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. 2024 Oct 2;10(20):e38802. doi: 10.1016/j.heliyon.2024.e38802

Table 1.

Identified likely pathogenic and pathogenic variants in the solved patients with hearing loss.

Subject Ethnicity Gene Chromosome Transcript Genotype Protein change HGMD ClinVar GnomAD Zygosity ACMG Inheritance
PL32 Han SLC26A4 chr7:107323713 NM_000441 c.833delC p.T278fs Het Likely Pathogenic(PVS1+PM2) AR
SLC26A4 chr7:107323898 NM_000441 c.919-2A > G Reported Pathogenic 0.000336 Het Pathogenic (PVS1+PS3+PM2) AR
PL51 Han SLC26A4 chr7:107323898 NM_000441 c.919-2A > G Reported Pathogenic 0.000336 Het Pathogenic (PVS1+PS3+PM2) AR
SLC26A4 chr7:107334920 NM_00044 c. 1336T > C p.Q446X Reported Pathogenic 0.00000723 Het Pathogenic (PVS1+PM2+PP3) AR
PL67 Han SLC26A4 chr7:107323898 NM_000441 c.919-2A > G Reported Pathogenic 0.000336 Hom Pathogenic (PVS1+PS3+PM2) AR
EBH8 Han MYO7A chr11:76890874 NM_001127180 c. 2461C > T p.Q821X Reported Pathogenic Het Pathogenic (PVS1+PM2+PP3+
PP5)		 AR/AD
MYO7A chr11:76917153 NM_000260 c. 5648G > A p.R1883Q Reported Pathogenic 0.00003649 Het Likely pathogenic (PM1+PM2+ PP3+PP5) AR/AD
PL15 Han DIAPH3 chr13:60385059 NM_001042517 c.3028-2- > TAAG Het Likely pathogenic (PVS1+PM2) AD
PL23 Han DIAPH3 chr13:60385059 NM_001042517 c.3028-2- > TAAG Het Likely pathogenic (PVS1+PM2) AD
PL29 Han DIAPH3 chr13:60385059 NM_001042517 c.3028-2- > TAAG Het Likely pathogenic (PVS1+PM2) AD
PL50 Han WHRN chr9:117168961 NM_001173425 c.1890_1909del p.P630fs Hom Likely pathogenic (PVS1+PM2) AR
PL63 Han COL9A2 chr1:40768483 NM_001852 c.1604-2- > CTCC Het Likely pathogenic (PVS1+PM2) AR/AD
PL65 Han MYO7A chr11:76905496 NM_001127180 c.4251delC p.I1417fs Het Likely pathogenic (PVS1+PM2) AR/AD
PL8 Han MITF chr3:69990458 NM_198177 c.691delC p.P231fs Het Likely pathogenic (PVS1+PM2) AR/AD
DH5 Han CHD7 chr8:61778038 NM_017780 c.8541delA p.G2847fs Het Likely pathogenic (PVS1 +PM2) AD
DH66 Han TRIOBP chr22:38119391 NM_001039141 c.828_829
insAG		 p.P276fs Hom Likely pathogenic (PVS1+PM2) AR
DH68 Han USH1C chr11:17547893 NM_001297764 c.674 + 1
G > A		 Hom Likely pathogenic (PVS1 +PM2) AR
h201 Yi MYO7A chr11:76890874 NM_001127180 c. 2461 C > T p.Q821X Reported Pathogenic Het Pathogenic (PVS1+PM2+PP3+
PP5)		 AR/AD
MYO7A chr11:76901128 NM_001127180 c.3695_3705del p.R1232fs 0.00000526 Het Likely pathogenic (PVS1 +PM2) AR/AD
h248 Yi OTOF chr2:26700596 NM_001287489 c. 2236 C > T p.Q746X 0.00000407 Hom Pathogenic (PVS1+PM2+PP3) AR
K1 Yi OTOF chr2:26700596 NM_001287489 c. 2236 C > T p.Q746X 0.00000407 Hom Pathogenic (PVS1+PM2+ PP3) AR
L23 Yi MYO6 chr6:76554623 NM_001300899 c. 826 C > T p.R276X Pathogenic 0.00001627 Hom Pathogenic (PVS1+PM2+PP3+
PP5)		 AR/AD
h7 Yi TMPRSS3 chr21:43803307 NM_001256317 c.616_617
insAG		 p.A206fs Hom Likely pathogenic (PVS1+PM2) AR
h108 Yi MYO7A chr11:76895766 NM_001127179 c.3510_3531del p.V1170fs Hom Likely pathogenic (PVS1+PM2) AR/AD
h120 Yi TMPRSS3 chr21:43803307 NM_001256317 c.616_617
insAG		 p.A206fs Hom Likely pathogenic (PVS1+PM2) AR
h148 Yi SLC26A4 chr7:107312588 NM_000441 c.311_321
del		 p.A104fs Hom Likely pathogenic (PVS1+PM2) AR
h173 Yi TMPRSS3 chr21:43803307 NM_001256317 c.616_617
insAG		 p.A206fs Het Likely pathogenic (PVS1+PM2) AR
TMPRSS3 chr21:43803309 NM_001256317 c.617-2- > CT Het Likely pathogenic (PVS1+PM2) AR
K13 Yi DIAPH3 chr13:60385059 NM_001042517 c.3028-2- > TAAG Het Likely pathogenic (PVS1+PM2) AD
K18 Yi TMPRSS3 chr21:43803307 NM_001256317 c.616_617
insAG		 p.A206fs Hom Likely pathogenic (PVS1+PM2) AR
L4 Yi SLC26A4 chr7:107312588 NM_000441 c.311_321
del		 p.A104fs Hom Likely pathogenic (PVS1+PM2) AR
L9 Yi MSRB3 chr12:65847507 NM_198080 c.314-1G > C Hom Likely pathogenic (PVS1+PM2) AR
L19 Yi MSRB3 chr12:65847507 NM_198080 c.314-1G > C Hom Likely pathogenic (PVS1+PM2) AR
L38 Yi LHFPL5 chr6:35773827 NM_182548 c. 380 A > G p.Y127C Reported Pathogenic 0.00002844 Hom Likely pathogenic (PM1+PM2+PP2+
PP5)		 AR
h127 Yi USH2A chr1:216595579 NM_206933 c.99_100
insT		 p.R34fs Reported 0.00000362 Hom Likely pathogenic (PVS1 +PM2) AR



