DNAH17 | Mutation | In-Frame | NM_173628.3 |
g.76506522_76506527del
|
c.4175_4180del
|
p.Ser1392_Glu1394delinsLys
|
damaging
|
PTPN23 | Mutation | In-Frame | ENST00000265562.4 |
g.47452858_47452859insTCT
|
c.3570_3571insTCT
|
p.Ala1190_Leu1191insSer
|
damaging
|
PABPC4L | Mutation | In-Frame | ENST00000529122.2 |
g.135122031_135122054del
|
c.295_318del
|
p.Ile99_Arg106del
|
damaging
|
HFE | Mutation | In-Frame | ENST00000309234.6 |
g.26092987_26092989del
|
c.691_693del
|
p.Tyr231del
|
damaging
|
GAL3ST4 | Mutation | In-Frame | ENST00000360039.4 |
g.99758490_99758501del
|
c.511_522del
|
p.Tyr171_Ser174del
|
damaging
|
PEX14 | Mutation | Missense | ENST00000356607.4 |
g.10687391T>G
|
c.648T>G
|
p.Ile216Met
|
probably damaging
|
C1orf167 | Mutation | Missense | ENST00000433342.1 |
g.11844522G>C
|
c.3369G>C
|
p.Q1123H
|
benign
|
VPS13D | Mutation | Missense | ENST00000356315.4 |
g.12342810A>T
|
c.4651A>T
|
p.Asn1551Tyr
|
possibly damaging
|
TAS1R3 | Mutation | Missense | ENST00000339381.5 |
g.1267155T>C
|
c.329T>C
|
p.Met110Thr
|
probably damaging
|
GJA8 | Mutation | Missense | ENST00000240986.4 |
g.147380433G>C
|
c.351G>C
|
p.Gln117His
|
probably damaging
|
RUSC1 | Mutation | Missense | ENST00000368352.5 |
g.155291839A>T
|
c.275A>T
|
p.Glu92Val
|
probably damaging
|
TOR1AIP2 | Mutation | Missense | ENST00000367612.3 |
g.179816728A>C
|
c.597T>G
|
p.Ile199Met
|
benign
|
AIM1L | Mutation | Missense | ENST00000475866.2 |
g.26672776G>A
|
c.373C>T
|
p.Arg125Cys
|
unknown
|
PTPRC | Mutation | Missense | ENST00000367376.2 |
g.198704298C>T
|
c.2314C>T
|
p.Arg772Trp
|
probably damaging
|
PTPRC | Mutation | Missense | ENST00000367376.2 |
g.198711052C>A
|
c.2452C>A
|
p.Pro818Thr
|
probably damaging
|
ZNF281 | Mutation | Missense | ENST00000294740.3 |
g.200377768T>A
|
c.1066A>T
|
p.Arg356Trp
|
probably damaging
|
IPO9 | Mutation | Missense | ENST00000361565.4 |
g.201816692A>G
|
c.238A>G
|
p.Ile80Val
|
benign
|
ETNK2 | Mutation | Missense | ENST00000367202.4 |
g.204101331G>A
|
c.1142C>T
|
p.Ala381Val
|
possibly damaging
|
CR2 | Mutation | Missense | ENST00000367057.3 |
g.207641953G>T
|
c.527G>T
|
p.Gly176Val
|
probably damaging
|
JMJD4 | Mutation | Missense | ENST00000366758.3 |
g.227923054A>T
|
c.59T>A
|
p.Leu20His
|
benign
|
SNAP47 | Mutation | Missense | ENST00000315781.5 |
g.227935610A>G
|
c.308A>G
|
p.Lys103Arg
|
probably damaging
|
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228494090C>T
|
c.11677C>T
|
p.Arg3893Trp
|
probably damaging
|
KIF26B | Mutation | Missense | ENST00000407071.2 |
g.245772666A>C
|
c.1750A>C
|
p.Lys584Gln
|
probably damaging
|
OR2T4 | Mutation | Missense | ENST00000366475.1 |
g.248525381C>G
|
c.499C>G
|
p.Leu167Val
|
probably damaging
|
BAI2 | Mutation | Missense | ENST00000257070.4 |
g.32205768C>G
|
c.2001G>C
|
p.Gln667His
|
possibly damaging
|