Table 3 Variants (allele count ≤ 2) with allele frequency in cases inconsistent with that in gnomAD compared to recurring variants

ACADM

c.668T > C

p.(Ile223Thr)

PAT(1)/VUS(1)

2 (1.54)

0.0001087

0.00005437–0.0002719

c.617G > A

p.(Arg206His)

PAT(2)/LP(1)

1 (0.77)

0.0001631

ACADVL

c.878 + 1G > C

-

PAT(1)

2 (1.19)

0.0001088

0.00005437–0.0002506

c.1405 C > T

p.(Arg469Trp)

PAT(6)/LP(1)

2 (1.19)

0.0001087

c.863T > G

p.(Phe288Cys)

-

1 (0.6)

0.0001087

c.1226 C > T

p.(Thr409Met)

PAT(1)/VUS(2)

1 (0.6)

0.0003508

c.1434G > A

p.(Met478Ile)

PAT(1)/VUS(3)

1 (0.6)

0.002105

ACAT1

c.83_84del

p.(Tyr28CysfsTer38)

PAT(3)

1 (2.00)

0.0001034

0.00005437–0.0002114

c.163T > A

p.(Phe55Ile)

-

1 (2.00)

0.0001002

ASS1

c.470G > A

p.(Arg157His)

PAT(3)/VUS(1)

1 (2.08)

0.0001002

0

c.1004G > A

p.(Arg335His)

VUS(1)

1 (2.08)

0.0001002

BCKDHB

c.818 C > T

p.(Thr273Ile)

-

2 (2.13)

0.0002179

0-0.0000544

c.1159 C > T

p.(Arg387Ter)

PAT(3)/VUS(1)

1 (1.06)

0.0003806

BTD

c.1246G > A

p.(Glu416Lys)

LP(1)/VUS(3)

2 (4.35)

0.000451

0-0.0001087

CPS1

c.2407 C > G

p.(Arg803Gly)

PAT(1)

2 (4.35)

0.0004018

0.00005025

c.3538G  >A

p.(Ala1180Thr)

VUS(2)

1 (2.17)

0.0003262

c.3793 C > T

p.(Pro1265Ser)

-

1 (2.17)

0.000641

c.4088_4099del

p.(Leu1363_Ile1366del)

LP(1)

1 (2.17)

0.0001002

GCDH

c.1063 C > T

p.(Arg355Cys)

PAT(2)/LP(2)

2 (1.05)

0.0002007

0-0.001303

c.300G > A

p.(Met100Ile)

VUS(1)

1 (0.53)

0.0002175

c.873 C > A

p.(Asn291Lys)

VUS(3)

1 (0.53)

0.000641

c.938G > A

p.(Arg313Gln)

PAT(1)/LP(1)

1 (0.53)

0.0001004

c.1156 C > G

p.(Arg386Gly)

PAT(1)/LP(1)

1 (0.53)

0.0002175

HLCS

c.2010-1G > A

-

VUS(1)

1 (1.47)

0.0001093

0.0001002–0.0002718

IVD

c.457-2 A > G

-

LP(1)

2 (2.00)

0.0001087

0.00005437–0.0002175

c.233G > A

p.(Arg78Gln)

-

1 (1.00)

0.0003262

c.539 C > T

p.(Ala180Val)

VUS(1)

1 (1.00)

0.0001002

c.823G > C

p.(Val275Leu)

VUS(1)

1 (1.00)

0.000451

PCCA

c.688 C > T

p.(Arg230Cys)

LP(1)/VUS(1)

1 (1.47)

0.0001003

0-0.0001087

c.1353 + 5_1353 + 9del

-

PAT(2)

1 (1.47)

0.0001089