Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18415 | chr17 | 4674876 | C | A |
c.1355G>T
|
p.Gly452Val
|
- | 3.0 |
|
B | |
| 29935 | chr17 | 4674887 | C | A |
c.1344G>T
|
p.Met448Ile
|
- | 3.0 |
|
B | |
| 16484 | chr17 | 4674892 | C | T |
c.1339G>A
|
p.Gly447Arg
|
- | 3.0 |
|
B | |
| 23395 | chr17 | 4675076 | C | T |
c.1274+3G>A
|
-
|
- | 3.0 |
|
B | |
| 34069 | chr17 | 4676438 | C | T |
c.772G>A
|
p.Glu258Lys
|
3.0 |
|
B | ||
| 21962 | chr17 | 4676784 | C | G |
c.671G>C
|
p.Arg224Thr
|
3.0 |
|
B | ||
| 23088 | chr17 | 4682537 | T | C |
c.607A>G
|
p.Met203Val
|
- | 3.0 |
|
B | |
| 20972 | chr17 | 4682960 | A | T |
c.421-8T>A
|
-
|
- | 3.0 |
|
B | |
| 35395 | chr17 | 4704203 | G | C |
-
|
-
|
3.0 |
|
B | ||
| 22383 | chr17 | 5132916 | C | T |
c.202C>T
|
p.Arg68Trp
|
3.0 |
|
B | ||
| 31591 | chr17 | 5133900 | G | A |
c.398G>A
|
p.Arg133Lys
|
3.0 |
|
B | ||
| 29924 | chr17 | 5135282 | G | A |
c.543G>A
|
p.Pro181=
|
3.0 |
|
B | ||
| 27725 | chr17 | 5135822 | C | A |
c.558C>A
|
p.Cys186Ter
|
3.0 |
|
B | ||
| 27653 | chr17 | 5136640 | G | A |
c.665G>A
|
p.Gly222Glu
|
- | 3.0 |
|
B | |
| 29126 | chr17 | 5136666 | G | A |
c.691G>A
|
p.Val231Ile
|
- | 3.0 |
|
B | |
| 13653 | chr17 | 5138287 | C | T |
c.1078+14C>T
|
-
|
- | 3.0 |
|
B | |
| 21098 | chr17 | 5139236 | A | G |
c.1079-19A>G
|
-
|
3.0 |
|
B | ||
| 33146 | chr17 | 5139320 | T | C |
c.1144T>C
|
p.Cys382Arg
|
- | 3.0 |
|
B | |
| 21099 | chr17 | 5139360 | A | G |
c.1184A>G
|
p.Gln395Arg
|
- | 3.0 |
|
B | |
| 21105 | chr17 | 5139366 | A | C |
c.1190A>C
|
p.Gln397Pro
|
- | 3.0 |
|
B |