Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33142 | chr9 | 83971311 | A | G |
c.1054T>C
|
p.Trp352Arg
|
- | 3.0 |
|
B | |
| 29876 | chr9 | 83971362 | A | C |
c.1009-6T>G
|
-
|
- | 3.0 |
|
B | |
| 17335 | chr9 | 83971865 | C | A |
c.953+17G>T
|
-
|
2.0 |
|
B | ||
| 21036 | chr9 | 83971868 | A | C |
c.953+14T>G
|
-
|
2.0 |
|
B | ||
| 20087 | chr9 | 83972033 | G | A |
c.802C>T
|
p.Arg268Trp
|
- | 3.0 |
|
B | |
| 34478 | chr9 | 83972062 | C | T |
c.773G>A
|
p.Arg258Lys
|
- | 3.0 |
|
B | |
| 12339 | chr9 | 83973270 | AT | A |
c.516+15del
|
-
|
2.0 |
|
B | ||
| 27098 | chr9 | 83977754 | G | T |
-
c.91C>A
|
-
p.Gln31Lys
|
- | 3.0 |
|
B | |
| 27074 | chr9 | 84670938 | G | C |
c.190G>C
|
p.Asp64His
|
- | 3.0 |
|
B | |
| 10986 | chr9 | 84671000 | C | T |
c.212+40C>T
|
-
|
1.0 |
|
B | ||
| 10987 | chr9 | 84671077 | G | A |
c.212+117G>A
|
-
|
1.0 |
|
B | ||
| 14479 | chr9 | 84671557 | G | T |
c.212+597G>T
|
-
|
- | 3.0 |
|
B | |
| 35580 | chr9 | 84671698 | TTGGATGATAAAGCAC | T |
c.212+742_212+756del
|
-
|
- | 3.0 |
|
B | |
| 1584 | chr9 | 84672402 | C | T |
c.212+1442C>T
|
-
|
- | 3.0 |
|
B | |
| 10203 | chr9 | 84673003 | C | T |
c.212+2043C>T
|
-
|
- | 3.0 |
|
B | |
| 26543 | chr9 | 84673421 | G | A |
c.212+2461G>A
|
-
|
3.0 |
|
B | ||
| 5104 | chr9 | 84673625 | T | C |
c.212+2665T>C
|
-
|
1.0 |
|
B | ||
| 17940 | chr9 | 84702415 | C | T |
c.355C>T
|
p.His119Tyr
|
- | 3.0 |
|
B | |
| 29559 | chr9 | 84707861 | A | G |
c.377A>G
|
p.Lys126Arg
|
3.0 |
|
B | ||
| 810 | chr9 | 84710666 | C | A |
c.458C>A
|
p.Ser153Tyr
|
- | 3.0 |
|
B |