Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24102 | chr9 | 132897255 | C | A |
c.2904G>T
|
p.Arg968Ser
|
- | 3.0 |
|
B | |
| 10004 | chr9 | 132897513 | C | T |
c.2723G>A
|
p.Arg908Gln
|
2.0 |
|
B | ||
| 842 | chr9 | 132897525 | G | A |
c.2711C>T
|
p.Thr904Ile
|
3.0 |
|
B | ||
| 5427 | chr9 | 132897556 | G | T |
c.2680C>A
|
p.His894Asn
|
- | 3.0 |
|
B | |
| 5299 | chr9 | 132897558 | C | T |
c.2678G>A
|
p.Ser893Asn
|
- | 3.0 |
|
B | |
| 362 | chr9 | 132897559 | TTC | T |
c.2675_2676del
|
p.Arg892LysfsTer11
|
5.0 |
|
B | ||
| 12100 | chr9 | 132897563 | G | GT |
c.2672dup
|
p.Asn891LysfsTer13
|
4.0 |
|
B | ||
| 31866 | chr9 | 132897563 | GT | G |
c.2672del
|
p.Asn891ThrfsTer40
|
4.5 |
|
B | ||
| 363 | chr9 | 132897612 | T | C |
c.2626-2A>G
|
p.?
|
4.67 |
|
A | ||
| 18356 | chr9 | 132900712 | T | A |
c.2625+3A>T
|
-
|
- | 3.5 |
|
B | |
| 31820 | chr9 | 132900728 | G | A |
c.2612C>T
|
p.Ser871Leu
|
3.0 |
|
B | ||
| 24103 | chr9 | 132900833 | G | C |
c.2507C>G
|
p.Ser836Ter
|
5.0 |
|
B | ||
| 27152 | chr9 | 132901587 | A | G |
c.2502+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 28376 | chr9 | 132901687 | C | A |
c.2404G>T
|
p.Asp802Tyr
|
- | 3.0 |
|
B | |
| 18493 | chr9 | 132902592 | C | T |
c.2391+13G>A
|
-
|
- | 2.5 |
|
B | |
| 1564 | chr9 | 132903725 | G | T |
c.2134C>A
|
p.His712Asn
|
- | 3.0 |
|
B | |
| 11354 | chr9 | 132903743 | G | A |
c.2116C>T
|
p.Arg706Cys
|
3.0 |
|
B | ||
| 364 | chr9 | 132903785 | G | A |
c.2074C>T
|
p.Arg692Ter
|
5.0 |
|
A | ||
| 12880 | chr9 | 132903800 | C | T |
c.2059G>A
|
p.Glu687Lys
|
- | 3.0 |
|
B | |
| 6498 | chr9 | 132903801 | A | C |
c.2058T>G
|
p.Asp686Glu
|
- | 3.0 |
|
B |