Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30666 | chr19 | 39173081 | C | T |
c.368C>T
|
p.Thr123Ile
|
3.0 |
|
B | ||
| 22067 | chr19 | 39173123 | G | A |
c.410G>A
|
p.Arg137Gln
|
3.0 |
|
B | ||
| 13618 | chr19 | 39173780 | C | T |
c.868C>T
|
p.Arg290Cys
|
3.0 |
|
B | ||
| 15848 | chr19 | 39173991 | G | A |
c.1079G>A
|
p.Arg360His
|
3.0 |
|
B | ||
| 34047 | chr19 | 39174019 | G | C |
c.1098+9G>C
|
-
|
- | 3.0 |
|
B | |
| 13258 | chr19 | 39175457 | G | A |
c.1359+19G>A
|
-
|
- | 3.0 |
|
B | |
| 19842 | chr19 | 39176570 | C | G |
c.1360-20C>G
|
-
|
- | 3.0 |
|
B | |
| 25677 | chr19 | 39176696 | G | A |
c.1466G>A
|
p.Arg489His
|
3.0 |
|
B | ||
| 15602 | chr19 | 39177757 | C | T |
c.1568C>T
|
p.Ala523Val
|
- | 3.0 |
|
B | |
| 13440 | chr19 | 39499184 | C | T |
c.70-8C>T
|
-
|
2.0 |
|
B | ||
| 32296 | chr19 | 39499185 | G | C |
c.70-7G>C
|
-
|
- | 3.0 |
|
B | |
| 20177 | chr19 | 39499276 | G | A |
c.154G>A
|
p.Ala52Thr
|
- | 3.0 |
|
B | |
| 7313 | chr19 | 39499371 | G | A |
c.249G>A
|
p.Leu83=
|
3.0 |
|
B | ||
| 15218 | chr19 | 39499443 | C | G |
c.321C>G
|
p.Leu107=
|
- | 3.0 |
|
B | |
| 9571 | chr19 | 39502848 | G | T |
c.443G>T
|
p.Gly148Val
|
- | 3.0 |
|
B | |
| 30521 | chr19 | 39507273 | G | T |
c.1328G>T
|
p.Arg443Leu
|
- | 3.0 |
|
B | |
| 9709 | chr19 | 40233891 | G | T |
c.1427C>A
|
p.Ser476Ter
|
- | 3.0 |
|
B | |
| 16476 | chr19 | 40235019 | C | T |
c.1366+26G>A
|
-
|
3.0 |
|
B | ||
| 32754 | chr19 | 40235153 | G | A |
c.1264-6C>T
|
-
|
3.0 |
|
B | ||
| 32510 | chr19 | 40235167 | A | C |
c.1264-20T>G
|
-
|
- | 3.0 |
|
B |