Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9105 | chr17 | 40411451 | C | T |
c.968G>A
|
p.Gly323Asp
|
- | 3.0 |
|
B | |
| 35480 | chr17 | 40412747 | G | A |
c.789+12C>T
|
-
|
- | 3.0 |
|
B | |
| 30551 | chr17 | 40412771 | TCCATTAAGAAA | T |
c.766_776del
|
p.Phe256LysfsTer2
|
- | 3.0 |
|
B | |
| 11719 | chr17 | 40413205 | A | C |
c.566T>G
|
p.Met189Arg
|
- | 3.0 |
|
B | |
| 28199 | chr17 | 40413493 | TTCA | T |
c.462_464del
|
p.Asp154del
|
3.0 |
|
B | ||
| 6540 | chr17 | 40413530 | C | A |
c.428G>T
|
p.Gly143Val
|
- | 3.0 |
|
B | |
| 26154 | chr17 | 40416433 | T | C |
c.257A>G
|
p.Asp86Gly
|
- | 3.0 |
|
B | |
| 23168 | chr17 | 40416472 | C | T |
c.218G>A
|
p.Arg73Lys
|
- | 3.0 |
|
B | |
| 23004 | chr17 | 40416491 | C | G |
c.199G>C
|
p.Asp67His
|
- | 3.0 |
|
B | |
| 32050 | chr17 | 40416723 | G | C |
c.177+17C>G
|
-
|
- | 3.0 |
|
B | |
| 34229 | chr17 | 40554822 | G | A |
c.1057C>T
|
p.Arg353Trp
|
3.0 |
|
B | ||
| 18654 | chr17 | 40555089 | C | T |
c.790G>A
|
p.Val264Met
|
3.0 |
|
B | ||
| 26681 | chr17 | 40555577 | G | A |
c.302C>T
|
p.Ala101Val
|
- | 3.0 |
|
B | |
| 18246 | chr17 | 40565393 | C | T |
c.10+7G>A
|
-
|
- | 3.0 |
|
B | |
| 2396 | chr17 | 40628784 | CTTATTCT | C |
c.1230_1236del
|
p.Glu411CysfsTer29
|
- | 3.5 |
|
B | |
| 26184 | chr17 | 40628785 | T | G |
c.1236A>C
|
p.Ter412TyrextTer13
|
- | 3.0 |
|
B | |
| 1403 | chr17 | 40628951 | C | T |
c.1070G>A
|
p.Gly357Asp
|
- | 2.5 |
|
B | |
| 11595 | chr17 | 40628981 | A | T |
c.1040T>A
|
p.Leu347His
|
- | 3.0 |
|
B | |
| 17714 | chr17 | 40629575 | G | A |
c.1028-582C>T
|
-
|
- | 3.0 |
|
B | |
| 14670 | chr17 | 40630208 | C | T |
c.1027+506G>A
|
-
|
3.0 |
|
B |