Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31509 | chr19 | 6828652 | C | T |
c.1123C>T
|
p.Arg375Ter
|
- | 3.0 |
|
B | |
| 26158 | chr19 | 6828687 | C | T |
c.1158C>T
|
p.Phe386=
|
3.0 |
|
B | ||
| 25856 | chr19 | 6828907 | G | T |
c.1265+7G>T
|
-
|
- | 3.0 |
|
B | |
| 26159 | chr19 | 6829767 | G | A |
c.1266-19G>A
|
-
|
3.0 |
|
B | ||
| 30503 | chr19 | 6829802 | G | A |
c.1282G>A
|
p.Asp428Asn
|
- | 3.0 |
|
B | |
| 13051 | chr19 | 6829935 | G | A |
c.1398+17G>A
|
-
|
2.5 |
|
B | ||
| 22400 | chr19 | 6832082 | T | G |
c.1399-9T>G
|
-
|
- | 3.0 |
|
B | |
| 21732 | chr19 | 6833167 | T | A |
c.1509-17T>A
|
-
|
2.0 |
|
B | ||
| 26932 | chr19 | 6833174 | C | T |
c.1509-10C>T
|
-
|
3.0 |
|
B | ||
| 34854 | chr19 | 6833181 | C | A |
c.1509-3C>A
|
-
|
- | 3.0 |
|
B | |
| 11229 | chr19 | 6833264 | AGGCCTG | A |
c.1590_1595del
|
p.Lys530_Cys532delinsAsn
|
- | 3.0 |
|
B | |
| 32710 | chr19 | 6833266 | G | A |
c.1591G>A
|
p.Ala531Thr
|
- | 3.0 |
|
B | |
| 26492 | chr19 | 6833550 | C | T |
c.1633C>T
|
p.Arg545Cys
|
3.0 |
|
B | ||
| 12770 | chr19 | 6833598 | G | A |
c.1681G>A
|
p.Val561Ile
|
3.0 |
|
B | ||
| 12303 | chr19 | 6833635 | G | A |
c.1708+10G>A
|
-
|
- | 3.0 |
|
B | |
| 31594 | chr19 | 6836438 | C | T |
c.1784C>T
|
p.Pro595Leu
|
- | 3.0 |
|
B | |
| 28076 | chr19 | 6836515 | C | A |
c.1861C>A
|
p.Pro621Thr
|
- | 3.0 |
|
B | |
| 32887 | chr19 | 6836525 | T | C |
c.1871T>C
|
p.Ile624Thr
|
3.0 |
|
B | ||
| 32421 | chr19 | 6836549 | CTG | C |
c.1896_1897del
|
p.Glu633ThrfsTer12
|
- | 3.0 |
|
B | |
| 23102 | chr19 | 6850746 | C | T |
c.2206C>T
|
p.Arg736Trp
|
3.0 |
|
B |