Table 2.

Genetic features of CARMIL2-deficient patients.

	Patient 1	Patient 2	Patient 3	Patient 4
Chromosome positiona	Chr16:67,646,513		Chr16:67,653,066	Chr16:67,649,569
cDNA change (GenBank: NM_001013838.3)	c.462delC		c.2932G > T	c.1869C > A
Amino acid changeb (GenPept: NP_001013860.1)	p.Cys155ValfsTer54		p.Glu978*	p.Asp623Glu
Exon number	6		29	21
Predicted domain	None		PRD	LRR
In silico evaluation
CADD	Unknown		41	26.4
SIFT Pred	Unknown		Unknown	Damaging
Polyphen2 Pred	Unknown		Unknown	Probably damaging
LRT	Unknown		Neutral	Deleterious
Mutation Assessor	Unknown		Unknown	Medium (2.645)
Mutation Taster	Disease causing		Disease causing	Disease causing
FATHMM	Unknown		Unknown	Tolerated
PROVEAN	Unknown		Unknown	Damaging
Population databases
Maximum AAFc	0		0	0.0007
ExAC allele frequency	None		None	0.0002
N of heterozygous in ExAC	None		None	26
N of homozygous in ExAC	None		None	None
gnomAD allele frequency	None		None	0.0002499
gnomAD allele count	None		None	38
N of homozygous in gnomAD	None		None	None
1000 Genomes	None		None	None
EVS	None		None	0.0003

AAF alternative allele frequency, AR autosomal recessive, CADD Combined Annotation Dependent Depletion, EVS Exome Variant Server, ExAC Exome Aggregation Consortium, FATHMM Functional Analysis through Hidden Markov Models, gnomAD Genome Aggregation Database, LRR Leucine-Rich Region, LRT likelihood ratio test, PRD Proline-Rich Domain, PROVEAN Protein Variation Effect Analyzer.

^aAccording to human genome assembly GRCh38.

^bAccording to NCBI reference sequence NP_001013860.1.

^cRepresents the maximum AAF of a variant in the databases taken into account.