Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21619 | chr6 | 160024660 | C | T |
c.602C>T
|
p.Ser201Phe
|
- | 3.0 |
|
B | |
| 10811 | chr6 | 160029639 | C | T |
c.866C>T
|
p.Pro289Leu
|
3.0 |
|
B | ||
| 12131 | chr6 | 160032933 | T | C |
c.1046-9T>C
|
-
|
- | 3.0 |
|
B | |
| 30183 | chr6 | 160040735 | C | T |
c.1480+11C>T
|
-
|
- | 3.0 |
|
B | |
| 27998 | chr6 | 160045813 | C | T |
c.1834C>T
|
p.His612Tyr
|
- | 3.0 |
|
B | |
| 20742 | chr6 | 160046559 | G | C |
c.1965G>C
|
p.Lys655Asn
|
- | 3.0 |
|
B | |
| 5470 | chr6 | 160047907 | G | T |
c.2345G>T
|
p.Ser782Ile
|
- | 3.0 |
|
B | |
| 32352 | chr6 | 160050585 | C | T |
c.2627C>T
|
p.Thr876Ile
|
3.0 |
|
B | ||
| 34019 | chr6 | 160058110 | G | T |
c.2884G>T
|
p.Gly962Trp
|
- | 3.0 |
|
B | |
| 33726 | chr6 | 160060625 | A | G |
c.3170A>G
|
p.Asp1057Gly
|
- | 3.0 |
|
B | |
| 18491 | chr6 | 160061860 | G | T |
c.3514G>T
|
p.Val1172Phe
|
- | 3.0 |
|
B | |
| 983 | chr6 | 160061875 | T | G |
c.3529T>G
|
p.Cys1177Gly
|
- | 3.0 |
|
B | |
| 16506 | chr6 | 160061897 | C | T |
c.3551C>T
|
p.Thr1184Ile
|
3.0 |
|
B | ||
| 16463 | chr6 | 160062569 | A | G |
c.3620A>G
|
p.Tyr1207Cys
|
- | 3.0 |
|
B | |
| 7783 | chr6 | 160063409 | T | G |
c.3671-6T>G
|
-
|
- | 3.0 |
|
B | |
| 9148 | chr6 | 160063529 | G | T |
c.3785G>T
|
p.Cys1262Phe
|
- | 3.0 |
|
B | |
| 9341 | chr6 | 160064455 | C | CG |
c.3949dup
|
p.Asp1317GlyfsTer5
|
3.0 |
|
B | ||
| 26746 | chr6 | 160068238 | C | T |
c.4116-11C>T
|
-
|
3.0 |
|
B | ||
| 6496 | chr6 | 160068262 | A | T |
c.4129A>T
|
p.Asn1377Tyr
|
- | 3.0 |
|
B | |
| 14725 | chr6 | 160068400 | C | T |
c.4252+15C>T
|
-
|
3.0 |
|
B |