Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13725 | chr17 | 7674282 | AG | A |
c.680del
|
p.Ser227LeufsTer20
|
4.5 |
|
B | ||
| 2214 | chr17 | 7674289 | A | ACC |
c.673-1_673dup
|
p.Val225GlyfsTer23
|
- | 4.0 |
|
B | |
| 16940 | chr17 | 7674291 | C | G |
c.673-1G>C
|
p.?
|
- | 5.0 |
|
B | |
| 4456 | chr17 | 7674291 | C | T |
c.673-1G>A
|
p.?
|
5.0 |
|
B | ||
| 7633 | chr17 | 7674292 | T | C |
c.673-2A>G
|
p.?
|
4.5 |
|
B | ||
| 16956 | chr17 | 7674292 | T | G |
c.673-2A>C
|
p.?
|
4.0 |
|
B | ||
| 5564 | chr17 | 7674292 | TAGGAGATA | T |
c.673-10_673-3del
|
-
|
- | 3.0 |
|
B | |
| 8674 | chr17 | 7674294 | G | C |
c.673-4C>G
|
-
|
2.5 |
|
B | ||
| 32410 | chr17 | 7674821 | TAACCCCTCCTCCCAGAGACCCCAGTTGCAAACCA | T |
c.672+4_672+37del
|
-
|
- | 3.5 |
|
B | |
| 5503 | chr17 | 7674857 | A | G |
c.672+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 15776 | chr17 | 7674858 | C | A |
c.672+1G>T
|
p.?
|
4.5 |
|
B | ||
| 671 | chr17 | 7674858 | C | G |
c.672+1G>C
|
p.?
|
- | 4.5 |
|
B | |
| 2158 | chr17 | 7674858 | C | T |
c.672+1G>A
|
p.?
|
4.0 |
|
B | ||
| 28650 | chr17 | 7674859 | C | A |
c.672G>T
|
p.Glu224Asp
|
3.0 |
|
B | ||
| 899 | chr17 | 7674859 | C | G |
c.672G>C
|
p.Glu224Asp
|
3.5 |
|
B | ||
| 5893 | chr17 | 7674859 | C | T |
c.672G>A
|
p.Glu224=
|
5.0 |
|
B | ||
| 27924 | chr17 | 7674861 | C | A |
c.670G>T
|
p.Glu224Ter
|
- | 4.5 |
|
B | |
| 9336 | chr17 | 7674863 | GGCGGCTCATA | G |
c.658_667del
|
p.Tyr220LeufsTer24
|
- | 4.0 |
|
B | |
| 29077 | chr17 | 7674864 | G | A |
c.667C>T
|
p.Pro223Ser
|
- | 3.5 |
|
B | |
| 16223 | chr17 | 7674870 | C | A |
c.661G>T
|
p.Glu221Ter
|
4.5 |
|
B |