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. 2017 Jul 13;12(7):e0180056. doi: 10.1371/journal.pone.0180056

Table 4. Potential pathogenic variants in each patient.

Patient ID (SCD-ID)
Gene Effect 02 04 09 10 11 13 14 15 17 18 19 20 25 26 29 32 34 35 36 37 38 39 40 41 42
NEXN p.Glu36Lys 1
TNNT2 p.Ala192Val 1
RYR2 p.Ala1365Val 1
TTN p.Gly29662Ser 1
TTN p.Trp28102Cys 1
TTN p.Pro22584Leu 1
TTN p.Val13856Phe 1 1
TTN p.Val3250Gly 1 1
TTN p.Ala1914Val 1
SCN5A p.Arg179Gln 1
DSP p.Arg1255Thr 1
KCNH2 p.Arg1032Trp 1
KCNH2 p.Asp463Ala 2
KCNH2 p.Gly487Ser 1
CACNB2 frameshift 1
CACNB2 p.Arg492His 1
RBM20 p.Thr1171Met 1
BAG3 p.Arg106Gln 1
KCNQ1 p.Arg192Cys 1
KCNQ1 p.Gly516Ser 2 1
ILK p.Arg401* 1
MYBPC3 p.Cys475Ser 1
CACNA1C p. Ala519Thr 1
MYH7 p.Arg1079Trp 1
TPM1 splice variant 1
TPM1 p.Glu236_Thr237ins 1
SCN1B p.Val138Ile 1 1
MYLK2 p.Arg552* 1

The numbers showed in each column of patient ID represent the number of genetic variant at each locus: 1 = heterozygous, and 2 = homozygous