Table 3. Index cases with two or three candidate mutations/variants.

Index case	Candidate mutation 1		Candidate mutation 2
	Base change	Amino acid change	Base change	Amino acid change
59	c.8247C > A	p.Y2749*	c.4751A   >   G	p.Y1584C
46	c.7603C   >   T	p.R2535*	c.8079C > T	SYN
87	c.6980G > A	p.C2327Y	c.7679G > T	p.G2560V
57 a	c.6940C > T	p.Q2314*	c.580A > G	p.S194G
33	c.6893C > T	p.T2298M	c.6099C   >   T	SYN
16	c.5851A > G	p.T1951A	c.546G > A	SYN
64	c.5636G > T	p.C1879F	c.8079C > T	SYN
56	c.5509C > T	p.R1837W	c.390C > T	SYN
36 b	c.4975C   >   T	p.R1659*	c.2561G   >   A	p.R854Q
93	c.4751A   >   G	p.Y1584C	c.7244C > T	p.T2415I
38	c.4751A   >   G	p.Y1584C	c.390C > T	SYN
73	c.3686T   >   G	p.V1229G	c.3692A   >   C	p.N1231T
5	c.3686T   >   G	p.V1229G	c.3692A   >   C	p.N1231T

^aAlso carries the variant c.390C > T (SYN).

^bAlso carries the variant c.4146G > T (SYN).