Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15566 | chr13 | 91399104 | GGGTCCGCCCGCA | G |
c.60_71del
|
p.Ser21_Ser24del
|
- | 3.0 |
|
B | |
| 16453 | chr13 | 91448869 | C | T |
c.272C>T
|
p.Thr91Met
|
3.0 |
|
B | ||
| 32587 | chr13 | 91693193 | T | C |
c.332T>C
|
p.Leu111Pro
|
3.0 |
|
B | ||
| 21281 | chr13 | 91693213 | G | A |
c.352G>A
|
p.Ala118Thr
|
3.0 |
|
B | ||
| 20906 | chr13 | 91693355 | G | A |
c.494G>A
|
p.Arg165Lys
|
3.0 |
|
B | ||
| 34346 | chr13 | 91693412 | C | T |
c.551C>T
|
p.Thr184Ile
|
- | 3.0 |
|
B | |
| 20462 | chr13 | 91693424 | T | C |
c.563T>C
|
p.Leu188Pro
|
- | 3.0 |
|
B | |
| 34625 | chr13 | 91693637 | C | T |
c.776C>T
|
p.Pro259Leu
|
3.0 |
|
B | ||
| 16074 | chr13 | 91693649 | G | A |
c.788G>A
|
p.Gly263Asp
|
3.0 |
|
B | ||
| 18849 | chr13 | 91693751 | G | T |
c.890G>T
|
p.Arg297Leu
|
3.0 |
|
B | ||
| 20120 | chr13 | 91693792 | G | A |
c.931G>A
|
p.Asp311Asn
|
3.0 |
|
B | ||
| 28665 | chr13 | 91728592 | G | T |
c.1081G>T
|
p.Asp361Tyr
|
- | 3.0 |
|
B | |
| 16049 | chr13 | 91756314 | C | T |
c.1174C>T
|
p.Arg392Ter
|
4.0 |
|
B | ||
| 25450 | chr13 | 91756407 | G | C |
c.1267G>C
|
p.Asp423His
|
- | 3.0 |
|
B | |
| 17352 | chr13 | 91756439 | G | C |
c.1280+19G>C
|
-
|
- | 3.0 |
|
B | |
| 29826 | chr13 | 92144884 | A | T |
c.1456A>T
|
p.Ser486Cys
|
- | 3.0 |
|
B | |
| 34440 | chr13 | 92144945 | G | A |
c.1517G>A
|
p.Gly506Glu
|
- | 3.0 |
|
B | |
| 28708 | chr13 | 92866323 | C | T |
c.1603C>T
|
p.His535Tyr
|
3.0 |
|
B | ||
| 22676 | chr13 | 92866428 | G | A |
c.1708G>A
|
p.Gly570Arg
|
3.0 |
|
B | ||
| 27933 | chr13 | 94711320 | G | A |
c.730C>T
|
p.Pro244Ser
|
- | 3.0 |
|
B |