Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15928 | chr2 | 178719371 | G | A |
c.24019C>T
|
p.Arg8007Ter
|
3.0 |
|
B | ||
| 26520 | chr2 | 178719395 | C | G |
c.23995G>C
|
p.Gly7999Arg
|
- | 3.0 |
|
B | |
| 22267 | chr2 | 178719449 | G | A |
c.23941C>T
|
p.Arg7981Trp
|
3.0 |
|
B | ||
| 14878 | chr2 | 178719778 | G | A |
c.23714C>T
|
p.Pro7905Leu
|
- | 3.0 |
|
B | |
| 16576 | chr2 | 178719784 | C | T |
c.23708G>A
|
p.Gly7903Glu
|
3.0 |
|
B | ||
| 21369 | chr2 | 178719827 | C | T |
c.23665G>A
|
p.Ala7889Thr
|
3.0 |
|
B | ||
| 17763 | chr2 | 178720025 | C | T |
c.23617G>A
|
p.Asp7873Asn
|
3.0 |
|
B | ||
| 14442 | chr2 | 178720140 | T | G |
c.23502A>C
|
p.Glu7834Asp
|
- | 3.0 |
|
B | |
| 22268 | chr2 | 178720184 | C | T |
c.23458G>A
|
p.Gly7820Ser
|
- | 3.0 |
|
B | |
| 30471 | chr2 | 178720270 | G | A |
c.23378-6C>T
|
-
|
- | 3.0 |
|
B | |
| 30472 | chr2 | 178720420 | C | T |
c.23342G>A
|
p.Gly7781Glu
|
3.0 |
|
B | ||
| 33373 | chr2 | 178720460 | C | T |
c.23302G>A
|
p.Asp7768Asn
|
2.0 |
|
B | ||
| 16095 | chr2 | 178720517 | T | C |
c.23245A>G
|
p.Lys7749Glu
|
- | 3.0 |
|
B | |
| 14316 | chr2 | 178720585 | G | A |
c.23177C>T
|
p.Ser7726Leu
|
2.0 |
|
B | ||
| 23446 | chr2 | 178720610 | C | T |
c.23152G>A
|
p.Asp7718Asn
|
- | 3.0 |
|
B | |
| 27827 | chr2 | 178720680 | G | T |
c.23099-17C>A
|
-
|
- | 3.0 |
|
B | |
| 34427 | chr2 | 178720920 | C | T |
c.23098+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 31726 | chr2 | 178720990 | C | T |
c.23029G>A
|
p.Gly7677Arg
|
2.0 |
|
B | ||
| 31060 | chr2 | 178721002 | C | T |
c.23017G>A
|
p.Ala7673Thr
|
- | 3.0 |
|
B | |
| 22269 | chr2 | 178721842 | G | A |
c.22816+5C>T
|
-
|
- | 3.0 |
|
B |