RP11-166B2.1 | Mutation | In-Frame | ENST00000399147.4 |
g.12021341_12021342insTGG
|
c.1082_1083insCCA
|
p.361_361E>DQ
|
damaging
|
PABPN1L | Mutation | In-Frame | ENST00000378358.4 |
g.88932010_88932012del
|
c.418_420del
|
p.Glu140del
|
damaging
|
DIAPH1 | Mutation | In-Frame | ENST00000253811.6 |
g.140953351_140953353del
|
c.2064_2066del
|
p.Pro693del
|
damaging
|
KIF1B | Mutation | Missense | ENST00000263934.6 |
g.10406001C>T
|
c.3649C>T
|
p.Pro1217Ser
|
benign
|
VAV3 | Mutation | Missense | ENST00000370056.4 |
g.108507344G>A
|
c.148C>T
|
p.Leu50Phe
|
probably damaging
|
SYT6 | Mutation | Missense | ENST00000369547.1 |
g.114680458C>T
|
c.475G>A
|
p.Glu159Lys
|
probably damaging
|
MIIP | Mutation | Missense | ENST00000235332.4 |
g.12082333A>G
|
c.296A>G
|
p.Lys99Arg
|
benign
|
DHRS3 | Mutation | Missense | ENST00000376223.2 |
g.12638962C>T
|
c.482G>A
|
p.Arg161His
|
probably damaging
|
HRNR | Mutation | Missense | ENST00000368801.2 |
g.152191577C>T
|
c.2528G>A
|
p.Arg843Gln
|
benign
|
SMG5 | Mutation | Missense | ENST00000361813.5 |
g.156233263C>T
|
c.1954G>A
|
p.Glu652Lys
|
probably damaging
|
CD1B | Mutation | Missense | ENST00000368168.3 |
g.158299670A>T
|
c.579T>A
|
p.Asn193Lys
|
benign
|
OR10K2 | Mutation | Missense | ENST00000314902.2 |
g.158390224C>A
|
c.433G>T
|
p.Val145Leu
|
possibly damaging
|
ATP13A2 | Mutation | Missense | ENST00000326735.8 |
g.17318244C>T
|
c.2236G>A
|
p.Ala746Thr
|
benign
|
PADI2 | Mutation | Missense | ENST00000375486.4 |
g.17402215C>G
|
c.1414G>C
|
p.Val472Leu
|
benign
|
PADI1 | Mutation | Missense | ENST00000375471.4 |
g.17555507C>T
|
c.890C>T
|
p.Thr297Met
|
probably damaging
|
CFH | Mutation | Missense | ENST00000359637.2 |
g.196643017C>T
|
c.275C>T
|
p.Pro92Leu
|
benign
|
HSPG2 | Mutation | Missense | ENST00000374695.3 |
g.22176542G>A
|
c.7438C>T
|
p.R2480W
|
probably damaging
|
EPHX1 | Mutation | Missense | ENST00000272167.5 |
g.226016507C>G
|
c.77C>G
|
p.Thr26Ser
|
benign
|
MAP3K6 | Mutation | Missense | ENST00000357582.2 |
g.27684048T>A
|
c.3101A>T
|
p.Asn1034Ile
|
benign
|
PRDM16 | Mutation | Missense | ENST00000270722.5 |
g.3347605G>A
|
c.3454G>A
|
p.Ala1152Thr
|
benign
|
WDR65 | Mutation | Missense | ENST00000372492.4 |
g.43675482G>A
|
c.1824G>A
|
p.Met608Ile
|
possibly damaging
|
LPHN2 | Mutation | Missense | ENST00000271029.4 |
g.82408784C>T
|
c.529C>T
|
p.Pro177Ser
|
probably damaging
|
SYDE2 | Mutation | Missense | ENST00000341460.5 |
g.85630373G>A
|
c.2921C>T
|
p.Thr974Met
|
probably damaging
|
SVIL | Mutation | Missense | ENST00000355867.4 |
g.29839748A>G
|
c.605T>C
|
p.Ile202Thr
|
benign
|
ANKRD30A | Mutation | Missense | ENST00000361713.1 |
g.37431129C>T
|
c.1136C>T
|
p.Thr379Ile
|
possibly damaging
|