Table 2.

HGMD variants with low coverage.

ACMG genea	HGMD variants	Unique variant position with low coverageb
		SureSelect	TargetSeq	TruSeq
ACTC1	38	15	18	12
ACTA2	24	6	4	9
APC	1528	391	397	577
APOB	132	17	42	56
BRCA1	1219	262	321	414
BRCA2	1159	174	582	565
CACNA1S	14	0	6	6
COL3A1	224	122	138	56
DSC2	33	13	21	17
DSG2	50	9	27	14
DSP	89	18	52	23
FBN1	1403	336	547	621
GLA	670	401	397	670
KCNH2	683	237	448	167
KCNQ1	444	52	327	85
LDLR	1445	317	1159	324
LMNA	323	112	252	54
MEN1	567	174	443	110
MLH1	676	281	422	238
MSH2	623	255	273	450
MSH6	236	37	101	0
MUTYH	90	2	77	75
MYBPC3	457	87	366	55
MYH11	12	3	5	1
MYH7	456	149	221	62
MYL2	17	1	10	8
MYL3	16	6	12	5
MYLK	2	0	0	1
NF2	313	133	229	96
PCSK9	34	18	22	2
PKP2	127	42	69	61
PMS2	70	38	32	16
PRKAG2	15	1	4	6
PTEN	405	165	128	29
RB1	595	211	446	386
RET	276	121	219	48
RYR1	410	102	262	107
RYR2	170	34	46	87
SCN5A	624	130	348	174
SDHAF2	3	1	2	3
SDHB	169	69	96	78
SDHC	33	18	17	28
SDHD	122	89	92	9
SMAD3	16	5	14	6
STK11	235	75	197	26
TGFBR1	42	12	9	27
TGFBR2	96	59	63	29
TMEM43	3	0	2	1
TNNI3	59	22	36	5
TNNT2	75	9	39	7
TP53	285	73	178	19
TPM1	33	5	17	15
TSC1	256	86	96	78
TSC2	723	188	565	106
VHL	392	44	299	184
WT1	125	47	81	61

^aFor both the gene symbols and names of the genes used in this table, see the human genes footnote in this article.

^bTotal number of HGMD variant locations with low depth of coverage (<20×) in every sample for each respective capture kit.