All transcript variants in gene DIRAS3

Information The variants shown are described using the NM_004675.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.10G>T r.(?) p.(Ala4Ser) g.68512971C>A Copied from the Exome Variant Server DIRAS3_000024 1/12998 1/8592 0/4406
?/? c.43A>C r.(?) p.(Lys15Gln) g.68512938T>G Copied from the Exome Variant Server DIRAS3_000023 1/12940 1/8562 0/4378
?/? c.67C>T r.(=) p.(=) g.68512914G>A Copied from the Exome Variant Server DIRAS3_000022 2/12996 0/8596 2/4400
?/? c.58_70del r.(?) p.(Pro21Serfs*18) g.68512911_68512923del Copied from the Exome Variant Server DIRAS3_000021 2/12512 1/8248 1/4264
?/? c.81C>T r.(=) p.(=) g.68512900G>A Copied from the Exome Variant Server DIRAS3_000020 1/13006 0/8600 1/4406
?/? c.82G>T r.(?) p.(Ala28Ser) g.68512899C>A Copied from the Exome Variant Server DIRAS3_000019 277/13006 248/8600 29/4406
?/? c.112T>C r.(?) p.(Tyr38His) g.68512869A>G Copied from the Exome Variant Server DIRAS3_000018 1/13006 0/8600 1/4406
?/? c.220T>A r.(?) p.(Tyr74Asn) g.68512761A>T Copied from the Exome Variant Server DIRAS3_000017 1/13006 1/8600 0/4406
?/? c.228G>C r.(?) p.(Gln76His) g.68512753C>G Copied from the Exome Variant Server DIRAS3_000016 1/13006 1/8600 0/4406
?/? c.246C>T r.(=) p.(=) g.68512735G>A Copied from the Exome Variant Server DIRAS3_000015 1/13006 0/8600 1/4406
?/? c.253C>T r.(?) p.(Leu85Phe) g.68512728G>A Copied from the Exome Variant Server DIRAS3_000014 1/13006 0/8600 1/4406
?/? c.288C>T r.(=) p.(=) g.68512693G>A Copied from the Exome Variant Server DIRAS3_000013 1/13006 1/8600 0/4406
?/? c.319G>A r.(?) p.(Ala107Thr) g.68512662C>T Copied from the Exome Variant Server DIRAS3_000012 1/13006 1/8600 0/4406
?/? c.331G>C r.(?) p.(Ala111Pro) g.68512650C>G Copied from the Exome Variant Server DIRAS3_000011 1/13006 1/8600 0/4406
?/? c.339C>G r.(=) p.(=) g.68512642G>C Copied from the Exome Variant Server DIRAS3_000010 1/13006 1/8600 0/4406
?/? c.428A>G r.(?) p.(His143Arg) g.68512553T>C Copied from the Exome Variant Server DIRAS3_000009 1/13006 1/8600 0/4406
?/? c.489G>A r.(=) p.(=) g.68512492C>T Copied from the Exome Variant Server DIRAS3_000008 2/13006 0/8600 2/4406
?/? c.497G>A r.(?) p.(Gly166Asp) g.68512484C>T Copied from the Exome Variant Server DIRAS3_000007 1/13006 1/8600 0/4406
?/? c.526G>A r.(?) p.(Ala176Thr) g.68512455C>T Copied from the Exome Variant Server DIRAS3_000006 1/13006 1/8600 0/4406
?/? c.540T>C r.(=) p.(=) g.68512441A>G Copied from the Exome Variant Server DIRAS3_000005 1352/13006 266/8600 1086/4406
?/? c.585G>A r.(=) p.(=) g.68512396C>T Copied from the Exome Variant Server DIRAS3_000004 1/13006 1/8600 0/4406
?/? c.624del r.(?) p.(Glu208Aspfs*20) g.68512357del Copied from the Exome Variant Server DIRAS3_000003 1/12520 0/8254 1/4266
?/? c.629A>G r.(?) p.(Glu210Gly) g.68512352T>C Copied from the Exome Variant Server DIRAS3_000002 1/13006 1/8600 0/4406
?/? c.650A>G r.(?) p.(Asn217Ser) g.68512331T>C Copied from the Exome Variant Server DIRAS3_000001 1/13006 1/8600 0/4406
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