Table 2 Patient characteristics TMPRSS3-Group

^A1

^F

^c.413C>A

^{p.(Ala138Glu)}

^c.916G>A

^{p.(Ala306Thr)}

^7.5

^2.5

^Severe

^Normal

⁻

⁺

^Right

^{CI24RE (ST)}

^B1

^F

^c.208del

^p.(his70fs)

^c.1276G>A

^{p.(Ala426Thr)}

¹²

¹³

^Profound

^Hyporeflexia

⁺

⁺

^Right

^{CI24RE (CA)}

^C1−1

^F

^c.208del

^p.(his70fs)

^c..916G>A

^{p.(Ala306Thr)}

¹

³

^Severe

^Normal

⁻

⁺

^Left

^{CI24RE (CA)}

^C1−2

¹⁰

^Profound

^Normal

⁺

^Right

^CI512

^D1−1

^F

^c.595G>A

^{p.(Val199Met)}

^c.936del

^p.(Pro313fs)

^2.5

^2.5

^Profound

^Normal

⁻

⁺

^Links

^{CI24RE (ST)}

^D1−2

^Profound

^Normal

⁺

^Right

^{CI24RE (ST)}

^E1

^M

^c.413C>A

^{p.(Ala138Glu)}

^c.595G>A

^{p.(Val199Met)}

¹³

⁴

^Moderate

^Normal

⁻

⁺

^Right

^CI422

^F1−1

^M

^c.413C>A

^{p.(Ala138Glu)}

^c.595G>A

^{p.(Val199Met)}

^3.5

^2.5

^Profound

^Normal

⁻

⁺

^Right

^CI522

^F1−2

^6.5

^Profound

^Normal

⁺

^Left

^{CI24RE (ST)}

^G1

^F

^c.413C>A

^{p.(Ala138Glu)}

^c.916G>A

^{p.(Ala306Thr)}

⁴⁴

⁸

^Profound

^Normal

⁻

⁺

^Left

^{CI24RE (CA)}

^H1

^M

^c.413C>A

^{p.(Ala138Glu)}

^c.916G>A

^{p.(Ala306Thr)}

¹⁷

¹²

^Profound

^Hyporeflexia

⁻

⁺

^Right

^CI522

^I1

^M

^c.413C>A

^{p.(Ala138Glu)}

^c.595G>A

^{p.(Val199Met)}

^<12

^<4

^Moderate

^Normal

⁻

⁻

^Right

^CI632

^J1−1

^M

^c.916G>A

^{p.(Ala306Thr)}

^c.280G>T

^p.(Gly94*)

^NA

^<4

^Profound

^NA

⁻

⁻

^Left

^CI632

^J1−2

^Profound

^Right

^CI632

^K1

^F

^c.325C>T

^Arg109Trp

^c.1276G>A

^{p.(Ala426Thr)}

²⁰

²⁶

^Profound

^Normal

⁻

⁺

^Left

^{CI24REH (hybrid L24)}

^L1−1

^F

^c.595G>A

^{p.(Val199Met)}

^c.916G>A

^{p.(Ala306Thr)}

⁴

²

^Profound

^Normal

⁻

⁺

^Left

^{AB Clarion C−II, Hifocus−1}

^L1−2

⁵

^Profound

⁺

^Right

^{CI24RE (CA)}

^M1

^F

^c.208del

^p.(his70fs)

^c.1276G>A

^{p.(Ala426Thr)}

⁴¹

⁶

^Profound

^Normal

⁻

⁺

^Left

^{AB Clarion C−II, Hifocus−1}

^M2

^M

^c.208del

^p.(his70fs)

^c.1276G>A

^{p.(Ala426Thr)}

³⁵

¹²

^Profound

^{Hyperreflexia}

⁻

⁺

^Left

^{AB Clarion C−II, Hifocus−1}

^M3

^M

^c.208del

^p.(his70fs)

^c.1276G>A

^{p.(Ala426Thr)}

²⁴

²⁰

^Profound

^Normal

⁻

⁺

^Left

^{AB HiRes 90 K Advantage, HiFocus Mid−Scala}

^M4

^F

^c.208del

^p.(his70fs)

^c.1276G>A

^{p.(Ala426Thr)}

³⁴

¹⁶

^Profound

^{Hyperreflexia}

⁻

⁻

^Left

^CI612

^N1

^M

^c.413C>A

^{p.(Ala138Glu)}

^c.413C>A

^{p.(Ala138Glu)}

⁴¹

¹⁰

^Profound

^Normal

⁻

⁺

^Left

^CI24M

^O1

^M

^c.323−6G>A

^p.(Val108fs)

^c.413C>A

^{p.(Ala138Glu)}

²⁵

³

^Profound

^{Hyperreflexia}

⁻

⁺

^Right

^{CI24RE (ST)}

^O2

^M

^c.323−6G>A

^p.(Val108fs)

^c.413C>A

^{p.(Ala138Glu)}

²⁶

⁴

^Profound

^Hyporeflexia

⁻

⁻

^Left

^CI512

^P1

^M

^c.413C>A

^{p.(Ala138Glu)}

^c.413C>A

^{p.(Ala138Glu)}

^NA

^NA

^Profound

^Normal

⁻

⁻

^Right

^{CI24RE (CA)}

^Q1

^M

^c.46C>T

^p.(Arg16*)

^c.595G>A

^{p.(Val199Met)}

²

⁸

^Profound

^NA

⁻

⁺

^Right

^{Med−El concerto flex28}

^R1−1

^M

^c.916G>A

^{p.(Ala306Thr)}

^c.916G>A

^{p.(Ala306Thr)}

²

⁶

^Severe

^NA

⁻

⁻

^Right

^CI532

^R1−2

^Severe

⁻

^Left

^CI632

^S1

^F

^c.413C>A

^{p.(Ala138Glu)}

^c.916G>A

^{p.(Ala306Thr)}

¹⁵

¹⁶

^Profound

^NA

⁻

⁺

^Right

^{CI24REH (hybrid L24)}

^T1

^M

^c.413C>A

^{p.(Ala138Glu)}

^c.1276G>A

^{p.(Ala426Thr)}

²²

⁴⁰

^Profound

^Normal

⁻

⁻

^Left

^{AB HiRes 90 K Advantage, HiFocus Mid−Scala}

^U1

^F

^c.916G>A

^{p.(Ala306Thr)}

^c.316C>T

^{p.(Arg106Cys)}

³⁶

¹⁸

^Profound

^Normal

⁻

⁻

^Left

^{AB HiRes 90 K Advantage, HiFocus Mid−Scala}

^V1

^F

^c.413C>A

^{p.(Ala138Glu)}

^c.208del

^p.(his70fs)

¹

¹²

^Severe

^NA

⁻

⁻

^Left

^CI632

^W1

^M

^c.413C>A

^{p.(Ala138Glu)}

^c.916G>A

^{p.(Ala306Thr)}

⁹

⁰

^Severe

^NA

⁻

⁻

^Right

^CI532