Table 2.

CIB2 Variants and Phenotype Correlation

Family	Phenotype	Origin	gDNA	cDNA	Protein	Type	Domain	gnomAD (%)	Conservation		Deleterious					REF
									GERP	PhyloP	PP2	SIFT	MT	LRT	CADD
L-3156	NSHL	Iranian	78413407_78416520del	c.52_86del	p.Asp18Alafs*7	CNV/frameshift		0	-	-	-	-	-	-	-	This study
Trio-B	NSHL	European American	78403509G>A	c.196C>T	p.Arg66Trp	missense	EF-1	0.002	C	C	D	D	D	D	34	This study + [14]
			78401614_78401623del	c.300_309del	p.Glu100fs*28	frameshift	EF-2	0.006	-	-	-	-	-	-	35	This study
Trio-C	NSHL	European	78401700C>T	c.223G>A	p.Val75Met	missense	EF-1	0.003	C	C	D	D	D	D	29.7	This study + [17]
51550	NSHL	European American	78403506C>T	c.198+1G>A		splice-site		0	C	C	-	-	D	-	25.3	This study
661	NSHL	Turkish	78401593A>T	c.330T>A	p.Tyr110Ter	nonsense	EF-2	0	C	C	-	-	-	-	36
L-1644	NSHL	Iranian	78401579T>C	c.344A>G	p.Tyr115Cys	missense	EF-2	0	C	C	D	D	D	D	27
07-1069	NSHL	Dutch	78403608G>A	c.97C>T	p.Arg33Ter	nonsense		0.006	C	C	-	-	-	D	36	[14]
PKDF117	USH1	Pakistani	78403513C>G	c.192G>C	p.Glu64Asp	missense		0.0004	C	C	D	D	D	D	24	[12]
PKDF*	NSHL	Pakistani	78401651A>G	c.272T>C	p.Phe91Ser	missense	EF-1	0.003	C	C	D	D	D	D	29.9
DEM4025 DEM4225	NSHL	Pakistani	78401626G>C	c.297C>G	p.Cys99Trp	missense	EF-1	0.001	C	C	D	D	D	D	27	[12,14]
802	NSHL	Turkish	78398237A>G	c.386T>C	p.Ile123Thr	missense	EF-2	0	C	C	-	-	-	-	-	[12]
JS	NSHL	Hispanic	78397661G>A	c.556C>T	p.Arg186Trp	missense		0.005	C	C	D	D	D	D	35	[13]

Nucleotide numbering: the A of the ATG translation initiation site is noted as +1 using transcript NM_006383 of CIB2. NSHL, non-syndromic hearing loss; USH1, Usher Syndrome Type 1; C, predicted Conserved; D, predicted Damaging or Deleterious; -, data not available; EF, EF-hand; PP2, PolyPhen-2; MT, MutationTaster. Dashes denote mutations outside functional domains. An “*” indicates a founder mutation identified in a total of 56 Pakistani families. Italics indicate previously described variants also identified in this study.