Family ID (9) Patient ID Phenotype Kidney phenotype (2) Allele 1 (Ex,Int) Allele 2 (Ex,Int) Reference
15 UW41-IV:1 JSRD no c.2848C>T ; p.Arg950Ter (Ex23) c.2848C>T ; p.Arg950Ter (Ex23) (Gorden et al., 2008)
16 UW47-II:1 JBTS no c.3055C>T ; p.Arg1019Ter (Ex25) c.3288G>C ; p.Gln1096His (Ex26) (Gorden et al., 2008)
20 UM10 MKS n/a c.3084del ; p.Lys1029ArgfsTer3 (Ex25) c.4179+1del (Int33) (Tallila et al., 2009)
26 MKS-54 MKS yes c.517C>T ; p.Arg173Ter (Ex8) c.517C>T ; p.Arg173Ter (Ex8) (Mougou-Zerelli et al., 2009)
29 MKS-977 MKS yes c.3084del ; p.Lys1029ArgfsTer3 (Ex25) c.3084del ; p.Lys1029ArgfsTer3 (Ex25) (Mougou-Zerelli et al., 2009)
33 MKS-365 MKS yes c.2773C>T ; p.Arg925Ter (Ex22) (?) (3) c.2486+1G>C (Int20) (Mougou-Zerelli et al., 2009)
34 UW67 JSRD yes c.3347C>T ; p.Thr1116Met (Ex27) c.3145C>T ; p.Arg1049Ter (Ex25) (Doherty et al., 2010)
35 F434-21 JSRD no c.517C>T ; p.Arg173Ter (Ex8) c.1676T>C ; p.Leu559Pro (Ex16) (Otto et al., 2011)
36 A2421-21 MKS yes c.3544T>C ; p.Trp1182Arg (Ex29) c.3774dup ; p.Glu1259Ter (Ex31) (Otto et al., 2011)
38 M506 MKS n/a c.3084del ; p.Lys1029ArgfsTer3 (Ex25) c.3084del ; p.Lys1029ArgfsTer3 (Ex25) (Hopp et al., 2011)
40 UW75-3 JBTS no c.1676T>C ; p.Leu559Pro (Ex16) c.3892_3893del ; p.Val1298PhefsTer17 (Ex31) (Bachmann-Gagescu et al., 2012)
42 UW78-3 JBTS n/a c.3055C>T ; p.Arg1019Ter (Ex25) c.4667A>T ; p.Asp1556Val (Ex37) (Bachmann-Gagescu et al., 2012)
43 UW79-3 JBTS no c.1263_1264insGGCATGTTTTGGC ; p.Ser422GlyfsTer19 (Ex13) (4) c.3452T>C ; p.Val1151Ala (Ex28) (Bachmann-Gagescu et al., 2012)
43 UW79-4 JBTS no c.1263_1264insGGCATGTTTTGGC ; p.Ser422GlyfsTer19 (Ex13) (4) c.3452T>C ; p.Val1151Ala (Ex28) (Bachmann-Gagescu et al., 2012)
51 128 MKS n/a c.3544T>C ; p.Trp1182Arg (Ex29) c.3774dup ; p.Glu1259Ter (Ex31) (Szymanska et al., 2012)
61 MKS yes c.3774dup ; p.Glu1259Ter (Ex31) c.4550C>G ; p.Thr1517Ser (Ex37) (Jones, Fiozzo, Waters, McKnight, & Brown, 2014)
62 MTI-127 JBTS/JSRD (5) n/a c.4583G>A ; p.Arg1528His (Ex37) (6) c.3082del ; p.Arg1028GlyfsTer4 (Ex25) (7) (Ben-Salem, Al-Shamsi, Gleeson, Ali, & Al-Gazali, 2014)
67 3 JBTS/MKS (8) n/a c.2803C>T ; p.Arg935Ter (Ex22) c.3774dup ; p.Glu1259Ter (Ex31) (Watson et al., 2016)
68 4 JBTS/MKS (8) n/a c.2875del ; p.Glu959AsnfsTer3 (Ex23) c.2875del ; p.Glu959AsnfsTer3 (Ex23) (Watson et al., 2016)
69 FT-1 MKS yes c.3084del ; p.Lys1029ArgfsTer3 (Ex25) c.3084del ; p.Lys1029ArgfsTer3 (Ex25) (Al-Hamed et al., 2016)
73 FT-15 MKS yes c.3084del ; p.Lys1029ArgfsTer3 (Ex25) c.3084del ; p.Lys1029ArgfsTer3 (Ex25) (Al-Hamed et al., 2016)
74 FT-21 MKS yes c.3084del ; p.Lys1029ArgfsTer3 (Ex25) c.3084del ; p.Lys1029ArgfsTer3 (Ex25) (Al-Hamed et al., 2016)
76 F850-21 Cogan yes c.1267C>T ; p.Arg423Ter (Ex13) c.4667A>T ; p.Asp1556Val (Ex37) (Schueler et al., 2016)
79 JSRD yes c.2581G>A ; p.Asp861Asn (Ex21) c.2848C>T ; p.Arg950Ter (Ex23) (Xiao et al., 2017)
84 44:36 JBTS no c.3744_3747dup ; p.Pro1250GlyfsTer11 (Ex30) (9) c.3989G>A ; p.Arg1330Gln (Ex32) (Vilboux et al., 2017)
84 45:36 JBTS no c.3744_3747dup ; p.Pro1250GlyfsTer11 (Ex30) (9) c.3989G>A ; p.Arg1330Gln (Ex32) (Vilboux et al., 2017)