Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30148 | chr9 | 8486058 | C | T |
c.2759G>A
|
p.Gly920Glu
|
- | 3.0 |
|
B | |
| 7841 | chr9 | 8486061 | G | T |
c.2756C>A
|
p.Thr919Asn
|
3.0 |
|
B | ||
| 13761 | chr9 | 8486077 | G | C |
c.2740C>G
|
p.Pro914Ala
|
- | 3.0 |
|
B | |
| 23797 | chr9 | 8486082 | G | A |
c.2735C>T
|
p.Ser912Phe
|
- | 3.0 |
|
B | |
| 5716 | chr9 | 8486249 | G | T |
c.2568C>A
|
p.Tyr856Ter
|
- | 4.0 |
|
B | |
| 14710 | chr9 | 8486334 | C | T |
c.2483G>A
|
p.Arg828Gln
|
3.0 |
|
B | ||
| 21317 | chr9 | 8492980 | C | A |
c.2350-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 22141 | chr9 | 8497259 | C | G |
c.2332G>C
|
p.Asp778His
|
- | 3.0 |
|
B | |
| 25715 | chr9 | 8499641 | G | A |
c.2322+6C>T
|
-
|
3.0 |
|
B | ||
| 5715 | chr9 | 8499775 | A | G |
c.2194T>C
|
p.Trp732Arg
|
- | 3.0 |
|
B | |
| 10377 | chr9 | 8499814 | C | T |
c.2155G>A
|
p.Glu719Lys
|
3.0 |
|
B | ||
| 23869 | chr9 | 8499817 | C | A |
c.2152G>T
|
p.Val718Phe
|
- | 3.0 |
|
B | |
| 13919 | chr9 | 8500754 | C | T |
c.2128G>A
|
p.Val710Ile
|
- | 3.5 |
|
B | |
| 12823 | chr9 | 8500885 | G | A |
c.1997C>T
|
p.Pro666Leu
|
3.0 |
|
B | ||
| 17313 | chr9 | 8500976 | C | T |
c.1906G>A
|
p.Glu636Lys
|
3.0 |
|
B | ||
| 2069 | chr9 | 8500992 | C | T |
c.1890G>A
|
p.Trp630Ter
|
- | 4.0 |
|
B | |
| 3900 | chr9 | 8504281 | G | A |
c.1802C>T
|
p.Ser601Leu
|
3.0 |
|
B | ||
| 16333 | chr9 | 8504421 | G | A |
c.1678-16C>T
|
-
|
3.0 |
|
B | ||
| 31914 | chr9 | 8507287 | C | A |
c.1677+14G>T
|
-
|
- | 3.0 |
|
B | |
| 6418 | chr9 | 8507297 | T | A |
c.1677+4A>T
|
-
|
- | 3.5 |
|
B |