Abstract THU0005 – Table 1

In silico functional predictions of candidate variants

FamilyGeneChangeSIFTPolyPhen2MutationTaster
TA1ANXA8L1c.449C>T (p.T150M)DeleteriousProbably damagingDisease Causing
EHBP1L1c.3595C>T
(p.R1199C)
DeleteriousProbably damagingPolymorphism
TULP2c.1300T>C
(p.Y434H)
ToleratedBenignPolymorphism
MYH14c.565C>T
(p.R189C)
DeleteriousProbably damagingDisease Causing
SHANK1c.3947G>A
(p.G1316D)
ToleratedPossibly damagingDisease Causing
TA2AP4B1c.263C>T (p.T88I)ToleratedBenignDisease Causing
RIMBP3c.3788A>C (p.E1263A)ToleratedBenignPolymorphism
VCX3Bc.44A>G (p.K15R)ToleratedPossibly damagingPolymorphism
NXF2c.1301+1G>A--Disease Causing