List of variants studied for Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multiple epiphyseal dysplasia, Beighton type; Legg-Calve-Perthes disease; Kniest dysplasia; Namaqualand hip dysplasia; Spondyloperipheral dysplasia; Stickler syndrome type 1; Platyspondylic dysplasia, Torrance type; Spondyloepiphyseal dysplasia congenita; Spondyloepiphyseal dysplasia with metatarsal shortening; Stickler syndrome, type I, nonsyndromic ocular; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type by Fulgent Genetics, Fulgent Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.2308G>A (p.Val770Ile)	rs368583168	0.00005
NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser)	rs121912891	0.00001
NM_001844.5(COL2A1):c.1365+3A>C
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)	rs121912880
NM_001844.5(COL2A1):c.1529G>T (p.Gly510Val)
NM_001844.5(COL2A1):c.1693C>G (p.Arg565Gly)
NM_001844.5(COL2A1):c.1A>G (p.Met1Val)	rs2136652928
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)	rs794727261
NM_001844.5(COL2A1):c.3085G>T (p.Gly1029Cys)	rs2540110405
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)	rs756125516
NM_001844.5(COL2A1):c.4168A>C (p.Thr1390Pro)
NM_001844.5(COL2A1):c.4348A>G (p.Ile1450Val)	rs113238468
NM_001844.5(COL2A1):c.917_918delinsA (p.Gly306fs)

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