DCLRE1C | Mutation | In-Frame | ENST00000378278.2 |
g.14951099_14951101del
|
c.1385_1387del
|
p.Glu462del
|
damaging
|
ZWINT | Mutation | In-Frame | ENST00000361148.6 |
g.58120977_58120982del
|
c.16_21del
|
p.Thr6_Glu7del
|
damaging
|
RPS27L | Mutation | In-Frame | ENST00000330964.5 |
g.63448682_63448687del
|
c.40_45del
|
p.Glu14_Glu15del
|
damaging
|
AKAP13 | Mutation | In-Frame | NM_001270546.1 |
g.86262400_86262438del
|
c.1958_1996del
|
p.Gln653_Glu665del
|
damaging
|
PLIN4 | Mutation | In-Frame | ENST00000301286.3 |
g.4511731_4511732ins24
|
c.2198_2199insGTCCAGGGGGGCCTGGACACTACA
|
p.Ala733_Ile734ins8
|
damaging
|
BMP6 | Mutation | In-Frame | ENST00000283147.6 |
g.7727523_7727524insAGC
|
c.335_336insAGC
|
p.Glu112_Gln113insAla
|
damaging
|
DENND2D | Mutation | Missense | ENST00000357640.4 |
g.111740585T>C
|
c.383A>G
|
p.Asn128Ser
|
probably damaging
|
DENND2C | Mutation | Missense | ENST00000393274.1 |
g.115168586C>T
|
c.20G>A
|
p.Arg7His
|
probably damaging
|
VPS13D | Mutation | Missense | ENST00000356315.4 |
g.12333136A>G
|
c.2180A>G
|
p.Lys727Arg
|
possibly damaging
|
FLG | Mutation | Missense | ENST00000368799.1 |
g.152282956C>T
|
c.4406G>A
|
p.Arg1469His
|
benign
|
NUP210L | Mutation | Missense | ENST00000368559.3 |
g.153974300T>C
|
c.5092A>G
|
p.Ile1698Val
|
benign
|
DAP3 | Mutation | Missense | ENST00000343043.3 |
g.155695231A>G
|
c.329A>G
|
p.His110Arg
|
benign
|
CELA2B | Mutation | Missense | ENST00000375910.3 |
g.15813785C>G
|
c.645C>G
|
p.Asp215Glu
|
probably damaging
|
ADCY10 | Mutation | Missense | ENST00000367851.4 |
g.167817638C>T
|
c.2398G>A
|
p.Val800Ile
|
probably damaging
|
LAMC1 | Mutation | Missense | ENST00000258341.4 |
g.183106855G>A
|
c.4366G>A
|
p.Asp1456Asn
|
benign
|
ZNF281 | Mutation | Missense | ENST00000294740.3 |
g.200376462T>C
|
c.2372A>G
|
p.Gln791Arg
|
benign
|
CSRP1 | Mutation | Missense | ENST00000340006.2 |
g.201459355G>A
|
c.230C>T
|
p.Ala77Val
|
probably damaging
|
LGR6 | Mutation | Missense | ENST00000439764.2 |
g.202183337G>T
|
c.55G>T
|
p.Ala19Ser
|
benign
|
FCAMR | Mutation | Missense | ENST00000324852.4 |
g.207131914A>T
|
c.1681T>A
|
p.Ser561Thr
|
possibly damaging
|
ANGEL2 | Mutation | Missense | ENST00000366962.3 |
g.213186671T>C
|
c.149A>G
|
p.His50Arg
|
possibly damaging
|
RAB3GAP2 | Mutation | Missense | ENST00000358951.2 |
g.220445634C>T
|
c.46G>A
|
p.Ala16Thr
|
benign
|
C1orf65 | Mutation | Missense | ENST00000366875.3 |
g.223568031G>T
|
c.1214G>T
|
p.Cys405Phe
|
probably damaging
|
TRIM17 | Mutation | Missense | ENST00000295033.3 |
g.228602394T>A
|
c.380A>T
|
p.His127Leu
|
probably damaging
|
URB2 | Mutation | Missense | ENST00000258243.2 |
g.229770731G>A
|
c.371G>A
|
p.Arg124Gln
|
benign
|
GNPAT | Mutation | Missense | ENST00000366647.4 |
g.231401825A>G
|
c.838A>G
|
p.Ile280Val
|
benign
|