CTNNB1 | Mutation | In-Frame | ENST00000349496.5 |
g.41265568_41266630del
|
c.9_427del
|
p.Ala5_Gln143del
|
damaging
|
EME2 | Mutation | In-Frame | ENST00000568449.1 |
g.1825822_1825824delCTC
|
c.806_808del
|
p.Ser269del
|
damaging
|
SLC26A11 | Mutation | In-Frame | ENST00000361193.3 |
g.78196560_78196562del
|
c.341_343del
|
p.Phe114del
|
damaging
|
BPI | Mutation | In-Frame | ENST00000262865.4 |
g.36936015_36936016insCAA
|
c.189_190insCAA
|
p.Ile63_Lys64insGln
|
damaging
|
GTF3C5 | Mutation | In-Frame | ENST00000372097.5 |
g.135933304_135933306del
|
c.1497_1499del
|
p.Glu499del
|
damaging
|
CHIA | Mutation | Missense | ENST00000343320.6 |
g.111857987T>C
|
c.410T>C
|
p.Phe137Ser
|
probably damaging
|
AP4B1 | Mutation | Missense | ENST00000256658.4 |
g.114442837T>C
|
c.803A>G
|
p.His268Arg
|
benign
|
NRAS | Mutation | Missense | ENST00000369535.4 |
g.115256529T>A
|
c.182A>T
|
p.Gln61Leu
|
probably damaging
|
DVL1 | Mutation | Missense | ENST00000378888.5 |
g.1284367G>A
|
c.79C>T
|
p.Arg27Cys
|
probably damaging
|
HNRNPCL1 | Mutation | Missense | ENST00000317869.6 |
g.12907794G>A
|
c.349C>T
|
p.Arg117Trp
|
probably damaging
|
SEMA6C | Mutation | Missense | ENST00000341697.3 |
g.151105616G>A
|
c.2137C>T
|
p.Arg713Cys
|
probably damaging
|
PSMB4 | Mutation | Missense | ENST00000290541.6 |
g.151372091G>A
|
c.28G>A
|
p.Gly10Arg
|
benign
|
FLG | Mutation | Missense | ENST00000368799.1 |
g.152275598A>T
|
c.11764T>A
|
p.Ser3922Thr
|
possibly damaging
|
KAZN | Mutation | Missense | ENST00000376030.2 |
g.15386706G>C
|
c.955G>C
|
p.Val319Leu
|
benign
|
INSRR | Mutation | Missense | ENST00000368195.3 |
g.156823861G>A
|
c.320C>T
|
p.Thr107Met
|
possibly damaging
|
KCNT2 | Mutation | Missense | ENST00000294725.9 |
g.196295883T>G
|
c.2240A>C
|
p.Lys747Thr
|
benign
|
KDM5B | Mutation | Missense | ENST00000367265.3 |
g.202698963A>G
|
c.4369T>C
|
p.Tyr1457His
|
benign
|
C1orf65 | Mutation | Missense | ENST00000366875.3 |
g.223566909T>C
|
c.92T>C
|
p.Leu31Pro
|
benign
|
TAF5L | Mutation | Missense | ENST00000258281.2 |
g.229737995G>A
|
c.919C>T
|
p.His307Tyr
|
probably damaging
|
RYR2 | Mutation | Missense | ENST00000366574.2 |
g.237660048G>C
|
c.2199G>C
|
p.Trp733Cys
|
probably damaging
|
KIF26B | Mutation | Missense | ENST00000407071.2 |
g.245772763C>T
|
c.1847C>T
|
p.Thr616Met
|
probably damaging
|
BAI2 | Mutation | Missense | ENST00000257070.4 |
g.32203866G>A
|
c.2707C>T
|
p.His903Tyr
|
probably damaging
|
KIAA1522 | Mutation | Missense | ENST00000373480.1 |
g.33236360G>A
|
c.1403G>A
|
p.Arg468His
|
probably damaging
|
MUTYH | Mutation | Missense | ENST00000372098.3 |
g.45797519G>C
|
c.991C>G
|
p.Pro331Ala (Splice)
|
benign
|
PLEKHG5 | Mutation | Missense | ENST00000400915.3 |
g.6556600G>C
|
c.34C>G
|
p.Leu12Val
|
possibly damaging
|