ARID1A | Mutation | In-Frame | ENST00000324856.7 |
g.27100182_27100183insGCA
|
c.3978_3979insGCA
|
p.Pro1326_Gln1327insAla
|
damaging
|
TMEM132B | Mutation | In-Frame | ENST00000299308.3 |
g.126139196_126139197ins54
|
c.3177_3178insATTTTAAAATGTACAATTAAATTATTATTGACTATAATCATAGTCACCCTGCTG
|
p.Met1059_Gly1060ins18
|
damaging
|
KRTAP9-1 | Mutation | In-Frame | ENST00000398470.1 |
g.39346414_39346428del
|
c.276_290del
|
p.Ser93_Gly97del
|
damaging
|
ADRA2B | Mutation | In-Frame | ENST00000409345.3 |
g.96780975_96780977delTCC
|
c.912_914del
|
p.307_308EE>E
|
damaging
|
MYLK | Mutation | In-Frame | ENST00000360304.3 |
g.123337614_123337616del
|
c.5370_5372del
|
p.Glu1790del
|
damaging
|
MAGEC2 | Mutation | In-Frame | ENST00000247452.3 |
g.141291659_141291667del
|
c.107_115del
|
p.Glu36_Glu38del
|
damaging
|
WDR3 | Mutation | Missense | ENST00000349139.5 |
g.118481173C>T
|
c.571C>T
|
p.Arg191Trp
|
probably damaging
|
TCHH | Mutation | Missense | ENST00000368804.1 |
g.152083976C>T
|
c.1717G>A
|
p.Glu573Lys
|
benign
|
NPR1 | Mutation | Missense | ENST00000368680.3 |
g.153651622G>T
|
c.38G>T
|
p.Arg13Leu
|
benign
|
CRTC2 | Mutation | Missense | ENST00000368633.1 |
g.153923872G>C
|
c.1268C>G
|
p.Ala423Gly
|
possibly damaging
|
CD1D | Mutation | Missense | ENST00000368171.3 |
g.158152727G>C
|
c.667G>C
|
p.Val223Leu
|
probably damaging
|
ARHGAP30 | Mutation | Missense | ENST00000368013.3 |
g.161018629T>G
|
c.2182A>C
|
p.Ser728Arg
|
benign
|
CD247 | Mutation | Missense | ENST00000362089.5 |
g.167407839G>A
|
c.268C>T
|
p.Arg90Cys
|
probably damaging
|
SCYL3 | Mutation | Missense | ENST00000367770.1 |
g.169823662C>A
|
c.1918G>T
|
p.Val640Leu
|
benign
|
KIFAP3 | Mutation | Missense | ENST00000361580.2 |
g.169952413T>C
|
c.1504A>G
|
p.Ile502Val (Splice)
|
benign
|
MROH9 | Mutation | Missense | ENST00000367759.4 |
g.170993603A>G
|
c.1976A>G
|
p.Tyr659Cys
|
probably damaging
|
SUCO | Mutation | Missense | ENST00000263688.3 |
g.172579065A>G
|
c.3431A>G
|
p.Gln1144Arg
|
possibly damaging
|
ENAH | Mutation | Missense | ENST00000366843.2 |
g.225706905C>G
|
c.797G>C
|
p.Ser266Thr
|
benign
|
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228402024G>T
|
c.1408G>T
|
p.Ala470Ser
|
benign
|
RASSF10 | Mutation | Missense | NM_001080521.2 |
g.13031542C>T
|
c.419C>T
|
p.Pro140Leu
|
probably damaging
|
DNAJC6 | Mutation | Missense | ENST00000395325.3 |
g.65851433C>G
|
c.668C>G
|
p.Pro223Arg
|
probably damaging
|
IL23R | Mutation | Missense | ENST00000347310.5 |
g.67724660C>T
|
c.1739C>T
|
p.Pro580Leu
|
benign
|
CAMTA1 | Mutation | Missense | ENST00000303635.7 |
g.7725149G>A
|
c.2542G>A
|
p.Val848Ile
|
probably damaging
|
USP33 | Mutation | Missense | ENST00000357428.1 |
g.78191442T>C
|
c.1234A>G
|
p.Ile412Val
|
benign
|
SYDE2 | Mutation | Missense | ENST00000341460.5 |
g.85630370C>A
|
c.2924G>T
|
p.Cys975Phe
|
possibly damaging
|