Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8296 | chr2 | 178579597 | G | T |
c.67600C>A
|
p.Pro22534Thr
|
- | 3.0 |
|
B | |
| 27854 | chr2 | 178579701 | C | T |
c.67496G>A
|
p.Arg22499Gln
|
3.0 |
|
B | ||
| 33525 | chr2 | 178579752 | C | T |
c.67445G>A
|
p.Arg22482Gln
|
2.5 |
|
B | ||
| 23303 | chr2 | 178580007 | C | A |
c.67280G>T
|
p.Arg22427Leu
|
3.0 |
|
B | ||
| 15329 | chr2 | 178580098 | C | T |
c.67189G>A
|
p.Glu22397Lys
|
3.0 |
|
B | ||
| 29207 | chr2 | 178580215 | G | A |
c.67072C>T
|
p.Pro22358Ser
|
- | 3.0 |
|
B | |
| 16078 | chr2 | 178580537 | A | T |
c.66842T>A
|
p.Leu22281Gln
|
- | 3.0 |
|
B | |
| 30078 | chr2 | 178581479 | C | T |
c.66769+20G>A
|
-
|
- | 3.0 |
|
B | |
| 8297 | chr2 | 178581658 | C | A |
c.66610G>T
|
p.Val22204Leu
|
- | 3.0 |
|
B | |
| 34456 | chr2 | 178581769 | C | G |
c.66499G>C
|
p.Asp22167His
|
3.0 |
|
B | ||
| 23952 | chr2 | 178581921 | C | T |
c.66448G>A
|
p.Ala22150Thr
|
- | 3.0 |
|
B | |
| 30577 | chr2 | 178581963 | CT | C |
c.66405del
|
p.Ala22136LeufsTer38
|
- | 3.0 |
|
B | |
| 19962 | chr2 | 178582578 | G | T |
c.65878C>A
|
p.Pro21960Thr
|
- | 3.0 |
|
B | |
| 9606 | chr2 | 178582993 | G | A |
c.65810C>T
|
p.Thr21937Ile
|
- | 3.0 |
|
B | |
| 26377 | chr2 | 178583112 | C | T |
c.65691G>A
|
p.Trp21897Ter
|
- | 3.0 |
|
B | |
| 30975 | chr2 | 178583173 | G | T |
c.65630C>A
|
p.Ala21877Asp
|
- | 3.0 |
|
B | |
| 27693 | chr2 | 178583658 | T | C |
c.65524A>G
|
p.Ile21842Val
|
- | 3.0 |
|
B | |
| 33312 | chr2 | 178583666 | G | A |
c.65516C>T
|
p.Ala21839Val
|
1.0 |
|
B | ||
| 34985 | chr2 | 178583687 | A | T |
c.65495T>A
|
p.Phe21832Tyr
|
- | 3.0 |
|
B | |
| 23219 | chr2 | 178583789 | T | C |
c.65393A>G
|
p.Lys21798Arg
|
- | 3.0 |
|
B |