20

f

56.5

42-17

8-2-10

15

h

COL6A3 p.Ala876Val c.2627C>T unknown VUS VADU-4+

Vi8 (Path-2)G1H1 NM_004369.3-1pt

AAD-mEDS-Nrv-Nm COL6A3 M120250 a/w Bethlem

myopathy-1 M158810, AR Ulrich dystrophy-1 M254090

21

f

17.1

37-17

7-1-8

12

h

COL12A1 p.Thr826Met c.2477 C>T patSx VUS VADU-4+

Vi5 (LkPath-1)G1H2 new

AAD-mEDS-Nrv-Nm COL12A1 M130230 a/w Bethlem myopathy-2 M646471;

22

f

42.0

41-22

8-2-9

14

d

COL7A1 p.Gly1568Ser c.4732G>A matSx Path VADU-4+

Vi6 (LkPath-1)G1H2 new

AAD-hEDS-Cut COL7A1 M120120 a/w

epidermolysis bullosa M132000+;

23

f

17.3

28-22

3-2-9

11

h

FLG p.Arg501X c.1501C>T pat Path VADU

Vi8 (Path-2)G2H0 1.6% rs61816761-pt5-Path4-ichthyosis

AAD-hEDS-Cut FLG filaggrin M135940 a/w ichthyosis M146700 and atopic dermatitis-2 M605803