=) g.99057526G>A Copied from the Exome Variant Server RPL30_000028 5887/13006 4979/8600 908/4406
?/? c.21+88A>T r.(=) p.(=) g.99057487T>A Copied from the Exome Variant Server RPL30_000027 1/4566 1/3182 0/1384
?/? c.22-9G>A r.(=) p.(=) g.99057325C>T Copied from the Exome Variant Server RPL30_000026 12/13006 0/8600 12/4406
?/? c.30G>T r.(=) p.(=) g.99057308C>A Copied from the Exome Variant Server RPL30_000025 2/13006 0/8600 2/4406
?/? c.36G>A r.(=) p.(=) g.99057302C>T Copied from the Exome Variant Server RPL30_000024 1/13006 0/8600 1/4406
?/? c.57A>G r.(=) p.(=) g.99057281T>C Copied from the Exome Variant Server RPL30_000023 2/13006 2/8600 0/4406
?/? c.102T>C r.(=) p.(=) g.99057236A>G Copied from the Exome Variant Server RPL30_000022 1/13006 0/8600 1/4406
?/? c.167+7G>T r.(=) p.(=) g.99057164C>A Copied from the Exome Variant Server RPL30_000021 1/13006 0/8600 1/4406
?/? c.167+12G>A r.(=) p.(=) g.99057159C>T Copied from the Exome Variant Server RPL30_000020 238/13006 3/8600 235/4406
?/? c.167+12_167+13del r.(=) p.(=) g.99057158_99057159del Copied from the Exome Variant Server RPL30_000019 24/12518 14/8254 10/4264
?/? c.167+19C>A r.(=) p.(=) g.99057152G>T Copied from the Exome Variant Server RPL30_000018 1/13006 1/8600 0/4406
?/? c.167+21G>T r.(=) p.(=) g.99057150C>A Copied from the Exome Variant Server RPL30_000017 5886/13006 4982/8600 904/4406
?/? c.167+34G>T r.(=) p.(=) g.99057137C>A Copied from the Exome Variant Server RPL30_000016 1/13006 1/8600 0/4406
?/? c.168-34G>A r.(=) p.(=) g.99055037C>T Copied from the Exome Variant Server RPL30_000015 1/13006 1/8600 0/4406
?/? c.168-9T>A r.(=) p.(=) g.99055012A>T Copied from the Exome Variant Server RPL30_000014 1/13006 1/8600 0/4406
?/? c.252A>G r.(=) p.(=) g.99054919T>C Copied from the Exome Variant Server RPL30_000013 1/13006 1/8600 0/4406
?/? c.255C>T r.(=) p.(=) g.99054916G>A Copied from the Exome Variant Server RPL30_000012 15/13006 14/8600 1/4406
?/? c.298+383T>C r.(=) p.(=) g.99054490A>G Copied from the Exome Variant Server RPL30_000011 1/5732 1/3982 0/1750
?/? c.299-374T>C r.(=) p.(=) g.99054452A>G Copied from the Exome Variant Server RPL30_000010 28/5734 27/3982 1/1752
?/? c.299-361A>T r.(=) p.(=) g.99054439T>A Copied from the Exome Variant Server RPL30_000009 1/5734 0/3982 1/1752
?/? c.299-255T>C r.(=) p.(=) g.99054333A>G Copied from the Exome Variant Server RPL30_000008 40/5734 0/3982 40/1752
?/? c.299-28T>G r.(=) p.(=) g.99054106A>C Copied from the Exome Variant Server RPL30_000007 1/12912 1/8572 0/4340
?/? c.299-23G>A r.(=) p.(=) g.99054101C>T Copied from the Exome Variant Server RPL30_000006 2/12936 2/8580 0/4356
?/? c.299-11T>A r.(=) p.(=) g.99054089A>T Copied from the Exome Variant Server RPL30_000005 3/12956 3/8584 0/4372
?/? c.335C>T r.(?) p.(Thr112Ile) g.99054042G>A Copied from the Exome Variant Server RPL30_000004 1/13006 1/8600 0/4406
?/? c.*11C>T r.(=) p.(=) g.99054018G>A Copied from the Exome Variant Server RPL30_000003 148/13004 133/8600 15/4404
?/? c.*39C>G r.(=) p.(=) g.99053990G>C Copied from the Exome Variant Server RPL30_000002 185/13002 1/8598 184/4404
?/? c.*63del r.(=) p.(=) g.99053966del Copied from the Exome Variant Server RPL30_000001 208/12504 21/8246 187/4258
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