RAB44 | Mutation | In-Frame | NM_001257357.1 |
g.36689831_36689832insGGTGCA
|
c.1921_1922insGTGCAG
|
p.Ala640_Val641insGlyAla
|
damaging
|
TRMT13 | Mutation | Missense | ENST00000370141.2 |
g.100598759G>T
|
c.35G>T
|
p.Gly12Val
|
benign
|
GNAT2 | Mutation | Missense | ENST00000351050.3 |
g.110146010A>G
|
c.1031T>C
|
p.Ile344Thr
|
probably damaging
|
DDX20 | Mutation | Missense | ENST00000369702.4 |
g.112309199A>T
|
c.2153A>T
|
p.Gln718Leu
|
benign
|
SCNN1D | Mutation | Missense | ENST00000379101.4 |
g.1216859C>T
|
c.146C>T
|
p.Thr49Ile
|
unknown
|
VPS45 | Mutation | Missense | ENST00000369130.3 |
g.150040693A>G
|
c.100A>G
|
p.Ile34Val
|
benign
|
CCDC19 | Mutation | Missense | ENST00000368099.4 |
g.159854305G>A
|
c.818C>T
|
p.Ser273Leu
|
benign
|
PADI1 | Mutation | Missense | ENST00000375471.4 |
g.17567192C>G
|
c.1695C>G
|
p.Ile565Met
|
probably damaging
|
SMG7 | Mutation | Missense | ENST00000507469.1 |
g.183516381C>G
|
c.2748C>G
|
p.Ser916Arg
|
damaging
|
IGFN1 | Mutation | Missense | ENST00000335211.4 |
g.201178199G>C
|
c.4178G>C
|
p.Arg1393Thr
|
unknown
|
EIF2D | Mutation | Missense | ENST00000271764.2 |
g.206767021A>C
|
c.1631T>G
|
p.Leu544Arg
|
benign
|
TP53 | Mutation | Missense | ENST00000269305.4 |
g.7578475G>A
|
c.455C>T
|
p.Pro152Leu
|
probably damaging
|
KCNK1 | Mutation | Missense | ENST00000366621.3 |
g.233807068G>A
|
c.803G>A
|
p.Cys268Tyr
|
probably damaging
|
ASAP3 | Mutation | Missense | ENST00000336689.3 |
g.23759654C>T
|
c.2239G>A
|
p.Glu747Lys
|
benign
|
CNR2 | Mutation | Missense | ENST00000374472.4 |
g.24202064T>C
|
c.44A>G
|
p.Asp15Gly
|
benign
|
ST3GAL3 | Mutation | Missense | ENST00000262915.3 |
g.44202013C>T
|
c.80C>T
|
p.Ala27Val
|
probably damaging
|
PTCH2 | Mutation | Missense | ENST00000372192.3 |
g.45292425G>A
|
c.2711C>T
|
p.Pro904Leu
|
probably damaging
|
MAST2 | Mutation | Missense | ENST00000361297.2 |
g.46500798C>G
|
c.4457C>G
|
p.Ala1486Gly
|
possibly damaging
|
NRD1 | Mutation | Missense | ENST00000354831.7 |
g.52303211T>C
|
c.712A>G
|
p.Thr238Ala
|
benign
|
EVI5 | Mutation | Missense | ENST00000370331.1 |
g.93202045G>A
|
c.191C>T
|
p.Thr64Ile
|
possibly damaging
|
CALHM1 | Mutation | Missense | ENST00000329905.5 |
g.105218334C>T
|
c.175G>A
|
p.Ala59Thr
|
benign
|
NEURL1 | Mutation | Missense | ENST00000369780.4 |
g.105331513C>T
|
c.583C>T
|
p.Arg195Cys
|
probably damaging
|
MALRD1 | Mutation | Missense | ENST00000454679.2 |
g.19493250C>G
|
c.6C>G
|
p.F2L
|
NA
|
KIAA1217 | Mutation | Missense | ENST00000376454.3 |
g.24790355A>G
|
c.1882A>G
|
p.Thr628Ala
|
benign
|
ADAMTS14 | Mutation | Missense | ENST00000373207.1 |
g.72511968C>A
|
c.2714C>A
|
p.Pro905Gln
|
benign
|