ZRANB2 | Mutation | In-Frame | ENST00000254821.6 |
g.71536548_71536550del
|
c.643_645del
|
p.Ser215del
|
damaging
|
CATSPER2 | Mutation | In-Frame | ENST00000321596.5 |
g.43924553_43924554insCCA
|
c.1404_1405insTGG
|
p.Leu468_Asp469insTrp
|
damaging
|
FOXF2 | Mutation | In-Frame | ENST00000259806.1 |
g.1391086_1391087insGGC
|
c.905_906insGCG
|
p.Gly302_Gly303insArg
|
damaging
|
SETDB1 | Mutation | Missense | ENST00000271640.5 |
g.150923536G>T
|
c.2183G>T
|
p.Gly728Val
|
probably damaging
|
PGLYRP4 | Mutation | Missense | ENST00000359650.5 |
g.153317814C>T
|
c.184G>A
|
p.Gly62Arg
|
probably damaging
|
NTRK1 | Mutation | Missense | ENST00000358660.3 |
g.156843527A>G
|
c.953A>G
|
p.Asn318Ser
|
probably damaging
|
PEAR1 | Mutation | Missense | ENST00000292357.7 |
g.156880496T>C
|
c.1912T>C
|
p.Tyr638His
|
benign
|
RSC1A1 | Mutation | Missense | ENST00000345034.1 |
g.15986559T>C
|
c.196T>C
|
p.Ser66Pro
|
benign
|
ARHGAP30 | Mutation | Missense | ENST00000368013.3 |
g.161022098A>T
|
c.996T>A
|
p.Ser332Arg
|
probably damaging
|
F5 | Mutation | Missense | ENST00000367797.3 |
g.169511985A>C
|
c.2343T>G
|
p.Ser781Arg
|
benign
|
PRDX6 | Mutation | Missense | ENST00000340385.5 |
g.173446558G>A
|
c.22G>A
|
p.Gly8Arg
|
possibly damaging
|
RGSL1 | Mutation | Missense | ENST00000294854.8 |
g.182522650G>A
|
c.3104G>A
|
p.Arg1035Gln
|
probably damaging
|
IFFO2 | Mutation | Missense | ENST00000455833.2 |
g.19282714C>G
|
c.113G>C
|
p.Gly38Ala
|
benign
|
IL19 | Mutation | Missense | ENST00000270218.6 |
g.207013261C>T
|
c.277C>T
|
p.His93Tyr
|
probably damaging
|
DNAH14 | Mutation | Missense | ENST00000430092.1 |
g.225239246G>A
|
c.2173G>A
|
p.Ala725Thr
|
probably damaging
|
DNAH14 | Mutation | Missense | ENST00000430092.1 |
g.225380540A>G
|
c.5747A>G
|
p.Tyr1916Cys
|
benign
|
EPHA8 | Mutation | Missense | ENST00000166244.3 |
g.22903017G>A
|
c.467G>A
|
p.Gly156Asp
|
probably damaging
|
SYF2 | Mutation | Missense | ENST00000236273.4 |
g.25551565T>C
|
c.494A>G
|
p.Asn165Ser
|
benign
|
MACF1 | Mutation | Missense | ENST00000317713.7 |
g.39847651G>T
|
c.7489G>T
|
p.Val2497Phe
|
benign
|
HIVEP3 | Mutation | Missense | ENST00000247584.5 |
g.42050411G>A
|
c.58C>T
|
p.Arg20Trp
|
probably damaging
|
SZT2 | Mutation | Missense | ENST00000562955.1 |
g.43900974G>T
|
c.5837G>T
|
p.Arg1946Leu
|
probably damaging
|
DAB1 | Mutation | Missense | ENST00000371234.4 |
g.57480898G>C
|
c.1102C>G
|
p.Pro368Ala
|
probably damaging
|
SEC31B | Mutation | Missense | ENST00000370329.5 |
g.102269198C>T
|
c.274G>A
|
p.Gly92Arg
|
probably damaging
|
FAM178A | Mutation | Missense | ENST00000238961.4 |
g.102684518A>T
|
c.1760A>T
|
p.Asn587Ile
|
possibly damaging
|
GPR26 | Mutation | Missense | ENST00000284674.1 |
g.125426366G>T
|
c.443G>T
|
p.Gly148Val
|
probably damaging
|