NM_017813.5(BPNT2):c.559C>T (p.Arg187Ter)Pathogenic
Chondrodysplasia with joint dislocations, gPAPP type|not provided
β
β
ββ2022β Residue 187
NM_017813.5(BPNT2):c.421C>T (p.Gln141Ter)Pathogenic
not provided
β
βββ2025β Residue 141
NM_017813.5(BPNT2):c.532dup (p.Ala178fs)Pathogenic
not provided
β
βββ2025β Residue 178
NM_017813.5(BPNT2):c.118_130dup (p.Glu44fs)Pathogenic
not provided
β
βββ2024β Residue 44
NM_017813.5(BPNT2):c.1007T>C (p.Leu336Pro)Likely pathogenic
Chondrodysplasia with joint dislocations, gPAPP type
β
βββ2024β Residue 336
NM_017813.5(BPNT2):c.713_714insCTTCCTATGG (p.Arg238fs)Likely pathogenic
Chondrodysplasia with joint dislocations, gPAPP type
β
βββ2024β Residue 238
NM_017813.5(BPNT2):c.473_474dup (p.Thr159Ter)Pathogenic
Chondrodysplasia with joint dislocations, gPAPP type
β
βββ2021β Residue 159
NM_017813.5(BPNT2):c.972_973del (p.Ser324fs)Likely pathogenic
not provided
β
βββ2017β Residue 324
NM_017813.5(BPNT2):c.324del (p.Ser108fs)Pathogenic
Chondrodysplasia with joint dislocations, gPAPP type
ββββ2012β Residue 108
NM_017813.5(BPNT2):c.547A>C (p.Thr183Pro)Pathogenic
Chondrodysplasia with joint dislocations, gPAPP type
ββββ2011β Residue 183
NM_017813.5(BPNT2):c.529G>A (p.Asp177Asn)Pathogenic
Chondrodysplasia with joint dislocations, gPAPP type
ββββ2011β Residue 177