. 2021 Feb 17;11:4036. doi: 10.1038/s41598-021-83493-6

Table 4.

Diagnoses solely made by exome sequencing.

Patient ID	Gene transcript	Variant	Zygosity	Classification	Criteria applied	Reference PubMed ID	Inheritance	Onset	Severity	Family history
P11	SLC26A4 NM_000441.1	c.1229C>T (p.Thr410Met)#	Het	Pathogenic	PS4, PM1, PM2_Supporting, PM3_VeryStrong, PM5, PP3, PP4	23151025; 28786104; 23638949	AR	Post-lingual	Profound	YES
P11	SLC26A4 NM_000441.1	c.164 + 1G>C	Het	Pathogenic	PVS1, PM2, PM3	25724631	AR	Post-lingual	Profound	YES
P15	COL11A2 NM_080680.2	c.966_967insC (p.Thr323Hisfs*19)	Het	Pathogenic	PVS1, PM2, PM3_Supporting	29456477	AR	Prelingual	Severe	NO
P15	COL11A2 NM_080680.2	c.1879C>T (p.Arg627*)	Het	Likely pathogenic	PVS1, PM2	Novel	AR	Prelingual	Severe	NO
P27	MARVELD2 NM_001038603.2	c.1208_1211del (p.Arg403Lysfs*11)	Hemi	Likely pathogenic	PVS1, PM2	Novel	AR	Post-lingual	Profound	NO
P27	MARVELD2 NM_001038603.2	EX3_EX5 DEL	Het	Likely pathogenic	PVS1, PM2	Novel	AR	Post-lingual	Profound	NO
P35	MYO15A NM_016239.3	c.8791delT (p.Trp2931Glyfs*103)	Het	Pathogenic	PVS1, PM2, PM3_Supporting	30953472; 23767834	AR	Prelingual	Profound	NO
P35	MYO15A NM_016239.3	c.10419_10423del (p.Ser3474Profs*42)	Het	Pathogenic	PVS1_Moderate, PM2, PM3	10.15761/OHNS.1000207	AR	Prelingual	Profound	NO
P44	MITF NM_000248.3	c.763C>T (p.Arg255*)	Het	Pathogenic	PVS1, PS3_Supporting, PM2, PP1, PP4	24194866; 29094203; 29531335	AD	Prelingual	Profound	NO
P58	MYO15A NM_016239.3	c.7308delA (p.Arg2436Serfs*34)	Het	Likely pathogenic	PVS1, PM2	Novel	AR	Prelingual	Profound	NO
P58	MYO15A NM_016239.3	c.9690 + 1G>A	Het	Pathogenic	PVS1, PM2, PM3	29849560	AR	Prelingual	Profound	NO
P59	CDH23 NM_022124.5	c.9389_9390delCT (p.Pro3130Argfs*19)	Hom	Pathogenic	PVS1, PM2, PM3	29568747	AR	Prelingual	Profound	NO
P76	SLC26A4 NM_000441.1	c.919-2A>G#	Het	Pathogenic	PVS1, PS4, PM3_VeryStrong, PP4, BS1	25149764; 23638949	AR	Prelingual	Severe	NO
P76	SLC26A4 NM_000441.1	c.916dupG (p.Val306Glyfs*24)	Het	Pathogenic	PVS1, PM2, PM3, PP4	26252218; 17718863	AR	Prelingual	Severe	NO
P97	COL11A2 NM_080680.2	c.4135C>T (p.Arg1379*)	Het	Pathogenic	PVS1, PM2, PP1	15372529	AD	Post-lingual	No record	YES
P104	MYO15A NM_016239.3	c.4039-2A>C	Het	Likely pathogenic	PVS1, PM2	Novel	AR	Prelingual	Profound	NO
P104	MYO15A NM_016239.3	c.7720C>T (p.Gln2574*)	Het	Pathogenic	PVS1, PM2, PP1_Strong	30943474	AR	Prelingual	Profound	NO
P111	SOX10 NM_006941.3	c.482G>A (p.Arg161His)	Het	Likely Pathogenic	PS2, PS3_Supporting, PM2, PP4	31152317; 21898658; 28000701	AD	Prelingual	Profound	NO
Probable diagnoses
P52	OTOA NM_144672.3	c.1352G>A (p.Gly451Asp)	Het	Likely pathogenic	PM2, PP1_Strong, PP3	23173898	AR	Prelingual	Moderate	NO
P52	OTOA NM_144672.3	c.1265G>T (p.Gly422Val)	Het	VUS	PM2_Supporting	Novel	AR	Prelingual	Moderate	NO
P63	TRIOBP NM_001039141.2	c.4919A>G (p.Asn1640Ser)	Het	VUS	PM2_Supporting, BP4	Novel	AR	Prelingual	Severe	YES
P63	TRIOBP NM_001039141.2	c.5185-2A>G	Het	Likely pathogenic	PVS1, PM2	Novel	AR	Prelingual	Severe	YES
P89	TMPRSS3 NM_024022.2	c.551T>C (p.Leu184Ser)	Het	Likely Pathogenic	PS3_Supporting, PM2_Supporting, PM3_Strong, PP1	31379920; 31016883; 32235586	AR	Prelingual	Profound	NO
P89	TMPRSS3 NM_024022.2	c.235T>C (p.Cys79Arg)	Het	VUS	PM2, PP3	Novel	AR	Prelingual	Profound	NO
P102	BSND NM_057176.2	c.88C>T (p.Arg30Trp)	Het	VUS	PM2	Novel	AR	Prelingual	Profound	NO
P102	BSND NM_057176.2	c.318delC (p.Tyr107MetfsTer13)	Het	Likely pathogenic	PVS1, PM2	Novel	AR	Prelingual	Profound	NO

All patients received a negative or inconclusive result in the multiplex PCR test. Hom homozygous, Het heterozygous, Hemi hemizygous, AR autosomal recessive, AD autosomal dominant. ^#Variants also detected by multiplex PCR; Patient P63 is also a carrier of NM_004004.5(GJB2):c.235delC; Patient P89 is also a carrier of NM_000441.1(SLC26A4):c.2168A>G.