Family ID Patient ID Phenotype Kidney phenotype (1) Allele 1 (Ex,Int) Allele 2 (Ex,Int) Reference
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)