OR10K1 | Mutation | Missense | ENST00000289451.2 |
g.158435924C>A
|
c.573C>A
|
p.His191Gln
|
benign
|
KCNJ10 | Mutation | Missense | ENST00000368089.3 |
g.160012318G>A
|
c.5C>T
|
p.Thr2Met
|
benign
|
CD244 | Mutation | Missense | ENST00000368033.3 |
g.160811258G>A
|
c.412C>T
|
p.Arg138Cys
|
benign
|
SPEN | Mutation | Missense | ENST00000375759.3 |
g.16260264C>T
|
c.7529C>T
|
p.Ala2510Val
|
benign
|
IER5 | Mutation | Missense | ENST00000367577.4 |
g.181058232C>T
|
c.194C>T
|
p.Ala65Val
|
probably damaging
|
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228432266A>T
|
c.3475A>T
|
p.Ile1159Phe
|
possibly damaging
|
MEGF6 | Mutation | Missense | ENST00000356575.4 |
g.3422087G>C
|
c.1952C>G
|
p.Ser651Trp
|
probably damaging
|
ZFP69B | Mutation | Missense | ENST00000411995.2 |
g.40928278C>A
|
c.622C>A
|
p.Gln208Lys
|
benign
|
KLF17 | Mutation | Missense | ENST00000372299.3 |
g.44595221T>C
|
c.278T>C
|
p.Leu93Pro
|
possibly damaging
|
GLIS1 | Mutation | Missense | ENST00000312233.2 |
g.53972314G>A
|
c.1841C>T
|
p.Pro614Leu
|
probably damaging
|
GLIS1 | Mutation | Missense | ENST00000312233.2 |
g.53972315G>A
|
c.1840C>T
|
p.Pro614Ser
|
possibly damaging
|
TACSTD2 | Mutation | Missense | ENST00000371225.2 |
g.59042002C>T
|
c.827G>A
|
p.Gly276Asp
|
possibly damaging
|
GPAM | Mutation | Missense | ENST00000348367.4 |
g.113940284G>A
|
c.172C>T
|
p.Arg58Trp
|
probably damaging
|
ABLIM1 | Mutation | Missense | ENST00000277895.5 |
g.116417737A>G
|
c.223T>C
|
p.Cys75Arg
|
benign
|
ECHDC3 | Mutation | Missense | ENST00000379215.4 |
g.11797518G>A
|
c.502G>A
|
p.Asp168Asn
|
benign
|
WDR11 | Mutation | Missense | ENST00000263461.6 |
g.122630836G>C
|
c.1449G>C
|
p.M483I
|
benign
|
ADARB2 | Mutation | Missense | ENST00000381312.1 |
g.1262964C>T
|
c.1609G>A
|
p.Ala537Thr
|
benign
|
TCERG1L | Mutation | Missense | ENST00000368642.4 |
g.132944911C>A
|
c.1047G>T
|
p.Trp349Cys
|
probably damaging
|
ITGA8 | Mutation | Missense | ENST00000378076.3 |
g.15650284G>T
|
c.1559C>A
|
p.Ser520Tyr
|
possibly damaging
|
CUBN | Mutation | Missense | ENST00000377833.4 |
g.16982150C>T
|
c.5429G>A
|
p.Arg1810Gln
|
probably damaging
|
SVIL | Mutation | Missense | ENST00000355867.4 |
g.29821019G>A
|
c.1921C>T
|
p.Arg641Cys
|
probably damaging
|
ANKRD30A | Mutation | Missense | ENST00000361713.1 |
g.37454054G>T
|
c.1867G>T
|
p.Asp623Tyr
|
probably damaging
|
FBXO18 | Mutation | Missense | ENST00000362091.4 |
g.5948434G>C
|
c.592G>C
|
p.Gly198Arg
|
probably damaging
|
PLCE1 | Mutation | Missense | ENST00000260766.3 |
g.96064329G>A
|
c.5549G>A
|
p.Cys1850Tyr
|
probably damaging
|
TMPRSS5 | Mutation | Missense | ENST00000299882.5 |
g.113563965C>G
|
c.792G>C
|
p.Arg264Ser
|
probably damaging
|