Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20862 | chr2 | 201286547 | CAGCCTACTTTCACACTAAGAAAAAAACT | C |
c.1394_1421del
-
|
p.Gln465LeufsTer72
-
|
- | 4.0 |
|
B | |
| 8684 | chr2 | 201286566 | G | GA |
c.1419dup
-
|
p.Leu474ThrfsTer6
-
|
- | 4.0 |
|
B | |
| 24347 | chr2 | 201286566 | GA | G |
c.1419del
-
|
p.Lys473AsnfsTer73
-
|
- | 4.0 |
|
B | |
| 34221 | chr2 | 201289496 | TGCTTATA | T |
-
c.1096_1102del
|
-
p.Tyr366ThrfsTer6
|
- | 4.0 |
|
B | |
| 4051 | chr2 | 201709977 | C | T |
c.4184G>A
|
p.Arg1395Lys
|
3.0 |
|
B | ||
| 3524 | chr2 | 201807539 | C | T |
c.169C>T
|
p.Pro57Ser
|
- | 3.0 |
|
B | |
| 3525 | chr2 | 202097515 | C | T |
c.766C>T
|
p.Gln256Ter
|
- | 3.0 |
|
B | |
| 20292 | chr2 | 202555406 | GA | G |
c.1748del
|
p.Asn583ThrfsTer44
|
3.0 |
|
B | ||
| 6188 | chr2 | 203057334 | CA | C |
c.405del
|
p.Glu136ArgfsTer14
|
3.0 |
|
B | ||
| 20293 | chr2 | 203057334 | CAA | C |
c.404_405del
|
p.Lys135ArgfsTer11
|
- | 3.0 |
|
B | |
| 15796 | chr2 | 203726616 | AT | A |
c.53-8del
|
-
|
2.0 |
|
B | ||
| 21911 | chr2 | 203726626 | C | T |
c.53-7C>T
|
-
|
3.0 |
|
B | ||
| 32779 | chr2 | 203726638 | A | C |
c.58A>C
|
p.Lys20Gln
|
- | 3.0 |
|
B | |
| 18717 | chr2 | 203729683 | C | A |
c.445C>A
|
p.Pro149Thr
|
3.0 |
|
B | ||
| 25938 | chr2 | 203734904 | C | T |
c.655C>T
|
p.Arg219Cys
|
3.0 |
|
B | ||
| 11303 | chr2 | 203867929 | G | A |
c.-14G>A
|
-
|
3.0 |
|
B | ||
| 18673 | chr2 | 203868046 | G | T |
c.104G>T
|
p.Cys35Phe
|
- | 3.0 |
|
B | |
| 2968 | chr2 | 203870636 | G | A |
c.160G>A
|
p.Ala54Thr
|
3.0 |
|
B | ||
| 29611 | chr2 | 203870687 | G | A |
c.211G>A
|
p.Val71Met
|
- | 3.0 |
|
B | |
| 10304 | chr2 | 203870779 | C | T |
c.303C>T
|
p.Ser101=
|
- | 3.0 |
|
B |