1 |
Family 1_II:2 |
JATD (3) |
n/a |
c.595G>C ;
p.Ala199Pro (Ex6) |
c.595G>C ; p.Ala199Pro (Ex6) |
(Shaheen
et al., 2015) |
2 |
Family 2_II:4 |
JATD (3) |
n/a |
c.595G>C ;
p.Ala199Pro (Ex6) |
c.595G>C ; p.Ala199Pro (Ex6) |
(Shaheen
et al., 2015) |
3 |
Family 3_II:1 |
JATD (3) |
yes |
c.595G>C ;
p.Ala199Pro (Ex6) |
c.595G>C ; p.Ala199Pro (Ex6) |
(Shaheen
et al., 2015) |
4 |
COR391 |
JBTS |
no |
c.581T>C ; p.Val194Ala (Ex6) |
c.581T>C ; p.Val194Ala (Ex6) |
(Roosing et al.,
2016) |
5 |
MTI-143 |
JBTS |
no (2) |
c.2177T>C ; p.Leu726Pro
(Ex16) |
c.2134C>T ; p.Leu712Phe (Ex16) |
(Roosing et al.,
2016) |
6 |
MTI-991 |
JBTS |
no |
c.49+5_49+10del ; p.Gly+1AspfsTer14 (?)
(Int2) |
c.49+5_49+10del ; p.Gly+1AspfsTer14 (?) (Int2) |
(Roosing et
al., 2016) |
7 |
MTI-1516 |
JBTS |
no |
c.1138_1139insA ; p.Ser380TyrfsTer19 (Ex9) |
c.1646C>T ; p.Ala549Val (Ex12) |
(Roosing et al.,
2016) |
8 |
MKS-2930 |
MKS/OFD |
yes |
c.2924T>G ; p.Ile975Ser
(Ex21) |
c.2924T>G ; p.Ile975Ser (Ex21) |
(Roosing et al.,
2016) |
9 |
SW-476410 |
TCDOE |
no |
c.451C>T ; p.Arg151Ter (Ex5) |
c.595G>C ; p.Ala199Pro (Ex6) |
(Roosing et al.,
2016) |