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Table 1 Summary of the coding polymorphic variants found in CFTD-LVNC genes

From: Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Gene

Amino acid change

rs

MAF

SEPN1

C142Y

rs7349185

16%

SEPN1

P391P

rs760597

20%

SEPN1

N502K

rs2294228

28%

RYR1

L198L

rs2229139

39%

RYR1

P762P

rs3745847

38%

RYR1

T981T

rs2228069

40%

RYR1

N993N

rs2228070

24%

MYH7

I989I

rs7157716

35%

MYH7

K365K

rs735711

9%

MYH7

F244F

rs2069542

22%

LMNA

H454H

rs4641

20%

TNNT2

I101I

rs3729547

32%

TNNI3

E179E

rs3729841

4%

  1. MAF minor allele frequency.