Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3322 | chr19 | 1556176 | G | A |
c.1343C>T
|
p.Pro448Leu
|
- | 3.0 |
|
B | |
| 5948 | chr19 | 1611721 | C | A |
c.1951G>T
|
p.Ala651Ser
|
- | 3.0 |
|
B | |
| 22055 | chr19 | 1611749 | G | C |
c.1923C>G
|
p.His641Gln
|
- | 3.0 |
|
B | |
| 23383 | chr19 | 1615274 | C | A |
c.1822+11G>T
|
-
|
- | 3.0 |
|
B | |
| 6793 | chr19 | 1615419 | C | T |
c.1688G>A
|
p.Arg563His
|
3.0 |
|
B | ||
| 18339 | chr19 | 1615420 | G | A |
c.1687C>T
|
p.Arg563Cys
|
3.0 |
|
B | ||
| 6438 | chr19 | 1615432 | GCT | G |
c.1673_1674del
|
p.Glu558AlafsTer6
|
- | 3.5 |
|
B | |
| 6685 | chr19 | 1615702 | G | A |
c.1570C>T
|
p.Pro524Ser
|
- | 3.0 |
|
B | |
| 7548 | chr19 | 1615716 | T | C |
c.1556A>G
|
p.Lys519Arg
|
- | 3.0 |
|
B | |
| 20580 | chr19 | 1619439 | G | C |
c.1203C>G
|
p.Ile401Met
|
- | 3.0 |
|
B | |
| 31981 | chr19 | 1619491 | T | G |
c.1168-17A>C
|
-
|
3.0 |
|
B | ||
| 26830 | chr19 | 1619766 | G | A |
c.1167+14C>T
|
-
|
- | 3.0 |
|
B | |
| 5463 | chr19 | 1619779 | C | T |
c.1167+1G>A
|
p.?
|
4.0 |
|
B | ||
| 815 | chr19 | 1621020 | A | C |
c.1041T>G
|
p.Asn347Lys
|
- | 3.0 |
|
B | |
| 23534 | chr19 | 1622022 | GCCCACCCCCTGCCCCCTGCCCTGGGTCCTA | G |
c.822+2_822+31del
|
p.?
|
- | 3.5 |
|
B | |
| 17399 | chr19 | 1622334 | G | A |
c.631C>T
|
p.Pro211Ser
|
- | 3.0 |
|
B | |
| 18815 | chr19 | 1622349 | G | A |
c.616C>T
|
p.Pro206Ser
|
- | 3.0 |
|
B | |
| 963 | chr19 | 1623997 | G | T |
c.503C>A
|
p.Thr168Lys
|
- | 3.0 |
|
B | |
| 26831 | chr19 | 1625603 | G | A |
c.472C>T
|
p.Arg158Trp
|
3.0 |
|
B | ||
| 13123 | chr19 | 1625693 | C | G |
c.382G>C
|
p.Gly128Arg
|
- | 3.0 |
|
B |