Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32307 | chr9 | 93308547 | CCCAGGCAGGCTGGG | C |
c.6481_6494del
|
p.Gln2161CysfsTer47
|
- | 4.0 |
|
B | |
| 17582 | chr9 | 93317617 | C | T |
c.6614C>T
|
p.Ser2205Phe
|
- | 3.0 |
|
B | |
| 22993 | chr9 | 95114632 | T | G |
c.1151A>C
|
p.His384Pro
|
- | 3.0 |
|
B | |
| 9630 | chr9 | 95114645 | C | T |
c.1138G>A
|
p.Glu380Lys
|
- | 3.0 |
|
B | |
| 10003 | chr9 | 95117347 | G | A |
c.1040C>T
|
p.Ser347Phe
|
- | 3.0 |
|
B | |
| 9531 | chr9 | 95117353 | G | C |
c.1034C>G
|
p.Ser345Cys
|
- | 3.0 |
|
B | |
| 10782 | chr9 | 95126547 | A | T |
c.878T>A
|
p.Val293Asp
|
- | 3.0 |
|
B | |
| 10783 | chr9 | 95126548 | C | T |
c.877G>A
|
p.Val293Ile
|
- | 3.0 |
|
B | |
| 27304 | chr9 | 95135344 | A | G |
c.843+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 11860 | chr9 | 95149948 | C | G |
c.661G>C
|
p.Glu221Gln
|
- | 3.0 |
|
B | |
| 4414 | chr9 | 95172034 | C | T |
c.456+3G>A
|
-
|
- | 3.0 |
|
B | |
| 7992 | chr9 | 95172089 | G | A |
c.404C>T
|
p.Thr135Ile
|
- | 3.0 |
|
B | |
| 31732 | chr9 | 95247508 | A | C |
c.174T>G
|
p.Asn58Lys
|
- | 3.0 |
|
B | |
| 6895 | chr9 | 95249233 | G | A |
c.59C>T
|
p.Ser20Phe
|
- | 3.0 |
|
B | |
| 3794 | chr9 | 95249272 | T | G |
c.20A>C
|
p.Asp7Ala
|
3.0 |
|
B | ||
| 1277 | chr9 | 95249285 | G | T |
c.7C>A
|
p.Gln3Lys
|
- | 3.0 |
|
B | |
| 6068 | chr9 | 95447000 | C | T |
c.4256G>A
|
p.Arg1419Gln
|
2.0 |
|
B | ||
| 19073 | chr9 | 95447001 | G | A |
c.4255C>T
|
p.Arg1419Trp
|
3.0 |
|
B | ||
| 2706 | chr9 | 95447191 | AG | A |
c.4064del
|
p.Thr1355MetfsTer17
|
- | 4.0 |
|
B | |
| 23765 | chr9 | 95447208 | G | A |
c.4048C>T
|
p.Arg1350Trp
|
2.0 |
|
B |