PRG4 | Mutation | In-Frame | ENST00000445192.2 |
g.186273966_186273971del
|
c.510_515del
|
p.Ser176_Ser177del
|
damaging
|
GBF1 | Mutation | In-Frame | ENST00000369983.3 |
g.104118330_104118332del
|
c.855_857del
|
p.Val286del
|
damaging
|
MKI67 | Mutation | In-Frame | ENST00000368654.3 |
g.129905754_129905755insGCTGGG
|
c.4349_4350insCCCAGC
|
p.Gly1450_Ser1451insProAla
|
damaging
|
TMEM200C | Mutation | In-Frame | ENST00000383490.2 |
g.5891376_5891417del
|
c.646_687del
|
p.Lys216_Ala229del
|
damaging
|
ARID1A | Mutation | In-Frame | ENST00000324856.7 |
g.27023020_27023022dup
|
c.126_128dup
|
p.Ala45dup
|
damaging
|
KCNA10 | Mutation | Missense | ENST00000369771.2 |
g.111059991C>A
|
c.1419G>T
|
p.Lys473Asn
|
possibly damaging
|
TTLL10 | Mutation | Missense | ENST00000379289.1 |
g.1132937G>C
|
c.1732G>C
|
p.Gly578Arg
|
benign
|
PTCHD2 | Mutation | Missense | ENST00000294484.6 |
g.11589913C>A
|
c.2999C>A
|
p.Ala1000Glu
|
probably damaging
|
CGN | Mutation | Missense | ENST00000271636.7 |
g.151497337G>T
|
c.1589G>T
|
p.Arg530Leu
|
probably damaging
|
TUFT1 | Mutation | Missense | ENST00000368849.3 |
g.151537026G>T
|
c.350G>T
|
p.Arg117Leu
|
probably damaging
|
FLG | Mutation | Missense | ENST00000368799.1 |
g.152286256G>T
|
c.1106C>A
|
p.Thr369Asn
|
probably damaging
|
TRIM46 | Mutation | Missense | ENST00000334634.4 |
g.155149501C>A
|
c.763C>A
|
p.His255Asn
|
probably damaging
|
IQGAP3 | Mutation | Missense | ENST00000361170.2 |
g.156536317C>A
|
c.147G>T
|
p.Lys49Asn
|
benign
|
TTC24 | Mutation | Missense | ENST00000368236.3 |
g.156555756C>T
|
c.1586C>T
|
p.Ala529Val
|
benign
|
INSRR | Mutation | Missense | ENST00000368195.3 |
g.156810796G>T
|
c.3763C>A
|
p.Arg1255Ser
|
benign
|
KIRREL | Mutation | Missense | ENST00000359209.6 |
g.158045942C>T
|
c.92C>T
|
p.Thr31Met
|
possibly damaging
|
KIRREL | Mutation | Missense | ENST00000359209.6 |
g.158063206G>A
|
c.1549G>A
|
p.Val517Ile
|
benign
|
CD1C | Mutation | Missense | ENST00000368170.3 |
g.158262151G>T
|
c.606G>T
|
p.Arg202Ser
|
probably damaging
|
CD1E | Mutation | Missense | ENST00000368155.3 |
g.158324221G>A
|
c.113G>A
|
p.Arg38His
|
benign
|
OR6Y1 | Mutation | Missense | ENST00000302617.3 |
g.158517145T>A
|
c.751A>T
|
p.Thr251Ser
|
benign
|
OR6Y1 | Mutation | Missense | ENST00000302617.3 |
g.158517490G>A
|
c.406C>T
|
p.Arg136Cys
|
probably damaging
|
OR6P1 | Mutation | Missense | ENST00000334632.1 |
g.158532502T>G
|
c.893A>C
|
p.Lys298Thr
|
probably damaging
|
OR10X1 | Mutation | Missense | ENST00000368150.1 |
g.158549273G>T
|
c.417C>A
|
p.Phe139Leu
|
probably damaging
|
SPTA1 | Mutation | Missense | ENST00000368147.4 |
g.158612244A>T
|
c.4694T>A
|
p.Leu1565Gln
|
probably damaging
|
SPTA1 | Mutation | Missense | ENST00000368147.4 |
g.158612618C>G
|
c.4591G>C
|
p.Ala1531Pro
|
benign
|