Exon | Primer pair | Amino acid change | Nucleotide substitution | No of affecteds identified with mutation |
---|---|---|---|---|
*Novel mutation in this report. | ||||
2 | RNASEL2 | G59S | G175A | 1 (PCGP 1115-02) |
2 | RNASEL2 | I97L | A289C | 2 (PCGP 345-02 and 392-02) |
2 | RNASEL3 | V247M | G739A | 1 (PCGP 168-01)* |
2 | RNASEL4 | E265X | G793T | 1 (PCGP 1115-02) |
2 | RNASEL5 | R462Q | G1385A | Common |
4 | RNASEL7 | D541E | T1623G | Common |