Osteogenesis Imperfecta (25 genes) - KUL

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Full name:
Osteogenesis Imperfecta (25 genes) - KUL
Abbreviation:
OI
Version number:
V1
Laboratory:
Centrum Menselijke Erfelijkheid - KUL
Created:
23 Aug 2023 - 09:33
Changed:
23 Aug 2023 - 09:45
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
ANO5 95.00 0 NM_213599.3
BMP1 95.00 0 NM_006129.5
COL1A1 95.00 0 NM_000088.4
COL1A2 95.00 0 NM_000089.4
CREB3L1 95.00 0 NM_052854.4
CRTAP 95.00 0 NM_006371.5
FKBP10 95.00 0 NM_021939.4
IFITM5 95.00 0 NM_001025295.3
LRP5 95.00 0 NM_002335.4
MBTPS2 95.00 0 NM_015884.4
P3H1 95.00 0 NM_022356.4
P4HB 95.00 0 NM_000918.4
PLOD2 95.00 0 NM_182943.3
PLS3 95.00 0 NM_005032.7
PPIB 95.00 0 NM_000942.5
SEC24D 95.00 0 NM_014822.4
SERPINF1 95.00 0 NM_002615.7
SERPINH1 95.00 0 NM_001235.5
SGMS2 95.00 0 NM_001136257.2
SP7 95.00 0 NM_001173467.3
SPARC 95.00 0 NM_003118.4
TENT5A 95.00 0 NM_017633.3
TMEM38B 95.00 0 NM_018112.3
WNT1 95.00 0 NM_005430.4
XYLT2 95.00 0 NM_022167.4