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. 2022 May 30;45(6):284–290. doi: 10.1097/CJI.0000000000000425

TABLE 2.

Identified Deleterious Single-nucleotide Polymorphisms

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