DFFB | Mutation | In-Frame | ENST00000338895.3 |
g.3782500_3782502del
|
c.366_368del
|
p.Leu123del
|
damaging
|
TP53 | Mutation | In-Frame | ENST00000269305.4 |
g.7578269_7578280del
|
c.569_580del
|
p.Pro190_His193del
|
damaging
|
PLA2R1 | Mutation | In-Frame | ENST00000283243.7 |
g.160832734_160832736del
|
c.2438_2440del
|
p.Asp813del (Splice)
|
damaging
|
KRTAP6-3 | Mutation | In-Frame | NM_181605.3 |
g.31964928_31964948del
|
c.164_184del
|
p.Asp55_Leu61del
|
damaging
|
CSRNP1 | Mutation | In-Frame | ENST00000273153.5 |
g.39185165_39185197del
|
c.1119_1151del
|
p.His374_Pro384del
|
damaging
|
OR6B1 | Mutation | In-Frame | ENST00000408922.2 |
g.143701933_143701935del
|
c.844_846del
|
p.Ser282del
|
damaging
|
AGL | Mutation | Missense | ENST00000294724.4 |
g.100366232C>A
|
c.3403C>A
|
p.Leu1135Ile
|
probably damaging
|
EXOSC10 | Mutation | Missense | ENST00000304457.7 |
g.11158143T>C
|
c.182A>G
|
p.Asp61Gly
|
probably damaging
|
BCAS2 | Mutation | Missense | ENST00000369541.3 |
g.115124190G>A
|
c.23C>T
|
p.Ala8Val
|
probably damaging
|
IQGAP3 | Mutation | Missense | ENST00000361170.2 |
g.156513961G>A
|
c.2443C>T
|
p.His815Tyr
|
benign
|
OR6K3 | Mutation | Missense | ENST00000368145.1 |
g.158687707A>T
|
c.199T>A
|
p.Ser67Thr
|
probably damaging
|
KIAA1751 | Mutation | Missense | NM_001080484.1 |
g.1905486G>A
|
c.652C>T
|
p.Arg218Trp
|
probably damaging
|
IGSF8 | Mutation | Missense | ENST00000314485.7 |
g.160068249C>G
|
c.14G>C
|
p.Arg5Thr
|
benign
|
C1orf64 | Mutation | Missense | ENST00000329454.2 |
g.16332749G>A
|
c.418G>A
|
p.Val140Met
|
possibly damaging
|
PADI3 | Mutation | Missense | ENST00000375460.3 |
g.17597417G>A
|
c.875G>A
|
p.Arg292Gln
|
probably damaging
|
CEP350 | Mutation | Missense | ENST00000367607.3 |
g.179983580G>T
|
c.1992G>T
|
p.Leu664Phe
|
probably damaging
|
QSOX1 | Mutation | Missense | ENST00000367600.5 |
g.180124188C>A
|
c.146C>A
|
p.Thr49Lys
|
possibly damaging
|
CR2 | Mutation | Missense | ENST00000367058.3 |
g.207653332C>T
|
c.2945C>T
|
p.Ala982Val
|
benign
|
MUL1 | Mutation | Missense | ENST00000264198.3 |
g.20827269C>T
|
c.973G>A
|
p.Glu325Lys
|
benign
|
RAB3GAP2 | Mutation | Missense | ENST00000358951.2 |
g.220330767C>G
|
c.3400G>C
|
p.Val1134Leu
|
benign
|
HSPG2 | Mutation | Missense | ENST00000374695.3 |
g.22163333C>A
|
c.10317G>T
|
p.Q3439H
|
benign
|
MIA3 | Mutation | Missense | ENST00000344441.6 |
g.222801037G>A
|
c.475G>A
|
p.Glu159Lys
|
probably damaging
|
TLR5 | Mutation | Missense | ENST00000342210.6 |
g.223284519C>T
|
c.1855G>A
|
p.Val619Ile
|
benign
|
DNAH14 | Mutation | Missense | ENST00000430092.1 |
g.225334903C>T
|
c.4841C>T
|
p.Ala1614Val
|
probably damaging
|
LBR | Mutation | Missense | ENST00000272163.4 |
g.225600276C>T
|
c.964G>A
|
p.Val322Met
|
benign
|