ASCC1 | Mutation | In-Frame | ENST00000342444.4 |
g.73862691_73862692ins33
|
c.1075_1076insGCAAAAAAAAGGAAAAAAAAACATAGTATCTAT
|
p.Asp359_Ser400delins8X
|
damaging
|
RERGL | Mutation | In-Frame | ENST00000229002.2 |
g.18234192_18234193ins153
|
c.550_551insTGACATGGAGACATAGAATGTTACTGCTAGACCAGACACTCCAAATGAAAGAAGTGCTGCCATAACTGCAGCCCCAGAATTTGGCAATCTCTGGTATCTCAGTCAGGTCAATGATAGGATGACAACAGAGGAAAGAGAACAATTCCCCACAGG
|
p.Pro184_Val205delins21X
|
damaging
|
CYFIP1 | Mutation | In-Frame | ENST00000313077.7 |
g.22954235_22954240del
|
c.1385_1390del
|
p.Gln462_Val463del
|
damaging
|
GZF1 | Mutation | In-Frame | ENST00000338121.5 |
g.23345961_23345963del
|
c.941_943del
|
p.Lys314del
|
damaging
|
SFI1 | Mutation | In-Frame | ENST00000400288.2 |
g.32014362_32014363insCTG
|
c.3687_3688insCTG
|
p.Ala1229_Cys1230insLeu
|
damaging
|
ALDOB | Mutation | In-Frame | ENST00000374855.4 |
g.104192168_104192170del
|
c.191_193del
|
p.Phe64del
|
damaging
|
TSC1 | Mutation | In-Frame | ENST00000298552.3 |
g.135771988_135771989insGCT
|
c.3128_3129insAGC
|
p.Ser1043delinsArgAla
|
damaging
|
DDX20 | Mutation | Missense | ENST00000369702.4 |
g.112303425G>A
|
c.778G>A
|
p.Asp260Asn
|
benign
|
DENND2C | Mutation | Missense | ENST00000393276.3 |
g.115143469T>C
|
c.1757A>G
|
p.Lys643Arg
|
benign
|
IGSF3 | Mutation | Missense | ENST00000318837.6 |
g.117150851C>T
|
c.935G>A
|
p.Arg312His
|
probably damaging
|
POGZ | Mutation | Missense | ENST00000271715.2 |
g.151378683T>C
|
c.2828A>G
|
p.Asp943Gly
|
benign
|
SPTA1 | Mutation | Missense | ENST00000368147.4 |
g.158607931C>T
|
c.5081G>A
|
p.Arg1694His
|
probably damaging
|
ADAMTS4 | Mutation | Missense | ENST00000367995.3 |
g.161168120A>G
|
c.298T>C
|
p.Ser100Pro
|
benign
|
MIR205HG | Mutation | Missense | NM_001104548.1 |
g.209603789A>T
|
c.131A>T
|
p.Tyr44Phe
|
NA
|
PTPRC | Mutation | Missense | ENST00000367376.2 |
g.198676028C>A
|
c.845C>A
|
p.Ser282Tyr
|
benign
|
GPATCH2 | Mutation | Missense | ENST00000366934.3 |
g.217793189G>T
|
c.709C>A
|
p.Gln237Lys
|
benign
|
OBSCN | Mutation | Missense | ENST00000570156.2 |
g.228461096A>T
|
c.6110A>T
|
p.D2037V
|
NA
|
PEX10 | Mutation | Missense | ENST00000288774.3 |
g.2339977C>A
|
c.514G>T
|
p.Ala172Ser
|
benign
|
HCRTR1 | Mutation | Missense | ENST00000373705.1 |
g.32090716A>G
|
c.1084A>G
|
p.Ser362Gly
|
probably damaging
|
CYP4B1 | Mutation | Missense | ENST00000271153.4 |
g.47280765T>G
|
c.899T>G
|
p.Leu300Arg
|
probably damaging
|
SLC35D1 | Mutation | Missense | ENST00000235345.5 |
g.67518477G>A
|
c.301C>T
|
p.Leu101Phe
|
benign
|
COL24A1 | Mutation | Missense | ENST00000370571.2 |
g.86334514T>C
|
c.3143A>G
|
p.Glu1048Gly
|
probably damaging
|
SEP15 | Mutation | Missense | ENST00000331835.5 |
g.87369110A>T
|
c.97T>A
|
p.F33I
|
benign
|
NOC2L | Mutation | Missense | ENST00000327044.6 |
g.880159G>C
|
c.2165C>G
|
p.Ala722Gly
|
possibly damaging
|
COL17A1 | Mutation | Missense | ENST00000353479.5 |
g.105797412C>T
|
c.3190G>A
|
p.Val1064Ile
|
probably damaging
|