Table 4 TMPRSS3 variants in study population

M1

NM_024022.4

c.46C>T

p.(Arg16*)

*

Truncating

Pathogenic

[37]

M2

NM_024022.4

c.208del

p.(his70fs)

*

Truncating

Pathogenic

[38]

M3

NM_024022.4

c.280G>T

p.(Gly94*)

LDLRA

Truncating

pathogenic

[39]

M4

NM_024022.4

c. 316C>T

p.(Arg106Cys)

Serine protease

Missense

(Likely) pathogenic

[39]

M5

NM_024022.4

c.323-6G>A

p.(Val108fs)

LDLRA

Truncating

(Likely) pathogenic

[4]

M6

NM_024022.4

c.325C>T

p.(Arg109Trp)

LDLRA

Missense

Pathogenic

[40]

M7

NM_024022.4

c.413C>A

p.(Ala138Glu)

SRCR

Missense

(Likely) pathogenic

[41]

M8

NM_024022.4

c.595G>A

p.(Val199Met)

SRCR

Missense

(Likely) pathogenic

[9]

M9

NM_024022.4

c.916G>A

p.(Ala306Thr)

Serine protease

Missense

(Likely) pathogenic

[42]

M10

NM_024022.4

c.936del

p.(Pro313fs)

Serine protease

Truncating

Likely pathogenic

**

M11

NM_024022.4

c.1276G>A

p.(Ala426Thr)

Serine protease

Missense

(Likely) pathogenic

[43]