Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11726 | chr21 | 34792566 | CGGGGAACT | C |
c.1004_1011del
|
p.Gln335ArgfsTer262
|
- | 4.0 |
|
B | |
| 15000 | chr21 | 34792577 | C | T |
c.1001G>A
|
p.Arg334His
|
- | 3.0 |
|
B | |
| 16349 | chr21 | 34792626 | G | A |
c.968-16C>T
|
-
|
2.5 |
|
B | ||
| 35369 | chr21 | 34799310 | G | A |
c.958C>T
|
p.Arg320Ter
|
4.5 |
|
B | ||
| 13655 | chr21 | 34799343 | C | T |
c.925G>A
|
p.Gly309Ser
|
3.0 |
|
B | ||
| 35476 | chr21 | 34799369 | G | A |
c.899C>T
|
p.Thr300Met
|
3.0 |
|
B | ||
| 12867 | chr21 | 34799425 | G | GT |
c.842dup
|
p.Tyr281Ter
|
- | 4.0 |
|
B | |
| 19356 | chr21 | 34834423 | CTG | C |
c.790_791del
|
p.Gln264GlufsTer335
|
- | 4.0 |
|
B | |
| 11501 | chr21 | 34834451 | T | G |
c.764A>C
|
p.His255Pro
|
- | 3.0 |
|
B | |
| 16948 | chr21 | 34834479 | T | C |
c.736A>G
|
p.Thr246Ala
|
3.0 |
|
B | ||
| 17359 | chr21 | 34834517 | CG | C |
c.697del
|
p.Arg233AlafsTer4
|
- | 4.0 |
|
B | |
| 9753 | chr21 | 34834527 | G | A |
c.688C>T
|
p.Gln230Ter
|
- | 4.0 |
|
B | |
| 2641 | chr21 | 34834544 | C | G |
c.671G>C
|
p.Arg224Pro
|
- | 3.0 |
|
B | |
| 24176 | chr21 | 34834566 | C | T |
c.649G>A
|
p.Gly217Arg
|
3.0 |
|
B | ||
| 26408 | chr21 | 34834593 | GC | G |
c.621del
|
p.Gln208ArgfsTer3
|
- | 4.0 |
|
B | |
| 27986 | chr21 | 34859467 | CACTTACTTCGAGGTTCT | C |
c.603_613+6del
|
p.?
|
- | 4.0 |
|
B | |
| 35370 | chr21 | 34859477 | G | A |
c.610C>T
|
p.Arg204Ter
|
4.5 |
|
B | ||
| 14514 | chr21 | 34859480 | G | A |
c.607C>T
|
p.Pro203Ser
|
- | 3.0 |
|
B | |
| 27395 | chr21 | 34859485 | C | T |
c.602G>A
|
p.Arg201Gln
|
3.5 |
|
B | ||
| 9146 | chr21 | 34859537 | G | A |
c.550C>T
|
p.Pro184Ser
|
- | 3.0 |
|
B |