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 |