Full data view for gene EIF1B

Information The variants shown are described using the NM_005875.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-21C>G r.(=) p.(=) g.40351412C>G Copied from the Exome Variant Server EIF1B_000001 2/13006 2/8600 0/4406 - - - - - - -
?/? c.-3C>G r.(=) p.(=) g.40351430C>G Copied from the Exome Variant Server EIF1B_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.8C>T r.(?) p.(Thr3Ile) g.40351440C>T Copied from the Exome Variant Server EIF1B_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.31+21C>T r.(=) p.(=) g.40351484C>T Copied from the Exome Variant Server EIF1B_000004 3972/13006 2788/8600 1184/4406 - - - - - - -
?/? c.31+49G>A r.(=) p.(=) g.40351512G>A Copied from the Exome Variant Server EIF1B_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.32-32T>C r.(=) p.(=) g.40352352T>C Copied from the Exome Variant Server EIF1B_000006 3/12024 1/8154 2/3870 - - - - - - -
?/? c.105C>T r.(=) p.(=) g.40352457C>T Copied from the Exome Variant Server EIF1B_000007 38/13006 0/8600 38/4406 - - - - - - -
?/? c.153A>G r.(=) p.(=) g.40352505A>G Copied from the Exome Variant Server EIF1B_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.276C>T r.(=) p.(=) g.40353041C>T Copied from the Exome Variant Server EIF1B_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.297G>A r.(=) p.(=) g.40353062G>A Copied from the Exome Variant Server EIF1B_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.297+22G>A r.(=) p.(=) g.40353084G>A Copied from the Exome Variant Server EIF1B_000011 18/13006 0/8600 18/4406 - - - - - - -
?/? c.298-51A>C r.(=) p.(=) g.40353410A>C Copied from the Exome Variant Server EIF1B_000012 1/12964 0/8586 1/4378 - - - - - - -
?/? c.298-35_298-34del r.(=) p.(=) g.40353426_40353427del Copied from the Exome Variant Server EIF1B_000013 4967/12496 3094/8244 1873/4252 - - - - - - -
?/? c.341A>G r.(=) p.(=) g.40353504A>G Copied from the Exome Variant Server EIF1B_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*4G>A r.(=) p.(=) g.40353509G>A Copied from the Exome Variant Server EIF1B_000015 19/13006 19/8600 0/4406 - - - - - - -
?/? c.*77T>G r.(=) p.(=) g.40353582T>G Copied from the Exome Variant Server EIF1B_000016 10/4566 10/3182 0/1384 - - - - - - -
?/? c.*79C>T r.(=) p.(=) g.40353584C>T Copied from the Exome Variant Server EIF1B_000017 1/4566 0/3182 1/1384 - - - - - - -
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