Table 1 Sequence variants identified in the BBS patients who tested positive to the molecular analysis

P.1^a

c.664G>C/c.664G>C (p.G222R)

N/N

N/N

P.2^a

c.664G>C/c.664G>C (p.G222R)

na

na

P.3^a,b

c.1169T>G/c.1169T>G (p.M390R)

na

na

P.4^a,b

c.1169T>G / c.1169T>G (p.M390R)

na

na

P.5^a

c.1169T>G / c.1169T>G (p.M390R)

na

na

P.6

c.1169T>G/c.1642delC (p.M390R/p.L548Wfs*31)

na

na

P.7

c.592-59G>A/N

N/N

N/N

P.8

c.1702G>A/N (p.V568M)

c.84delC/c.1059dupT (p.P29Rfs*50/p.N354X)

N/N

P.9

N/N

c.225T>G/c.225T>G (p.V75G)

N/N

P.10

N/N

c.2144G>A/N (p.R715Q)

N/N

P.11

N/N

c.986T>C/N (p. M329T)

N/N

P.12

N/N

c.535-79_90del/N

c.2137_2140del/c.962A>G (p.K713Ffs*16/p.Y321C)

P.13

na

na

c.235dupA/c.271dupT (T79Nfs*17/p.C91LfsX5)

P.14^a

na

na

c.509T>C/c.509T>C (p.L170S)

P.15^a

N/N

N/N

c.641T>A/c.641T>A (p.V214E)