The mutations in the SERPING1 ( c.1A>C (p.Met1Leu), c.1A>G (p.Met1Val), c.2T>G (p.Met1Arg)and c.2T>G (p.Met1Thr)) alter the initiation codon of the transcript leading to the N-truncated variant with a downstream translation initiation site at Met53 resulting in the deletion of Met1- Lys52 at the protein level. One EWAS represents all variants mentioned above and is named following the HGVS recommendations as SEARPING1 A2_M53del.