NUFIP1 | Mutation | In-Frame | ENST00000379161.4 |
g.45517711_45517722del
|
c.1226_1237del
|
p.Lys409_Val412del
|
damaging
|
VSX2 | Mutation | In-Frame | ENST00000261980.2 |
g.74727548_74727549insGAG
|
c.1012_1013insGAG
|
p.Pro337_Glu338insGly
|
damaging
|
USP31 | Mutation | In-Frame | ENST00000219689.7 |
g.23080146_23080151del
|
c.3275_3280del
|
p.Pro1092_Ala1093del
|
damaging
|
CREBBP | Mutation | In-Frame | ENST00000262367.5 |
g.3779071_3779079del
|
c.5969_5977del
|
p.Thr1990_Gly1992del
|
damaging
|
NANOS3 | Mutation | In-Frame | ENST00000339133.5 |
g.13988559_13988560insGAG
|
c.497_498insGAG
|
p.Arg166dup
|
damaging
|
DNAJC28 | Mutation | In-Frame | ENST00000314399.3 |
g.34860534_34860602del
|
c.1099_1167del
|
p.Pro367_Phe388delinsCysLeuLeuSer
|
damaging
|
GRIK2 | Mutation | In-Frame | ENST00000318991.6 |
g.102124573_102124575del
|
c.617_619del
|
p.Ala206del
|
damaging
|
HOXA3 | Mutation | In-Frame | ENST00000317201.2 |
g.27150179_27150181del
|
c.79_81del
|
p.Asn27del
|
damaging
|
UNC5D | Mutation | In-Frame | ENST00000404895.2 |
g.35631863_35631868del
|
c.2525_2530del
|
p.Phe842_Ala844delinsSer
|
damaging
|
RP11-706O15.1 | Mutation | In-Frame | ENST00000425492.2 |
g.3736507_3736509delCTT
|
c.204_206del
|
p.68_69RR>R
|
damaging
|
RNPC3 | Mutation | Missense | ENST00000423855.2 |
g.104076367A>G
|
c.247A>G
|
p.Thr83Ala
|
benign
|
FAM19A3 | Mutation | Missense | ENST00000369630.3 |
g.113266684G>A
|
c.383G>A
|
p.Arg128Gln
|
benign
|
MAGI3 | Mutation | Missense | ENST00000307546.9 |
g.114128215G>T
|
c.760G>T
|
p.Ala254Ser
|
benign
|
TRIM45 | Mutation | Missense | ENST00000256649.4 |
g.117663633A>T
|
c.191T>A
|
p.Ile64Asn
|
benign
|
C1orf167 | Mutation | Missense | ENST00000433342.1 |
g.11836524G>A
|
c.2240G>A
|
p.R747H
|
benign
|
PLOD1 | Mutation | Missense | ENST00000196061.4 |
g.12017933G>A
|
c.776G>A
|
p.Arg259His
|
benign
|
HNRNPCL1 | Mutation | Missense | ENST00000317869.6 |
g.12907689T>A
|
c.454A>T
|
p.Thr152Ser
|
benign
|
FMO5 | Mutation | Missense | ENST00000254090.4 |
g.146672802A>T
|
c.1115T>A
|
p.Ile372Asn
|
probably damaging
|
GJA8 | Mutation | Missense | ENST00000240986.4 |
g.147380104G>A
|
c.22G>A
|
p.Gly8Arg
|
probably damaging
|
PRPF3 | Mutation | Missense | ENST00000324862.6 |
g.150305538C>T
|
c.596C>T
|
p.Ala199Val
|
possibly damaging
|
TCHH | Mutation | Missense | ENST00000368804.1 |
g.152080928G>T
|
c.4765C>A
|
p.Arg1589Ser
|
possibly damaging
|
FLG | Mutation | Missense | ENST00000368799.1 |
g.152282882C>A
|
c.4480G>T
|
p.Gly1494Trp
|
probably damaging
|
ETV3 | Mutation | Missense | ENST00000368192.4 |
g.157094812T>A
|
c.1360A>T
|
p.Arg454Trp
|
possibly damaging
|
SLAMF8 | Mutation | Missense | ENST00000289707.5 |
g.159802824C>G
|
c.526C>G
|
p.Pro176Ala
|
benign
|
TNR | Mutation | Missense | ENST00000263525.2 |
g.175331892T>C
|
c.2761A>G
|
p.Thr921Ala
|
benign
|