Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1869 | chr1 | 17028600 | G | A |
c.423C>T
|
p.Pro141=
|
2.0 |
|
B | ||
| 12051 | chr1 | 17028692 | G | C |
c.331C>G
|
p.Leu111Val
|
3.0 |
|
B | ||
| 14888 | chr1 | 17587483 | C | T |
c.61C>T
|
p.Pro21Ser
|
- | 3.0 |
|
B | |
| 34423 | chr1 | 17602122 | C | T |
c.258-5C>T
|
-
|
3.0 |
|
B | ||
| 28368 | chr1 | 17603592 | G | A |
c.433+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 21809 | chr1 | 17616091 | C | G |
c.727-3C>G
|
-
|
- | 3.0 |
|
B | |
| 32844 | chr1 | 17616184 | C | T |
c.817C>T
|
p.His273Tyr
|
3.0 |
|
B | ||
| 18764 | chr1 | 17616214 | C | T |
c.835+12C>T
|
-
|
- | 3.0 |
|
B | |
| 16024 | chr1 | 17616217 | G | A |
c.835+15G>A
|
-
|
3.0 |
|
B | ||
| 14568 | chr1 | 17618499 | C | T |
c.836-840C>T
|
-
|
- | 3.0 |
|
B | |
| 22069 | chr1 | 17621919 | A | T |
c.998A>T
|
p.Glu333Val
|
- | 3.0 |
|
B | |
| 28675 | chr1 | 17621945 | C | T |
c.1020+4C>T
|
-
|
3.0 |
|
B | ||
| 23148 | chr1 | 17623015 | T | G |
c.1040T>G
|
p.Met347Arg
|
- | 3.0 |
|
B | |
| 84 | chr1 | 17624387 | T | C |
c.1201T>C
|
p.Phe401Leu
|
- | 4.33 |
|
A | |
| 16666 | chr1 | 17634942 | G | A |
c.1853G>A
|
p.Gly618Asp
|
- | 3.0 |
|
B | |
| 34752 | chr1 | 17637902 | G | A |
c.1942G>A
|
p.Gly648Ser
|
3.0 |
|
B | ||
| 24858 | chr1 | 17638013 | C | G |
c.2043+10C>G
|
-
|
- | 3.0 |
|
B | |
| 34368 | chr1 | 17655957 | T | G |
c.2560T>G
|
p.Ser854Ala
|
- | 3.0 |
|
B | |
| 33806 | chr1 | 17664530 | G | GA |
c.2945dup
|
p.Asp982GlufsTer61
|
- | 4.0 |
|
B | |
| 33300 | chr1 | 17687666 | T | G |
c.3103T>G
|
p.Ser1035Ala
|
- | 3.0 |
|
B |