Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7079 | chr2 | 226795747 | G | A |
c.2992C>T
|
p.Arg998Cys
|
3.0 |
|
B | ||
| 18736 | chr2 | 226796142 | G | A |
c.2597C>T
|
p.Pro866Leu
|
3.0 |
|
B | ||
| 3781 | chr2 | 226796276 | G | A |
c.2463C>T
|
p.Cys821=
|
3.0 |
|
B | ||
| 9005 | chr2 | 226796354 | A | T |
c.2385T>A
|
p.Ser795=
|
- | 3.0 |
|
B | |
| 26459 | chr2 | 226796372 | G | C |
c.2367C>G
|
p.Leu789=
|
3.0 |
|
B | ||
| 5871 | chr2 | 226796376 | T | C |
c.2363A>G
|
p.His788Arg
|
- | 3.0 |
|
B | |
| 30087 | chr2 | 226796398 | C | T |
c.2341G>A
|
p.Glu781Lys
|
3.0 |
|
B | ||
| 1960 | chr2 | 226796595 | T | C |
c.2144A>G
|
p.Lys715Arg
|
- | 3.0 |
|
B | |
| 33166 | chr2 | 226796850 | C | T |
c.1889G>A
|
p.Gly630Glu
|
3.0 |
|
B | ||
| 22279 | chr2 | 226796921 | G | A |
c.1818C>T
|
p.Leu606=
|
3.0 |
|
B | ||
| 24735 | chr2 | 226796947 | G | GC |
c.1791dup
|
p.His598AlafsTer13
|
3.0 |
|
B | ||
| 1463 | chr2 | 226797253 | G | T |
c.1486C>A
|
p.Pro496Thr
|
- | 3.0 |
|
B | |
| 22222 | chr2 | 226797261 | C | T |
c.1478G>A
|
p.Arg493His
|
- | 3.0 |
|
B | |
| 1815 | chr2 | 226797635 | C | T |
c.1104G>A
|
p.Pro368=
|
3.0 |
|
B | ||
| 30043 | chr2 | 226797744 | C | T |
c.995G>A
|
p.Gly332Asp
|
- | 3.0 |
|
B | |
| 1075 | chr2 | 226798112 | C | G |
c.627G>C
|
p.Met209Ile
|
- | 3.0 |
|
B | |
| 13747 | chr2 | 226798114 | T | C |
c.625A>G
|
p.Met209Val
|
- | 3.0 |
|
B | |
| 846 | chr2 | 226798141 | C | G |
c.598G>C
|
p.Glu200Gln
|
- | 3.0 |
|
B | |
| 23455 | chr2 | 226798226 | C | A |
c.513G>T
|
p.Lys171Asn
|
- | 3.0 |
|
B | |
| 11598 | chr2 | 226798300 | C | T |
c.439G>A
|
p.Glu147Lys
|
3.0 |
|
B |