Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16675 | chr1 | 119923724 | G | A |
c.4772C>T
|
p.Pro1591Leu
|
3.0 |
|
B | ||
| 8543 | chr1 | 119923904 | C | A |
c.4592G>T
|
p.Gly1531Val
|
- | 3.0 |
|
B | |
| 10178 | chr1 | 119923908 | C | T |
c.4588G>A
|
p.Asp1530Asn
|
- | 3.0 |
|
B | |
| 28656 | chr1 | 119925286 | G | C |
c.4511+19C>G
|
-
|
- | 3.0 |
|
B | |
| 12324 | chr1 | 119925360 | T | C |
c.4456A>G
|
p.Thr1486Ala
|
- | 3.0 |
|
B | |
| 10596 | chr1 | 119925366 | A | G |
c.4450T>C
|
p.Cys1484Arg
|
- | 3.0 |
|
B | |
| 12939 | chr1 | 119925432 | G | T |
c.4384C>A
|
p.Pro1462Thr
|
- | 3.0 |
|
B | |
| 10180 | chr1 | 119925471 | G | A |
c.4345C>T
|
p.Gln1449Ter
|
- | 3.5 |
|
B | |
| 20271 | chr1 | 119925572 | G | A |
c.4244C>T
|
p.Thr1415Met
|
3.0 |
|
B | ||
| 31345 | chr1 | 119925585 | A | T |
c.4231T>A
|
p.Cys1411Ser
|
- | 3.0 |
|
B | |
| 30809 | chr1 | 119925659 | C | T |
c.4157G>A
|
p.Gly1386Glu
|
- | 3.0 |
|
B | |
| 7637 | chr1 | 119925798 | C | A |
c.4018G>T
|
p.Ala1340Ser
|
- | 3.0 |
|
B | |
| 8429 | chr1 | 119929137 | C | T |
c.3731G>A
|
p.Arg1244Lys
|
- | 3.0 |
|
B | |
| 1122 | chr1 | 119935577 | A | T |
c.3550T>A
|
p.Cys1184Ser
|
- | 3.0 |
|
B | |
| 17637 | chr1 | 119935624 | A | C |
c.3523-20T>G
|
-
|
- | 3.0 |
|
B | |
| 17447 | chr1 | 119937267 | G | T |
c.3522+15C>A
|
-
|
- | 3.0 |
|
B | |
| 21443 | chr1 | 119937977 | T | C |
c.3217A>G
|
p.Lys1073Glu
|
3.0 |
|
B | ||
| 5350 | chr1 | 119941525 | C | T |
c.2981+1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 34450 | chr1 | 119948543 | C | A |
c.2623G>T
|
p.Asp875Tyr
|
- | 3.0 |
|
B | |
| 21647 | chr1 | 119949058 | CTT | C |
c.2546_2547del
|
p.Lys849ArgfsTer6
|
4.0 |
|
B |