Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8509 | chr2 | 157760890 | C | T |
c.1254G>A
|
p.Met418Ile
|
- | 3.0 |
|
B | |
| 16572 | chr2 | 157760907 | C | T |
c.1237G>A
|
p.Glu413Lys
|
- | 3.0 |
|
B | |
| 21108 | chr2 | 157760921 | C | T |
c.1223G>A
|
p.Gly408Glu
|
- | 3.0 |
|
B | |
| 137 | chr2 | 157766004 | C | A |
c.983G>T
|
p.Gly328Val
|
4.67 |
|
A | ||
| 8041 | chr2 | 157766004 | C | T |
c.983G>A
|
p.Gly328Glu
|
4.0 |
|
B | ||
| 34436 | chr2 | 157770440 | GGGA | G |
c.715_717del
|
p.Ser239del
|
- | 3.0 |
|
B | |
| 138 | chr2 | 157774114 | C | T |
c.617G>A
|
p.Arg206His
|
4.67 |
|
A | ||
| 13677 | chr2 | 157778156 | G | T |
c.518C>A
|
p.Thr173Asn
|
- | 3.0 |
|
B | |
| 11667 | chr2 | 157778195 | C | T |
c.479G>A
|
p.Arg160Gln
|
3.0 |
|
B | ||
| 25147 | chr2 | 157780429 | G | A |
c.239C>T
|
p.Thr80Ile
|
- | 3.0 |
|
B | |
| 3413 | chr2 | 158661350 | G | A |
c.2111G>A
|
p.Gly704Glu
|
- | 3.0 |
|
B | |
| 11275 | chr2 | 164508777 | GT | G |
c.891del
|
p.Lys297AsnfsTer23
|
3.0 |
|
B | ||
| 19390 | chr2 | 164694785 | CA | C |
c.2606del
|
p.Leu869CysfsTer12
|
3.0 |
|
B | ||
| 3383 | chr2 | 165155779 | C | T |
c.1156G>A
|
p.Glu386Lys
|
3.0 |
|
B | ||
| 5734 | chr2 | 166272524 | C | G |
c.3226G>C
|
p.Gly1076Arg
|
- | 3.0 |
|
B | |
| 4636 | chr2 | 167244928 | G | A |
c.3536G>A
|
p.Gly1179Glu
|
- | 3.0 |
|
B | |
| 4478 | chr2 | 167247510 | G | A |
c.6118G>A
|
p.Glu2040Lys
|
3.0 |
|
B | ||
| 25178 | chr2 | 168923745 | C | G |
c.3843G>C
|
p.Gln1281His
|
3.0 |
|
B | ||
| 12154 | chr2 | 168924730 | C | T |
c.3692G>A
|
p.Arg1231Gln
|
3.0 |
|
B | ||
| 27790 | chr2 | 168924746 | G | A |
c.3676C>T
|
p.Arg1226Cys
|
3.0 |
|
B |