POLR3A and Shwachman-Diamond syndrome 1: (AF of 0.003652), POLR3A:NM_007055.4:c.1909+22 G > A (AF of 0.005418) and EYS:NM_001142800.2:c.2137+1 G > A (AF of 0.007348) associated with thrombocytopenia-absent radius syndrome, Shwachman-Diamond syndrome 1, Smith-Lemli-Opitz syndrome, Hypomyelinating leukodystrophy, and Retinitis pigmentosa 25, respectively (see complex compound heterozygous inheritance below).