Table 2. Summary of 23 SCC-specific mutations.
| Gene |
Exonic/ |
Transcript |
Codon |
dbSNP |
Status |
SIFT |
PolyPhen |
SCC |
EXAC |
|---|---|---|---|---|---|---|---|---|---|
| Biotype | patient (N) | (East Asia) | |||||||
| BFSP1 |
MISSENSE |
NM_001195:p.Glu468Lys |
Gag/Aag |
|
Het |
0.02 damaging |
0.531 possibly damaging |
1 |
0 |
| BFSP2 |
MISSENSE |
NM_003571:p.Gly68Asp |
gGc/gAc |
|
Het |
0.01 damaging |
0.981 probably damaging |
1 |
NA |
| CRYAA |
MISSENSE |
NM_000394:p.Val161Met |
Gtg/Atg |
|
Het |
0 damaging |
0.965 probably damaging |
1 |
0 |
| CRYBA2 |
MISSENSE |
NM_005209:p.Phe63Ser |
tTc/tCc |
|
Het |
0 damaging |
1.000 probably damaging |
1 |
NA |
| CRYBB3 |
MISSENSE |
NM_004076:p.Gly156Arg |
Ggg/Agg |
|
Het |
0 damaging |
1.000 probably damaging |
2 |
NA |
| CRYBB3 |
MISSENSE |
NM_004076:p.Gly76Arg |
Ggg/Agg |
|
Het |
0 damaging |
1.000 probably damaging |
1 |
0.000231 |
| CRYBB3 |
MISSENSE |
NM_004076:p.Arg105Gln |
cGg/cAg |
rs17670506 |
Het |
0.03 damaging |
1.000 probably damaging |
1 |
0.000694 |
| CRYGA |
SPLICE_SITE
ACCEPTOR |
NM_014617 |
|
|
Het |
|
N/A |
1 |
NA |
| CRYGC |
NONSENSE |
NM_020989:p.Gln113* |
Cag/Tag |
|
Het |
N/A |
|
1 |
NA |
| CRYGC |
MISSENSE |
NM_020989:p.Glu94Lys |
Gag/Aag |
rs200572745 |
Het |
0 damaging |
0.999 probably damaging |
1 |
0.000116 |
| EPHA2 |
NONSENSE |
NM_004431:p.Lys935* |
Aag/Tag |
|
Het |
N/A |
|
1 |
NA |
| EPHA2 |
MISSENSE |
NM_004431:p.Glu934Lys |
Gag/Aag |
|
Het |
0.01 damaging |
0.985 probably damaging |
1 |
0 |
| FBN1 |
MISSENSE |
NM_000138:p.Asn497Lys |
aaC/aaG |
|
Het |
0.04 damaging |
0.856 possibly damaging |
1 |
NA |
| FOXE3 |
MISSENSE |
NM_012186:p.Pro149Ser |
Ccc/Tcc |
|
Het |
0 damaging |
0.999 probably damaging |
1 |
NA |
| HSF4 |
MISSENSE |
NM_001040667:p.Pro60His |
cCc/cAc |
|
Het |
0 damaging |
1.000 probably damaging |
1 |
NA |
| MYOC |
MISSENSE |
NM_000261:p.Leu215Pro |
cTg/cCg |
|
Het |
0 damaging |
1.000 probably damaging |
1 |
0.000578 |
| NHS |
NONSENSE |
NM_198270:p.Arg248* |
Cga/Tga |
|
Het |
N/A |
|
1 |
NA |
| NHS |
NONSENSE |
NM_198270:p.Arg565* |
Cga/Tga |
|
Hom |
N/A |
|
1 |
NA |
| PAX6 |
NONSENSE |
NM_001604:p.Glu123* |
Gag/Tag |
|
Het |
N/A |
|
1 |
NA |
| SLC16A12 |
MISSENSE |
NM_213606:p.Asn333Asp |
Aat/Gat |
|
Het |
0 damaging |
1.000 probably damaging |
1 |
NA |
| TDRD7 |
MISSENSE |
NM_014290:p.Gln28Pro |
cAa/cCa |
|
Het |
0 damaging |
0.999 probably damaging |
1 |
0.000116 |
| WDR36 |
SPLICE_SITE
_DONOR |
NM_139281 |
|
|
Het |
N/A |
|
1 |
NA |
| WDR36 | MISSENSE | NM_139281:p.Arg703Gln | cGg/cAg | Het | N/A | 0.987 probably damaging | 1 | NA |