Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4588 | chr1 | 158842287 | G | A |
c.134G>A
|
p.Arg45Lys
|
- | 3.0 |
|
B | |
| 23768 | chr1 | 158842310 | G | A |
c.157G>A
|
p.Glu53Lys
|
- | 3.0 |
|
B | |
| 17961 | chr1 | 158842310 | GA | G |
c.164del
|
p.Lys55SerfsTer8
|
3.0 |
|
B | ||
| 819 | chr1 | 158842358 | G | T |
c.205G>T
|
p.Ala69Ser
|
- | 3.0 |
|
B | |
| 27455 | chr1 | 158842363 | A | T |
c.210A>T
|
p.Lys70Asn
|
- | 3.0 |
|
B | |
| 27788 | chr1 | 158842425 | GAGAAA | G |
c.265+9_265+13del
|
-
|
- | 3.0 |
|
B | |
| 6350 | chr1 | 158843321 | A | G |
c.308A>G
|
p.Lys103Arg
|
- | 3.0 |
|
B | |
| 26412 | chr1 | 158843377 | C | A |
c.364C>A
|
p.Leu122Met
|
- | 3.0 |
|
B | |
| 31237 | chr1 | 158843424 | G | C |
c.402+9G>C
|
-
|
3.0 |
|
B | ||
| 13410 | chr1 | 158844100 | C | A |
c.548C>A
|
p.Pro183Gln
|
- | 3.0 |
|
B | |
| 33683 | chr1 | 158844123 | G | A |
c.570+1G>A
|
p.?
|
3.0 |
|
B | ||
| 13829 | chr1 | 158845603 | C | A |
c.587C>A
|
p.Ala196Asp
|
- | 3.0 |
|
B | |
| 523 | chr1 | 158845608 | C | G |
c.592C>G
|
p.Arg198Gly
|
3.0 |
|
B | ||
| 1223 | chr1 | 158845608 | C | T |
c.592C>T
|
p.Arg198Trp
|
3.0 |
|
B | ||
| 11801 | chr1 | 158845635 | C | T |
c.619C>T
|
p.Pro207Ser
|
- | 3.0 |
|
B | |
| 7731 | chr1 | 158845728 | G | A |
c.712G>A
|
p.Ala238Thr
|
3.0 |
|
B | ||
| 3966 | chr1 | 158845917 | G | A |
c.901G>A
|
p.Glu301Lys
|
3.0 |
|
B | ||
| 34709 | chr1 | 158847734 | G | A |
c.994G>A
|
p.Val332Ile
|
2.0 |
|
B | ||
| 15615 | chr1 | 158847791 | G | A |
c.1051G>A
|
p.Val351Met
|
3.0 |
|
B | ||
| 8209 | chr1 | 158847830 | G | A |
c.1090G>A
|
p.Gly364Arg
|
- | 3.0 |
|
B |