Clinical features and genetic variations of severe neonatal hyperbilirubinemia: Five case reports

Table 2 Causative mutations and potentially pathogenic variants identified in five neonates

Case numbers	Gene name	rs number	cDNA/protein change	Mutationtaster prediction	PolyPhen2	SIFT	Genotype	Associated disorder
Patient 1	EPB41	rs201231112	c.G520A/p.E174K	Disease-causing	Probably damaging	Tolerated	Hetero	Elliptocytosis
	EPB41	rs188648724	c.1213-4T>G	Disease-causing			Hetero	Elliptocytosis
	G6PD	rs72554664	c.G1388A/p.R463H	Disease-causing	Damaging	Deleterious	Hemiz	G6PD deficiency
Patient 2	G6PD	rs72554664	c.G1388A/p.R463H	Disease-causing	Damaging	Deleterious	Hemiz	G6PD deficiency
	HBA2	rs41479347	c.C369G/p.H123Q	Disease-causing	Probably damaging	Deleterious	Hetero	Thalassemia
Patient 3	EPB41	rs778090351	c.A1474G/p.T492A	Disease-causing	Damaging	Deleterious	Hetero	Elliptocytosis
Patient 4	SPTB	rs144668591	c.A1729G/p.I577V	Disease-causing	Probably damaging	Deleterious	Hetero	Elliptocytosis
	ABCC2	rs554976086	c.C3825G/p.Tyr1275X	Disease-causing	Probably damaging	Deleterious	Hetero	Dubin-Johnson syndrome
Patient 5	UGT1A1	rs4148323	c.G211A/p.G71R	Polymorphism	Probably damaging	Deleterious	Hetero	Gilbert's syndrome

Hetero: Heterozygous; Hemiz: Hemizygote; EPB41: Protein 4.1; G6PD: Glucose-6-phosphate dehydrogenase; HBA2: Hemoglobin alpha 2; SPTB: Spectrin beta; ABCC2: Adenosine triphosphate-binding cassette subfamily C member 2; UGT1A1: Uridine diphosphate glucuronosyltransferase 1A1.