Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25644 | chr17 | 5139458 | G | A |
c.1282G>A
|
p.Gly428Ser
|
3.0 |
|
B | ||
| 33824 | chr17 | 5139538 | G | T |
c.1362G>T
|
p.Met454Ile
|
- | 3.0 |
|
B | |
| 27187 | chr17 | 5139691 | C | T |
c.1498+17C>T
|
-
|
- | 3.0 |
|
B | |
| 19338 | chr17 | 5142058 | G | A |
c.1629G>A
|
p.Met543Ile
|
3.0 |
|
B | ||
| 33658 | chr17 | 5142131 | G | A |
c.1702G>A
|
p.Glu568Lys
|
- | 3.0 |
|
B | |
| 12760 | chr17 | 5142381 | C | T |
c.1713-16C>T
|
-
|
- | 3.0 |
|
B | |
| 23234 | chr17 | 5142386 | C | G |
c.1713-11C>G
|
-
|
- | 3.0 |
|
B | |
| 27427 | chr17 | 5142471 | C | G |
c.1787C>G
|
p.Thr596Ser
|
3.0 |
|
B | ||
| 24505 | chr17 | 5144680 | A | C |
c.1819-10A>C
|
-
|
- | 3.0 |
|
B | |
| 23527 | chr17 | 5144697 | T | C |
c.1826T>C
|
p.Ile609Thr
|
3.0 |
|
B | ||
| 13743 | chr17 | 5144744 | C | T |
c.1873C>T
|
p.Gln625Ter
|
3.0 |
|
B | ||
| 21174 | chr17 | 5144792 | C | T |
c.1921C>T
|
p.Arg641Ter
|
3.0 |
|
B | ||
| 30369 | chr17 | 5144838 | G | A |
c.1967G>A
|
p.Arg656Gln
|
3.0 |
|
B | ||
| 20142 | chr17 | 5145526 | AT | A |
c.2120del
|
p.Leu707CysfsTer13
|
- | 3.0 |
|
B | |
| 15321 | chr17 | 5146095 | T | TA |
c.2247dup
|
p.Gln750ThrfsTer9
|
- | 3.0 |
|
B | |
| 30199 | chr17 | 5148553 | T | G |
c.2432-3T>G
|
-
|
- | 3.0 |
|
B | |
| 20973 | chr17 | 5155431 | G | A |
c.2653G>A
|
p.Glu885Lys
|
3.0 |
|
B | ||
| 30655 | chr17 | 5168876 | G | A |
c.3338G>A
|
p.Arg1113Gln
|
3.0 |
|
B | ||
| 21162 | chr17 | 5170656 | G | A |
c.3695G>A
|
p.Gly1232Glu
|
- | 3.0 |
|
B | |
| 29727 | chr17 | 5170808 | G | A |
c.3847G>A
|
p.Asp1283Asn
|
3.0 |
|
B |