TMEM216 |
|
p.R73L; p.R73C |
[9, 54] |
TMEM237 |
|
pR18 |
[36] |
TMEM67 |
|
p.Asn242Ser |
[37] |
TMEM67 |
|
p.Arg110Gly; p.Ser771Pro; p.Arg764*; p.Gly132Ala; p.Ser159Pro; p.Met252Thr; p.Tyr513*; p.Ala145Ser |
[15] |
KIAA0586 (orthologue of TALPID3) |
c.230C>G |
p.Ser77* |
[44] |
KIAA0586 (orthologue of TALPID3) |
c.230C>G |
|
[44] |
TALPID3 |
c.428delG |
|
[45] |
RPGRIP1L |
c.1810G>A |
p.Glu604Lys |
[46] |
TMEM67/ RPGRIP1L |
c.6012-12T>A |
|
[15] |
TMEM138/ BBS1 |
c.6012-12T>A |
|
[15] |
INPP5E |
c.1064C>T |
p.T355M |
[47] |
TTC21B |
c.2258C>T |
p.P753L |
[47] |
INPP5E |
c.1565G>C |
p.Gly552Ala |
[48] |
AHI1 |
c.703dupA |
p.Arg235LysfsTer12 |
[49] |
AHI1 |
c.2212C>T |
p.Arg738Ter |
[49] |
AHI1 |
|
p.Thr304AsnfsX6 |
[50] |
AHI1 |
c.832C>T |
p.Gln278Ter |
[51] |
BBS2 |
c.899A>G, c.1814C>G, c.2107C>T |
|
[52] |
INPP5E |
c.1073C>T, c.1669C>T |
|
[52] |
CACNA1F |
c.3582C>G, c.5704-5C>G |
|
[52] |