Table 2.

Mutations in ALMS1 gene in study participants

Mutation 1	Exome 1	Allele 1 nucleotide change	Allele_1 amino acid change	Homo/ Hetero/CH	Mutation 2	Exome 2	Allele 2 nucleotide change	Allele_2 amino acid change
Nonsense	8	c.2041C > T	p.Arg681*X	Homo	?Nonsense	8	c.2041C > T	p.Arg681*
Nonsense	8	c.6823C > T	p.Arg2275*	CH	Nonsense	10	c.9535C > T	p.Arg3179*
Nonsense	8	c.2822 T > A	p.Leu941*	CH	Frameshift	16	c.10775delC	p.Thr3592Lysfs*6
Frameshift	8	c.6584delA	p.Lys2195Serf*10	CH	Nonsense	5	c.1008_1009delTG	p.Cys336fs*1
Nonsense	10	c.8002C > T	p.Arg2668*	CH	Nonsense	16	c.10879C > T	pArg3627*
Nonsense	10	c.9001C > T	p.Gln3001*	Hetero
Frameshift	8	c.6895delG	p.val2299Trps*43	CH	Frameshift	16	c.11443C > T	p.Gln3815*
Nonsense	16	11107C > T	p.Arg3703*	Hetero
Nonsense	16	11107C > T	p.Arg3703*	Homo	Nonsense	16	11107C > T	p.Arg3703*
Frameshift	16	c.10579_1580delAT	p.Met3527Valfs*13	CH	Frameshift	18	c.11856delC	p.Asn3952Lysfs*41
Frameshift	16	c.10769delC	p.Thr3590Lysfs*6	CH	Missense	8	c.5356A > G	p.Asn1786Asp
Nonsense	16	c.11107C > T	p.Arg3703*	Hetero
Nonsense	8	c.6823C > T	p.Arg2275*	CH	Nonsense	10	c.9535C > T	p.Arg3179*
Frameshift	8	c.1729delA	p.Arg577Glyfs*17	CH	Nonsense	16	c.10477C > T	p.Gln3493*
	8	c6526C > T	p.Gln217*	Hetero
Nonsense	10	c.8932C > T	p.Gln2978*	CH	Missense	8	c.5356A > G	p.Asn1786Asp
Nonsense	8	c.4937C > A	p.Ser1646*	Homo	Nonsense	8	c.4937C > A	p.Ser1646*
Nonsense	8	c.4937C > A	p.Ser1646*	Homo	Nonsense	8	c.4937C > A	p.Ser1646*
	9	c.7544-		Homo	Exon	9	c.7544-
Deletion		200_7677 + 1110del			deletion		200_7677 + 1110del
Nonsense	8	c.4937C > A	p.Ser2646*	Hetero	Nonsense	8	c.6526C > T	p.Gln2176*
Nonsense	8	c.6299C > A	p.Ser2100*	CH	Nonsense	16	c.10477C > T	p.GIn3493*
Nonsense	8	c.6299C > A	p.Ser2100*	CH	Nonsense	16	c.10477C > T	p.GIn3493*
Frameshift	16	c.10769delC	p.Thr3590Lysfs*6	CH	Missense	16	c.11410C > T	p.Arg38404*
Exon	9	c.7544-		Homo	Exon	9	c.7544-
deletion		200_7677 + 1110del			deletion		200_7677 + 1110del
Nonsense	8	c.2041C > T	p.Arg681*	Homo	Nonsense	8	c.2041C > T	p.Arg681*
Nonsense	8	c.2041C > T	p.Arg681*	Homo	?Nonsense	8	c.2041C > T	p.Arg681*
Exon deletion	9	c.7544-		Homo	Exon deletion	9	c.7544- 200_7677 + 1110del
Nonsense	16	200_7677 + 1110del	p.Gln3495*	CH	Frameshift	16	c.10775delC	p.Thr3592Lysfs*6
Nonsense	16	11107C > T	p.Arg3703*	Hetero
Frameshift	10	c.7911dupC	p.Asn2638Glnfs*24	Homo	Frameshift	10	c.7911dupC	p.Asn2638Glnfs*24

CH indicates compound heterozygote, Hetero, Heterozygote; Homo, homozygote