Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5378 | chr13 | 48377026 | G | A |
c.1324G>A
|
p.Gly442Arg
|
- | 3.0 |
|
B | |
| 25525 | chr13 | 48377035 | G | T |
c.1332+1G>T
|
p.?
|
4.0 |
|
B | ||
| 23567 | chr13 | 48379557 | ATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTG | A |
c.1333-32_1333del
|
p.?
|
- | 4.0 |
|
B | |
| 3087 | chr13 | 48379594 | C | T |
c.1333C>T
|
p.Arg445Ter
|
4.5 |
|
B | ||
| 12642 | chr13 | 48379599 | C | CA |
c.1341dup
|
p.Leu448ThrfsTer15
|
- | 4.0 |
|
B | |
| 21409 | chr13 | 48379599 | C | G |
c.1338C>G
|
p.Tyr446Ter
|
- | 4.0 |
|
B | |
| 1132 | chr13 | 48379607 | G | A |
c.1346G>A
|
p.Gly449Glu
|
- | 3.5 |
|
B | |
| 35345 | chr13 | 48379612 | C | T |
c.1351C>T
|
p.Arg451Cys
|
2.5 |
|
B | ||
| 17709 | chr13 | 48379624 | C | T |
c.1363C>T
|
p.Arg455Ter
|
4.5 |
|
B | ||
| 28011 | chr13 | 48379625 | G | A |
c.1364G>A
|
p.Arg455Gln
|
3.0 |
|
B | ||
| 27783 | chr13 | 48379633 | G | A |
c.1372G>A
|
p.Glu458Lys
|
3.0 |
|
B | ||
| 1710 | chr13 | 48379647 | ATCAG | A |
c.1388_1389+2del
|
p.?
|
- | 4.0 |
|
B | |
| 4192 | chr13 | 48379649 | C | G |
c.1388C>G
|
p.Ser463Ter
|
- | 4.0 |
|
B | |
| 13928 | chr13 | 48379656 | T | A |
c.1389+6T>A
|
-
|
- | 3.5 |
|
B | |
| 1592 | chr13 | 48379656 | T | G |
c.1389+6T>G
|
-
|
- | 3.0 |
|
B | |
| 25531 | chr13 | 48380085 | G | T |
c.1421+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 19094 | chr13 | 48380092 | T | C |
c.1421+8T>C
|
-
|
- | 3.0 |
|
B | |
| 22018 | chr13 | 48380099 | T | A |
c.1421+15T>A
|
-
|
- | 3.0 |
|
B | |
| 15832 | chr13 | 48380146 | CT | C |
c.1422-8del
|
-
|
2.0 |
|
B | ||
| 26940 | chr13 | 48380164 | G | A |
c.1422-1G>A
|
p.?
|
4.0 |
|
B |