Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11808 | chr2 | 189009060 | G | A |
c.3662G>A
|
p.Gly1221Glu
|
- | 3.0 |
|
B | |
| 6413 | chr2 | 189009092 | G | A |
c.3694G>A
|
p.Asp1232Asn
|
2.5 |
|
B | ||
| 9272 | chr2 | 189009161 | C | T |
c.3763C>T
|
p.Arg1255Cys
|
3.0 |
|
B | ||
| 9502 | chr2 | 189009188 | G | A |
c.3790G>A
|
p.Asp1264Asn
|
- | 3.0 |
|
B | |
| 8377 | chr2 | 189010204 | G | A |
c.3850G>A
|
p.Gly1284Arg
|
- | 3.0 |
|
B | |
| 17767 | chr2 | 189010306 | G | A |
c.3952G>A
|
p.Asp1318Asn
|
3.0 |
|
B | ||
| 10700 | chr2 | 189010365 | G | T |
c.4011G>T
|
p.Gln1337His
|
- | 3.0 |
|
B | |
| 10635 | chr2 | 189010385 | T | C |
c.4011+20T>C
|
-
|
- | 3.0 |
|
B | |
| 21607 | chr2 | 189010727 | C | T |
c.4091C>T
|
p.Ala1364Val
|
- | 3.0 |
|
B | |
| 4677 | chr2 | 189010738 | A | G |
c.4102A>G
|
p.Ile1368Val
|
- | 3.0 |
|
B | |
| 11278 | chr2 | 189010846 | G | T |
c.4210G>T
|
p.Gly1404Ter
|
- | 3.0 |
|
B | |
| 21608 | chr2 | 189010847 | G | A |
c.4211G>A
|
p.Gly1404Glu
|
- | 3.0 |
|
B | |
| 9795 | chr2 | 189010866 | C | A |
c.4230C>A
|
p.Tyr1410Ter
|
- | 3.0 |
|
B | |
| 27511 | chr2 | 189010895 | G | A |
c.4254+5G>A
|
-
|
- | 3.0 |
|
B | |
| 3830 | chr2 | 189011642 | A | T |
c.4269A>T
|
p.Glu1423Asp
|
- | 3.0 |
|
B | |
| 11668 | chr2 | 189011667 | C | T |
c.4294C>T
|
p.Arg1432Ter
|
3.0 |
|
B | ||
| 21481 | chr2 | 189011674 | G | A |
c.4301G>A
|
p.Arg1434His
|
2.5 |
|
B | ||
| 28683 | chr2 | 189011689 | T | C |
c.4316T>C
|
p.Leu1439Pro
|
- | 3.0 |
|
B | |
| 2606 | chr2 | 189011743 | G | A |
c.4370G>A
|
p.Gly1457Asp
|
3.0 |
|
B | ||
| 14087 | chr2 | 189791812 | G | T |
c.3G>T
|
p.Met1?
|
- | 3.5 |
|
B |