Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6962 | chr1 | 158847875 | C | A |
c.1135C>A
|
p.Arg379Ser
|
3.0 |
|
B | ||
| 26053 | chr1 | 158847934 | G | A |
c.1176+18G>A
|
-
|
3.0 |
|
B | ||
| 10818 | chr1 | 158849174 | T | C |
c.1177-16T>C
|
-
|
- | 3.0 |
|
B | |
| 695 | chr1 | 159062696 | GT | G |
c.1027del
|
p.Thr343HisfsTer14
|
3.0 |
|
B | ||
| 3354 | chr1 | 159440427 | GGTTTTCATTTCTTAT | G |
c.640_654del
|
p.Phe214_Val218del
|
- | 3.0 |
|
B | |
| 4626 | chr1 | 160181815 | G | A |
c.2867+1G>A
|
p.?
|
3.0 |
|
B | ||
| 11263 | chr1 | 160619810 | CT | C |
c.829del
|
p.Ser277AlafsTer54
|
3.0 |
|
B | ||
| 4808 | chr1 | 161170741 | C | T |
c.1220C>T
-
|
p.Pro407Leu
-
|
3.0 |
|
B | ||
| 18470 | chr1 | 161323674 | A | G |
c.77+4A>G
|
-
|
- | 3.0 |
|
B | |
| 22246 | chr1 | 161328437 | G | A |
c.119G>A
|
p.Arg40Gln
|
2.5 |
|
B | ||
| 11358 | chr1 | 161356675 | AG | A |
c.244del
|
p.Val82SerfsTer22
|
- | 3.5 |
|
B | |
| 3609 | chr1 | 162000206 | T | C |
c.856A>G
|
p.Arg286Gly
|
- | 3.0 |
|
B | |
| 12248 | chr1 | 162719066 | G | A |
c.3G>A
|
p.Met1?
|
- | 3.0 |
|
B | |
| 18214 | chr1 | 162719112 | A | G |
c.49A>G
|
p.Ile17Val
|
3.0 |
|
B | ||
| 20654 | chr1 | 162753084 | T | G |
c.83-11T>G
|
-
|
- | 3.0 |
|
B | |
| 6370 | chr1 | 162753116 | G | T |
c.104G>T
|
p.Gly35Val
|
- | 3.0 |
|
B | |
| 6371 | chr1 | 162753127 | G | T |
c.115G>T
|
p.Gly39Cys
|
- | 3.0 |
|
B | |
| 7754 | chr1 | 162754624 | G | T |
c.186G>T
|
p.Arg62Ser
|
- | 3.0 |
|
B | |
| 30066 | chr1 | 162754654 | G | A |
c.216G>A
|
p.Trp72Ter
|
- | 3.0 |
|
B | |
| 13798 | chr1 | 162754769 | G | A |
c.331G>A
|
p.Gly111Ser
|
- | 3.0 |
|
B |