p.H126CfsX2 His126CysfsTer2 (p.H126CfsX2 His126CysfsTer2 in primary sequence with 28 amino-acids signal peptide) H126frameshift 2-bp deletion (376delCA) CAT>T results in a truncated protein 2amino acids after frameshift lacking the active site and is therefore inactive. Found as heterozygote and compound heterozygote with G115D/I3E4-14C
