Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13942 | chr2 | 140514791 | GA | G |
c.8150-20del
|
-
|
2.0 |
|
B | ||
| 131 | chr2 | 140516890 | A | C |
c.8148T>G
|
p.Cys2716Trp
|
- | 4.33 |
|
A | |
| 31883 | chr2 | 140525919 | G | T |
c.7951C>A
|
p.Leu2651Met
|
3.0 |
|
B | ||
| 35069 | chr2 | 140525980 | G | T |
c.7890C>A
|
p.Cys2630Ter
|
- | 4.0 |
|
B | |
| 17758 | chr2 | 140526226 | G | A |
c.7876+11C>T
|
-
|
- | 3.0 |
|
B | |
| 24839 | chr2 | 140526245 | T | C |
c.7868A>G
|
p.Lys2623Arg
|
3.0 |
|
B | ||
| 26789 | chr2 | 140526273 | T | C |
c.7840A>G
|
p.Ile2614Val
|
- | 3.0 |
|
B | |
| 12557 | chr2 | 140526311 | C | A |
c.7802G>T
|
p.Gly2601Val
|
- | 3.0 |
|
B | |
| 7510 | chr2 | 140526317 | G | T |
c.7796C>A
|
p.Ala2599Glu
|
3.0 |
|
B | ||
| 10371 | chr2 | 140534027 | A | C |
c.7756T>G
|
p.Cys2586Gly
|
- | 3.0 |
|
B | |
| 15912 | chr2 | 140534075 | A | C |
c.7708T>G
|
p.Leu2570Val
|
- | 3.0 |
|
B | |
| 7193 | chr2 | 140534095 | C | T |
c.7688G>A
|
p.Arg2563His
|
3.0 |
|
B | ||
| 22257 | chr2 | 140534099 | G | A |
c.7684C>T
|
p.Arg2562Cys
|
3.0 |
|
B | ||
| 7956 | chr2 | 140534125 | C | T |
c.7658G>A
|
p.Arg2553Gln
|
3.0 |
|
B | ||
| 30814 | chr2 | 140536564 | C | T |
c.7642+17G>A
|
-
|
3.0 |
|
B | ||
| 28410 | chr2 | 140536573 | A | G |
c.7642+8T>C
|
-
|
3.0 |
|
B | ||
| 13877 | chr2 | 140536673 | T | C |
c.7550A>G
|
p.Glu2517Gly
|
- | 3.0 |
|
B | |
| 20519 | chr2 | 140536682 | G | A |
c.7541C>T
|
p.Ser2514Leu
|
3.0 |
|
B | ||
| 9803 | chr2 | 140541011 | C | G |
c.7475G>C
|
p.Arg2492Thr
|
- | 3.0 |
|
B | |
| 30815 | chr2 | 140541827 | G | A |
c.7339C>T
|
p.Pro2447Ser
|
- | 3.0 |
|
B |