. 2016 Sep 17;4(6):617–623. doi: 10.1002/mgg3.245

Table 2.

DCM‐associated variants identified in the Exome Aggregation Consortium with an allele count above 25

Gene	Variant	Amino acid	Variant type	Total AC/AN	Total allele frequency	LR prediction	Homoz.
ACTN2	c.26A>G	Q9R	Missense	83/117828	0.0007044	Neutral	0
ANKRD1	c.319G>T	V107L	Missense	87/120792	0.0007202	Tolerated	0
ANKRD1	c.313C>T	P105S	Missense	28/120528	0.0002323	Tolerated	0
BAG3	c.280A>T	I94F	Missense	92/121376	0.000758	Damaging	0
BAG3	c.1138C>T	P380S	Missense	180/121378	0.001483	Neutral	2
CRYAB	c.460G>A	G154S	Missense	93/121406	0.000766	Tolerated	0
CSRP3	c.10T>C	W4R	Missense	287/121088	0.0023702	Tolerated	0
DES	c.1375G>A	V459I	Missense	368/121350	0.0030326	Neutral	8
DMD	c.9682T>C	F3228L	Missense	59/83652	0.0007053	Tolerated	0
DMD	c.5016T>A	N1672K	Missense	660/87371	0.007554	Tolerated	16
DSP	c.6881C>G	A2294G	Missense	103/121412	0.0008484	Damaging	0
FLT1	c.162G>C	R54S	Missense	295/121258	0.0024328	Tolerated	3
ISL1	c.755A>G	N252S	Missense	60/118562	0.0005061	Damaging	0
LAMA2	c.2462C>T	T821M	Missense	246/120992	0.0020332	Neutral	2
LDB3	c.566C>T	S189L	Missense	68/119136	0.0005708	Unknown	0
	c.349G>A	D117N	Missense	549/120546	0.0045543	Neutral	1
	c.1051A>G	T351A	Missense	58/113628	0.0005104	Neutral	0
	c.1535A>C	Q512P	Missense	76/120808	0.0006291	Neutral	0
	c.1672A>G	I558V	Missense	46/76462	0.0006016	Neutral	0
LMNA	c.1930C>T	R644C	Missense	145/116680	0.0012427	Unknown	1
MYBPC3	c.3682C>T	R1228C	Missense	26/120584	0.0002156	Tolerated	0
MYBPC3	c.961G>A	V321M	Missense	37/80000	0.0004625	Tolerated	0
MYH6	c.3010G>T	A1004S	Missense	119/121412	0.0009801	Tolerated	0
MYPN	c.59A>G	Y20C	Missense	111/121136	0.0009163	Damaging	0
	c.3335C>T	P1112L	Missense	368/121276	0.0030344	Damaging	3
	c.3583G>A	V1195M	Missense	31/120970	0.0002563	Damaging	0
NCOA6	c.3526A>G	T1176A	Missense	34/121394	0.0002801	Tolerated	0
NEBL	c.1775C>A	A592V	Missense	30/116884	0.0002567	Tolerated	0
	c.604G>A	G202R	Missense	258/121218	0.0021284	Tolerated	0
	c.180G>C	K60N	Missense	467/121112	0.0038559	Tolerated	0
PRDM16	c.3301G>A	V1100M	Missense	428/120002	0.0035666	Neutral	7
RBM20	c.2662G>A	D888N	Missense	59/20800	0.0028365	Neutral	1
SCN5A	c.5507T>C	I1835T	Missense	28/120774	0.0002318	Damaging	0
SCN5A	c.1336G>A	E446K	Missense	82/113512	0.0007224	Damaging	0
TMPO	c.2068C>T	R690C	Missense	1794/119000	0.0150756	Neutral	141

AN, allele number, shows how many individuals were exome sequenced at the given locus; AC, allele count, a count of how many alleles of a given variant was found; LR, logistic regression; Homoz., homozygous.