All transcript variants in gene BTBD18

Information The variants shown are described using the NM_001145101.1 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.124+12G>A r.(=) p.(=) g.57518525C>T Copied from the Exome Variant Server BTBD18_000016 1/4566 0/3182 1/1384
?/? c.124+14C>T r.(=) p.(=) g.57518523G>A Copied from the Exome Variant Server BTBD18_000015 3/4566 0/3182 3/1384
?/? c.351G>A r.(=) p.(=) g.57513394C>T Copied from the Exome Variant Server BTBD18_000014 41/4566 1/3182 40/1384
?/? c.417G>A r.(=) p.(=) g.57513328C>T Copied from the Exome Variant Server BTBD18_000013 1/4566 1/3182 0/1384
?/? c.559G>C r.(?) p.(Glu187Gln) g.57513186C>G Copied from the Exome Variant Server BTBD18_000012 1/4566 1/3182 0/1384
?/? c.564G>A r.(=) p.(=) g.57513181C>T Copied from the Exome Variant Server BTBD18_000011 1/4566 1/3182 0/1384
?/? c.604T>C r.(?) p.(Ser202Pro) g.57513141A>G Copied from the Exome Variant Server BTBD18_000010 40/4566 0/3182 40/1384
?/? c.638C>T r.(?) p.(Ala213Val) g.57513107G>A Copied from the Exome Variant Server BTBD18_000009 1/4566 0/3182 1/1384
?/? c.884G>A r.(?) p.(Arg295Gln) g.57512861C>T Copied from the Exome Variant Server BTBD18_000008 1/4566 0/3182 1/1384
?/? c.968C>A r.(?) p.(Thr323Asn) g.57512777G>T Copied from the Exome Variant Server BTBD18_000007 1/4566 0/3182 1/1384
?/? c.1094A>G r.(?) p.(Asn365Ser) g.57512651T>C Copied from the Exome Variant Server BTBD18_000006 1/4566 1/3182 0/1384
?/? c.1172_1174del r.(?) p.(Gly391del) g.57512571_57512573del Copied from the Exome Variant Server BTBD18_000005 3/6362 3/4218 0/2144
?/? c.1212T>C r.(=) p.(=) g.57512533A>G Copied from the Exome Variant Server BTBD18_000004 28/4566 0/3182 28/1384
?/? c.1839C>T r.(=) p.(=) g.57511906G>A Copied from the Exome Variant Server BTBD18_000003 1/4566 1/3182 0/1384
?/? c.2023_2028del r.(?) p.(Glu675_Glu676del) g.57511717_57511722del Copied from the Exome Variant Server BTBD18_000002 5/7324 2/4762 3/2562
?/? c.2103C>T r.(=) p.(=) g.57511642G>A Copied from the Exome Variant Server BTBD18_000001 1/4566 1/3182 0/1384
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