Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13826 | chr17 | 79794862 | T | TCTG |
c.942_943insCAG
|
p.Pro314_Ser315insGln
|
- | 3.0 |
|
B | |
| 22392 | chr17 | 79795247 | A | C |
c.558T>G
|
p.Asp186Glu
|
- | 3.0 |
|
B | |
| 18611 | chr17 | 79795372 | C | T |
c.433G>A
|
p.Glu145Lys
|
- | 3.0 |
|
B | |
| 18813 | chr17 | 79795452 | G | A |
c.353C>T
|
p.Ser118Phe
|
- | 3.0 |
|
B | |
| 25724 | chr17 | 79796049 | C | A |
c.246+8G>T
|
-
|
- | 3.0 |
|
B | |
| 13319 | chr17 | 79796074 | TG | T |
c.228del
|
p.Thr78ProfsTer138
|
- | 3.0 |
|
B | |
| 33449 | chr17 | 80097254 | G | A |
c.3031G>A
-
|
p.Glu1011Lys
-
|
3.0 |
|
B | ||
| 31930 | chr17 | 80105746 | T | C |
c.547-3T>C
|
-
|
- | 3.0 |
|
B | |
| 30048 | chr17 | 80105851 | C | T |
c.649C>T
|
p.Pro217Ser
|
3.0 |
|
B | ||
| 29411 | chr17 | 80107911 | G | A |
c.955+15G>A
|
-
|
2.0 |
|
B | ||
| 24919 | chr17 | 80110029 | G | A |
c.1411G>A
|
p.Glu471Lys
|
2.5 |
|
B | ||
| 15370 | chr17 | 80110717 | C | T |
c.1438-10C>T
|
-
|
2.0 |
|
B | ||
| 22393 | chr17 | 80111989 | T | C |
c.1643T>C
|
p.Val548Ala
|
3.0 |
|
B | ||
| 25590 | chr17 | 80111997 | A | G |
c.1651A>G
|
p.Thr551Ala
|
- | 3.0 |
|
B | |
| 14289 | chr17 | 80112009 | G | A |
c.1663G>A
|
p.Ala555Thr
|
- | 3.0 |
|
B | |
| 33190 | chr17 | 80112572 | C | G |
c.1755-6C>G
|
-
|
- | 3.0 |
|
B | |
| 28200 | chr17 | 80112920 | G | A |
c.1933G>A
|
p.Asp645Asn
|
3.0 |
|
B | ||
| 20468 | chr17 | 80112983 | G | T |
c.1996G>T
|
p.Ala666Ser
|
3.0 |
|
B | ||
| 14272 | chr17 | 80113001 | C | A |
c.2014C>A
|
p.Arg672=
|
- | 3.0 |
|
B | |
| 33621 | chr17 | 80113002 | G | A |
c.2015G>A
|
p.Arg672Gln
|
3.0 |
|
B |