. 2012 Oct 5;91(4):608–620. doi: 10.1016/j.ajhg.2012.08.007

Table 1.

Thirteen AR Diseases and the Corresponding 14 Mutations in the Hutterites

Disease	MIM Number	Chromosome	Gene	Mutation (Common Name)	Mutation (HGVS Name)	Reference Cluster ID	Group	Mutation Detected in 25 Exomes
Restrictive dermopathy	275210	1	ZMPSTE24	c.1085dupT	NM_005857.3: c.1078dupT	rs137854889	3	no
Restrictive dermopathy	275210	1	ZMPSTE24	c.1085dupT	NP_005848.2: p.Cys359_Phe360?fs	rs137854889	3	no
Joubert syndrome	614424	2	TMEM237	R18X	NM_001044385.1: c.52C>T	rs199469707	2	yes
Joubert syndrome	614424	2	TMEM237	R18X	NP_001037850.1: p.Arg18Ter	rs199469707	2	yes
Sitosterolemia	210250	2	ABCG8	S107X	NM_022437.2: c.320C>G	rs137854891	2	yes
Sitosterolemia	210250	2	ABCG8	S107X	NP_071882.1: p.Ser107Ter	rs137854891	2	yes
Dilated cardiomyopathy with ataxia syndrome	610198	3	DNAJC19	IVS3-1G>C	NM_145261.3: c.130-1G>C	rs137854888	2	yes
Spinal muscular atrophy type III	253400	5	SMN1	exon 7 del	N/A	N/A	1	no
Cystic fibrosis	219700	7	CFTR	F508del	NM_000492.3: c.1521_1523delCTT	rs113993960	1	no
				F508del	NP_000483.3: p.Ile507_Phe508?	rs113993960	1	no
				M1101K	NM_000492.3: c.3302T>A	rs36210737	1	yes
				M1101K	NP_000483.3: p.Met1101Lys	rs36210737	1	yes
Limb girdle muscular dystrophy 2H	254110	9	TRIM32	D487N	NM_001099679.1: c.1459G>A	rs111033570	2	yes
Limb girdle muscular dystrophy 2H	254110	9	TRIM32	D487N	NP_001093149.1: p.Asp487Asn	rs111033570	2	yes
Usher syndrome type 1F	602083	10	PCDH15	c.1471delT	NM_001142763.1: c.1101delT	rs199469706	2	yes
Usher syndrome type 1F	602083	10	PCDH15	c.1471delT	NP_001136235.1: p.Leu368fs^∗	rs199469706	2	yes
Oculocutaneous albinism type 1A	203100	11	TYR	C91Y	NM_000372.4: c.272G>A	rs137854890	3	yes
Oculocutaneous albinism type 1A	203100	11	TYR	C91Y	NP_000363.1: p.Cys91Tyr	rs137854890	3	yes
Nonsyndromic deafness	220290	13	GJB2	c.35delG	NM_004004.5: c.35delG	rs80338939	3	no
Nonsyndromic deafness	220290	13	GJB2	c.35delG	NP_003995.2: p.Gly12Valfs	rs80338939	3	no
Bardet-Biedl syndrome	209900	16	BBS2	IVS3-2A>G	NM_031885.3: c.472-2A>G	rs137854887	2	yes
Limb girdle muscular dystrophy 2I	607155	19	FKRP	L276I	NM_024301.4: c.826C>A	rs28937900	1	yes
Limb girdle muscular dystrophy 2I	607155	19	FKRP	L276I	NP_077277.1: p.Leu276Ile	rs28937900	1	yes
Nonsyndromic mental retardation	614020	19	TECR	P182L	NM_138501.5: c.545C>T	rs199469705	1	yes
Nonsyndromic mental retardation	614020	19	TECR	P182L	NP_612510.1: p.Pro182Leu	rs199469705	1	yes

This table is ordered by chromosome. Group 1 mutations correspond to diseases that were either previously observed or reported^22–24 to have occurred in study subjects or their children. Group 2 mutations were previously reported in the Hutterites^25–32 and were present in the exome sequences of 25 Hutterites. Group 3 mutations were discovered in our laboratory during the course of this study. Both the “common” mutation names, as well as HGVS names, are provided; in some cases, the coding sequence has been revised since the original mutation publication because the common name is outdated. We use the common names throughout this manuscript to retain consistency with existing literature on these mutations.