All transcript variants in gene REPS1

Information The variants shown are described using the NM_001128617.1 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.629-42del r.(=) p.(=) g.139265801del Copied from the Exome Variant Server REPS1_000114 32/12518 30/8254 2/4264
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