Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31316 | chr2 | 140702503 | C | A |
c.6074G>T
|
p.Arg2025Leu
|
3.0 |
|
B | ||
| 8787 | chr2 | 140702538 | AG | A |
c.6038del
|
p.Thr2013MetfsTer23
|
- | 4.0 |
|
B | |
| 2304 | chr2 | 140716016 | C | G |
c.5980G>C
|
p.Gly1994Arg
|
- | 3.0 |
|
B | |
| 27209 | chr2 | 140716021 | G | A |
c.5975C>T
|
p.Ser1992Phe
|
- | 3.0 |
|
B | |
| 23736 | chr2 | 140716042 | G | A |
c.5954C>T
|
p.Ser1985Phe
|
3.0 |
|
B | ||
| 10372 | chr2 | 140716054 | C | A |
c.5942G>T
|
p.Arg1981Ile
|
- | 3.0 |
|
B | |
| 34541 | chr2 | 140716085 | C | T |
c.5911G>A
|
p.Asp1971Asn
|
3.0 |
|
B | ||
| 11729 | chr2 | 140716113 | T | C |
c.5894-11A>G
|
-
|
- | 3.0 |
|
B | |
| 31245 | chr2 | 140716683 | A | T |
c.5892T>A
|
p.Ala1964=
|
- | 3.0 |
|
B | |
| 31640 | chr2 | 140716697 | C | A |
c.5878G>T
|
p.Val1960Phe
|
- | 3.0 |
|
B | |
| 7732 | chr2 | 140716719 | C | A |
c.5856G>T
|
p.Leu1952Phe
|
- | 3.0 |
|
B | |
| 2198 | chr2 | 140716742 | C | T |
c.5833G>A
|
p.Glu1945Lys
|
- | 3.0 |
|
B | |
| 2218 | chr2 | 140716817 | C | A |
c.5759-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 7511 | chr2 | 140769335 | G | A |
c.5636C>T
|
p.Ser1879Leu
|
3.0 |
|
B | ||
| 30974 | chr2 | 140769364 | T | C |
c.5627-20A>G
|
-
|
3.0 |
|
B | ||
| 2000 | chr2 | 140770984 | G | T |
c.5523C>A
|
p.Asn1841Lys
|
- | 3.0 |
|
B | |
| 10477 | chr2 | 140770997 | G | T |
c.5510C>A
|
p.Ser1837Tyr
|
- | 3.0 |
|
B | |
| 28890 | chr2 | 140776116 | C | T |
c.5482G>A
|
p.Asp1828Asn
|
- | 3.0 |
|
B | |
| 22712 | chr2 | 140776145 | G | T |
c.5453C>A
|
p.Thr1818Asn
|
- | 3.0 |
|
B | |
| 18279 | chr2 | 140776196 | C | T |
c.5402G>A
|
p.Gly1801Glu
|
- | 3.0 |
|
B |