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.1447+20T>C r.(=) p.(=) g.139241332A>G Copied from the Exome Variant Server REPS1_000068 2167/13004 1392/8600 775/4404
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