Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32204 | chr9 | 130863049 | G | C |
c.822+14G>C
|
-
|
- | 3.0 |
|
B | |
| 12575 | chr9 | 130872119 | C | A |
c.823-10C>A
|
-
|
- | 3.0 |
|
B | |
| 24398 | chr9 | 130873025 | A | C |
c.1073A>C
|
p.Asn358Thr
|
- | 3.0 |
|
B | |
| 33497 | chr9 | 130875020 | A | G |
c.1238A>G
|
p.Tyr413Cys
|
- | 3.0 |
|
B | |
| 811 | chr9 | 130878514 | G | A |
c.1370G>A
|
p.Arg457His
|
3.0 |
|
B | ||
| 6052 | chr9 | 130880083 | C | T |
c.1439C>T
|
p.Pro480Leu
|
3.0 |
|
B | ||
| 5250 | chr9 | 130880150 | C | G |
c.1506C>G
|
p.Ile502Met
|
- | 3.0 |
|
B | |
| 1232 | chr9 | 130880532 | C | T |
c.1546C>T
|
p.Arg516Cys
|
2.5 |
|
B | ||
| 3951 | chr9 | 130884139 | C | A |
c.1849C>A
|
p.Arg617Ser
|
- | 3.0 |
|
B | |
| 19572 | chr9 | 130884166 | G | A |
c.1876G>A
|
p.Gly626Ser
|
2.0 |
|
B | ||
| 13340 | chr9 | 130884215 | G | T |
c.1925G>T
|
p.Ser642Ile
|
- | 3.0 |
|
B | |
| 16367 | chr9 | 130884445 | G | A |
c.2155G>A
|
p.Ala719Thr
|
2.5 |
|
B | ||
| 34609 | chr9 | 130884691 | A | C |
c.2401A>C
|
p.Ile801Leu
|
- | 3.0 |
|
B | |
| 16368 | chr9 | 130884816 | A | C |
c.2526A>C
|
p.Leu842Phe
|
- | 3.0 |
|
B | |
| 18365 | chr9 | 130884832 | G | C |
c.2542G>C
|
p.Ala848Pro
|
- | 3.0 |
|
B | |
| 20364 | chr9 | 130885155 | CA | C |
c.2870del
|
p.Lys957SerfsTer112
|
- | 3.0 |
|
B | |
| 7174 | chr9 | 130885377 | G | C |
c.3087G>C
|
p.Lys1029Asn
|
- | 3.0 |
|
B | |
| 5333 | chr9 | 130885437 | G | C |
c.3147G>C
|
p.Gln1049His
|
- | 3.0 |
|
B | |
| 34610 | chr9 | 130885446 | C | G |
c.3156C>G
|
p.Ser1052Arg
|
- | 3.0 |
|
B | |
| 32398 | chr9 | 130885492 | G | C |
c.3202G>C
|
p.Val1068Leu
|
3.0 |
|
B |