All transcript variants in gene EFHC2

Information The variants shown are described using the NM_025184.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.1950-44G>A r.(=) p.(=) g.44035674C>T Copied from the Exome Variant Server EFHC2_000013 421/9377 356/6316 65/3061
?/? c.1950-39C>A r.(=) p.(=) g.44035669G>T Copied from the Exome Variant Server EFHC2_000012 3/9392 3/6331 0/3061
?/? c.1950-26del r.(=) p.(=) g.44035656del Copied from the Exome Variant Server EFHC2_000011 3/9109 3/6128 0/2981
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