rs370343781
|
0.882 |
0.120 |
20 |
63687765 |
missense variant |
G/T
|
snv
|
4.9E-05
|
7.0E-06
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.800 |
1.000 |
8 |
2009 |
2016 |
rs398123018
|
0.925 |
0.120 |
20 |
63693160 |
missense variant |
C/A;G;T
|
snv
|
1.2E-05;
4.0E-06;
4.0E-05
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.800 |
1.000 |
6 |
2013 |
2017 |
rs201540674
|
0.851 |
0.160 |
20 |
63695619 |
missense variant |
G/A
|
snv
|
1.6E-04
|
7.7E-05
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
6 |
2013 |
2015 |
rs1470145133
|
1.000 |
|
20 |
63693183 |
missense variant |
T/G
|
snv
|
4.0E-06
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
5 |
2013 |
2013 |
rs398123016
|
1.000 |
|
20 |
63690161 |
missense variant |
G/T
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
5 |
2013 |
2013 |
rs398123017
|
0.851 |
0.160 |
20 |
63693211 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06;
3.2E-05
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
5 |
2013 |
2017 |
rs398123019
|
1.000 |
|
20 |
63672607 |
missense variant |
G/A
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
5 |
2013 |
2013 |
rs373740199
|
0.851 |
0.120 |
20 |
63693247 |
stop gained |
C/A;T
|
snv
|
8.0E-06;
7.2E-05
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
1.000 |
4 |
2013 |
2017 |
rs1161373315
|
1.000 |
|
20 |
63662876 |
stop gained |
C/A;T
|
snv
|
|
7.0E-06
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1263776141
|
1.000 |
|
20 |
63689639 |
frameshift variant |
-/G
|
delins
|
|
7.0E-06
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1415449695
|
1.000 |
|
20 |
63694761 |
stop gained |
C/G;T
|
snv
|
|
7.0E-06
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1421904176
|
1.000 |
|
20 |
63693004 |
splice donor variant |
G/T
|
snv
|
4.0E-06
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1449687529
|
0.882 |
0.120 |
20 |
63692960 |
frameshift variant |
C/-
|
delins
|
|
7.0E-06
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555811386
|
1.000 |
|
20 |
63688138 |
splice acceptor variant |
G/A
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555811742
|
1.000 |
|
20 |
63689581 |
frameshift variant |
-/C
|
delins
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555811966
|
1.000 |
|
20 |
63690212 |
splice donor variant |
T/A
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555812178
|
1.000 |
|
20 |
63690803 |
splice acceptor variant |
A/G
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555812228
|
1.000 |
|
20 |
63690922 |
frameshift variant |
G/-
|
delins
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555812480
|
1.000 |
|
20 |
63691819 |
frameshift variant |
C/-
|
delins
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555812834
|
1.000 |
|
20 |
63692803 |
splice acceptor variant |
A/C
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555813123
|
1.000 |
|
20 |
63693149 |
frameshift variant |
A/-
|
del
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555813144
|
1.000 |
|
20 |
63693172 |
stop gained |
A/T
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555814044
|
1.000 |
|
20 |
63694478 |
frameshift variant |
-/C
|
delins
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555814334
|
1.000 |
|
20 |
63694961 |
frameshift variant |
C/-
|
delins
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|
rs1555899932
|
0.925 |
|
20 |
63662886 |
stop gained |
G/T
|
snv
|
|
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
|
0 |
|
|