PRDM2 | Mutation | In-Frame | ENST00000235372.7 |
g.14105137_14105138insGAT
|
c.847_848insGAT
|
p.Asp283delinsGlyTyr
|
damaging
|
LDHAL6B | Mutation | In-Frame | ENST00000307144.4 |
g.59499770_59499772del
|
c.631_633del
|
p.Gly211del
|
damaging
|
AATF | Mutation | In-Frame | ENST00000225402.5 |
g.35307591_35307592ins63
|
c.169_170insACACACAGCAGAAAACACCAATACTAAGAAAAAATATGGCACTTACTTCAATGAGGAAGGCTG
|
p.Arg57delins22
|
damaging
|
SOX15 | Mutation | In-Frame | ENST00000250055.2 |
g.7492921_7492923del
|
c.72_74del
|
p.Ser27del
|
damaging
|
NGEF | Mutation | In-Frame | ENST00000264051.3 |
g.233785160_233785162del
|
c.660_662del
|
p.Glu226del
|
damaging
|
FAM189A2 | Mutation | In-Frame | ENST00000257515.8 |
g.72003322_72003324del
|
c.1105_1107del
|
p.Glu369del
|
damaging
|
GPR61 | Mutation | Missense | ENST00000404129.2 |
g.110086402G>A
|
c.758G>A
|
p.Arg253Gln
|
probably damaging
|
CD101 | Mutation | Missense | ENST00000256652.4 |
g.117568514G>A
|
c.2812G>A
|
p.Val938Met
|
probably damaging
|
CCNL2 | Mutation | Missense | ENST00000400809.3 |
g.1334613G>C
|
c.74C>G
|
p.Ser25Cys
|
possibly damaging
|
TMEM240 | Mutation | Missense | ENST00000378733.4 |
g.1470999C>T
|
c.343G>A
|
p.Val115Met
|
probably damaging
|
CGN | Mutation | Missense | ENST00000271636.7 |
g.151503083G>T
|
c.2432G>T
|
p.Arg811Leu
|
possibly damaging
|
FHAD1 | Mutation | Missense | ENST00000358897.4 |
g.15578369T>C
|
c.89T>C
|
p.Leu30Ser
|
probably damaging
|
TMEM79 | Mutation | Missense | ENST00000295694.5 |
g.156261328G>A
|
c.1124G>A
|
p.Arg375His
|
benign
|
HAPLN2 | Mutation | Missense | ENST00000255039.1 |
g.156594985C>T
|
c.832C>T
|
p.Leu278Phe
|
probably damaging
|
CRABP2 | Mutation | Missense | ENST00000368220.1 |
g.156670686C>T
|
c.229G>A
|
p.Val77Met
|
probably damaging
|
ATP1A2 | Mutation | Missense | ENST00000361216.3 |
g.160093019G>T
|
c.194G>T
|
p.Arg65Leu
|
benign
|
FMO3 | Mutation | Missense | ENST00000367755.4 |
g.171077348C>T
|
c.613C>T
|
p.Arg205Cys
|
benign
|
METTL13 | Mutation | Missense | ENST00000361735.3 |
g.171753456G>A
|
c.730G>A
|
p.Glu244Lys
|
benign
|
TNR | Mutation | Missense | ENST00000263525.2 |
g.175375547T>C
|
c.304A>G
|
p.Met102Val
|
benign
|
NPHS2 | Mutation | Missense | ENST00000367615.4 |
g.179533851G>A
|
c.352C>T
|
p.Pro118Ser
|
probably damaging
|
QSOX1 | Mutation | Missense | ENST00000367600.5 |
g.180151339G>A
|
c.637G>A
|
p.Val213Met
|
possibly damaging
|
LHX4 | Mutation | Missense | ENST00000263726.2 |
g.180243701A>C
|
c.1160A>C
|
p.His387Pro
|
probably damaging
|
RGS8 | Mutation | Missense | ENST00000367556.1 |
g.182635145G>A
|
c.152C>T
|
p.Thr51Met
|
benign
|
FAM129A | Mutation | Missense | ENST00000367511.3 |
g.184777288G>A
|
c.1255C>T
|
p.Arg419Cys
|
probably damaging
|
PRG4 | Mutation | Missense | ENST00000445192.2 |
g.186278263A>G
|
c.3412A>G
|
p.Met1138Val
|
benign
|