Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11678 | chr9 | 5080215 | G | A |
c.2132-14G>A
|
-
|
3.0 |
|
B | ||
| 2362 | chr9 | 5080360 | A | C |
c.2263A>C
|
p.Ser755Arg
|
- | 3.0 |
|
B | |
| 8936 | chr9 | 5080379 | G | T |
c.2282G>T
|
p.Arg761Ile
|
3.0 |
|
B | ||
| 6827 | chr9 | 5080382 | T | A |
c.2283+2T>A
|
p.?
|
- | 3.0 |
|
B | |
| 3246 | chr9 | 5080626 | G | A |
c.2377G>A
|
p.Asp793Asn
|
- | 3.0 |
|
B | |
| 22893 | chr9 | 5080636 | C | T |
c.2387C>T
|
p.Pro796Leu
|
3.0 |
|
B | ||
| 7446 | chr9 | 5080681 | C | T |
c.2432C>T
|
p.Pro811Leu
|
- | 3.0 |
|
B | |
| 6619 | chr9 | 5089744 | T | C |
c.2642T>C
|
p.Val881Ala
|
- | 3.0 |
|
B | |
| 33975 | chr9 | 5089792 | G | GAT |
c.2690_2691insAT
|
p.Glu898TrpfsTer6
|
- | 3.0 |
|
B | |
| 33948 | chr9 | 5089796 | A | AGGAGGAGT |
c.2694_2695insGGAGGAGT
|
p.Ile899GlyfsTer7
|
- | 3.0 |
|
B | |
| 7786 | chr9 | 5090752 | T | G |
c.2900T>G
|
p.Leu967Arg
|
- | 3.0 |
|
B | |
| 13692 | chr9 | 5090902 | C | T |
c.3050C>T
|
p.Pro1017Leu
|
- | 3.0 |
|
B | |
| 29121 | chr9 | 5123001 | C | T |
c.3060-3C>T
|
-
|
3.0 |
|
B | ||
| 3018 | chr9 | 5126699 | A | T |
c.3307A>T
|
p.Thr1103Ser
|
- | 3.0 |
|
B | |
| 2412 | chr9 | 5126721 | T | C |
c.3329T>C
|
p.Val1110Ala
|
- | 3.0 |
|
B | |
| 1113 | chr9 | 5126730 | G | A |
c.3338G>A
|
p.Arg1113His
|
3.0 |
|
B | ||
| 10539 | chr9 | 5126759 | G | A |
c.3367G>A
|
p.Val1123Met
|
3.0 |
|
B | ||
| 34509 | chr9 | 5304578 | C | A |
c.3G>T
|
p.Met1?
|
3.0 |
|
B | ||
| 33652 | chr9 | 5462920 | C | T |
c.481C>T
|
p.Pro161Ser
|
- | 3.0 |
|
B | |
| 22042 | chr9 | 5465513 | C | T |
c.697C>T
|
p.His233Tyr
|
3.0 |
|
B |