SLC38A2 | Mutation | In-Frame | ENST00000256689.5 |
g.46764574_46764576del
|
c.181_183del
|
p.Lys61del
|
damaging
|
TSNAXIP1 | Mutation | In-Frame | ENST00000388833.3 |
g.67859917_67859919del
|
c.920_922del
|
p.Phe307del
|
damaging
|
TNFSF9 | Mutation | In-Frame | ENST00000245817.3 |
g.6531236_6531265del
|
c.189_218del
|
p.Ser64_Gly73del
|
damaging
|
AK9 | Mutation | In-Frame | ENST00000285397.5 |
g.109980446_109980454del
|
c.607_615del
|
p.Glu203_Glu205del
|
damaging
|
DPH5 | Mutation | Missense | ENST00000342173.7 |
g.101458207C>T
|
c.620G>A
|
p.Arg207Gln
|
benign
|
CELSR2 | Mutation | Missense | ENST00000271332.3 |
g.109816144C>T
|
c.8596C>T
|
p.Arg2866Trp
|
probably damaging
|
KCNC4 | Mutation | Missense | ENST00000369787.3 |
g.110768699C>G
|
c.1718C>G
|
p.Ala573Gly
|
benign
|
IVL | Mutation | Missense | ENST00000368764.3 |
g.152882758A>G
|
c.485A>G
|
p.His162Arg
|
possibly damaging
|
ATP8B2 | Mutation | Missense | ENST00000368489.3 |
g.154321416C>A
|
c.3494C>A
|
p.Ser1165Tyr
|
probably damaging
|
C1orf195 | Mutation | Missense | ENST00000376005.3 |
g.15495061T>G
|
c.311A>C
|
p.Gln104Pro
|
benign
|
CD1A | Mutation | Missense | ENST00000289429.5 |
g.158225962T>C
|
c.494T>C
|
p.Leu165Pro
|
probably damaging
|
OR10Z1 | Mutation | Missense | ENST00000361284.1 |
g.158576989G>A
|
c.761G>A
|
p.Cys254Tyr
|
probably damaging
|
COPA | Mutation | Missense | ENST00000241704.7 |
g.160262284T>G
|
c.2950A>C
|
p.Asn984His
|
benign
|
ITLN1 | Mutation | Missense | ENST00000326245.3 |
g.160850417C>A
|
c.646G>T
|
p.Ala216Ser
|
possibly damaging
|
EIF4G3 | Mutation | Missense | ENST00000264211.8 |
g.21268083C>T
|
c.1396G>A
|
p.Ala466Thr
|
benign
|
CAPN9 | Mutation | Missense | ENST00000271971.2 |
g.230883297G>A
|
c.55G>A
|
p.Ala19Thr
|
possibly damaging
|
LYST | Mutation | Missense | ENST00000389793.2 |
g.235973403T>G
|
c.715A>C
|
p.Ser239Arg
|
benign
|
PANK4 | Mutation | Missense | ENST00000378466.3 |
g.2452561A>T
|
c.401T>A
|
p.Ile134Asn
|
probably damaging
|
OR2T4 | Mutation | Missense | ENST00000366475.1 |
g.248524992A>G
|
c.110A>G
|
p.Asn37Ser
|
benign
|
OR8G2 | Mutation | Missense | NM_001007249.1 |
g.124095422A>T
|
c.25A>T
|
p.Thr9Ser
|
benign
|
COL16A1 | Mutation | Missense | ENST00000373668.3 |
g.32150444T>C
|
c.2030A>G
|
p.Glu677Gly
|
possibly damaging
|
OSCP1 | Mutation | Missense | ENST00000315643.9 |
g.36904361T>C
|
c.293A>G
|
p.Asp98Gly
|
possibly damaging
|
HIVEP3 | Mutation | Missense | ENST00000247584.5 |
g.42049603C>T
|
c.866G>A
|
p.Ser289Asn
|
benign
|
LRRC7 | Mutation | Missense | ENST00000035383.5 |
g.70504295G>A
|
c.2674G>A
|
p.Val892Ile
|
benign
|
BCL10 | Mutation | Missense | ENST00000370580.1 |
g.85733414C>T
|
c.598G>A
|
p.Ala200Thr
|
probably damaging
|