Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31533 | chr17 | 1895103 | A | AGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGATTAAGACTGCAGTGAG |
c.1746+9_1746+10insCTGAGGTGGGAGGATCACTTGAGCCCAGGAGATTAAGACTGCAGTGAGG
|
-
|
- | 3.0 |
|
B | |
| 26730 | chr17 | 1897060 | C | T |
c.1747-11C>T
|
-
|
3.0 |
|
B | ||
| 4539 | chr17 | 2770357 | G | A |
c.79G>A
|
p.Glu27Lys
|
3.0 |
|
B | ||
| 5218 | chr17 | 3127212 | G | A |
c.340C>T
|
p.Leu114Phe
|
- | 3.0 |
|
B | |
| 3492 | chr17 | 3818291 | C | T |
c.1282G>A
|
p.Glu428Lys
|
3.0 |
|
B | ||
| 5263 | chr17 | 4549409 | C | A |
c.1353G>T
|
p.Trp451Cys
|
- | 3.0 |
|
B | |
| 4860 | chr17 | 4638689 | A | T |
c.543-5T>A
|
-
|
- | 3.0 |
|
B | |
| 16050 | chr17 | 4672061 | G | A |
c.2930C>T
|
p.Pro977Leu
|
- | 3.0 |
|
B | |
| 16051 | chr17 | 4672061 | G | C |
c.2930C>G
|
p.Pro977Arg
|
- | 3.0 |
|
B | |
| 7314 | chr17 | 4672279 | CTCTTCTTCCTCTTCT | C |
c.2697_2711del
|
p.Glu904_Glu908del
|
3.0 |
|
B | ||
| 19219 | chr17 | 4672443 | G | T |
c.2548C>A
|
p.Pro850Thr
|
- | 3.0 |
|
B | |
| 22173 | chr17 | 4672499 | T | G |
c.2492A>C
|
p.Glu831Ala
|
- | 3.0 |
|
B | |
| 19897 | chr17 | 4672598 | AG | A |
c.2392del
|
p.Leu798CysfsTer14
|
3.0 |
|
B | ||
| 11427 | chr17 | 4672629 | C | T |
c.2362G>A
|
p.Val788Met
|
- | 3.0 |
|
B | |
| 28374 | chr17 | 4672701 | C | T |
c.2290G>A
|
p.Ala764Thr
|
3.0 |
|
B | ||
| 12759 | chr17 | 4672959 | G | A |
c.2032C>T
|
p.Pro678Ser
|
3.0 |
|
B | ||
| 28924 | chr17 | 4673151 | G | A |
c.1846-6C>T
|
-
|
- | 3.0 |
|
B | |
| 26654 | chr17 | 4673152 | A | G |
c.1846-7T>C
|
-
|
- | 3.0 |
|
B | |
| 26126 | chr17 | 4674524 | G | A |
c.1568C>T
|
p.Ala523Val
|
3.0 |
|
B | ||
| 13557 | chr17 | 4674561 | G | A |
c.1531C>T
|
p.Arg511Trp
|
3.0 |
|
B |