DATA AVAILABILITY STATEMENT
All data relevant to the study are included in the article or uploaded as supplementary information. All clinically relevant variants had been submitted to LOVD database (https://databases.lovd.nl/) under the accession number: 00373535, 00373536, 00373656, 00373658, 00373659, 00373713, 00373714, 00373715, 00373716, 00373717, 00373718, 00373719, 00373720, 00373721, 00373722, 00373723, 00373725, 00373728, 00373729, 00373737, 00373738, 00373739, 00373740, 00373741, 00373742, 00373789, 00373790, 00373800, 00373801.