TABLE 2.

Variants detected in hereditary spherocytosispatients using next-generation sequencing (NM_000037.3 for ANK1, and NM_001024858.2 for SPTB).

Patient ID	Gene	Coding	Protein	Exon	Classification	Inheritance	Classification	Known/Novel
1	ANK1	c.856C > T	p.Arg286Ter	9	non-sense	Mother	Pathogenic	Known (Aggarwal et al., 2019)
2	SPTB	c.5799-2A > G	–	Intron 26	splice site	De novo	Pathogenic	Novel
3	SPTB	c.4211C > G	p.Ser1404Ter	19	non-sense	De novo	Pathogenic	Novel
4	ANK1	c.1800 + 1G > A	−	intron 16	splice site	Mother	Pathogenic	Novel
5	ANK1	c.2559-2A > C	−	Intron 23	splice site	Mother	Pathogenic	Novel
6	ANK1	c.701delT	p.Phe234SerfsTer19	7	indel	De novo	Pathogenic	Novel
7	SPTB	c.1310G > A	p.Trp437Ter	10	non-sense		Pathogenic	Novel
8	ANK1	c.2T > A	p.Met1Lys	1	start-loss		Uncertain significance	Novel
9	ANK1	c.1032_1034delGGC	p.Ala346del	10	indel	De novo	Pathogenic	Novel
10	ANK1	c.735delC	p.Ile245MetfsTer8	8	indel		Pathogenic	Novel
11	ANK1	c.4414C > T	p.Gln1472Ter	37	non-sense		Pathogenic	Novel
12	ANK1	c.2T > A	p.Met1Lys	1	start-loss		Uncertain significance	Novel
13	ANK1	c.3865delG	p.Glu1289LysfsTer16	32	indel		Pathogenic	Novel
14	SPTB	c.607A > T	p.Lys203Ter	5	non-sense	Father	Pathogenic	Novel
15	SPTB	c.4873C > T	p.Arg1625Ter	23	non-sense		Pathogenic	Known (Shen et al., 2019)
16	SPTB	c.2863C > T	p.Arg955Ter	15	non-sense		Pathogenic	Known (Aggarwal et al., 2019)
17	ANK1	c.341C > T	p.Pro114Leu	5	missense	De novo	Likely pathogenic	Known (van Vuren et al., 2019)
18	SPTB	c.563_566delCAGG	p.Gly189ThrfsTer22	4	indel	Father	Pathogenic	Novel
19	SPTB	c.3190C > T	p.Gln1064Ter	15	non-sense	Mother	Pathogenic	Novel
20	SPTB	c.5443G > T	p.Glu1815Ter	25	non-sense		Pathogenic	Novel
21	ANK1	c.2531_2532insT	p.Asp845GlyfsTer24	23	indel		Pathogenic	Novel
22	SPTB	c.2805-1G > T	−	Intron 14	splice site	De novo	Pathogenic	Novel
23	ANK1	c.4253G > A	p.Trp1418Ter	35	non-sense	Mother	Pathogenic	Novel