TRIM64C | Mutation | In-Frame | ENST00000530230.1 |
g.49080591_49080592insGGGTCTATG
|
c.74_75insATAGACCCC
|
p.Val26X
|
damaging
|
RCE1 | Mutation | In-Frame | ENST00000309657.3 |
g.66610978_66610986del
|
c.52_60del
|
p.Glu18_Pro20del
|
damaging
|
DUOX2 | Mutation | In-Frame | ENST00000389039.6 |
g.45394038_45394058del
|
c.2784_2804del
|
p.Asp930_Arg936del
|
damaging
|
TSHZ2 | Mutation | In-Frame | ENST00000371497.5 |
g.51870084_51870086del
|
c.87_89del
|
p.Glu34del
|
damaging
|
IL17RC | Mutation | In-Frame | ENST00000295981.3 |
g.9959222_9959223insTCTGGTCTT
|
c.223_224insTCTGGTCTT
|
p.Leu74_Ser75insPheTrpSer
|
damaging
|
MPDZ | Mutation | In-Frame | ENST00000319217.7 |
g.13196173_13196175del
|
c.1601_1603del
|
p.Glu534del
|
damaging
|
TAS1R3 | Mutation | Missense | ENST00000339381.5 |
g.1267608C>T
|
c.697C>T
|
p.Arg233Cys
|
probably damaging
|
TAS1R3 | Mutation | Missense | ENST00000339381.5 |
g.1268747C>T
|
c.1588C>T
|
p.Arg530Trp
|
benign
|
MXRA8 | Mutation | Missense | ENST00000309212.6 |
g.1290506C>A
|
c.505G>T
|
p.Gly169Cys
|
probably damaging
|
BOLA1 | Mutation | Missense | ENST00000369150.1 |
g.149871738G>C
|
c.126G>C
|
p.Glu42Asp
|
benign
|
FLG | Mutation | Missense | ENST00000368799.1 |
g.152282882C>A
|
c.4480G>T
|
p.Gly1494Trp
|
probably damaging
|
SLC50A1 | Mutation | Missense | NM_001287592.1 |
g.155108066A>G
|
c.4A>G
|
p.Ile2Val
|
NA
|
OR10K2 | Mutation | Missense | ENST00000314902.2 |
g.158389960C>G
|
c.697G>C
|
p.Gly233Arg
|
probably damaging
|
SLAMF9 | Mutation | Missense | ENST00000368093.3 |
g.159921481C>A
|
c.840G>T
|
p.Lys280Asn
|
possibly damaging
|
FCRLB | Mutation | Missense | ENST00000336830.5 |
g.161693280C>T
|
c.176C>T
|
p.Thr59Ile
|
possibly damaging
|
CDK11A | Mutation | Missense | ENST00000357760.2 |
g.1650844C>T
|
c.278G>A
|
p.Arg93Gln
|
probably damaging
|
IGFN1 | Mutation | Missense | ENST00000335211.4 |
g.201163380G>A
|
c.106G>A
|
p.Val36Ile
|
benign
|
OPTC | Mutation | Missense | ENST00000367222.2 |
g.203465241G>C
|
c.108G>C
|
p.Arg36Ser
|
benign
|
CDC42BPA | Mutation | Missense | ENST00000334218.5 |
g.227257549C>G
|
c.2833G>C
|
p.Glu945Gln
|
benign
|
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228548329C>T
|
c.19736C>T
|
p.Ala6579Val
|
benign
|
URB2 | Mutation | Missense | ENST00000258243.2 |
g.229770779C>T
|
c.419C>T
|
p.Thr140Met
|
probably damaging
|
RYR2 | Mutation | Missense | ENST00000366574.2 |
g.237949311A>G
|
c.13303A>G
|
p.Thr4435Ala
|
benign
|
CHML | Mutation | Missense | ENST00000366553.1 |
g.241798739C>G
|
c.330G>C
|
p.Glu110Asp
|
benign
|
SH3D21 | Mutation | Missense | ENST00000426732.2 |
g.36773415C>T
|
c.133C>T
|
p.Arg45Trp
|
probably damaging
|
GLIS1 | Mutation | Missense | ENST00000312233.2 |
g.53980338G>T
|
c.1318C>A
|
p.His440Asn
|
probably damaging
|