Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8630 | chr19 | 38460380 | G | T |
c.2366G>T
|
p.Arg789Leu
|
- | 3.0 |
|
B | |
| 25649 | chr19 | 38460425 | C | T |
c.2411C>T
|
p.Pro804Leu
|
3.0 |
|
B | ||
| 26161 | chr19 | 38460478 | C | T |
c.2464C>T
|
p.Leu822Phe
|
- | 3.0 |
|
B | |
| 1054 | chr19 | 38460502 | C | T |
c.2488C>T
|
p.Arg830Trp
|
2.5 |
|
B | ||
| 9522 | chr19 | 38460559 | G | A |
c.2545G>A
|
p.Asp849Asn
|
2.0 |
|
B | ||
| 34353 | chr19 | 38463403 | G | A |
c.2578-20G>A
|
-
|
- | 3.0 |
|
B | |
| 24111 | chr19 | 38463490 | C | T |
c.2645C>T
|
p.Ala882Val
|
3.0 |
|
B | ||
| 31306 | chr19 | 38463493 | T | C |
c.2648T>C
|
p.Leu883Pro
|
- | 3.0 |
|
B | |
| 27505 | chr19 | 38463540 | C | T |
c.2682+13C>T
|
-
|
2.5 |
|
B | ||
| 16198 | chr19 | 38463869 | C | G |
c.2786+19C>G
|
-
|
3.0 |
|
B | ||
| 28278 | chr19 | 38464659 | G | A |
c.2807G>A
|
p.Cys936Tyr
|
- | 3.0 |
|
B | |
| 3953 | chr19 | 38466143 | C | T |
c.2923C>T
|
p.Arg975Trp
|
3.0 |
|
B | ||
| 34492 | chr19 | 38466224 | C | T |
c.3004C>T
|
p.Gln1002Ter
|
- | 3.0 |
|
B | |
| 27026 | chr19 | 38466267 | G | A |
c.3047G>A
|
p.Arg1016Gln
|
3.0 |
|
B | ||
| 21940 | chr19 | 38467610 | G | T |
c.3179G>T
|
p.Ser1060Ile
|
- | 3.0 |
|
B | |
| 25745 | chr19 | 38467646 | G | A |
c.3215G>A
|
p.Arg1072His
|
3.0 |
|
B | ||
| 31426 | chr19 | 38467730 | G | A |
c.3299G>A
|
p.Arg1100His
|
3.0 |
|
B | ||
| 10866 | chr19 | 38467803 | TG | T |
c.3375del
|
p.His1126ThrfsTer26
|
- | 3.0 |
|
B | |
| 7408 | chr19 | 38468965 | G | A |
c.3382-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 5524 | chr19 | 38469003 | G | T |
c.3419G>T
|
p.Arg1140Leu
|
- | 3.0 |
|
B |