Table 1.

SMCHD1 mutations observed in the arhinia cohort

Chr.	Nucleotide mutation	Exon	Inheritance (sample ID)	Number of subjects	Sample IDa	Amino acid alteration	Sex (sample ID)
18	g.2666926T>C	3	N/A	1	K1	p.Leu107Pro	F
18	g.2666992T>A	3	N/A	1	D1	p.Met129Lys	M
18	g.2667009A>T	3	De novo (AF1) N/A (M1)	2	M1, AF1	p.Ser135Cys	F (M1, AF1)
18	g.2667010G>A	3	De novo (I1) N/Ab (R1)	2	I1, R1	p.Ser135Asn	F (R1), M (I1)
18	g.2667010G>T	3	De novo	1	AK1	p.Ser135Ile	M
18	g.2667014A>C	3	Fatherb	1	T1	p.Glu136Asp	M
18	g.2667016G>A	3	N/A	1	AG1	p.Gly137Glu	F
18	g.2667021A>C	3	De novo (A1) N/A (Y1)	2	A1, Y1	p.Asn139His	F (A1, Y1)
18	g.2667029G>C	3	N/A	3	C1, E1, S1	p.Leu141Phe	F (S1), M (C1, E1)
18	g.2667029G>T	3	De novo	1	V1	p.Leu141Phe	M
18	g.2674017T>G	5	N/Ab	1	AB1	p.Phe171Val	M
18	g.2688478C>G	6	De novo	1	AA1	p.Ala242Gly	M
18	g.2694685A>G	8	Motherb	2	O1, O4c	p.Gln345Arg	F (O1, O4)
18	g.2697032A>G	9	De novo (X1, AC1, AE1) N/A (F1, L1, N1, Z1)	7	F1, L1, N1, Z1, X1, AC1, AE1	p.His348Arg	F (L1, X1), M(F1, N1, Z1, AC1, AE1)
18	g.2697896A>T	10	Fatherb	1	AH1	p.Gln400Leu	F
18	g.2697956A>T	10	De novo	1	P1	p.Asp420Val	M
18	g.2700611G>C	11	N/A	1	W1	p.Glu473Gln	M
18	g.2700837C>A	12	N/A	2	J1, U1	p.Thr523Lys	F (U1), M (J1)
18	g.2700840A>G	12	N/A	1	B1	p.Asn524Ser	M
18	g.2703697G>A	13	N/A	1	AJ1	p.Arg552Gln	M

^aSamples L1, M1, N1, P1, AF1 and AJ1 overlap with those studied in Gordon et al.⁶.

^bMultiplex family.

^cSibling. Subjects G1, H1, H2, Q1, AD1, AI and AL1 did not show a rare missense mutation in SMCHD1. N/A, parental samples not available; M, male; F, female.