Table 4 The list and frequencies of mutations. The number refers to the count of genetic mutations

Pathogenic

0 (0.0%)

29 (41.4%)

Likely pathogenic

2 (10.5%)

3 (4.3%)

Likely benign

0 (0.0%)

12 (17.1%)

Benign

0 (0.0%)

0 (0.0%)

Uncertain significance

17 (89.5%)

26 (37.1%)

RYR2

4

CPVT

CASQ2

6

CPVT, NCCM, HCM

SCN5A

2

BrS, LQTS 3

LDB3

4

ARVC, HCM, DCM

SCN4B

2

LQTS10

APOA5

3

FAF

DSP

2

ARVC, DCM

SCN5A

3

BrS, LQTS

GPD1L

2

BrS 2

TRDN

3

CPVT, LQTS

AKAP9

1

LQTS 11

CACNA1C

2

BrS, LQTS

DSC2

1

ARVC 11

CACNB2

2

BrS

KCND3

1

BrS 9

DSC2

2

ARVC, FAF, DCM

KCNE3

1

BrS 6

DSP

2

ARVC, DCM

PKP2

1

ARVC 9

RYR1

2

ARVC

SNTA1

1

LQTS 12

ANK2

1

LQTS

JUP

1

ARVC, DCM

TMEM43

1

ARVC

TRPM4

1

BrS

Basic NGS ability

Reference

18/18 (100%)

15/33 (45.4%)

Extended NGS ability

Reference

18/18 (100%)

28/33 (84.8%)

LMNA

1

DCM 1A

APOB

7

FHC

LAMA2

4

DCM

RBM20

4

DCM

GCKR

3

FHC

MYH6

3

FAF, HCM, DCM

SDHA

3

DCM

LAMA4

2

DCM

MYBPC3

2

NCCM, HCM, DCM

ALMS1

1

DCM

BAG3

1

DCM

CETP

1

FHC

FBN1

1

AVD, FAA, Marfan Syndrome

MAP2K2

1

Noonan Syndrome, HCM

MYH7

1

RCM, NCCM, HCM, DCM

NEXN

1

HCM, DCM

PRDM16

1

NCCM, DCM

TMPO

1

DCM

Basic NGS ability

0/1 (0.0%)

0/37 (0.0%)

Extended NGS ability

1/1 (100%)

11/37 (29.7%)