Supplementary table 1. The 61 genes included in targeted exon sequencing.
gene name / cDNA length (bp) / exon numberCOMP / 2471 / 19
COL9A1 / 3805 / 39
COL9A2 / 2831 / 32
COL9A3 / 2486 / 32
MATN3 / 2601 / 8
EVC 1 / 6431 / 21
EVC 2 / 4864 / 23
COL1A1 / 5928 / 51
COL1A2 / 5411 / 52
COL2A1 / 5087 / 54
COL11A1 / 7327 / 68
COL11A2 / 6425 / 66
FGFR3 / 4310 / 19
SLC26A2 / 8082 / 3
Dll3 / 2389 / 8
WISP-3 / 1332 / 6
RMRP / 277 / 1
TRPV4 / 3250 / 16
PHEX / 2861 / 22
FGF23 / 3018 / 3
DMP1 / 2693 / 6
ENPP1 / 7442 / 25
ACAN / 8840 / 18
HSPG2 / 14294 / 97
FLNA / 8557 / 48
FLNB / 9560 / 47
PTHR1 / 2144 / 17
ACP5 / 1664 / 7
CHST3 / 6978 / 3
CHST14 / 2213 / 1
COL10A1 / 3307 / 3
MMP13 / 2736 / 10
MMP9 / 2387 / 12
DYM / 2628 / 17
SMARCAL1 / 3281 / 19
EIF2AK3 / 4665 / 17
Trappc2 / 2869 / 6
NKX3-2 / 2241 / 2
SLC39A13 / 2429 / 10
ADAMTSL2 / 4083 / 20
SHOX / 3757 / 6
Glypican 6 / 3686 / 9
ROR2 / 4099 / 9
NPR2 / 3447 / 22
TRPS1 / 9970 / 7
IHH / 2074 / 3
GDF5 / 2383 / 2
CUL7 / 5527 / 26
OBSL1 / 6118 / 22
TBCE / 1973 / 17
EBP / 1191 / 5
ARSE / 2220 / 11
PEX7 / 1499 / 10
DHPAT / 2687 / 16
AGPS / 7674 / 20
ALPL / 2606 / 12
CLCN5 / 10108 / 16
SLC34A3 / 2177 / 13
CASR / 5011 / 8
FBN1 / 11695 / 65
FBN2 / 10724 / 65