DNA Mutation	Predicted Protein Change	Number of Subjects (%)
Exon 3 deletion	p.?	59 (30.7)
c.423 + 1G > A	p.?	45 (23.4)
c.654G > A	p.(Trp218*)	19 (9.9)
c.653G > C	p.(Trp218Ser)	11 (5.7)
c.574T > C	p.(Cys192Arg)	8 (4.2)
c.200 + 1G > A	p.?	6 (3.1)
c.137G > A	p.(Arg46Gln)	4 (2.1)
c.328A > C	p.(Thr110Pro)	4 (2.1)
c.418G > T	p.(Val140Phe)	4 (2.1)
c.725G > A	p.(Arg242His)	3 (1.6)
c.649C > T	p.(Arg217Cys)	3 (1.6)
c.590C > G	p.(Pro197Arg)	3 (1.6)
c.686_725del	p.(Glu229fs)	3 (1.6)
c.343C > T	p.(Arg115*)	3 (1.6)
c.292T > C	p.(Cys98Arg)	2 (1.0)
Deletion promoter and exon 1	p.?	1 (0.5)
Deletion promoter till exon 8	p.0	2 (1.0)
Exon 2 deletion	p.?	2 (1.0)
Exon 1 deletion	p.?	2 (1.0)
c.713delT	p.(Phe238fs)	1 (0.5)
c.727T > A	p.(Cys243Ser)	1 (0.5)
c.761C > T	p.(Pro254Leu)	1 (0.5)
c.626C > T	p.(Pro209Leu)	1 (0.5)
c.380T > C	p.(Ile127Thr)	1 (0.5)
c.325A > C	p.(Asn109His)	1 (0.5)
c.1A > G	p.?	1 (0.5)
c.119A > C	p.(Lys40Thr)	1 (0.5)
c.274G > T	p.(Asp92Tyr)	175 (74.7)
c.416T > C	p.(Leu139Pro)	34 (14.6)
c.284T > C	p.(Leu95Pro)	6 (2.6)
Deletion promoter, exon 1 and 2	p.?	4 (1.7)
c.242C > T	p.(Pro81Leu)	3 (1.3)
c.337_340delGACT	p.(Asp113fs)	2 (0.9)
c.122dupC	p.(Glu42fs)	2 (0.9)
Exon 1. c.3G > C	p.(Met1Ile)	1 (0.4)
Exon 2: c.169_169 + 9del10, splice donor mutation	p.?	1 (0.4)
Intron 2 c.169_169 + 9del	p.?	1 (0.4)
Specific SDHD variant unknown (tested elsewhere)	unknown	3 (1.3)