Family | Gene | Change | SIFT | PolyPhen2 | MutationTaster |
---|---|---|---|---|---|
TA1 | ANXA8L1 | c.449C>T (p.T150M) | Deleterious | Probably damaging | Disease Causing |
EHBP1L1 | c.3595C>T (p.R1199C) | Deleterious | Probably damaging | Polymorphism | |
TULP2 | c.1300T>C (p.Y434H) | Tolerated | Benign | Polymorphism | |
MYH14 | c.565C>T (p.R189C) | Deleterious | Probably damaging | Disease Causing | |
SHANK1 | c.3947G>A (p.G1316D) | Tolerated | Possibly damaging | Disease Causing | |
TA2 | AP4B1 | c.263C>T (p.T88I) | Tolerated | Benign | Disease Causing |
RIMBP3 | c.3788A>C (p.E1263A) | Tolerated | Benign | Polymorphism | |
VCX3B | c.44A>G (p.K15R) | Tolerated | Possibly damaging | Polymorphism | |
NXF2 | c.1301+1G>A | - | - | Disease Causing |