Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30658 | chr17 | 39792653 | G | A |
c.424+20C>T
|
-
|
- | 3.0 |
|
B | |
| 12395 | chr17 | 39829370 | TG | T |
c.163+16del
|
-
|
- | 3.0 |
|
B | |
| 16533 | chr17 | 39829446 | T | G |
c.104A>C
|
p.His35Pro
|
3.0 |
|
B | ||
| 15480 | chr17 | 39829479 | G | A |
c.71C>T
|
p.Ala24Val
|
2.5 |
|
B | ||
| 24507 | chr17 | 39832137 | C | T |
c.22G>A
|
p.Ala8Thr
|
- | 3.0 |
|
B | |
| 6145 | chr17 | 40331244 | C | T |
c.26C>T
|
p.Pro9Leu
|
3.0 |
|
B | ||
| 9681 | chr17 | 40332009 | T | G |
c.178+613T>G
|
-
|
- | 3.0 |
|
B | |
| 24534 | chr17 | 40332234 | G | A |
c.178+838G>A
|
-
|
3.0 |
|
B | ||
| 19900 | chr17 | 40340121 | AC | A |
c.179-8188del
|
-
|
3.0 |
|
B | ||
| 29730 | chr17 | 40341159 | G | C |
c.179-7157G>C
|
-
|
- | 3.0 |
|
B | |
| 11890 | chr17 | 40341164 | C | T |
c.179-7152C>T
|
-
|
- | 3.0 |
|
B | |
| 22107 | chr17 | 40341629 | T | G |
c.179-6687T>G
|
-
|
3.0 |
|
B | ||
| 10833 | chr17 | 40341881 | CCCCTCCTCTCCCTGTACT | C |
c.179-6433_179-6416del
|
-
|
- | 3.0 |
|
B | |
| 11902 | chr17 | 40342345 | C | T |
c.179-5971C>T
|
-
|
- | 3.0 |
|
B | |
| 15106 | chr17 | 40342405 | G | A |
c.179-5911G>A
|
-
|
- | 3.0 |
|
B | |
| 25546 | chr17 | 40342461 | G | A |
c.179-5855G>A
|
-
|
- | 3.0 |
|
B | |
| 26153 | chr17 | 40342471 | A | AC |
c.179-5838dup
|
-
|
3.0 |
|
B | ||
| 5144 | chr17 | 40342843 | CCGCTT | C |
c.179-5472_179-5468del
|
-
|
- | 3.0 |
|
B | |
| 10895 | chr17 | 40343285 | C | T |
c.179-5031C>T
|
-
|
- | 3.0 |
|
B | |
| 16268 | chr17 | 40343553 | G | A |
c.179-4763G>A
|
-
|
- | 3.0 |
|
B |