SLC16A1 | Mutation | In-Frame | ENST00000369626.3 |
g.113460320_113460322del
|
c.706_708del
|
p.Arg236del
|
damaging
|
ITPR2 | Mutation | In-Frame | ENST00000381340.3 |
g.26709269_26709289del
|
c.4841_4861del
|
p.Glu1614_Met1621delinsVal
|
damaging
|
RP11-166B2.1 | Mutation | In-Frame | ENST00000399147.4 |
g.12021341_12021342insTGG
|
c.1082_1083insCCA
|
p.361_361E>DQ
|
damaging
|
AXIN1 | Mutation | In-Frame | ENST00000262320.3 |
g.396700_396744del
|
c.282_326del
|
p.Asp94_Gln108del
|
damaging
|
FABP2 | Mutation | In-Frame | ENST00000274024.3 |
g.120240701_120240703del
|
c.336_338del
|
p.Asp112del
|
damaging
|
KIF1B | Mutation | Missense | ENST00000377081.1 |
g.10355737G>A
|
c.1690G>A
|
p.Glu564Lys
|
benign
|
ADORA3 | Mutation | Missense | ENST00000241356.4 |
g.112045778G>T
|
c.199C>A
|
p.Pro67Thr
|
probably damaging
|
SLC16A1 | Mutation | Missense | ENST00000369626.3 |
g.113460325C>G
|
c.703G>C
|
p.Gly235Arg
|
possibly damaging
|
TNFRSF18 | Mutation | Missense | ENST00000328596.6 |
g.1141926G>A
|
c.26C>T
|
p.Ala9Val
|
benign
|
HIPK1 | Mutation | Missense | ENST00000369554.2 |
g.114499274G>A
|
c.1433G>A
|
p.Gly478Glu
|
probably damaging
|
TTF2 | Mutation | Missense | ENST00000369466.4 |
g.117635518A>G
|
c.2971A>G
|
p.Thr991Ala
|
possibly damaging
|
SPAG17 | Mutation | Missense | ENST00000336338.5 |
g.118548200A>T
|
c.4613T>A
|
p.Leu1538His
|
probably damaging
|
BCL9 | Mutation | Missense | ENST00000234739.3 |
g.147092314C>A
|
c.2353C>A
|
p.Leu785Ile
|
benign
|
ACP6 | Mutation | Missense | ENST00000369238.6 |
g.147121998C>T
|
c.925G>A
|
p.Glu309Lys
|
benign
|
FLG | Mutation | Missense | ENST00000368799.1 |
g.152280589C>T
|
c.6773G>A
|
p.Arg2258Lys
|
possibly damaging
|
INTS3 | Mutation | Missense | ENST00000318967.2 |
g.153742707A>G
|
c.2423A>G
|
p.Tyr808Cys
|
probably damaging
|
AQP10 | Mutation | Missense | ENST00000324978.3 |
g.154296786G>A
|
c.736G>A
|
p.Val246Met
|
possibly damaging
|
RAB25 | Mutation | Missense | ENST00000361084.5 |
g.156038092G>A
|
c.271G>A
|
p.Val91Met
|
probably damaging
|
SLC35E2B | Mutation | Missense | ENST00000234800.6 |
g.1599887C>T
|
c.859G>A
|
p.Gly287Arg
|
benign
|
DUSP12 | Mutation | Missense | ENST00000367943.4 |
g.161726633T>C
|
c.919T>C
|
p.Cys307Arg
|
probably damaging
|
TNR | Mutation | Missense | ENST00000263525.2 |
g.175293532G>C
|
c.3917C>G
|
p.Thr1306Ser
|
benign
|
ASTN1 | Mutation | Missense | ENST00000361833.2 |
g.176998875C>A
|
c.1015G>T
|
p.Gly339Cys (Splice)
|
probably damaging
|
TPR | Mutation | Missense | ENST00000367478.4 |
g.186321206G>A
|
c.2371C>T
|
p.Leu791Phe
|
probably damaging
|
CFH | Mutation | Missense | ENST00000359637.2 |
g.196654257G>A
|
c.662G>A
|
p.Arg221Lys
|
probably damaging
|
CFHR3 | Mutation | Missense | ENST00000367425.4 |
g.196748355C>G
|
c.122C>G
|
p.Pro41Arg
|
benign
|