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Table 1 Bardet-Biedl syndrome patients with resolved genotype

From: Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

  Sex Seg Gene Ex/ int Nucleotide substitution Protein substitution Het/Homo Type Score
[18]
Ref RS MAF
1 M Yes BBS2 ex9 c.1015C > T p.(Arg339*) Het nonsense P [14] rs193922710 N/A
BBS2 ex9 c.1062C > G p.(Asn354Lys) Het missense P    
2 M Yes BBS10 ex2 c.1091del p.(Asn364Thrfs*5) Het frameshift P [15] rs727503818 0.00005
BBS10 ex2 c.1677del p.(Tyr559*) Het nonsense P [4]   
3 M   BBS7 ex8 c.763A > T p.(Lys255*) Homo nonsense P    
4 F   BBS2 ex8 c.814C > T p.(Arg272*) Homo nonsense P [16, 17]   
BBS12 ex2 c.116 T > C p.Ile39Thr Het missense fSNP [19] rs138036823  
INPP5E ex1 c.532G > A p.Val178Met Het missense VUS    
5 M   BBS10 ex2 c.271dup p.(Cys91Leufs*5) Homo nonsense P [4, 20, 21] rs549625604 0.0007
6 F   BBS12 ex2 c.1063C > T p.(Arg355*) Homo nonsense P [22] rs121918327 0.00002
BBS1 ex12 c.1016A > T p.(His339Leu) Het missense VUS    
7 F Yes BBS10 ex2 c.641 T > A p.(Val214Glu) Homo missense P [23]   
8 M Yes BBS10 ex2 c.1676dup p.(Tyr559*) Het nonsense P [24]   
BBS10 ex2 c.962A > G p.(Tyr321Cys) Het missense LP [23]   
9 F   BBS12 ex2 c.1531_1539del p.(Gln511_Gln513del) Homo inframe del P [4, 19] rs752762669  
10 M Yes BBS1 ex1 c.46A > T p.(Ser16Cys) Het missense LP   rs772917364 0.008458
BBS1 ex13 c.1285dup p.(Arg429Profs*72) Het frameshift P    
BBS10 ex2 c.765G > A p.(Met255Ile) Het missense LB [25] rs139658279  
BBS14 ex10 c.829G > C p.(Glu277Gln) Het missense VUS [26] rs45502896  
11 M Yes BBS4 int5 c.332 + 2_332 + 3insTT   Het Insertion P [27] rs753360929  
BBS4 ex13 c.1091C > A p.(Ala364Glu) Het missense P [28] rs28938468  
BBS8 ex4 c.254A > G p.(Lys85Arg) Het missense VUS   rs150880478  
BBS2 ex9 c.986 T > C p.(Met329Thr) Het missense VUS   rs201146063  
12 F Yes BBS6 ex5 c.1235G > T p.(Cys412Phe) Homo missense LP    
  1. Never previously reported nucleotide substitutions are in bold
  2. Abbreviations: M male, F female, seg segregation performed, ex exon, int intron, dup duplication, del deletion, ins insertion, het heterozygous, homo homozygous, P pathogenic, LP likely pathogenic, LB likely benign, VUS variant unknown significance, fSNP functional single nucleotide polymorphism, Ref references, RS dbSNP accession number, MAF minor allele frequency