Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5017 | chr17 | 42712473 | C | T |
c.1217G>A
|
p.Arg406His
|
3.0 |
|
B | ||
| 10347 | chr17 | 42713377 | C | A |
c.1036G>T
|
p.Glu346Ter
|
- | 3.0 |
|
B | |
| 9646 | chr17 | 42718454 | G | C |
c.931C>G
|
p.Pro311Ala
|
3.0 |
|
B | ||
| 16833 | chr17 | 42719099 | C | T |
c.767+6G>A
|
-
|
3.0 |
|
B | ||
| 26233 | chr17 | 42719192 | G | A |
c.680C>T
|
p.Ser227Phe
|
- | 3.0 |
|
B | |
| 545 | chr17 | 42719197 | C | G |
c.675G>C
|
p.Lys225Asn
|
- | 3.0 |
|
B | |
| 15875 | chr17 | 42722777 | G | A |
c.487+18C>T
|
-
|
3.0 |
|
B | ||
| 21939 | chr17 | 42722829 | G | C |
c.453C>G
|
p.Ile151Met
|
- | 3.0 |
|
B | |
| 13932 | chr17 | 42722900 | C | T |
c.382G>A
|
p.Val128Ile
|
- | 3.0 |
|
B | |
| 24048 | chr17 | 43045657 | TGTACCTGTGGCTGGCTGCAGTCAGTA | T |
c.5587_*20del
|
p.Tyr1863ArgfsTer8
|
- | 3.5 |
|
B | |
| 14976 | chr17 | 43047709 | T | C |
c.5407-6A>G
|
-
|
3.0 |
|
B | ||
| 19771 | chr17 | 43067689 | C | T |
c.4993G>A
|
p.Val1665Met
|
2.0 |
|
B | ||
| 4029 | chr17 | 43067699 | A | G |
c.4987-4T>C
|
-
|
3.0 |
|
B | ||
| 28820 | chr17 | 43070947 | C | T |
c.4967G>A
|
p.Gly1656Asp
|
3.0 |
|
B | ||
| 2318 | chr17 | 43071181 | T | G |
c.4733A>C
|
p.Asp1578Ala
|
- | 3.0 |
|
B | |
| 32089 | chr17 | 43074384 | T | C |
c.4622A>G
|
p.Glu1541Gly
|
- | 3.0 |
|
B | |
| 23294 | chr17 | 43074421 | T | A |
c.4585A>T
|
p.Ile1529Phe
|
- | 3.0 |
|
B | |
| 24068 | chr17 | 43074444 | T | C |
c.4562A>G
|
p.Asn1521Ser
|
- | 3.0 |
|
B | |
| 16180 | chr17 | 43074499 | A | G |
c.4507T>C
|
p.Ser1503Pro
|
- | 3.0 |
|
B | |
| 25395 | chr17 | 43074541 | G | A |
c.4485-20C>T
|
-
|
- | 2.0 |
|
B |