Table 2 Genetic features of CARMIL2-deficient patients.

	Patient 1	Patient 3	Patient 4
Chromosome position^a	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 change^b (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 AAF^c	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.

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