Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24137 | chr9 | 214453 | CT | C |
-
|
-
|
3.0 |
|
B | ||
| 5988 | chr9 | 214984 | C | T |
c.8C>T
|
p.Thr3Ile
|
- | 3.0 |
|
B | |
| 30490 | chr9 | 214989 | C | T |
c.13C>T
|
p.Pro5Ser
|
- | 3.0 |
|
B | |
| 34208 | chr9 | 271640 | G | T |
c.67G>T
|
p.Glu23Ter
|
3.0 |
|
B | ||
| 1916 | chr9 | 286594 | C | G |
c.290C>G
|
p.Pro97Arg
|
- | 3.0 |
|
B | |
| 2524 | chr9 | 304633 | G | T |
c.457G>T
|
p.Asp153Tyr
|
- | 3.0 |
|
B | |
| 34373 | chr9 | 304697 | C | G |
c.521C>G
|
p.Ala174Gly
|
- | 3.0 |
|
B | |
| 9969 | chr9 | 312050 | C | T |
c.625C>T
|
p.Arg209Trp
|
3.0 |
|
B | ||
| 3063 | chr9 | 312089 | T | G |
c.664T>G
|
p.Phe222Val
|
- | 3.0 |
|
B | |
| 14206 | chr9 | 317042 | G | A |
c.742-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 11576 | chr9 | 325656 | CTCTT | C |
c.828-11_828-8del
|
-
|
3.0 |
|
B | ||
| 18667 | chr9 | 328006 | T | C |
c.895-16T>C
|
-
|
1.0 |
|
B | ||
| 7114 | chr9 | 332428 | G | T |
c.1075G>T
|
p.Gly359Ter
|
- | 3.0 |
|
B | |
| 13191 | chr9 | 332481 | ATGGTAATT | A |
c.1125+6_1125+13del
|
-
|
- | 3.0 |
|
B | |
| 18927 | chr9 | 334292 | G | A |
c.1193G>A
|
p.Arg398Gln
|
3.0 |
|
B | ||
| 33239 | chr9 | 334376 | CTG | C |
c.1280_1281del
|
p.Val427GlyfsTer8
|
- | 3.0 |
|
B | |
| 9473 | chr9 | 336602 | C | T |
c.1306C>T
|
p.Arg436Trp
|
3.0 |
|
B | ||
| 5297 | chr9 | 339084 | G | A |
c.1501G>A
|
p.Val501Ile
|
- | 3.0 |
|
B | |
| 25570 | chr9 | 340336 | C | G |
c.1679+15C>G
|
-
|
- | 3.0 |
|
B | |
| 8369 | chr9 | 368051 | C | CT |
c.1716dup
|
p.Val573CysfsTer23
|
- | 3.0 |
|
B |