| KIAA0226L | Mutation | In-Frame | ENST00000378787.3 |
g.46936714_46936716del
|
c.943_945del
|
p.Asp315del
|
damaging
|
| SETD1A | Mutation | In-Frame | ENST00000262519.8 |
g.30982874_30982879del
|
c.3192_3197del
|
p.Asp1064_Glu1065del
|
damaging
|
| PSMD7 | Mutation | In-Frame | ENST00000219313.4 |
g.74339620_74339628del
|
c.964_972del
|
p.Glu322X
|
damaging
|
| SLC6A16 | Mutation | In-Frame | ENST00000335875.4 |
g.49796599_49796601del
|
c.1657_1659del
|
p.Phe553del
|
damaging
|
| CTDSP1 | Mutation | In-Frame | ENST00000273062.2 |
g.219268038_219268040dup
|
c.556_558dup
|
p.Gly186dup
|
damaging
|
| CTNNB1 | Mutation | In-Frame | ENST00000349496.5 |
g.41266101_41266358del
|
c.98_242-87del
|
p.Ser33_Asp81delinsTyr
|
damaging
|
| MAP3K4 | Mutation | In-Frame | ENST00000348824.7 |
g.161508869_161508871del
|
c.2706_2708del
|
p.Leu903del
|
damaging
|
| TNRC18 | Mutation | In-Frame | ENST00000399537.4 |
g.5427943_5427944insGGT
|
c.1511_1512insACC
|
p.Thr504_Gly505insPro
|
damaging
|
| RP1L1 | Mutation | In-Frame | ENST00000382483.3 |
g.10467515_10467517del
|
c.4091_4093del
|
p.Gly1364del
|
damaging
|
| RBMXL3 | Mutation | In-Frame | ENST00000424776.3 |
g.114425210_114425455del
|
c.1206_1451del
|
p.Arg404_Gly485del
|
NA
|
| DFFA | Mutation | Missense | ENST00000377036.2 |
g.10532440T>G
|
c.76A>C
|
p.Asn26His
|
probably damaging
|
| KCNA10 | Mutation | Missense | ENST00000369771.2 |
g.111061270G>A
|
c.140C>T
|
p.Ser47Phe
|
possibly damaging
|
| MTOR | Mutation | Missense | ENST00000361445.4 |
g.11303303T>C
|
c.1280A>G
|
p.Glu427Gly
|
possibly damaging
|
| HSD3B2 | Mutation | Missense | ENST00000369416.3 |
g.119962109G>A
|
c.211G>A
|
p.Ala71Thr
|
probably damaging
|
| FLG | Mutation | Missense | ENST00000368799.1 |
g.152275687C>T
|
c.11675G>A
|
p.Arg3892Gln
|
benign
|
| KIRREL | Mutation | Missense | ENST00000359209.6 |
g.158059580T>C
|
c.1244T>C
|
p.Ile415Thr
|
probably damaging
|
| ADAMTS4 | Mutation | Missense | ENST00000367995.3 |
g.161168167C>T
|
c.251G>A
|
p.Arg84His
|
probably damaging
|
| NADK | Mutation | Missense | ENST00000342348.5 |
g.1689870G>A
|
c.101C>T
|
p.Pro34Leu
|
benign
|
| PADI3 | Mutation | Missense | ENST00000375460.3 |
g.17601154C>T
|
c.1180C>T
|
p.Arg394Trp
|
probably damaging
|
| ASTN1 | Mutation | Missense | ENST00000367654.3 |
g.176983967T>G
|
c.1507A>C
|
p.Lys503Gln
|
probably damaging
|
| CEP350 | Mutation | Missense | ENST00000367607.3 |
g.179983594C>G
|
c.2006C>G
|
p.Thr669Ser
|
benign
|
| ASPM | Mutation | Missense | ENST00000367409.4 |
g.197072781G>T
|
c.5600C>A
|
p.Thr1867Lys
|
benign
|
| CNTN2 | Mutation | Missense | ENST00000331830.4 |
g.205035721C>T
|
c.1969C>T
|
p.Arg657Trp
|
probably damaging
|
| YOD1 | Mutation | Missense | ENST00000315927.4 |
g.207224365G>A
|
c.11C>T
|
p.Pro4Leu
|
benign
|
| TRAF3IP3 | Mutation | Missense | ENST00000010338.4 |
g.209933481C>T
|
c.97C>T
|
p.Arg33Cys
|
probably damaging
|