Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14309 | chr19 | 34194495 | G | A |
c.139G>A
|
p.Glu47Lys
|
- | 3.0 |
|
B | |
| 14310 | chr19 | 34194498 | G | A |
c.142G>A
|
p.Asp48Asn
|
- | 3.0 |
|
B | |
| 23297 | chr19 | 34194621 | C | G |
c.265C>G
|
p.Gln89Glu
|
3.0 |
|
B | ||
| 14311 | chr19 | 34194648 | G | A |
c.285+7G>A
|
-
|
- | 3.0 |
|
B | |
| 23536 | chr19 | 34196690 | CG | C |
c.344del
|
p.Gly115AlafsTer14
|
- | 3.0 |
|
B | |
| 14762 | chr19 | 34196732 | A | T |
c.384A>T
|
p.Leu128Phe
|
- | 3.0 |
|
B | |
| 29763 | chr19 | 34208922 | CTT | C |
c.416-5_416-4del
|
-
|
- | 3.0 |
|
B | |
| 26993 | chr19 | 34209013 | C | T |
c.500C>T
|
p.Thr167Ile
|
3.0 |
|
B | ||
| 35616 | chr19 | 34209050 | A | C |
c.537A>C
|
p.Gln179His
|
- | 3.0 |
|
B | |
| 21578 | chr19 | 34209064 | A | C |
c.538+13A>C
|
-
|
- | 3.0 |
|
B | |
| 31420 | chr19 | 34215657 | A | C |
c.777A>C
|
p.Gln259His
|
3.0 |
|
B | ||
| 29874 | chr19 | 34219491 | AGACTTT | A |
c.891_896del
|
p.Asp297_Phe298del
|
- | 3.0 |
|
B | |
| 29764 | chr19 | 34219492 | G | A |
c.883G>A
|
p.Asp295Asn
|
- | 3.0 |
|
B | |
| 15217 | chr19 | 34221536 | G | T |
c.1166G>T
|
p.Arg389Ile
|
- | 3.0 |
|
B | |
| 4552 | chr19 | 35009193 | C | T |
c.83C>T
|
p.Pro28Leu
|
- | 3.0 |
|
B | |
| 9182 | chr19 | 35719544 | G | A |
c.436+3G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 7668 | chr19 | 35719807 | C | T |
c.460C>T
-
|
p.Arg154Cys
-
|
3.0 |
|
B | ||
| 21977 | chr19 | 35719841 | G | A |
c.494G>A
-
|
p.Arg165His
-
|
2.0 |
|
B | ||
| 1657 | chr19 | 35719861 | A | AC |
c.521dup
-
|
p.Thr176AspfsTer8
-
|
3.5 |
|
B | ||
| 19839 | chr19 | 35719861 | AC | A |
c.521del
-
|
p.Pro174GlnfsTer20
-
|
4.0 |
|
B |