MIER1 | Mutation | In-Frame | ENST00000371018.3 |
g.67452100_67452101insCTT
|
c.1357_1358insCTT
|
p.Leu453delinsProPhe
|
damaging
|
TMEM180 | Mutation | In-Frame | ENST00000238936.4 |
g.104230726_104230728del
|
c.556_558del
|
p.Lys186del
|
damaging
|
RP11-166B2.1 | Mutation | In-Frame | ENST00000399147.4 |
g.12021341_12021342insTGG
|
c.1082_1083insCCA
|
p.361_361E>DQ
|
damaging
|
FBXL19 | Mutation | In-Frame | ENST00000380310.2 |
g.30939160_30939168del
|
c.563_571del
|
p.Leu188_Pro190del
|
damaging
|
RNMT | Mutation | In-Frame | ENST00000262173.3 |
g.13734473_13734475del
|
c.428_430del
|
p.Glu143del
|
damaging
|
SORT1 | Mutation | Missense | ENST00000256637.6 |
g.109898077T>C
|
c.455A>G
|
p.Lys152Arg
|
probably damaging
|
WARS2 | Mutation | Missense | ENST00000235521.4 |
g.119575758C>T
|
c.859G>A
|
p.Val287Met
|
possibly damaging
|
TAS1R3 | Mutation | Missense | ENST00000339381.5 |
g.1268034T>A
|
c.1123T>A
|
p.Cys375Ser
|
benign
|
LCE3B | Mutation | Missense | ENST00000335633.1 |
g.152586537C>A
|
c.251C>A
|
p.Ala84Asp
|
benign
|
NR1I3 | Mutation | Missense | ENST00000367982.4 |
g.161200610G>A
|
c.922C>T
|
p.Arg308Trp
|
probably damaging
|
C1orf226 | Mutation | Missense | ENST00000458626.2 |
g.162353370T>G
|
c.716T>G
|
p.Ile239Ser
|
benign
|
NADK | Mutation | Missense | ENST00000344463.4 |
g.1690636C>T
|
c.479G>A
|
p.Arg160Gln
|
benign
|
TNFSF18 | Mutation | Missense | ENST00000404377.3 |
g.173010544C>A
|
c.563G>T
|
p.Gly188Val
|
probably damaging
|
ATP13A2 | Mutation | Missense | ENST00000326735.8 |
g.17320293C>A
|
c.1580G>T
|
p.Gly527Val
|
probably damaging
|
AKR7A2 | Mutation | Missense | ENST00000235835.3 |
g.19633883G>A
|
c.613C>T
|
p.Arg205Trp
|
probably damaging
|
FAAP20 | Mutation | Missense | NM_001146310.1 |
g.2116839C>T
|
c.571G>A
|
p.Gly108Arg
|
damaging
|
EIF4G3 | Mutation | Missense | ENST00000264211.8 |
g.21268475A>T
|
c.1004T>A
|
p.Ile335Lys
|
benign
|
NSL1 | Mutation | Missense | ENST00000422588.2 |
g.212939560A>C
|
c.555T>G
|
p.Asp185Glu
|
benign
|
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228505746G>A
|
c.14003G>A
|
p.Arg4668Gln
|
possibly damaging
|
TRIM67 | Mutation | Missense | ENST00000366652.2 |
g.231298879C>T
|
c.164C>T
|
p.Ser55Leu
|
benign
|
FAM76A | Mutation | Missense | ENST00000373949.1 |
g.28059159G>T
|
c.192G>T
|
p.Leu64Phe
|
probably damaging
|
ZBTB8B | Mutation | Missense | ENST00000609129.1 |
g.32937081C>T
|
c.856C>T
|
p.Arg286Cys
|
benign
|
SYNC | Mutation | Missense | ENST00000373484.3 |
g.33160669C>T
|
c.1030G>A
|
p.Glu344Lys
|
probably damaging
|
SZT2 | Mutation | Missense | ENST00000562955.1 |
g.43898419C>T
|
c.5380C>T
|
p.Arg1794Trp
|
benign
|
SLC6A9 | Mutation | Missense | ENST00000360584.2 |
g.44463398G>A
|
c.1940C>T
|
p.Ala647Val
|
possibly damaging
|