K64 Dai OTOF chr2:26706449 NM_001287489 c. 1273 C > T p.R425X Pathogenic 0.00001083 Hom Pathogenic (PVS1+PM2+PP3+
PP5)		 AR
s3 Dai SLC26A4 chr7:107315543 NM_000441 c. 754 T > C p.S252P Reported Pathogenic 0.00000406 Het Likely pathogenic (PM1+PM2+PP3+PP5+BP1) AR
SLC26A4 chr7:107338487 NM_000441 c.1546dupC p.F515fs Likely pathogenic 0.00002033 Het Likely pathogenic (PVS1+PM2) AR
s12 Dai SLC26A4 chr7:107315543 NM_000441 c. 754 T > C p.S252P Reported Pathogenic 0.00000406 Het Likely pathogenic (PM1+PM2+PP3+PP5+BP1) AR
SLC26A4 chr7:107338487 NM_000441 c.1546dupC p.F515fs 0.00002033 Het Likely pathogenic (PVS1+PM2) AR
s13 Dai SLC26A4 chr7:107315543 NM_000441 c. 754 T > C p.S252P Reported Likely pathogenic 0.00000406 Hom Likely pathogenic (PM1+PM2+PP3+PP5+BP1) AR
s72 Dai SLC26A4 chr7:107315543 NM_000441 c. 754 T > C p.S252P Reported Pathogenic 0.00000406 Het Likely pathogenic (PM1+PM2+PP3+PP5+BP1) AR
SLC26A4 chr7:107338487 NM_000441 c.1546dupC p.F515fs Likely pathogenic 0.00002033 Het Likely pathogenic (PVS1+PM2) AR



PL14 Miao LOXHD1 chr18:44122689 NM_144612 c.3748 + 1
G > A		 Het Likely pathogenic (PVS1+PM2) AR
LOXHD1 chr18:44127015 NM_144612 c. 3357 C > G p.Y1119X Het Pathogenic (PVS1+PM2+PP3) AR
h225 Miao MYO15A chr17:18035824 NM_016239 c. 4264 C > T p.Q1422X Het Pathogenic (PVS1+PM2+PP3) AR
MYO15A chr17:18049382 NM_016239 c.6471_6478del p.G2157fs Het Likely pathogenic (PVS1+PM2) AR
K55 Hani MYO15A chr17:18075606 NM_016239 c.10350 + 2
T > G		 0.00000406 Hom Likely pathogenic (PVS1+PM2) AR
V44 Bai MYO7A chr11:76858866 NM_001127180 c.156_157
del		 p.N52fs Hom Likely pathogenic (PVS1+PM2) AR/AD
V56 Bai MYO7A chr11:76858866 NM_001127180 c.156_157
del		 p.N52fs Hom Likely pathogenic (PVS1+PM2) AR/AD
s36 Lisu PAX3 chr2:223086019 NM_181461 c.879dupG p.F294fs Reported Het Likely pathogenic (PVS1 +PM2) AR/AD
PL9 Hui TMPRSS3 chr21:43803309 NM_001256317 c.617-2- > CT Hom Likely pathogenic (PVS1+PM2) AR
DH45 Achan USH2A chr1:215848878 NM_206933 c.12374_12375insAT p.F4125fs Hom Likely pathogenic (PVS1+PM2) AR

AD: autosomal dominant inheritance.

AR: autosomal recessive inheritance.

ACMG: American College of Medical Genetics.

HGMD: The Human Gene Mutation Database, http://www.hgmd.cf.ac.uk.

GnomAD: The Genome Aggregation Database, http://gnomad-sg.org/.