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) |