Table 2. HGMD variants with low coverage.
ACMG geneaHGMD variantsUnique variant position with low coverageb
SureSelectTargetSeqTruSeq
ACTC138151812
ACTA224649
APC1528391397577
APOB132174256
BRCA11219262321414
BRCA21159174582565
CACNA1S14066
COL3A122412213856
DSC233132117
DSG25092714
DSP89185223
FBN11403336547621
GLA670401397670
KCNH2683237448167
KCNQ14445232785
LDLR14453171159324
LMNA32311225254
MEN1567174443110
MLH1676281422238
MSH2623255273450
MSH6236371010
MUTYH9027775
MYBPC34578736655
MYH1112351
MYH745614922162
MYL2171108
MYL3166125
MYLK2001
NF231313322996
PCSK93418222
PKP2127426961
PMS270383216
PRKAG215146
PTEN40516512829
RB1595211446386
RET27612121948
RYR1410102262107
RYR2170344687
SCN5A624130348174
SDHAF23123
SDHB169699678
SDHC33181728
SDHD12289929
SMAD3165146
STK112357519726
TGFBR14212927
TGFBR296596329
TMEM433021
TNNI35922365
TNNT2759397
TP532857317819
TPM13351715
TSC1256869678
TSC2723188565106
VHL39244299184
WT1125478161
  • a For both the gene symbols and names of the genes used in this table, see the human genes footnote in this article.

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