Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32007 | chr2 | 178588211 | C | A |
c.63196G>T
|
p.Gly21066Cys
|
- | 3.0 |
|
B | |
| 31202 | chr2 | 178588534 | C | T |
c.63187+4G>A
|
-
|
3.0 |
|
B | ||
| 23690 | chr2 | 178588670 | G | A |
c.63055C>T
|
p.Pro21019Ser
|
- | 3.0 |
|
B | |
| 33313 | chr2 | 178588946 | G | A |
c.62779C>T
|
p.Arg20927Cys
|
3.0 |
|
B | ||
| 28800 | chr2 | 178589002 | C | T |
c.62723G>A
|
p.Arg20908Gln
|
2.0 |
|
B | ||
| 33688 | chr2 | 178589050 | C | T |
c.62675G>A
|
p.Gly20892Asp
|
- | 3.0 |
|
B | |
| 8283 | chr2 | 178589149 | A | G |
c.62576T>C
|
p.Val20859Ala
|
- | 3.0 |
|
B | |
| 18064 | chr2 | 178589218 | C | T |
c.62507G>A
|
p.Arg20836Gln
|
2.5 |
|
B | ||
| 19964 | chr2 | 178589231 | T | C |
c.62494A>G
|
p.Thr20832Ala
|
- | 3.0 |
|
B | |
| 14625 | chr2 | 178589243 | T | C |
c.62482A>G
|
p.Lys20828Glu
|
- | 3.0 |
|
B | |
| 22493 | chr2 | 178589430 | G | T |
c.62295C>A
|
p.Asp20765Glu
|
- | 3.0 |
|
B | |
| 29605 | chr2 | 178589579 | C | T |
c.62146G>A
|
p.Glu20716Lys
|
- | 3.0 |
|
B | |
| 21295 | chr2 | 178589678 | T | G |
c.62047A>C
|
p.Thr20683Pro
|
- | 3.0 |
|
B | |
| 33314 | chr2 | 178589803 | C | T |
c.61922G>A
|
p.Arg20641Gln
|
2.0 |
|
B | ||
| 13293 | chr2 | 178589831 | G | T |
c.61894C>A
|
p.Leu20632Ile
|
- | 3.0 |
|
B | |
| 13371 | chr2 | 178590006 | GC | G |
c.61718del
|
p.Cys20573SerfsTer4
|
- | 3.0 |
|
B | |
| 13372 | chr2 | 178590010 | G | A |
c.61715C>T
|
p.Pro20572Leu
|
- | 3.0 |
|
B | |
| 13415 | chr2 | 178590058 | C | T |
c.61667G>A
|
p.Gly20556Glu
|
3.0 |
|
B | ||
| 26270 | chr2 | 178590122 | G | T |
c.61603C>A
|
p.Gln20535Lys
|
- | 3.0 |
|
B | |
| 20549 | chr2 | 178590349 | C | T |
c.61376G>A
|
p.Arg20459Lys
|
- | 3.0 |
|
B |