Table 4.

Pathogenic Mutation Candidates Combined with One Known Pathogenic Variant Detected by the Invader Assay or TaqMan Genotyping Assay of the Same Genes

Gene	Pathogenic mutations detected by Invader assay or TaqMan genotyping assays as heterozygous	MPS detected mutations found in the same gene
GJB2	NM_004004:c.235delC:p.L79fs	NM_004004:c.511_512insAACG:p.A171fs
GJB2	NM_004004:c.235delC:p.L79fs	NM_004004:c.511_512insAACG:p.A171fs
GJB2	NM_004004:c.235delC:p.L79fs	NM_004004:c.C257T:p.T86M
GJB2	NM_004004:c.235delC:p.L79fs	NM_004004:c.T595C:p.S199P
GJB2	NM_004004:c.235delC:p.L79fs	NM_004004:c.558_559ins46:p.E187_K188delins
GJB2	NM_004004:c.C427T:p.R143W	NM_004004:c.A583G:p.M195V
GJB2	NM_004004:c.G109A:p.V37I	NM_004004:c.C379T:p.R127C
GJB2	NM_004004:c.C408A:p.Y136X	NM_004004:c.558_559ins46:p.E187_K188delins
GJB2	NM_004004:c.C257G:p.T86R	NM_004004:c.C53G:p.T18S
GJB2	NM_004004:c.176_191del:p.59_64del	NM_004004:c.511_512insAACG:p.A171fs
SLC26A4	NM_000441:c.A2168G:p.H723R	NM_000441:c.A641G:p.Y214C
SLC26A4	NM_000441:c.A2168G:p.H723R	NM_000441:c.T863A:p.L288X
SLC26A4	NM_000441:c.A2168G:p.H723R	NM_000441:c.T863A:p.L288X
SLC26A4	NM_000441:c.A2168G:p.H723R	NM_000441:c.T945A:p.Y315X
SLC26A4	NM_000441:c.A2168G:p.H723R	NM_000441:c.T2123C:p.F708S
SLC26A4	NM_000441:c.C2162T:p.T721M	NM_000441:exon7:c.918+1G>A
SLC26A4	NM_000441:c.C1229T:p.T410M	NM_000441:exon11:c.1264-2A>G)
CDH23	NM_001171930:c.C719T:p.P240L	NM_001171930:c.G1282A:p.D428N
CDH23	NM_001171930:c.C719T:p.P240L	NM_001171933:c.2079_2085del:p.693_695del
CDH23	NM_001171930:c.C719T:p.P240L	NM_001171933:c.2265dupT:p.H755fs
CDH23	NM_001171930:c.C719T:p.P240L	NM_022124:c.G4672A:p.G1558R
CDH23	NM_022124:c.C4762T:p.R1588W	NM_022124:c.G5419A:p.V1807M
CDH23	NM_022124:c.C4762T:p.R1588W	NM_001171933:c.G746A:p.R249H
MYO15A	NM_016239:c.C9478T:p.L3160F	NM_016239:c.A9938C:p.H3313P
OTOF	NM_194323:c.G3515A:p.R1172Q	NM_194322:c.G1186A:p.G396R