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Table 1 Pathogenicity scores of detected variants assessed by SIFT, PolyPhen2, Mutation Taster, and GERP++ software

From: Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF

Allelic Variant

Zygosity

Amino acid change

SIFT

Polyphen-2

MutationTaster

GERP++

MITF

NM_198159.2

c.1013C > T

Homozygous

P338L

Tolerated

Score:0.92

Probably damaging

Score:1

Disease causing

Score:1

Conserved

Score:5.06

MYO15A

NM_016239

c.1454 T > C

Homozygous

V485A

Damaging

Score:0

Probably damaging

Score:0.9

Disease causing

Score:0.9

Conserved

Score:5.1

MYH14

NM_001145809

c.1150G > T

Heterozygous

G384C

Damaging

Score: 0

Probably damaging

Score:1

Disease causing

Score:1

Conserved

Score:3.42

MYO7A

NM_000260.3

c.5835 C > T

Heterozygous

Q1855*

NA

NA

Disease causing

Score:1

NA