rs137853086
|
1.000 |
|
2 |
165770217 |
stop gained |
G/A
|
snv
|
6.8E-05
|
2.0E-04
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
1.000 |
2 |
2004 |
2005 |
rs137853087
|
1.000 |
|
2 |
165749747 |
stop gained |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|
rs137853088
|
1.000 |
|
2 |
165759443 |
stop gained |
A/C
|
snv
|
|
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|
rs137853089
|
1.000 |
|
2 |
165755015 |
stop gained |
G/A
|
snv
|
|
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|
rs137853090
|
1.000 |
|
2 |
165761928 |
missense variant |
G/A;T
|
snv
|
2.4E-05;
8.0E-06
|
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|
rs137853091
|
1.000 |
|
2 |
165758862 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|
rs267606841
|
0.882 |
0.120 |
2 |
165749801 |
missense variant |
A/C
|
snv
|
|
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|
rs375879489
|
1.000 |
|
2 |
165754927 |
splice region variant |
C/G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|
rs745655924
|
1.000 |
|
2 |
165754931 |
splice donor variant |
C/T
|
snv
|
|
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|
rs760830864
|
1.000 |
|
2 |
165754626 |
splice donor variant |
C/A;T
|
snv
|
4.0E-06
|
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|
rs761396172
|
1.000 |
|
2 |
165765058 |
splice acceptor variant |
T/A;C
|
snv
|
2.8E-05;
1.6E-05;
2.4E-05
|
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|
rs766750282
|
1.000 |
|
2 |
165761939 |
frameshift variant |
-/G
|
delins
|
1.6E-05
|
7.0E-06
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|
rs775341386
|
1.000 |
|
2 |
165770196 |
stop gained |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|
rs786205250
|
1.000 |
|
2 |
165764895 |
frameshift variant |
G/-
|
del
|
|
|
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
|
|
0.700 |
|
0 |
|
|