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.916+50A>G r.(=) p.(=) g.139264940T>C Copied from the Exome Variant Server REPS1_000100 1/13000 0/8600 1/4400
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