Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27052 | chr15 | 41736185 | G | C |
c.3921G>C
|
p.Lys1307Asn
|
- | 3.0 |
|
B | |
| 2432 | chr15 | 41736471 | C | T |
c.4207C>T
|
p.Gln1403Ter
|
- | 3.5 |
|
B | |
| 26856 | chr15 | 41739900 | T | C |
c.4435-6T>C
|
-
|
- | 3.0 |
|
B | |
| 26147 | chr15 | 41739953 | G | A |
c.4482G>A
|
p.Met1494Ile
|
- | 3.0 |
|
B | |
| 12755 | chr15 | 41743080 | C | T |
c.5267C>T
|
p.Ser1756Phe
|
- | 3.0 |
|
B | |
| 7434 | chr15 | 41748861 | C | T |
c.5584C>T
|
p.Pro1862Ser
|
- | 3.0 |
|
B | |
| 1000 | chr15 | 41748870 | C | T |
c.5593C>T
|
p.Gln1865Ter
|
- | 3.5 |
|
B | |
| 10061 | chr15 | 41748919 | G | A |
c.5642G>A
|
p.Arg1881Gln
|
3.0 |
|
B | ||
| 35072 | chr15 | 41748927 | G | A |
c.5650G>A
|
p.Gly1884Arg
|
- | 3.0 |
|
B | |
| 11537 | chr15 | 41748935 | G | T |
c.5650+8G>T
|
-
|
- | 3.0 |
|
B | |
| 23598 | chr15 | 41749094 | C | T |
c.5651-17C>T
|
-
|
- | 3.0 |
|
B | |
| 10507 | chr15 | 41749102 | T | G |
c.5651-9T>G
|
-
|
- | 3.0 |
|
B | |
| 30378 | chr15 | 41749104 | A | C |
c.5651-7A>C
|
-
|
3.0 |
|
B | ||
| 20650 | chr15 | 41749105 | A | C |
c.5651-6A>C
|
-
|
3.0 |
|
B | ||
| 30998 | chr15 | 41749466 | G | C |
c.6006G>C
|
p.Lys2002Asn
|
- | 3.0 |
|
B | |
| 34487 | chr15 | 41749508 | G | T |
c.6048G>T
|
p.Gln2016His
|
- | 3.0 |
|
B | |
| 26037 | chr15 | 41749594 | C | A |
c.6134C>A
|
p.Ser2045Ter
|
- | 3.5 |
|
B | |
| 2538 | chr15 | 41749920 | C | T |
c.6460C>T
|
p.Gln2154Ter
|
- | 3.5 |
|
B | |
| 8872 | chr15 | 41750520 | G | A |
c.7060G>A
|
p.Asp2354Asn
|
- | 3.0 |
|
B | |
| 5819 | chr15 | 41750565 | GTGGATGTTGTTTCTGAC | G |
c.7107_7123del
|
p.Asp2370ProfsTer3
|
- | 4.0 |
|
B |