. 2017 Dec 10;6(1):114–120. doi: 10.1002/mgg3.347

Table 2.

List of genetic variants identified, indexes of pathogenicity, and minor allele frequencies in publically available datasets

# of subject sequenced	Variation	Position		Function	Alleles		Genotypes	mRNA	Protein	Pathogenicity		MAF
# of subject sequenced	Variation	Exon/intron	B38	Function	Ref	Alt	Genotypes	mRNA	Protein	PolyPhen2	CADD	1,000 All	ExAC adjusted
12	g.6655974_6655975ins (New)	Intergenic	6,655,974	Intergenic	—	G	2 –/G				8.9
12	rs867488547	E 1	6,655,846	5′ UTR	C	G	2 C/G				7.0	0
12	rs867009988	E 1	6,655,844	5′ UTR	G	A	6 G/A				9.4	0
12	g.6655824_6655825ins	E 1	6,655,824	5′ UTR	—	AGGGG	6 –/AGGGG				9.3
12	g.6655824_6655825ins	E 1	6,655,824	5′ UTR	—	33 bp	3 HTZ and 1 HOM				2.7
12	rs866187118	E 1	6,655,765	5′ UTR	G	T	1 G/T				11.7	0
12	rs544472399	E 1	6,655,666	5′ UTR	A	G	3 A/G				7.8	0.06
12	rs12288387	E 1	6,655,653	5′ UTR	T	C	6 T/C and 5 C/C				9.4	0
12	rs117253802	I 1	6,655,505		C	T	4 C/T				7.5	0.24
12	rs114655313	I 1	6,655,412		G	A	1 G/A				18.1	0.06
12	rs16916484	I 1	6,641,975		C	T	3 C/T				3.0	0.14
12	rs16916480	I 1	6,641,874		G	A	3 G/A				0.7	0.15
100	rs376287018	E 2	6,641,514	Insertion	—	CTG	19 –/CTG and 2 CTG/CTG	c.99_100insCTG	p.L33dup		11.8	0	0.11
100	rs117368891	E 2	6,640,369	Missense	C	A	3 C/A	c.1245C>A	p.S415R	0.998—P.D.	13.4	3.00E‐03	0.01
12	rs997263	E 3	6,634,202	Synonymous	C	T	5 C/T and 2 T/T	c.1902C>T	p.H634H		5.8	0.35	0.38
12	rs2659869	I 3	6,634,101		A	T	5 A/T and 2 T/T				0.3	0.39	0.39
12	rs11040938	I 5	6,633,382		T	C	5 T/C and 2 C/C				12.3	0.53	0.50
12	rs138559226	E 7	6,631,745	Synonymous	G	A	1 G/A	c.3546G>A	p.Q1182Q		5.5	0.01	0.01
12	rs2659871	E 8	6,631,387	Synonymous	G	A	5 G/A and 2 A/A	c.3696G>A	p.P1232P		13.5	0.45	0.42
12	rs2659872	E 10	6,630,579	Synonymous	T	C	5 T/C and 2 C/C	c.4215T>C	p.L1405L		7.5	0.53	0.52
12	rs11040937	I 13	6,627,706		G	A	5 G/A and 2 A/A				10.3	0.32	0.37
12	rs4758443	E 14	6,627,193	Missense	C	T	5 C/T and 2 T/T	c.5846C>T	p.T1949M	0.023—benign	0.0	0.30	0.36
12	rs4442534	I 14	6,626,747		G	A	5 G/A and 2 A/A				0.1	0.32	0.36
12	rs34782445	I 14	6,626,700		G	A	5 G/A and 2 A/A				0.0	0.32	0.36
12	rs11827437	I 15	6,626,391		A	G	5 A/G and 2 G/G				0.1	0.34	0.37
12	rs200103093	I 17	6,625,768		—	C	1 –/C				11.8	0.01	0.01
100	rs7924553	E 19	6,625,353	Missense	G	A	3 G/A	c.6991G>A	p.V2331I	0—benign	8.8	0.05	0.02
12	rs10458926	I 19	6,624,877		A	G	3 A/G				0.4	0.20	0.19
100	rs117140835	E 21	6,624,291	Missense	G	A	5 G/A	c.7385G>A	p.R2462Q	1—P.D.	25.6	0.01	0.02
100	c.7390G>C (New)	E 21	6,624,286	Missense	G	C	1 G/C	c.7390G>C	p.A2464P	0.998—P.D.	26.4	0	0
100	rs149685502	E 21	6,624,266	Synonymous	G	T	2 G/T	c.7410G>T	p.V2470V		1.7	0	1.63E‐04
100	rs72911011	E 21	6,623,369	Synonymous	G	A	26 G/A and 7 A/A	c.8307G>A	p.A2769A		13.0	0.13	0.24
100	c.8309G>A	E21	6,623,367	Missense	G	A	1 G/A	c.8309G>A	p.R2770Q	0.999—P.D.	25.1	0	0
100	rs35599968	E 21	6,623,196	Missense	G	C	14 G/C	c.8480G>C	p.R2827P	0.123—benign	19.8	0.03	0.07
100	rs146233988	E 21	6,623,077	Missense	G	A	1 G/A	c.8599G>A	p.A2867T	0.001—benign	15.4	4.00E‐04	0.01
100	rs7122587	E 21	6,622,745	Synonymous	G	A	26 G/A and 7 A/A	c.8931G>A	p.Q2977Q		4.1	0.20	0.27
100	rs768737101a	E 19	6,625,356	Missense	C	T	0	c.6988C>T	p.R2330C	1—P.D.	28.0	0	2.49E‐05
100	rs201457110a	E 21	6,624,138	Missense	G	A	0	c.7538G>A	p.R2513H	1—P.D.	24.3	4.00E‐04	5.05E‐04

I, intron; E, exon; P.D., probably damaging. Sequence of reference: NG_033858.1.

The six mutations considered deleterious in this study are in bold.

Mutations identified by Durst et al. (2015).