Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28935 | chr21 | 44218215 | C | T |
-
|
-
|
- | 3.0 |
|
B | |
| 16535 | chr21 | 44229660 | G | C |
c.898+394C>G
|
-
|
3.0 |
|
B | ||
| 11896 | chr21 | 44229783 | G | A |
c.898+271C>T
|
-
|
3.0 |
|
B | ||
| 11897 | chr21 | 44229831 | C | T |
c.898+223G>A
|
-
|
2.5 |
|
B | ||
| 31943 | chr21 | 44231371 | C | A |
c.771G>T
|
p.Trp257Cys
|
- | 3.0 |
|
B | |
| 32591 | chr21 | 44231433 | C | T |
c.709G>A
|
p.Gly237Arg
|
3.0 |
|
B | ||
| 34660 | chr21 | 44235319 | A | C |
c.650T>G
|
p.Ile217Arg
|
- | 3.0 |
|
B | |
| 21351 | chr21 | 44235344 | G | A |
c.625C>T
|
p.Pro209Ser
|
- | 3.0 |
|
B | |
| 13039 | chr21 | 44235442 | T | A |
c.527A>T
|
p.Asp176Val
|
- | 3.0 |
|
B | |
| 26740 | chr21 | 44236891 | C | T |
c.382G>A
|
p.Val128Ile
|
2.0 |
|
B | ||
| 22973 | chr21 | 44236959 | G | A |
c.314C>T
|
p.Pro105Leu
|
3.0 |
|
B | ||
| 34306 | chr21 | 44237005 | C | T |
c.268G>A
|
p.Gly90Ser
|
2.5 |
|
B | ||
| 11092 | chr21 | 44237089 | C | T |
c.184G>A
|
p.Val62Met
|
- | 3.0 |
|
B | |
| 24655 | chr21 | 44238492 | G | A |
c.15-4C>T
|
-
|
- | 3.0 |
|
B | |
| 3326 | chr21 | 44591466 | CAG | C |
c.83-23463_83-23462del
c.1017_1018del
|
-
p.Val341PhefsTer?
|
- | 3.0 |
|
B | |
| 3760 | chr21 | 46411535 | A | T |
c.5462A>T
|
p.Gln1821Leu
|
3.0 |
|
B | ||
| 34525 | chr22 | 18858493 | A | G |
n.3364A>G
|
-
|
3.0 |
|
B | ||
| 19818 | chr22 | 19180240 | T | TA |
c.4904-3dup
-
|
-
-
|
3.0 |
|
B | ||
| 34319 | chr22 | 19180826 | C | G |
c.4828-20G>C
-
|
-
-
|
3.0 |
|
B | ||
| 12852 | chr22 | 19183446 | G | C |
c.4771C>G
-
|
p.Leu1591Val
-
|
- | 3.0 |
|
B |