Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32501 | chr11 | 119092416 | G | A |
-
c.664G>A
-
|
-
p.Val222Met
-
|
3.0 |
|
B | ||
| 772 | chr11 | 119092498 | C | T |
-
c.746C>T
-
|
-
p.Ala249Val
-
|
- | 3.0 |
|
B | |
| 16373 | chr11 | 119092506 | G | A |
-
c.754G>A
-
|
-
p.Ala252Thr
-
|
3.0 |
|
B | ||
| 25311 | chr11 | 119092791 | A | G |
-
c.805A>G
-
|
-
p.Thr269Ala
-
|
- | 3.0 |
|
B | |
| 25163 | chr11 | 119092829 | G | A |
-
c.825+18G>A
-
|
-
-
-
|
2.5 |
|
B | ||
| 24106 | chr11 | 119093034 | G | A |
-
c.912+13G>A
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 31855 | chr11 | 119093040 | G | A |
-
c.912+19G>A
-
|
-
-
-
|
2.0 |
|
B | ||
| 32188 | chr11 | 119206469 | G | A |
c.52G>A
|
p.Gly18Arg
|
- | 3.0 |
|
B | |
| 8756 | chr11 | 119232520 | G | A |
c.268G>A
|
p.Asp90Asn
|
- | 3.0 |
|
B | |
| 10313 | chr11 | 119232646 | C | T |
c.394C>T
|
p.Leu132Phe
|
- | 3.0 |
|
B | |
| 31288 | chr11 | 119271728 | T | A |
c.444-7T>A
|
-
|
- | 3.0 |
|
B | |
| 27494 | chr11 | 119273906 | A | T |
c.629A>T
|
p.His210Leu
|
- | 3.0 |
|
B | |
| 4253 | chr11 | 119273984 | T | C |
c.707T>C
|
p.Ile236Thr
|
- | 3.0 |
|
B | |
| 10554 | chr11 | 119274033 | C | A |
c.747+9C>A
|
-
|
- | 3.0 |
|
B | |
| 9635 | chr11 | 119274856 | T | A |
c.772T>A
|
p.Trp258Arg
|
- | 3.0 |
|
B | |
| 29243 | chr11 | 119274967 | C | T |
c.869+14C>T
|
-
|
2.0 |
|
B | ||
| 35337 | chr11 | 119276092 | A | C |
c.965A>C
|
p.Lys322Thr
|
- | 3.0 |
|
B | |
| 21528 | chr11 | 119277756 | G | T |
c.1008-1G>T
|
p.?
|
- | 3.5 |
|
B | |
| 19324 | chr11 | 119277763 | G | T |
c.1014G>T
|
p.Leu338Phe
|
- | 3.0 |
|
B | |
| 5302 | chr11 | 119277777 | G | A |
c.1028G>A
|
p.Arg343Gln
|
3.0 |
|
B |