Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31039 | chr9 | 95516746 | T | G |
c.75A>C
|
p.Pro25=
|
3.0 |
|
B | ||
| 21002 | chr9 | 95516748 | G | A |
c.73C>T
|
p.Pro25Ser
|
- | 3.0 |
|
B | |
| 3313 | chr9 | 97211372 | C | T |
n.321+1G>A
|
-
|
- | 3.0 |
|
B | |
| 9385 | chr9 | 97330687 | G | A |
c.2194G>A
|
p.Glu732Lys
|
- | 3.0 |
|
B | |
| 3578 | chr9 | 97350555 | G | A |
c.3002G>A
|
p.Arg1001Lys
|
- | 3.0 |
|
B | |
| 3409 | chr9 | 97625963 | G | A |
c.200C>T
|
p.Pro67Leu
|
- | 3.0 |
|
B | |
| 9319 | chr9 | 97675462 | C | T |
-
c.799G>A
|
-
p.Glu267Lys
|
3.0 |
|
B | ||
| 6388 | chr9 | 97685010 | T | C |
c.586A>G
|
p.Ser196Gly
|
- | 3.0 |
|
B | |
| 24305 | chr9 | 97689626 | TTCCATAAC | T |
c.289_296del
|
p.Val97IlefsTer2
|
- | 4.0 |
|
B | |
| 25342 | chr9 | 97693629 | T | A |
c.283+20A>T
|
-
|
- | 3.0 |
|
B | |
| 32283 | chr9 | 97853929 | C | A |
c.15C>A
|
p.Ser5Arg
|
- | 3.0 |
|
B | |
| 13304 | chr9 | 97853980 | C | T |
c.66C>T
|
p.Arg22=
|
- | 3.0 |
|
B | |
| 27291 | chr9 | 97854029 | G | A |
c.115G>A
|
p.Gly39Arg
|
3.0 |
|
B | ||
| 9476 | chr9 | 97854041 | C | T |
c.127C>T
|
p.Arg43Trp
|
- | 3.0 |
|
B | |
| 7737 | chr9 | 97854046 | C | G |
c.132C>G
|
p.Arg44=
|
- | 3.0 |
|
B | |
| 2092 | chr9 | 97854121 | G | A |
c.207G>A
|
p.Ala69=
|
- | 3.0 |
|
B | |
| 31522 | chr9 | 97854507 | C | T |
c.593C>T
|
p.Ala198Val
|
- | 3.0 |
|
B | |
| 29503 | chr9 | 97854620 | CTGGGGCCCGCACCGTCGGGGCCCGGCGGCTCTTGCG | C |
c.707_742del
|
p.Leu236_Ala248delinsPro
|
- | 3.0 |
|
B | |
| 18677 | chr9 | 97854760 | G | A |
c.846G>A
|
p.Ala282=
|
1.0 |
|
B | ||
| 2478 | chr9 | 97854830 | C | T |
c.916C>T
|
p.Pro306Ser
|
3.0 |
|
B |