Frameshift deletion of 4:137015 and 4:137016 , SNP 137014 T to C, and SNP 137017 T to C resulting in addition of ATLVASFIFICHLLSMFIGGGRTGFGNRGLSRKAQNVPCKANSSPNVEQP after leucine 190 of RH isoform and premature truncation after these novel amino acids.
Bases 4:137014..137017 of anne are replaced with "CC" leading to a frameshift and early translation termination after the additon of 50 novel amino acids (ATLVASFIFICHLLSMFIGGGRTGFGNRGLSRKAQNVPCKANSSPNVEQP).