Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19122 | chr19 | 50417868 | G | A |
c.3245G>A
-
|
p.Arg1082His
-
|
3.0 |
|
B | ||
| 24133 | chr19 | 50417969 | C | T |
c.*22C>T
-
|
-
-
|
2.0 |
|
B | ||
| 3747 | chr19 | 50662249 | C | T |
c.6202G>A
-
|
p.Ala2068Thr
-
|
3.0 |
|
B | ||
| 5232 | chr19 | 50854966 | C | A |
c.11C>A
|
p.Pro4Gln
|
3.0 |
|
B | ||
| 12344 | chr19 | 50979768 | A | C |
c.606+20T>G
|
-
|
- | 3.0 |
|
B | |
| 3748 | chr19 | 51125738 | T | A |
c.563T>A
|
p.Leu188Gln
|
- | 3.0 |
|
B | |
| 5233 | chr19 | 51643544 | AGTAGAT | A |
c.1135_1140del
|
p.Ile379_Tyr380del
|
- | 3.0 |
|
B | |
| 3749 | chr19 | 52013204 | T | C |
-
-
|
-
-
|
- | 3.0 |
|
B | |
| 30409 | chr19 | 52188794 | C | G |
-
|
-
|
- | 3.0 |
|
B | |
| 33933 | chr19 | 52190092 | C | T |
c.-5C>T
|
-
|
3.0 |
|
B | ||
| 7700 | chr19 | 52190122 | C | G |
c.26C>G
|
p.Ser9Trp
|
- | 3.0 |
|
B | |
| 26739 | chr19 | 52190287 | C | T |
c.78+113C>T
|
-
|
2.0 |
|
B | ||
| 13005 | chr19 | 52191042 | C | T |
c.78+868C>T
|
-
|
3.0 |
|
B | ||
| 21807 | chr19 | 52191127 | T | C |
c.78+953T>C
|
-
|
3.0 |
|
B | ||
| 21808 | chr19 | 52191131 | A | G |
c.78+957A>G
|
-
|
3.0 |
|
B | ||
| 3863 | chr19 | 52201936 | C | G |
c.79-8C>G
|
-
|
2.5 |
|
B | ||
| 23594 | chr19 | 52201938 | C | T |
c.79-6C>T
|
-
|
- | 3.0 |
|
B | |
| 9156 | chr19 | 52201964 | G | C |
c.99G>C
|
p.Lys33Asn
|
- | 3.0 |
|
B | |
| 7635 | chr19 | 52205999 | TG | T |
c.208del
|
p.Ala70GlnfsTer62
|
- | 4.0 |
|
B | |
| 33913 | chr19 | 52211264 | C | T |
c.275C>T
|
p.Pro92Leu
|
3.0 |
|
B |