RNF111 | Mutation | In-Frame | ENST00000348370.4 |
g.59323502_59323504del
|
c.481_483del
|
p.Val161del
|
damaging
|
CYP2A13 | Mutation | In-Frame | ENST00000330436.3 |
g.41596006_41596007insCCA
|
c.399_400insCAC
|
p.Ala133_Thr134insHis
|
damaging
|
ARHGEF26 | Mutation | In-Frame | ENST00000356448.4 |
g.153840202_153840207del
|
c.421_426del
|
p.Pro141_Pro142del
|
damaging
|
ARRDC1 | Mutation | In-Frame | ENST00000371421.4 |
g.140509174_140509179del
|
c.959_964del
|
p.Glu320_Ala321del
|
damaging
|
GPR88 | Mutation | Missense | ENST00000315033.4 |
g.101004613C>A
|
c.91C>A
|
p.Arg31Ser
|
probably damaging
|
C1orf159 | Mutation | Missense | ENST00000294576.5 |
g.1021387G>C
|
c.316C>G
|
p.Pro106Ala
|
probably damaging
|
VAV3 | Mutation | Missense | ENST00000370056.4 |
g.108185345A>G
|
c.1810T>C
|
p.Ser604Pro
|
benign
|
CELSR2 | Mutation | Missense | ENST00000271332.3 |
g.109814294C>T
|
c.7876C>T
|
p.Arg2626Cys
|
probably damaging
|
WNT2B | Mutation | Missense | ENST00000369684.4 |
g.113059924G>A
|
c.863G>A
|
p.Arg288His
|
benign
|
SETDB1 | Mutation | Missense | ENST00000271640.5 |
g.150935609A>G
|
c.3451A>G
|
p.Met1151Val
|
benign
|
LCE2B | Mutation | Missense | ENST00000368780.3 |
g.152659498C>G
|
c.179C>G
|
p.Ser60Cys
|
probably damaging
|
S100A16 | Mutation | Missense | ENST00000368703.2 |
g.153580513G>C
|
c.115C>G
|
p.Arg39Gly
|
benign
|
CRTC2 | Mutation | Missense | ENST00000368633.1 |
g.153921613A>T
|
c.1652T>A
|
p.Met551Lys
|
benign
|
GBA | Mutation | Missense | ENST00000327247.5 |
g.155204815T>C
|
c.1582A>G
|
p.Ile528Val
|
possibly damaging
|
RAB25 | Mutation | Missense | ENST00000361084.5 |
g.156035875C>T
|
c.217C>T
|
p.Arg73Trp
|
probably damaging
|
NES | Mutation | Missense | ENST00000368223.3 |
g.156642838C>T
|
c.1142G>A
|
p.Arg381His
|
benign
|
INSRR | Mutation | Missense | ENST00000368195.3 |
g.156811545G>A
|
c.3439C>T
|
p.Arg1147Cys
|
probably damaging
|
CASP9 | Mutation | Missense | ENST00000333868.5 |
g.15844776C>A
|
c.247G>T
|
p.Asp83Tyr
|
benign
|
OR6P1 | Mutation | Missense | ENST00000334632.1 |
g.158532668C>T
|
c.727G>A
|
p.Ala243Thr
|
benign
|
IFI16 | Mutation | Missense | ENST00000295809.7 |
g.158986327G>C
|
c.386G>C
|
p.Arg129Thr
|
possibly damaging
|
EPHA2 | Mutation | Missense | ENST00000358432.5 |
g.16460396C>T
|
c.1697G>A
|
p.Arg566His
|
benign
|
MYOC | Mutation | Missense | ENST00000037502.6 |
g.171607843G>C
|
c.624C>G
|
p.Asp208Glu
|
benign
|
SUCO | Mutation | Missense | ENST00000263688.3 |
g.172579359T>C
|
c.3725T>C
|
p.Val1242Ala
|
probably damaging
|
TNR | Mutation | Missense | ENST00000263525.2 |
g.175293533T>A
|
c.3916A>T
|
p.Thr1306Ser
|
benign
|
IVNS1ABP | Mutation | Missense | ENST00000367498.3 |
g.185268931A>C
|
c.1586T>G
|
p.Val529Gly
|
probably damaging
|