ZBTB21 | Mutation | In-Frame | ENST00000310826.5 |
g.43412989_43412990insGAT
|
c.1215_1216insATC
|
p.His405_Arg406insIle
|
damaging
|
UGT2B11 | Mutation | In-Frame | ENST00000446444.1 |
g.70066307_70066475del
|
c.1311-38_1441del
|
p.L437_splice
|
damaging
|
PROB1 | Mutation | In-Frame | ENST00000434752.2 |
g.138728094_138728096del
|
c.2675_2677del
|
p.Tyr892del
|
damaging
|
ASCC3 | Mutation | In-Frame | ENST00000369143.2 |
g.101307022_101307054del
|
c.266_298del
|
p.Arg89_Lys99del
|
damaging
|
HLA-DRB1 | Mutation | In-Frame | ENST00000360004.5 |
g.32552130_32552131ins21
|
c.125_126insTTCTTGGAGTACTCTACGGGT
|
p.Arg42delins8
|
damaging
|
CRH | Mutation | In-Frame | ENST00000276571.3 |
g.67089559_67089560insGCG
|
c.154_155insGCC
|
p.Pro51_Gln52insArg
|
damaging
|
COL11A1 | Mutation | Missense | ENST00000370096.3 |
g.103444283G>A
|
c.2735C>T
|
p.Pro912Leu
|
possibly damaging
|
CELSR2 | Mutation | Missense | ENST00000271332.3 |
g.109793822G>A
|
c.1121G>A
|
p.Arg374Gln
|
possibly damaging
|
ACP6 | Mutation | Missense | ENST00000369238.6 |
g.147121997T>C
|
c.926A>G
|
p.Glu309Gly
|
possibly damaging
|
ACP6 | Mutation | Missense | ENST00000369238.6 |
g.147121998C>T
|
c.925G>A
|
p.Glu309Lys
|
benign
|
FLG | Mutation | Missense | ENST00000368799.1 |
g.152281505C>A
|
c.5857G>T
|
p.Gly1953Cys
|
possibly damaging
|
KRTCAP2 | Mutation | Missense | ENST00000295682.4 |
g.155145751T>C
|
c.28A>G
|
p.Ser10Gly
|
benign
|
CD5L | Mutation | Missense | ENST00000368174.4 |
g.157803177A>T
|
c.844T>A
|
p.Cys282Ser
|
probably damaging
|
PLEKHM2 | Mutation | Missense | ENST00000375799.3 |
g.16053822G>A
|
c.1255G>A
|
p.Gly419Arg
|
probably damaging
|
MAEL | Mutation | Missense | ENST00000367872.4 |
g.166959040A>G
|
c.199A>G
|
p.Lys67Glu
|
benign
|
POU2F1 | Mutation | Missense | ENST00000420254.3 |
g.167365538G>A
|
c.934G>A
|
p.Ala312Thr
|
possibly damaging
|
NADK | Mutation | Missense | ENST00000344463.4 |
g.1691286A>C
|
c.319T>G
|
p.Ser107Ala
|
benign
|
SCYL3 | Mutation | Missense | ENST00000367770.1 |
g.169836049G>C
|
c.803C>G
|
p.Thr268Arg
|
probably damaging
|
KIAA1614 | Mutation | Missense | ENST00000367588.4 |
g.180885782C>G
|
c.543C>G
|
p.Asn181Lys
|
benign
|
BRINP3 | Mutation | Missense | ENST00000367462.3 |
g.190068070C>T
|
c.1379G>A
|
p.Cys460Tyr
|
probably damaging
|
BRINP3 | Mutation | Missense | ENST00000367462.3 |
g.190195412C>T
|
c.761G>A
|
p.Arg254His
|
benign
|
CAPN8 | Mutation | Missense | ENST00000366873.2 |
g.223807121G>A
|
c.1009C>T
|
p.R337W
|
probably damaging
|
ITPKB | Mutation | Missense | ENST00000272117.3 |
g.226924630G>A
|
c.530C>T
|
p.Pro177Leu
|
probably damaging
|
RYR2 | Mutation | Missense | ENST00000366574.2 |
g.237948091C>T
|
c.13079C>T
|
p.Ser4360Phe
|
benign
|
OR1C1 | Mutation | Missense | ENST00000408896.2 |
g.247921099C>T
|
c.610G>A
|
p.Gly204Ser
|
benign
|