TABLE 2.
Gene | rsID | Position | Transcript ID | Coding Sequence Change | Protein Change | Global Allele Frequency |
---|---|---|---|---|---|---|
MEFV | rs11466023 | chr16:3249586 | NM_000243.3 | c.1105G>A | P369S | 0.020 |
MEFV | rs11466024 | chr16:3249468 | NM_000243.2 | c.1223C>T | R408Q | 0.017 |
MC1R | rs1805009 | chr16:89920138 | NM_002386.3 | c.880G>C | D294H | 0.003 |