Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14257 | chr2 | 27239395 | C | T |
c.5318C>T
|
p.Pro1773Leu
|
- | 3.0 |
|
B | |
| 2035 | chr2 | 27239442 | C | T |
c.5365C>T
|
p.Arg1789Ter
|
3.0 |
|
B | ||
| 26919 | chr2 | 27239804 | C | T |
c.5496+6C>T
|
-
|
- | 3.0 |
|
B | |
| 24816 | chr2 | 27241204 | G | A |
c.5785G>A
|
p.Val1929Ile
|
3.0 |
|
B | ||
| 26020 | chr2 | 27241355 | C | T |
c.5842C>T
|
p.Arg1948Cys
|
- | 3.0 |
|
B | |
| 18219 | chr2 | 27242033 | G | C |
c.6006G>C
|
p.Gln2002His
|
- | 3.0 |
|
B | |
| 6525 | chr2 | 27242100 | C | T |
c.6073C>T
|
p.His2025Tyr
|
- | 3.0 |
|
B | |
| 18220 | chr2 | 27242356 | G | C |
c.6151G>C
|
p.Glu2051Gln
|
- | 3.0 |
|
B | |
| 34982 | chr2 | 27242403 | G | T |
c.6198G>T
|
p.Glu2066Asp
|
- | 3.0 |
|
B | |
| 23606 | chr2 | 27242762 | G | A |
c.6365G>A
|
p.Arg2122His
|
3.0 |
|
B | ||
| 26693 | chr2 | 27242789 | A | G |
c.6378+14A>G
|
-
|
2.0 |
|
B | ||
| 5353 | chr2 | 27243454 | G | A |
c.6614G>A
|
p.Arg2205His
|
3.0 |
|
B | ||
| 4897 | chr2 | 27243480 | C | A |
c.6640C>A
|
p.Arg2214Ser
|
- | 3.0 |
|
B | |
| 5155 | chr2 | 28851104 | A | T |
c.1280T>A
-
|
p.Val427Asp
-
|
- | 3.0 |
|
B | |
| 3844 | chr2 | 29193251 | C | G |
c.4836G>C
|
p.Lys1612Asn
|
2.5 |
|
B | ||
| 11287 | chr2 | 29193292 | G | A |
c.4795C>T
|
p.Pro1599Ser
|
2.5 |
|
B | ||
| 6152 | chr2 | 29193325 | G | T |
c.4762C>A
|
p.Gln1588Lys
|
- | 3.0 |
|
B | |
| 34755 | chr2 | 29193435 | G | A |
c.4652C>T
|
p.Pro1551Leu
|
3.0 |
|
B | ||
| 14557 | chr2 | 29193669 | C | A |
c.4418G>T
|
p.Gly1473Val
|
- | 3.0 |
|
B | |
| 9763 | chr2 | 29193682 | GC | G |
c.4404del
|
p.Pro1469ArgfsTer8
|
- | 3.0 |
|
B |