Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17730 | chr17 | 35353072 | GTTGAATGTGTTCAAAGTTTTCTC | G |
c.1967_1989del
|
p.Arg656ThrfsTer5
|
- | 3.5 |
|
B | |
| 17896 | chr17 | 35353158 | C | T |
c.1923-19G>A
|
-
|
3.0 |
|
B | ||
| 18333 | chr17 | 35353331 | C | T |
c.1922+5G>A
|
-
|
3.0 |
|
B | ||
| 20467 | chr17 | 35353391 | C | T |
c.1867G>A
|
p.Glu623Lys
|
- | 3.0 |
|
B | |
| 29663 | chr17 | 35353397 | G | A |
c.1861C>T
|
p.His621Tyr
|
- | 3.0 |
|
B | |
| 27629 | chr17 | 35353550 | C | T |
c.1708G>A
|
p.Gly570Ser
|
3.0 |
|
B | ||
| 13436 | chr17 | 35353738 | T | G |
c.1520A>C
|
p.Lys507Thr
|
- | 3.0 |
|
B | |
| 18171 | chr17 | 35353949 | C | T |
c.1309G>A
|
p.Gly437Arg
|
3.0 |
|
B | ||
| 34430 | chr17 | 35353952 | G | A |
c.1306C>T
|
p.Arg436Trp
|
3.0 |
|
B | ||
| 31301 | chr17 | 35353996 | C | G |
c.1262G>C
|
p.Arg421Thr
|
- | 3.0 |
|
B | |
| 34645 | chr17 | 35354026 | G | C |
c.1232C>G
|
p.Ser411Ter
|
- | 3.5 |
|
B | |
| 21467 | chr17 | 35360303 | G | C |
c.1138C>G
|
p.Pro380Ala
|
- | 3.0 |
|
B | |
| 19808 | chr17 | 35362922 | T | C |
c.886A>G
|
p.Thr296Ala
|
3.0 |
|
B | ||
| 27886 | chr17 | 35362942 | G | A |
c.866C>T
|
p.Pro289Leu
|
- | 3.0 |
|
B | |
| 21982 | chr17 | 35363033 | C | A |
c.775G>T
|
p.Gly259Ter
|
- | 4.0 |
|
B | |
| 18245 | chr17 | 35363039 | C | A |
c.769G>T
|
p.Val257Phe
|
- | 3.0 |
|
B | |
| 12842 | chr17 | 35363072 | G | A |
c.736C>T
|
p.Leu246Phe
|
3.0 |
|
B | ||
| 26199 | chr17 | 35363105 | C | T |
c.703G>A
|
p.Val235Ile
|
3.0 |
|
B | ||
| 13228 | chr17 | 35363164 | A | C |
c.644T>G
|
p.Phe215Cys
|
- | 3.0 |
|
B | |
| 25271 | chr17 | 35363169 | TACTA | T |
c.635_638del
|
p.Leu212Ter
|
- | 3.5 |
|
B |