Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17239 | chr2 | 219572591 | G | A |
-
c.217G>A
|
-
p.Glu73Lys
|
- | 3.0 |
|
B | |
| 26222 | chr2 | 219572617 | C | T |
-
c.243C>T
|
-
p.Ser81=
|
- | 3.0 |
|
B | |
| 16644 | chr2 | 219574921 | C | A |
-
c.496C>A
|
-
p.Pro166Thr
|
- | 3.0 |
|
B | |
| 30086 | chr2 | 219574954 | G | A |
-
c.529G>A
|
-
p.Ala177Thr
|
- | 3.0 |
|
B | |
| 30509 | chr2 | 219574978 | GCT | G |
-
c.562_563del
|
-
p.Leu188AlafsTer22
|
- | 3.5 |
|
B | |
| 18975 | chr2 | 219575002 | G | A |
-
c.577G>A
|
-
p.Val193Ile
|
3.0 |
|
B | ||
| 25046 | chr2 | 219575464 | G | A |
-
c.1039G>A
|
-
p.Gly347Ser
|
- | 3.0 |
|
B | |
| 7291 | chr2 | 222202102 | G | C |
c.1262C>G
|
p.Pro421Arg
|
- | 3.0 |
|
B | |
| 32714 | chr2 | 222202210 | G | T |
c.1174-20C>A
|
-
|
- | 3.0 |
|
B | |
| 29318 | chr2 | 222220165 | G | A |
c.1148C>T
|
p.Thr383Ile
|
3.0 |
|
B | ||
| 31538 | chr2 | 222220195 | G | A |
c.1118C>T
|
p.Pro373Leu
|
2.0 |
|
B | ||
| 34667 | chr2 | 222221297 | G | T |
c.883C>A
|
p.Pro295Thr
|
- | 3.0 |
|
B | |
| 33884 | chr2 | 222221306 | C | T |
c.874G>A
|
p.Gly292Arg
|
3.0 |
|
B | ||
| 18976 | chr2 | 222221368 | C | T |
c.812G>A
|
p.Arg271His
|
3.5 |
|
B | ||
| 11408 | chr2 | 222221375 | T | G |
c.805A>C
|
p.Asn269His
|
- | 3.0 |
|
B | |
| 28740 | chr2 | 222294309 | C | T |
c.452-8G>A
|
-
|
3.0 |
|
B | ||
| 17240 | chr2 | 222294320 | A | T |
c.452-19T>A
|
-
|
- | 3.0 |
|
B | |
| 28308 | chr2 | 222295541 | GT | G |
c.437del
|
p.Asn146ThrfsTer6
|
- | 3.0 |
|
B | |
| 20297 | chr2 | 222296960 | C | T |
c.321+18G>A
|
-
|
- | 3.0 |
|
B | |
| 19551 | chr2 | 222296968 | G | A |
c.321+10C>T
|
-
|
3.0 |
|
B |