Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16012 | chr2 | 178573416 | A | G |
c.72716T>C
|
p.Met24239Thr
|
3.0 |
|
B | ||
| 33484 | chr2 | 178573600 | G | A |
c.72532C>T
|
p.Gln24178Ter
|
- | 3.0 |
|
B | |
| 28401 | chr2 | 178573750 | C | A |
c.72382G>T
|
p.Gly24128Ter
|
- | 3.0 |
|
B | |
| 33785 | chr2 | 178573815 | T | G |
c.72317A>C
|
p.Asn24106Thr
|
3.0 |
|
B | ||
| 17222 | chr2 | 178573921 | C | T |
c.72211G>A
|
p.Glu24071Lys
|
- | 3.0 |
|
B | |
| 22833 | chr2 | 178574035 | C | T |
c.72097G>A
|
p.Val24033Ile
|
3.0 |
|
B | ||
| 14624 | chr2 | 178574191 | C | T |
c.71941G>A
|
p.Glu23981Lys
|
2.0 |
|
B | ||
| 4479 | chr2 | 178574529 | C | T |
c.71603G>A
|
p.Arg23868Gln
|
3.0 |
|
B | ||
| 15921 | chr2 | 178574616 | G | C |
c.71516C>G
|
p.Thr23839Ser
|
- | 3.0 |
|
B | |
| 16573 | chr2 | 178574664 | G | A |
c.71468C>T
|
p.Pro23823Leu
|
- | 3.0 |
|
B | |
| 18552 | chr2 | 178574704 | C | T |
c.71428G>A
|
p.Gly23810Arg
|
- | 3.0 |
|
B | |
| 24605 | chr2 | 178574799 | G | T |
c.71333C>A
|
p.Ala23778Glu
|
- | 3.0 |
|
B | |
| 26062 | chr2 | 178575006 | C | T |
c.71126G>A
|
p.Arg23709Lys
|
- | 3.0 |
|
B | |
| 32452 | chr2 | 178575131 | C | T |
c.71001G>A
|
p.Trp23667Ter
|
- | 3.0 |
|
B | |
| 20520 | chr2 | 178575256 | C | T |
c.70876G>A
|
p.Glu23626Lys
|
- | 3.0 |
|
B | |
| 23439 | chr2 | 178575696 | C | A |
c.70436G>T
|
p.Arg23479Leu
|
- | 3.0 |
|
B | |
| 27921 | chr2 | 178575724 | A | G |
c.70408T>C
|
p.Tyr23470His
|
- | 3.0 |
|
B | |
| 29687 | chr2 | 178575970 | G | T |
c.70162C>A
|
p.Arg23388=
|
- | 3.0 |
|
B | |
| 30077 | chr2 | 178576023 | C | T |
c.70109G>A
|
p.Gly23370Asp
|
3.0 |
|
B | ||
| 23302 | chr2 | 178576033 | G | T |
c.70099C>A
|
p.Pro23367Thr
|
- | 3.0 |
|
B |