All transcript variants in gene CAPN13

Information The variants shown are described using the NM_144575.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.745C>T r.(?) p.(His249Tyr) g.30985977G>A Copied from the Exome Variant Server CAPN13_000134 46/12394 40/8368 6/4026
Legend