SALL2 | Mutation | In-Frame | ENST00000327430.3 |
g.21991334_21991335insGGT
|
c.2527_2528insACC
|
p.Pro842_Pro843insHis
|
damaging
|
PHF23 | Mutation | In-Frame | ENST00000320316.3 |
g.7139476_7139484del
|
c.762_770del
|
p.Glu259_Glu261del
|
damaging
|
CENPM | Mutation | In-Frame | ENST00000215980.5 |
g.42343029_42343031del
|
c.50_52del
|
p.Thr17del
|
damaging
|
C3orf62 | Mutation | In-Frame | ENST00000343010.3 |
g.49314137_49314139del
|
c.167_169del
|
p.Phe56del
|
damaging
|
FAM189A2 | Mutation | In-Frame | ENST00000257515.8 |
g.72003322_72003324del
|
c.1105_1107del
|
p.Glu369del
|
damaging
|
COL11A1 | Mutation | Missense | ENST00000370096.3 |
g.103488388T>A
|
c.1155A>T
|
p.Glu385Asp
|
benign
|
LRIG2 | Mutation | Missense | ENST00000361127.5 |
g.113657444A>G
|
c.2476A>G
|
p.Ile826Val
|
benign
|
IVL | Mutation | Missense | ENST00000368764.3 |
g.152883501G>A
|
c.1228G>A
|
p.Glu410Lys
|
benign
|
ADAR | Mutation | Missense | ENST00000368474.4 |
g.154573823A>T
|
c.1295T>A
|
p.Leu432Gln
|
possibly damaging
|
GBA | Mutation | Missense | ENST00000327247.5 |
g.155205599T>A
|
c.1261A>T
|
p.Asn421Tyr
|
probably damaging
|
RAB25 | Mutation | Missense | ENST00000361084.5 |
g.156038092G>A
|
c.271G>A
|
p.Val91Met
|
probably damaging
|
ARHGEF11 | Mutation | Missense | ENST00000361409.2 |
g.156950243C>T
|
c.259G>A
|
p.Asp87Asn
|
probably damaging
|
CD84 | Mutation | Missense | ENST00000311224.4 |
g.160535251T>C
|
c.331A>G
|
p.Ile111Val
|
possibly damaging
|
PAPPA2 | Mutation | Missense | ENST00000367661.3 |
g.176659492C>A
|
c.2357C>A
|
p.Pro786Gln
|
probably damaging
|
LAMC2 | Mutation | Missense | ENST00000264144.4 |
g.183200111C>T
|
c.1730C>T
|
p.Pro577Leu
|
probably damaging
|
LGR6 | Mutation | Missense | ENST00000367278.3 |
g.202287956G>A
|
c.2525G>A
|
p.Arg842Gln
|
possibly damaging
|
CENPF | Mutation | Missense | ENST00000366955.3 |
g.214817975C>A
|
c.5062C>A
|
p.His1688Asn
|
benign
|
RAB3GAP2 | Mutation | Missense | ENST00000358951.2 |
g.220338086T>C
|
c.3143A>G
|
p.His1048Arg
|
possibly damaging
|
FBXO28 | Mutation | Missense | ENST00000366862.5 |
g.224340949A>G
|
c.622A>G
|
p.Met208Val
|
possibly damaging
|
SNAP47 | Mutation | Missense | ENST00000315781.5 |
g.227946865T>C
|
c.802T>C
|
p.Ser268Pro
|
probably damaging
|
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228468098C>T
|
c.7882C>T
|
p.Arg2628Cys
|
benign
|
MAN1C1 | Mutation | Missense | ENST00000374332.4 |
g.26098153G>A
|
c.1147G>A
|
p.Val383Ile
|
benign
|
ZSCAN20 | Mutation | Missense | ENST00000361328.3 |
g.33957092C>T
|
c.1234C>T
|
p.Arg412Trp
|
probably damaging
|
MACF1 | Mutation | Missense | ENST00000317713.7 |
g.39818694G>A
|
c.5029G>A
|
p.Glu1677Lys
|
probably damaging
|
SZT2 | Mutation | Missense | ENST00000562955.1 |
g.43897471G>A
|
c.5002G>A
|
p.Ala1668Thr
|
benign
|