Table 1.

Variants observed in SLC26A4 gene among the South Indian NSHL patients

Mutation	Type	Zygocity	dbSNP	clinvar	Category	Allele Frequency (n) in percentage
N246fs	Frameshift	Heterozygous	rs918684449	RCV000806485.1	Pathogenic	1.42
K564fs	Frameshift	Heterozygous	rs746427774	RCV000795419.1	Pathogenic	1.42
F122fs	Frameshift	Homozygous	-	VCV001069540.1	Pathogenic	1.42
V239D	Missense	Homozygous	rs111033256	RCV000724118.2	Pathogenic	1.42
T721M	Missense	Heterozygous	rs121908363	VCV000004826.10	Pathogenic	1.42
S399P	Missense	Heterozygous	rs747431002	RCV000669625.1	Uncertain	1.42
I455F	Missense	Heterozygous	rs375576481	RCV000710343.3	Benign	4.28
L597S	Missense	Heterozygous	rs55638457	VCV000043525.10	Uncertain	1.42
G6V	Missense	Heterozygous	rs111033423	RCV000169379.1	Likely benign	1.42
1544+9C>T	Intron	Heterozygous	rs368970459	RCV000835659.1	Likely benign	1.42
1708-18T>A	Intron	Heterozygous	rs55701254	RCV000244473.1	Benign	1.42
1438-7delT	Intron	Heterozygous	rs753586849	RCV000668233.1	Uncertain	1.42
*868G>A	3' UTR	-	rs2712218	VCV000358515.2	Benign	81.42

UTR=Untranslated Region.