Table 1 List of potentially disease-causative, heterozygous variants based on whole-exome sequencing indicating gene (Gene), reference sequence (RefSeq), mutation within the gene sequence (MutCDNA), position of the mutation within the genome according to hg38 (Position), mutation within the protein sequence (MutProt), type of mutation (Type), chromosome location (Chr), allele frequency (AL), number of affected exon (MutPos) and consequence of mutation (Consequence)

HIST1H2AG

NM_021064.4

c.1A > G

27100851

p.M1V

SNP

6

het

CDS.1

Start codon lost

KAT5

NM_001206833.1

c.164A > G

65479902

p.N55S

SNP

11

het

CDS.1

Non-synonymous coding

LGR5

NM_003667.2

c.2611_2613del(T)3ins(T)2

71978401

p.F871Lfs*22

INDEL

12

het

CDS.18

Frameshift

LIMCH1

NM_001112719.1

c.20_21insG

41615112

p.K8Qfs*4

INS

4

het

CDS.1

Frameshift

LPPR3

NM_024888.1

c.1579G > A

813232

p.E527K

SNP

19

het

CDS.7

Frameshift

MFF

NM_020194.4

c.696delG

228212044

p.Q232Hfs*46

DEL

2

het

CDS.8

Frameshift

MLNR

NM_001507.1

c.762_764delCTA

49795235

p.Y255del

DEL

13

het

CDS.1

Deletion

MYH7B

NM_020884.3

c.3425_3428delGGGTins (GGGT)2

33584918

p.E1144Gfs*130

INDEL

20

het

CDS.29

Frameshift

NMNAT2

NM_170706.3

c.482 T > C

183253877

p.V161A

SNP

1

het

CDS.6

Non-synonymous coding

PRDM16

NM_199454.2

c.1093G > C

3322119

p.A365P

SNP

1

het

CDS.8

Non-synonymous coding

STOX1

NM_152709.4

c.2341G > T

70645893

p.E781*

SNP

10

het

CDS.3

Stop codon gained

TRIM41

NM_201627.2

c.424_447delGAGGAGGACCTGAGGGGGGAGGAT

180651423

p.E142_D149del

DEL

5

het

CDS.1

Deletion