Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23172 | chr21 | 41505150 | ATTCACCT | A |
c.-57+2924_-57+2930del
|
-
|
- | 3.0 |
|
B | |
| 15608 | chr21 | 41505197 | G | A |
c.-57+2884C>T
|
-
|
3.0 |
|
B | ||
| 14393 | chr21 | 41505837 | C | T |
c.-57+2244G>A
|
-
|
- | 3.0 |
|
B | |
| 20432 | chr21 | 41505838 | C | A |
c.-57+2243G>T
|
-
|
- | 3.0 |
|
B | |
| 33358 | chr21 | 41506949 | C | T |
c.-57+1132G>A
|
-
|
3.0 |
|
B | ||
| 13695 | chr21 | 41507341 | A | G |
c.-57+740T>C
|
-
|
3.0 |
|
B | ||
| 12422 | chr21 | 41507476 | A | T |
c.-57+605T>A
|
-
|
1.0 |
|
B | ||
| 24078 | chr21 | 41507874 | C | T |
c.-57+207G>A
|
-
|
- | 3.0 |
|
B | |
| 3759 | chr21 | 41801254 | TCTG | T |
c.3409_3411del
|
p.Gln1137del
|
3.0 |
|
B | ||
| 3466 | chr21 | 42363292 | C | T |
c.201G>A
|
p.Trp67Ter
|
- | 3.0 |
|
B | |
| 20433 | chr21 | 43093171 | ACCACCG | A |
c.648_653del
|
p.Gly222_Gly223del
|
3.0 |
|
B | ||
| 27506 | chr21 | 43093187 | C | T |
c.638G>A
|
p.Gly213Asp
|
3.0 |
|
B | ||
| 23547 | chr21 | 43093217 | C | A |
c.608G>T
|
p.Arg203Leu
|
3.0 |
|
B | ||
| 33762 | chr21 | 43093260 | G | A |
c.576-11C>T
|
-
|
3.0 |
|
B | ||
| 13890 | chr21 | 43094519 | G | A |
c.527C>T
|
p.Pro176Leu
|
- | 3.0 |
|
B | |
| 9035 | chr21 | 43095489 | C | T |
c.297G>A
|
p.Met99Ile
|
- | 3.0 |
|
B | |
| 23371 | chr21 | 43095706 | A | C |
c.237T>G
|
p.Asp79Glu
|
- | 3.0 |
|
B | |
| 18743 | chr21 | 43101440 | GA | G |
c.133-922del
|
-
|
3.0 |
|
B | ||
| 27234 | chr21 | 43104346 | G | A |
c.101C>T
|
p.Ser34Phe
|
4.0 |
|
B | ||
| 4869 | chr21 | 44082848 | C | T |
c.1784C>T
|
p.Pro595Leu
|
3.0 |
|
B |