FRMD4A | Mutation | In-Frame | ENST00000357447.2 |
g.13698924_13698925insCGC
|
c.2665_2666insCGG
|
p.Gly888_Asp889insAla
|
damaging
|
TECPR2 | Mutation | In-Frame | ENST00000359520.7 |
g.102904395_102904421del
|
c.2431_2457del
|
p.Tyr811_Ser819del
|
damaging
|
MED26 | Mutation | In-Frame | ENST00000263390.3 |
g.16688184_16688185insGGTCACCCC
|
c.456_457insGGGGTGACC
|
p.Asp152_Gln153insGlyValThr
|
damaging
|
OCSTAMP | Mutation | In-Frame | ENST00000279028.2 |
g.45174858_45174869del
|
c.144_155del
|
p.Thr50_Leu53del
|
damaging
|
ARID1A | Mutation | In-Frame | ENST00000324856.7 |
g.27023923_27023937del
|
c.1029_1043del
|
p.Ala345_Ala349del
|
damaging
|
PDE4DIP | Mutation | Missense | ENST00000369349.3 |
g.144916644G>A
|
c.1711C>T
|
p.Arg571Cys
|
probably damaging
|
OTUD7B | Mutation | Missense | ENST00000369135.4 |
g.149949406G>A
|
c.40C>T
|
p.Arg14Cys
|
probably damaging
|
HDGF | Mutation | Missense | ENST00000357325.5 |
g.156713640T>A
|
c.520A>T
|
p.Asn174Tyr
|
benign
|
DUSP27 | Mutation | Missense | ENST00000271385.5 |
g.167095134C>T
|
c.766C>T
|
p.Arg256Cys
|
probably damaging
|
DUSP27 | Mutation | Missense | ENST00000271385.5 |
g.167096035T>C
|
c.1667T>C
|
p.Phe556Ser
|
probably damaging
|
CACNA1S | Mutation | Missense | ENST00000362061.3 |
g.201058502G>A
|
c.784C>T
|
p.Arg262Trp
|
probably damaging
|
URB2 | Mutation | Missense | ENST00000258243.2 |
g.229773866C>T
|
c.3506C>T
|
p.Ala1169Val
|
benign
|
TRIM67 | Mutation | Missense | ENST00000366653.5 |
g.231351163C>T
|
c.2329C>T
|
p.Arg777Trp
|
probably damaging
|
KIAA1804 | Mutation | Missense | NM_032435.2 |
g.233514836C>T
|
c.2084C>T
|
p.A695V
|
benign
|
PGBD2 | Mutation | Missense | ENST00000329291.5 |
g.249212090G>A
|
c.1307G>A
|
p.Arg436His
|
benign
|
LDLRAP1 | Mutation | Missense | ENST00000374338.4 |
g.25880491C>T
|
c.167C>T
|
p.Thr56Met
|
probably damaging
|
TTC34 | Mutation | Missense | ENST00000401095.3 |
g.2704191G>A
|
c.170C>T
|
p.Ala57Val
|
benign
|
CLSPN | Mutation | Missense | ENST00000251195.5 |
g.36217011T>C
|
c.1868A>G
|
p.Asp623Gly
|
probably damaging
|
ABCA4 | Mutation | Missense | ENST00000370225.3 |
g.94487460G>A
|
c.4715C>T
|
p.Thr1572Met
|
possibly damaging
|
AGRN | Mutation | Missense | ENST00000379370.2 |
g.984346C>T
|
c.4205C>T
|
p.Ala1402Val
|
benign
|
COX15 | Mutation | Missense | ENST00000016171.5 |
g.101474424C>T
|
c.1153G>A
|
p.Ala385Thr
|
probably damaging
|
C10orf2 | Mutation | Missense | ENST00000311916.2 |
g.102749487T>C
|
c.1330T>C
|
p.Phe444Leu
|
possibly damaging
|
POLL | Mutation | Missense | ENST00000299206.4 |
g.103339229G>C
|
c.1709C>G
|
p.Pro570Arg
|
probably damaging
|
C10orf95 | Mutation | Missense | ENST00000239125.1 |
g.104210275G>T
|
c.713C>A
|
p.Ala238Glu
|
probably damaging
|
CNNM2 | Mutation | Missense | ENST00000369875.3 |
g.104678650C>T
|
c.413C>T
|
p.Pro138Leu
|
benign
|