Table 2.

Pathogenic mutations in the HS cohort

Patient ID	Inheritance pattern	Gene	Location	cDNA change	Protein change	Pathogenicity	Zygosity	RBC lifespan(days)
1	unknown	ANK1	Exon2	c.106dupG	p.Q36Yfs*5	5-P	heterozygous	11
2	De novo	ANK1	Exon31-Exon38 Del	Exon31-Exon38 Del	NA	4-LP	heterozygous	14
3	De novo	ANK1	exon29	c.3376_3377del	p.A1126Hfs*95	4-LP	heterozygous	18
4	De novo	ANK1	intron16	c.1801-17G > A	splicing	5-P	heterozygous	11
5	De novo	ANK1	exon2	c.28-1G > T	splicing	5-P	heterozygous	23
6	unknown	ANK1	exon29	c.3239-1G > C	splicing	5-P	heterozygous	14
7	unknown	ANK1	exon29	c.3301 C > A	p.P1101T	3-VUS	heterozygous	8
8	unknown	ANK1	exon6	c.427-2 A > G	splicing	4-LP	heterozygous	12
9	De novo	SPTB	exon14	c.2291_2295delGGCTGinsAGCCGGTGG	p.R764Qfs	5-P	heterozygous	10
10	AD	SPTB	exon28	c.6001 C > T	p.R2001C	3-VUS	heterozygous	48
11	De novo	SPTB	exon7	c.850delG	p.A284Qfs*20	5-P	heterozygous	15
12	unknown	SPTB	exon11	c.1628G > A	p.W543X	4-LP	heterozygous	8
13	De novo	SPTB	exon13	c.1816dupC	p.Q606Pfs*15	5-P	heterozygous	20
14	unknown	SPTB	exon10	c.1080dupG	p.N361Efs*30	4-LP	heterozygous	13
15	De novo	SPTB	exon19	c.4266 + 1_4266 + 2del GCinsAT	splicing	5-P	heterozygous	40
16	De novo	SPTB	exon13	c.1738 C > T	p.Q580X	5-P	heterozygous	11
17	unknown	SPTB	exon8	c.826_833del	p.Tyr276GlnfsTer17	4-LP	heterozygous	13
18	unknown	SLC4A1	exon17	c.2281 A > T	p.I761F	3-VUS	heterozygous	12
19	AD	SLC4A1	exon18	c.2423G > A	p.R808H	4-LP	heterozygous	13
20	unknown	SLC4A1	exon17	c.2278 C > T	p.R760W	5-P	heterozygous	20
21	unknown	SLC4A1	exon9	c.808G > T	p.G270X	4-LP	heterozygous	14
22	AD	SLC4A1	exon19	c.2510 C > T	p.T837M	4-LP	heterozygous	39
23	AR	SPTA1	exon3	c.382delG	p.E128Kfs*6	4-LP	compound heterozygous	14
	AR	SPTA1	exon51	c.7022 C > T	p.A2341V	3-VUS

Mutation nomenclature is based on the following NCBI Reference sequence transcript numbers: ANK1: NM_001142446.2; SPTB: NM_001024858.3; SLC4A1: NM_000342.3; SPTA1: NM_003126.4; and EPB42: NM_000119.3. Sequence variants were interpreted following recommendations from the American College of Medical Genetics and Genomics [8], and identified variants were described using standard terminology:1-B: benign, 2-LB: likely benign, 3-VUS: variant of unknown significance, 4-LP: likely pathogenic, and 5-P: pathogenic