ENAM delTTTCC

PTPLA ins236

RPE65 AAGAdel

VLDLR c.1713delC

ITGA10 c.2083C>T

PDE6B c.2404-6del

IQCB1 c.952-953insC

NPHP4 80bp del

COMMD1 39.7kb del

RPGRIP1 44bp ins

SLC37A2 c.1332C>T

SLC3A1 c.586C>T

SOD1 c.52A>T

FAM83H c.977delC

PKP1 c.202+1G>C

F9 c.731G>A

F7 c.407G>A

ABCB4 c.1583_4insG

PFKM c.2228G>A

PNPLA1 indel

SLC4A3 insC

TTC8 c.669delA

HSF4 delC

HSF4 insC

KRT10 G>T

CAT c.979G>A

SLC27A4 c.1250G>A

CUBN c.786delC

CUBN c.8392delC

L2HGDH T>C;C>T

ITGB2 c.350T>A

ADAMTS17 G>A

GUSB c.559G>A

BEST1 c.73C>T

BEST1 c.482G>A

BEST1 c1388del

BEST1 c.1466G>T

ADAMTSL2 c.660C>T

BIN1 IVS10-2A>G

CLCN1 C>T

MTM1 c.465C>A

HCRTR2 SINE ins

HCRTR2 G>A

ARSG c.296G>A

ATF2 c.152T>G

COL4A5 C>T

P2RY12 3bp del

PDP1 c.754C>T

LHX3 7bp del

CNGB1 indel

SAG c.1216T>C

STK38L SINE ins

CCDC39 C>T

ADAMTS10 c.1441G>A

AGXT c.996G>A

PKLR c.799C>T

PDE6B G>A

PDE6 c.1741delA

C17H2orf71 insC

RAG1 c.2893G>T

COL11A2 c.143G>C

CAPN1 c.344G>A

VPS13B 4bp del

SLC2A9 c.616G>T

T C189G

MSTN c.939,940del

TYRP1

MC1R c.916C>T

MC1R

MLPH c.-22G>A

FGF5 c.284G>T