Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21210 | chr2 | 178653478 | C | T |
c.38656G>A
|
p.Glu12886Lys
|
- | 3.0 |
|
B | |
| 28207 | chr2 | 178654001 | C | A |
c.38464+11G>T
|
-
|
- | 3.0 |
|
B | |
| 20590 | chr2 | 178654198 | G | A |
c.38380+10C>T
|
-
|
2.0 |
|
B | ||
| 14387 | chr2 | 178661807 | T | G |
c.37237A>C
|
p.Lys12413Gln
|
- | 3.0 |
|
B | |
| 13323 | chr2 | 178661834 | C | T |
c.37210G>A
|
p.Ala12404Thr
|
- | 3.0 |
|
B | |
| 17228 | chr2 | 178662407 | G | A |
c.36970C>T
|
p.Pro12324Ser
|
- | 3.0 |
|
B | |
| 17229 | chr2 | 178663018 | T | A |
c.36738A>T
|
p.Glu12246Asp
|
- | 3.0 |
|
B | |
| 14376 | chr2 | 178663063 | G | T |
c.36701-8C>A
|
-
|
- | 3.0 |
|
B | |
| 35592 | chr2 | 178663442 | G | T |
c.36607C>A
|
p.Pro12203Thr
|
- | 3.0 |
|
B | |
| 14581 | chr2 | 178663511 | C | G |
c.36538G>C
|
p.Glu12180Gln
|
- | 3.0 |
|
B | |
| 27694 | chr2 | 178664113 | G | C |
c.36281-15C>G
|
-
|
2.0 |
|
B | ||
| 26595 | chr2 | 178664545 | G | A |
c.36203-8C>T
|
-
|
3.0 |
|
B | ||
| 34249 | chr2 | 178664846 | T | G |
c.36118+6A>C
|
-
|
3.0 |
|
B | ||
| 34846 | chr2 | 178664878 | T | A |
c.36092A>T
|
p.Lys12031Ile
|
- | 3.0 |
|
B | |
| 18068 | chr2 | 178664885 | G | A |
c.36085C>T
|
p.Pro12029Ser
|
- | 3.0 |
|
B | |
| 18385 | chr2 | 178664909 | C | T |
c.36061G>A
|
p.Glu12021Lys
|
- | 3.0 |
|
B | |
| 17736 | chr2 | 178664921 | C | T |
c.36049G>A
|
p.Glu12017Lys
|
3.0 |
|
B | ||
| 17231 | chr2 | 178665732 | C | T |
c.35935G>A
|
p.Glu11979Lys
|
- | 3.0 |
|
B | |
| 32057 | chr2 | 178665776 | C | A |
c.35891G>T
|
p.Arg11964Leu
|
- | 3.0 |
|
B | |
| 8284 | chr2 | 178666900 | C | T |
c.35799G>A
|
p.Glu11933=
|
3.0 |
|
B |