PHYKPL | Mutation | In-Frame | ENST00000308158.5 |
g.177651658_177651660del
|
c.484_486del
|
p.Lys162del
|
damaging
|
ZSCAN21 | Mutation | In-Frame | ENST00000292450.4 |
g.99661860_99661862del
|
c.1042_1044del
|
p.Leu348del
|
damaging
|
BCOR | Mutation | In-Frame | ENST00000342274.4 |
g.39933662_39933664del
|
c.935_937del
|
p.Gln312del
|
damaging
|
AGL | Mutation | Missense | ENST00000294724.4 |
g.100346860T>G
|
c.2014T>G
|
p.Ser672Ala
|
benign
|
PIFO | Mutation | Missense | ENST00000369738.4 |
g.111893921T>C
|
c.548T>C
|
p.Val183Ala
|
possibly damaging
|
IVL | Mutation | Missense | ENST00000368764.3 |
g.152882758A>G
|
c.485A>G
|
p.His162Arg
|
possibly damaging
|
NPR1 | Mutation | Missense | ENST00000368680.3 |
g.153651594C>T
|
c.10C>T
|
p.Pro4Ser
|
benign
|
UBAP2L | Mutation | Missense | ENST00000343815.6 |
g.154221895C>T
|
c.1195C>T
|
p.Pro399Ser
|
benign
|
FHAD1 | Mutation | Missense | ENST00000358897.4 |
g.15679377C>T
|
c.2393C>T
|
p.Ser798Leu
|
benign
|
INSRR | Mutation | Missense | ENST00000368195.3 |
g.156816453C>G
|
c.1668G>C
|
p.Gln556His
|
probably damaging
|
AIM1L | Mutation | Missense | ENST00000475866.2 |
g.26672371C>T
|
c.778G>A
|
p.Gly260Arg
|
unknown
|
TRMT1L | Mutation | Missense | ENST00000367506.5 |
g.185125655C>T
|
c.190G>A
|
p.Ala64Thr
|
benign
|
UBR4 | Mutation | Missense | ENST00000375217.2 |
g.19487604G>C
|
c.5213C>G
|
p.Ser1738Cys
|
probably damaging
|
MINOS1 | Mutation | Missense | ENST00000322753.6 |
g.19949995C>G
|
c.140C>G
|
p.Ser47Cys
|
probably damaging
|
IGFN1 | Mutation | Missense | ENST00000335211.4 |
g.201181729G>T
|
c.7708G>T
|
p.Gly2570Trp
|
damaging
|
RNF186 | Mutation | Missense | ENST00000375121.2 |
g.20141292G>T
|
c.303C>A
|
p.Asp101Glu
|
probably damaging
|
VWA5B1 | Mutation | Missense | ENST00000289815.8 |
g.20640961A>C
|
c.439A>C
|
p.Thr147Pro
|
probably damaging
|
C1orf116 | Mutation | Missense | ENST00000359470.5 |
g.207196627G>A
|
c.482C>T
|
p.Pro161Leu
|
benign
|
DNAH14 | Mutation | Missense | ENST00000430092.1 |
g.225239246G>A
|
c.2173G>A
|
p.Ala725Thr
|
probably damaging
|
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228505423C>T
|
c.13820C>T
|
p.Pro4607Leu
|
probably damaging
|
PGBD5 | Mutation | Missense | NM_001258311.1 |
g.230459215C>T
|
c.1531G>A
|
p.Val511Ile
|
possibly damaging
|
C1orf168 | Mutation | Missense | ENST00000343433.6 |
g.57189268C>T
|
c.1967G>A
|
p.Arg656Lys
|
benign
|
TNFRSF9 | Mutation | Missense | ENST00000377507.3 |
g.8000035T>C
|
c.20A>G
|
p.Asn7Ser
|
benign
|
COL24A1 | Mutation | Missense | ENST00000370571.2 |
g.86591297T>G
|
c.722A>C
|
p.Gln241Pro
|
benign
|
CCDC18 | Mutation | Missense | ENST00000557479.1 |
g.93721899A>T
|
c.3704A>T
|
p.Lys1235Ile
|
probably damaging
|