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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 VariantZygosityAmino acid changeSIFTPolyphen-2MutationTasterGERP++
MITF
NM_198159.2
c.1013C > T
HomozygousP338LTolerated
Score:0.92
Probably damaging
Score:1
Disease causing
Score:1
Conserved
Score:5.06
MYO15A
NM_016239
c.1454 T > C
HomozygousV485ADamaging
Score:0
Probably damaging
Score:0.9
Disease causing
Score:0.9
Conserved
Score:5.1
MYH14
NM_001145809
c.1150G > T
HeterozygousG384CDamaging
Score: 0
Probably damaging
Score:1
Disease causing
Score:1
Conserved
Score:3.42
MYO7A
NM_000260.3
c.5835 C > T
HeterozygousQ1855*NANADisease causing
Score:1
NA