Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13517 | chr2 | 140776209 | A | C |
c.5389T>G
|
p.Leu1797Val
|
- | 3.0 |
|
B | |
| 27388 | chr2 | 140776223 | C | T |
c.5375G>A
|
p.Trp1792Ter
|
4.0 |
|
B | ||
| 29604 | chr2 | 140813729 | C | T |
c.5287G>A
|
p.Asp1763Asn
|
3.0 |
|
B | ||
| 17 | chr2 | 140813769 | C | T |
c.5247G>A
|
p.Trp1749Ter
|
- | 4.44 |
|
S | |
| 22443 | chr2 | 140839975 | TA | T |
c.5209+15del
|
-
|
3.0 |
|
B | ||
| 23434 | chr2 | 140840039 | C | A |
c.5161G>T
|
p.Asp1721Tyr
|
- | 3.0 |
|
B | |
| 7248 | chr2 | 140840046 | TG | T |
c.5153del
|
p.Ala1718GlufsTer23
|
- | 4.0 |
|
B | |
| 11113 | chr2 | 140840069 | C | T |
c.5131G>A
|
p.Asp1711Asn
|
3.0 |
|
B | ||
| 18057 | chr2 | 140840100 | C | A |
c.5115-15G>T
|
-
|
- | 3.5 |
|
B | |
| 23848 | chr2 | 140840920 | C | A |
c.5112G>T
|
p.Arg1704Ser
|
- | 3.0 |
|
B | |
| 33338 | chr2 | 140840951 | T | G |
c.5081A>C
|
p.Lys1694Thr
|
- | 3.0 |
|
B | |
| 1514 | chr2 | 140840964 | G | A |
c.5068C>T
|
p.His1690Tyr
|
- | 3.0 |
|
B | |
| 2984 | chr2 | 140840972 | G | C |
c.5060C>G
|
p.Ser1687Ter
|
- | 4.0 |
|
B | |
| 22020 | chr2 | 140841014 | G | A |
c.5018C>T
|
p.Thr1673Met
|
3.0 |
|
B | ||
| 10814 | chr2 | 140841048 | T | A |
c.4984A>T
|
p.Asn1662Tyr
|
- | 3.0 |
|
B | |
| 4001 | chr2 | 140850101 | C | T |
c.4939+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 34000 | chr2 | 140850102 | C | A |
c.4939G>T
|
p.Asp1647Tyr
|
- | 3.0 |
|
B | |
| 15534 | chr2 | 140850146 | C | T |
c.4895G>A
|
p.Arg1632Gln
|
3.0 |
|
B | ||
| 4534 | chr2 | 140850179 | T | C |
c.4862A>G
|
p.Tyr1621Cys
|
- | 3.0 |
|
B | |
| 3256 | chr2 | 140850219 | C | G |
c.4822G>C
|
p.Val1608Leu
|
3.0 |
|
B |