Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25648 | chr19 | 10920900 | G | A |
c.1491G>A
-
|
p.Trp497Ter
-
|
- | 3.0 |
|
B | |
| 16891 | chr19 | 10921371 | G | A |
c.1616-4G>A
-
|
-
-
|
3.0 |
|
B | ||
| 28870 | chr19 | 10921711 | C | T |
c.1781C>T
-
|
p.Ala594Val
-
|
3.0 |
|
B | ||
| 4025 | chr19 | 10984219 | C | T |
c.68C>T
|
p.Ser23Phe
|
- | 3.0 |
|
B | |
| 32971 | chr19 | 10984297 | C | T |
c.146C>T
|
p.Pro49Leu
|
3.0 |
|
B | ||
| 27195 | chr19 | 10985262 | C | T |
c.223-11C>T
|
-
|
- | 2.0 |
|
B | |
| 29007 | chr19 | 10985277 | T | A |
c.227T>A
|
p.Met76Lys
|
- | 3.0 |
|
B | |
| 31303 | chr19 | 10985355 | GC | G |
c.307del
|
p.His103MetfsTer200
|
- | 4.0 |
|
B | |
| 25319 | chr19 | 10986270 | C | T |
c.437C>T
|
p.Ser146Phe
|
3.0 |
|
B | ||
| 19836 | chr19 | 10986407 | A | AG |
c.579dup
|
p.Gln194AlafsTer93
|
- | 4.0 |
|
B | |
| 5810 | chr19 | 10986441 | C | T |
c.608C>T
|
p.Ala203Val
|
3.0 |
|
B | ||
| 27369 | chr19 | 10986555 | G | A |
c.722G>A
|
p.Gly241Asp
|
- | 3.0 |
|
B | |
| 29909 | chr19 | 10986563 | C | T |
c.730C>T
|
p.Pro244Ser
|
- | 3.0 |
|
B | |
| 24031 | chr19 | 10986568 | AC | A |
c.737del
|
p.Pro246LeufsTer57
|
- | 4.0 |
|
B | |
| 6861 | chr19 | 10986988 | A | T |
c.844A>T
|
p.Lys282Ter
|
- | 4.0 |
|
B | |
| 17406 | chr19 | 10987689 | C | T |
c.883C>T
|
p.Pro295Ser
|
3.0 |
|
B | ||
| 33760 | chr19 | 10987717 | C | T |
c.911C>T
|
p.Pro304Leu
|
- | 3.0 |
|
B | |
| 24264 | chr19 | 10987729 | C | T |
c.923C>T
|
p.Thr308Met
|
2.5 |
|
B | ||
| 10145 | chr19 | 10987746 | G | C |
c.940G>C
|
p.Ala314Pro
|
3.0 |
|
B | ||
| 19837 | chr19 | 10987748 | GC | G |
c.947del
|
p.Pro316LeufsTer10
|
- | 5.0 |
|
B |