Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26374 | chr13 | 52011335 | C | A |
c.3G>T
-
|
p.Met1?
-
|
- | 3.0 |
|
B | |
| 4852 | chr13 | 53034475 | AG | A |
c.333del
|
p.Lys112SerfsTer9
|
- | 3.0 |
|
B | |
| 7142 | chr13 | 72759824 | T | A |
c.2848A>T
-
|
p.Lys950Ter
-
|
- | 3.5 |
|
B | |
| 9419 | chr13 | 72760639 | T | A |
c.2683A>T
-
|
p.Lys895Ter
-
|
- | 3.5 |
|
B | |
| 18866 | chr13 | 72761524 | G | T |
c.2512-3C>A
|
-
|
- | 3.0 |
|
B | |
| 6789 | chr13 | 72761712 | T | A |
c.2445A>T
|
p.Lys815Asn
|
- | 3.0 |
|
B | |
| 27438 | chr13 | 72768783 | A | G |
c.1883+2T>C
|
p.?
|
3.5 |
|
B | ||
| 9363 | chr13 | 72768786 | C | T |
c.1882G>A
|
p.Gly628Arg
|
- | 3.0 |
|
B | |
| 30291 | chr13 | 72771061 | A | G |
c.1670+20T>C
|
-
|
- | 3.0 |
|
B | |
| 13858 | chr13 | 72771068 | C | T |
c.1670+13G>A
|
-
|
- | 3.0 |
|
B | |
| 5905 | chr13 | 72772266 | T | C |
c.1396A>G
|
p.Asn466Asp
|
- | 3.0 |
|
B | |
| 15681 | chr13 | 72772767 | C | T |
c.1312G>A
|
p.Asp438Asn
|
2.5 |
|
B | ||
| 32747 | chr13 | 72775330 | C | T |
c.868G>A
|
p.Asp290Asn
|
3.0 |
|
B | ||
| 14391 | chr13 | 72776049 | G | A |
c.698C>T
|
p.Pro233Leu
|
- | 3.0 |
|
B | |
| 14109 | chr13 | 72776092 | T | A |
c.655A>T
|
p.Asn219Tyr
|
- | 3.0 |
|
B | |
| 12834 | chr13 | 72778392 | G | A |
c.387-12C>T
-
|
-
-
|
3.0 |
|
B | ||
| 6330 | chr13 | 73075767 | G | C |
c.1255G>C
|
p.Glu419Gln
|
- | 3.5 |
|
B | |
| 4448 | chr13 | 77090120 | T | G |
c.10511A>C
|
p.Asn3504Thr
|
- | 3.0 |
|
B | |
| 7916 | chr13 | 77901188 | T | A |
c.821A>T
|
p.Asp274Val
|
3.0 |
|
B | ||
| 4743 | chr13 | 78616713 | C | T |
c.1048G>A
|
p.Glu350Lys
|
- | 3.0 |
|
B |