Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14555 | chr9 | 2039796 | A | C |
c.686A>C
|
p.Gln229Pro
|
3.0 |
|
B | ||
| 21820 | chr9 | 2039945 | G | A |
c.790+45G>A
|
-
|
2.0 |
|
B | ||
| 20678 | chr9 | 2047338 | C | T |
c.900C>T
|
p.Ala300=
|
- | 3.0 |
|
B | |
| 10985 | chr9 | 2056861 | G | GT |
c.1347+16_1347+17insT
|
-
|
1.0 |
|
B | ||
| 23706 | chr9 | 2058352 | C | T |
c.1409C>T
|
p.Ala470Val
|
- | 3.0 |
|
B | |
| 10001 | chr9 | 2058419 | G | C |
c.1476G>C
|
p.Lys492Asn
|
- | 3.0 |
|
B | |
| 26963 | chr9 | 2060808 | C | T |
c.1522-8C>T
|
-
|
3.0 |
|
B | ||
| 11414 | chr9 | 2070458 | G | A |
c.1733G>A
|
p.Gly578Glu
|
- | 3.0 |
|
B | |
| 20066 | chr9 | 2070481 | C | T |
c.1746+10C>T
|
-
|
2.0 |
|
B | ||
| 13357 | chr9 | 2073199 | C | T |
c.1747-13C>T
|
-
|
3.0 |
|
B | ||
| 3181 | chr9 | 2076278 | T | A |
c.1985T>A
|
p.Leu662Gln
|
3.0 |
|
B | ||
| 13937 | chr9 | 2081834 | C | T |
c.2187C>T
|
p.Leu729=
|
3.0 |
|
B | ||
| 23193 | chr9 | 2081979 | A | C |
c.2332A>C
|
p.Ile778Leu
|
- | 2.5 |
|
B | |
| 26097 | chr9 | 2086895 | C | T |
c.2593C>T
|
p.Gln865Ter
|
- | 4.0 |
|
B | |
| 6133 | chr9 | 2086970 | G | A |
c.2668G>A
|
p.Glu890Lys
|
- | 3.0 |
|
B | |
| 33343 | chr9 | 2086977 | G | A |
c.2675G>A
|
p.Trp892Ter
|
- | 4.0 |
|
B | |
| 24371 | chr9 | 2096741 | G | A |
c.2968G>A
|
p.Asp990Asn
|
- | 3.0 |
|
B | |
| 1787 | chr9 | 2104014 | A | G |
c.3137A>G
|
p.Tyr1046Cys
|
- | 3.0 |
|
B | |
| 9328 | chr9 | 2104046 | C | T |
c.3169C>T
|
p.Arg1057Cys
|
3.0 |
|
B | ||
| 7580 | chr9 | 2104079 | C | T |
c.3202C>T
|
p.Arg1068Ter
|
4.5 |
|
B |