Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34893 | chr4 | 125479776 | C | T |
c.12515C>T
|
p.Pro4172Leu
|
- | 3.0 |
|
B | |
| 33253 | chr4 | 125479882 | G | A |
c.12604+17G>A
|
-
|
2.0 |
|
B | ||
| 11639 | chr4 | 125481742 | A | T |
c.12822+4A>T
|
-
|
- | 3.0 |
|
B | |
| 31541 | chr4 | 125487432 | G | A |
c.12910G>A
|
p.Gly4304Ser
|
2.0 |
|
B | ||
| 11604 | chr4 | 125487624 | G | A |
c.13084+18G>A
|
-
|
- | 2.5 |
|
B | |
| 23131 | chr4 | 125489884 | C | T |
c.13085-17C>T
|
-
|
- | 3.0 |
|
B | |
| 21616 | chr4 | 125489922 | C | A |
c.13106C>A
|
p.Ala4369Asp
|
- | 3.0 |
|
B | |
| 29017 | chr4 | 125489925 | C | A |
c.13109C>A
|
p.Ser4370Tyr
|
- | 3.0 |
|
B | |
| 13329 | chr4 | 125490039 | G | T |
c.13223G>T
|
p.Ser4408Ile
|
- | 3.0 |
|
B | |
| 33177 | chr4 | 125490104 | G | A |
c.13288G>A
|
p.Gly4430Arg
|
- | 3.0 |
|
B | |
| 32263 | chr4 | 125490104 | G | T |
c.13288G>T
|
p.Gly4430Trp
|
- | 3.0 |
|
B | |
| 22551 | chr4 | 125490134 | G | A |
c.13318G>A
|
p.Gly4440Ser
|
- | 3.0 |
|
B | |
| 23132 | chr4 | 125490198 | G | A |
c.13382G>A
|
p.Gly4461Glu
|
- | 3.0 |
|
B | |
| 32327 | chr4 | 125490255 | T | C |
c.13439T>C
|
p.Val4480Ala
|
- | 3.0 |
|
B | |
| 33340 | chr4 | 125490405 | A | T |
c.13589A>T
|
p.Gln4530Leu
|
- | 3.0 |
|
B | |
| 22292 | chr4 | 125490470 | G | A |
c.13654G>A
|
p.Gly4552Arg
|
- | 3.0 |
|
B | |
| 13903 | chr4 | 125490523 | TGACATGACTGTGAGGAAGCA | T |
c.13709_13728del
|
p.Asp4570AlafsTer2
|
- | 4.0 |
|
B | |
| 19439 | chr4 | 125490540 | A | G |
c.13724A>G
|
p.Lys4575Arg
|
- | 3.0 |
|
B | |
| 24443 | chr4 | 125490544 | G | T |
c.13728G>T
|
p.Gln4576His
|
- | 3.0 |
|
B | |
| 25806 | chr4 | 125490582 | A | T |
c.13766A>T
|
p.Glu4589Val
|
- | 3.0 |
|
B |