Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27602 | chr18 | 58044703 | G | C |
c.43G>C
|
p.Asp15His
|
- | 3.0 |
|
B | |
| 22608 | chr18 | 58248941 | A | C |
c.243+4A>C
|
-
|
- | 3.0 |
|
B | |
| 14357 | chr18 | 58256129 | G | A |
c.297+4075G>A
|
-
|
- | 3.0 |
|
B | |
| 27194 | chr18 | 58256200 | C | G |
c.297+4146C>G
|
-
|
- | 3.0 |
|
B | |
| 18178 | chr18 | 58256317 | C | T |
c.297+4263C>T
|
-
|
3.0 |
|
B | ||
| 29669 | chr18 | 58256331 | C | T |
c.297+4277C>T
|
-
|
- | 3.0 |
|
B | |
| 22951 | chr18 | 58256612 | G | A |
c.297+4558G>A
|
-
|
- | 3.0 |
|
B | |
| 17650 | chr18 | 58323316 | C | A |
c.495C>A
|
p.Asp165Glu
|
- | 3.0 |
|
B | |
| 5108 | chr18 | 58323331 | G | A |
c.510G>A
|
p.Met170Ile
|
- | 3.0 |
|
B | |
| 9647 | chr18 | 58325069 | C | T |
c.587C>T
|
p.Pro196Leu
|
- | 3.0 |
|
B | |
| 1948 | chr18 | 58329098 | G | A |
c.784G>A
|
p.Glu262Lys
|
2.0 |
|
B | ||
| 7220 | chr18 | 58330786 | G | A |
c.862G>A
|
p.Gly288Ser
|
3.0 |
|
B | ||
| 26008 | chr18 | 58333822 | G | C |
c.995G>C
|
p.Arg332Thr
|
- | 3.0 |
|
B | |
| 25895 | chr18 | 58335473 | C | G |
c.1066-5C>G
|
-
|
- | 3.0 |
|
B | |
| 5342 | chr18 | 58341699 | G | T |
c.1279G>T
|
p.Gly427Ter
|
- | 3.0 |
|
B | |
| 24584 | chr18 | 58341787 | C | T |
c.1367C>T
|
p.Ala456Val
|
3.0 |
|
B | ||
| 21429 | chr18 | 58343075 | T | C |
c.1547T>C
|
p.Ile516Thr
|
3.0 |
|
B | ||
| 31489 | chr18 | 58343080 | C | T |
c.1552C>T
|
p.His518Tyr
|
- | 3.0 |
|
B | |
| 29104 | chr18 | 58349615 | G | A |
c.1653+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 9220 | chr18 | 58364295 | C | G |
c.1795C>G
|
p.Gln599Glu
|
- | 3.0 |
|
B |