ASPM | Mutation | In-Frame | ENST00000367409.4 |
g.197074046_197074047ins15
|
c.4335_4336insCACAAGTAAAAGCTT
|
p.Thr1446_Tyr3477delinsHisLysX
|
damaging
|
WSCD1 | Mutation | In-Frame | ENST00000317744.5 |
g.6023703_6023726del
|
c.1450_1473del
|
p.Arg484_Glu491del
|
damaging
|
HECW2 | Mutation | In-Frame | ENST00000260983.3 |
g.197184102_197184122del
|
c.1492_1512del
|
p.Asp498_Ser504del
|
damaging
|
WFDC9 | Mutation | In-Frame | ENST00000326000.1 |
g.44237437_44237439del
|
c.102_104del
|
p.Met34del
|
damaging
|
TFR2 | Mutation | In-Frame | ENST00000223051.3 |
g.100225010_100225021del
|
c.1861_1872del
|
p.Ala621_Gln624del
|
damaging
|
SIKE1 | Mutation | Missense | ENST00000060969.5 |
g.115316919C>A
|
c.597G>T
|
p.Met199Ile
|
benign
|
TRIM45 | Mutation | Missense | ENST00000256649.4 |
g.117658296C>G
|
c.1368G>C
|
p.Met456Ile
|
benign
|
ADAM30 | Mutation | Missense | ENST00000369400.1 |
g.120437395C>T
|
c.1565G>A
|
p.Cys522Tyr
|
probably damaging
|
TCHH | Mutation | Missense | ENST00000368804.1 |
g.152084726C>G
|
c.967G>C
|
p.Glu323Gln
|
benign
|
IVL | Mutation | Missense | ENST00000368764.3 |
g.152883061T>C
|
c.788T>C
|
p.Leu263Pro
|
probably damaging
|
KCNN3 | Mutation | Missense | ENST00000271915.4 |
g.154842202T>G
|
c.239A>C
|
p.Gln80Pro
|
benign
|
GON4L | Mutation | Missense | ENST00000271883.5 |
g.155735240G>A
|
c.4024C>T
|
p.Arg1342Cys
|
benign
|
TMEM79 | Mutation | Missense | ENST00000295694.5 |
g.156255135G>A
|
c.118G>A
|
p.Glu40Lys
|
possibly damaging
|
BCAN | Mutation | Missense | ENST00000329117.5 |
g.156626789T>C
|
c.2110T>C
|
p.Ser704Pro
|
benign
|
FHAD1 | Mutation | Missense | ENST00000358897.4 |
g.15675578A>G
|
c.2321A>G
|
p.Lys774Arg
|
benign
|
OR6K2 | Mutation | Missense | ENST00000359610.2 |
g.158670216G>T
|
c.227C>A
|
p.Ala76Asp
|
possibly damaging
|
LAMC2 | Mutation | Missense | ENST00000264144.4 |
g.183204775C>G
|
c.2366C>G
|
p.Ala789Gly
|
possibly damaging
|
SMG7 | Mutation | Missense | ENST00000347615.2 |
g.183498585A>G
|
c.760A>G
|
p.Ile254Val
|
benign
|
RGS18 | Mutation | Missense | ENST00000367460.3 |
g.192128438G>A
|
c.208G>A
|
p.Ala70Thr
|
benign
|
LGR6 | Mutation | Missense | ENST00000367278.3 |
g.202266680G>A
|
c.761G>A
|
p.Arg254Gln
|
possibly damaging
|
KIF17 | Mutation | Missense | ENST00000247986.2 |
g.21030995C>G
|
c.1068G>C
|
p.Glu356Asp
|
probably damaging
|
WNT4 | Mutation | Missense | ENST00000290167.6 |
g.22456307C>T
|
c.115G>A
|
p.Glu39Lys
|
benign
|
DNAH14 | Mutation | Missense | ENST00000430092.1 |
g.225534194T>C
|
c.10855T>C
|
p.Cys3619Arg
|
probably damaging
|
TMEM63A | Mutation | Missense | ENST00000366835.3 |
g.226044654A>G
|
c.1441T>C
|
p.Ser481Pro
|
benign
|
TRIM17 | Mutation | Missense | ENST00000295033.3 |
g.228598783A>G
|
c.620T>C
|
p.Leu207Pro
|
probably damaging
|