Table 1.
Rare, non-synonymous, exonic variants in BAV cohort predicted damaging by in-silico analysis, confirmed by Sanger sequencing
| Gene name | Nucleotide change | Amino acid change | De novo | SIFT | PP2 | EA EVS | All EVS | 1000G MAF | dbSNP137 ID |
|---|---|---|---|---|---|---|---|---|---|
|
APC |
c.C7862G |
p.S2621C |
yes |
0.03 |
0.641 |
0.005 |
0.003 |
0.058 |
rs72541816 |
|
AXIN1 |
c.G2522A |
p.R841Q |
no |
0.4 |
1 |
0.012 |
0.008 |
0.01 |
rs34015754 |
|
AXIN2 |
c.C2051T |
p.A684V |
no |
0.01 |
0.95 |
0.002 |
0.001 |
0 |
rs138287857 |
|
FLT1 |
c.C3092G |
p.S1031C |
no |
0 |
1 |
0 |
0 |
0 |
N/A |
|
GATA4 |
c.G1310C |
p.G437A |
no |
0 |
0.787 |
0 |
0 |
0 |
N/A |
|
GATA5 |
c.T698C |
p.L233P |
yes |
0.05 |
0.723 |
0.001 |
0.001 |
0.003 |
rs116164480 |
|
GLI1 |
c.G3142A |
p.D1048N |
no |
0 |
1 |
0 |
0 |
0 |
N/A |
|
JAG1 |
c.G2810A |
p.R937Q |
no |
0.47 |
0.093 |
0.002 |
0.001 |
0.001 |
rs145895196 |
|
MCTP2 |
c.C1634T |
p.T545M |
unknown |
0 |
1 |
0 |
0 |
0 |
N/A |
|
MCTP2 |
c.C2539T |
p.L847F |
no |
0 |
1 |
0.0002 |
0.0002 |
0 |
rs150149342 |
|
MSX1 |
c.A581G |
p.K194R |
no |
0 |
0.878 |
0.0003 |
0.0002 |
0 |
rs149092063 |
|
NFATC1 |
c.C230T |
p.P77L |
no |
0 |
0.972 |
0 |
0 |
0 |
rs143045693 |
|
NFATC1 |
c.G628A |
p.V210M |
no |
0.04 |
1 |
0 |
0 |
0 |
rs62096875 |
|
NOS1 |
c.G1975A |
p.A659T |
no |
0 |
1 |
0 |
0 |
0 |
N/A |
|
NOTCH1 |
c.C6481T |
p.P2161S |
unknown |
0.02 |
0.975 |
0.0002 |
0.0002 |
0.001 |
rs201518848 |
|
NOTCH2 |
c.G6363C |
p.K2121N |
no |
0.09 |
0.964 |
0.0008 |
0.0005 |
0 |
rs144047610 |
|
NOTCH3 |
c.A509G |
p.H170R |
no |
0.01 |
0.974 |
0.002 |
0.001 |
0.001 |
rs147373451 |
|
PAX6 |
c.G1225A |
p.G409R |
no |
0 |
1 |
0 |
0 |
0 |
N/A |
|
PIGF |
c.A370G |
p.T124A |
no |
0.27 |
0.711 |
0.002 |
0.002 |
0.001 |
rs139098189 |
|
PPP3CA |
c.C334T |
p.R112C |
no |
0 |
1 |
0 |
0 |
0 |
N/A |
|
PTCH1 |
c.G3487A |
p.G1163S |
no |
0.06 |
1 |
0.0006 |
0.0006 |
0.001 |
rs113663584 |
|
PTCH2 |
c.C3139T |
p.R1047W |
no |
0 |
0.998 |
0 |
0 |
0 |
N/A |
|
SLC35B2 |
c.A1105G |
p.I369V |
no |
0.04 |
0.891 |
0 |
0.00008 |
0 |
N/A |
|
SNAI3 |
c.C488T |
p.T163M |
no |
0.02 |
0.752 |
0 |
0 |
0.001 |
rs202205064 |
|
SOX9 |
c.G817C |
p.V273L |
no |
0 |
0.719 |
0 |
0 |
0 |
rs201477430 |
|
TBX5 |
c.C1115T |
p.S372L |
no |
0.65 |
0.861 |
0.0003 |
0.0002 |
0.001 |
rs143068551 |
|
TBX5 |
c.G787A |
p.V263M |
no |
0.41 |
0.995 |
0 |
0.004 |
0.006 |
rs147405081 |
|
VEGFB |
c.C286G |
p.Q96E |
no |
0 |
0.596 |
0.002 |
0.002 |
0.002 |
rs111555072 |
|
VEGFC |
c.A140T |
p.E47V |
no |
0.01 |
0.985 |
0.005 |
0.004 |
0 |
rs55728985 |
|
WNT4 |
c.C129A |
p.C43X |
no |
STOP |
STOP |
0 |
0 |
0 |
N/A |
| ZNF236 | c.C4628T | p.P1543L | no | 0.03 | 0.943 | 0 | 0 | 0 | N/A |
PP2; Polyphen 2.
EA, European American.
EVS, Exome Variant Server.
1000G, 1000 Genomes.