Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3282 | chr2 | 241127134 | T | TGCCG |
c.1780_1781insCGGC
|
p.Lys594ThrfsTer24
|
- | 3.0 |
|
B | |
| 3283 | chr2 | 241127140 | ACGGC | A |
c.1771_1774del
|
p.Ala591TrpfsTer16
|
- | 3.0 |
|
B | |
| 25794 | chr2 | 241851076 | G | C |
c.849C>G
|
p.His283Gln
|
- | 3.0 |
|
B | |
| 4628 | chr2 | 241851135 | G | A |
c.790C>T
|
p.Arg264Cys
|
3.0 |
|
B | ||
| 18288 | chr2 | 241851140 | G | A |
c.785C>T
|
p.Pro262Leu
|
- | 3.0 |
|
B | |
| 17769 | chr2 | 241851186 | C | T |
c.739G>A
|
p.Glu247Lys
|
- | 3.0 |
|
B | |
| 9577 | chr2 | 241851233 | C | T |
c.692G>A
|
p.Arg231Gln
|
3.0 |
|
B | ||
| 27581 | chr2 | 241851261 | C | T |
c.664G>A
|
p.Asp222Asn
|
- | 3.0 |
|
B | |
| 7103 | chr2 | 241851279 | C | T |
c.646G>A
|
p.Val216Met
|
3.0 |
|
B | ||
| 13184 | chr2 | 241851966 | G | A |
c.610C>T
|
p.Arg204Cys
|
3.0 |
|
B | ||
| 14773 | chr2 | 241852222 | C | T |
c.568G>A
|
p.Val190Ile
|
3.0 |
|
B | ||
| 10332 | chr2 | 241852233 | C | T |
c.557G>A
|
p.Trp186Ter
|
- | 3.0 |
|
B | |
| 35482 | chr2 | 241852747 | G | A |
c.310C>T
|
p.Arg104Cys
|
- | 3.0 |
|
B | |
| 7819 | chr2 | 241852801 | G | A |
c.256C>T
|
p.Arg86Cys
|
3.0 |
|
B | ||
| 2925 | chr2 | 241852867 | C | T |
c.190G>A
|
p.Val64Met
|
3.0 |
|
B | ||
| 2769 | chr2 | 241852878 | G | C |
c.179C>G
|
p.Ser60Trp
|
3.0 |
|
B | ||
| 8887 | chr2 | 241852954 | G | A |
c.103C>T
|
p.Pro35Ser
|
- | 3.0 |
|
B | |
| 30220 | chr2 | 241852993 | G | A |
c.77-13C>T
|
-
|
3.0 |
|
B | ||
| 19168 | chr3 | 3145465 | C | T |
-
c.608+755C>T
|
-
-
|
3.0 |
|
B | ||
| 20298 | chr3 | 3150965 | G | A |
c.1229C>T
-
|
p.Ser410Leu
-
|
- | 3.0 |
|
B |