Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10599 | chr2 | 140700466 | T | C |
c.6583A>G
|
p.Thr2195Ala
|
- | 3.0 |
|
B | |
| 9657 | chr2 | 140700506 | AG | A |
c.6542del
|
p.Thr2181IlefsTer3
|
4.0 |
|
B | ||
| 12256 | chr2 | 140700514 | C | T |
c.6535G>A
|
p.Gly2179Arg
|
3.0 |
|
B | ||
| 33593 | chr2 | 140700538 | C | T |
c.6511G>A
|
p.Ala2171Thr
|
- | 3.0 |
|
B | |
| 21665 | chr2 | 140700565 | C | T |
c.6484G>A
|
p.Gly2162Arg
|
3.0 |
|
B | ||
| 10579 | chr2 | 140700637 | G | T |
c.6428-16C>A
|
-
|
- | 3.0 |
|
B | |
| 31244 | chr2 | 140701781 | T | C |
c.6367A>G
|
p.Arg2123Gly
|
- | 3.0 |
|
B | |
| 14517 | chr2 | 140701831 | C | A |
c.6317G>T
|
p.Gly2106Val
|
- | 3.0 |
|
B | |
| 24087 | chr2 | 140701834 | T | A |
c.6314A>T
|
p.Asn2105Ile
|
- | 3.0 |
|
B | |
| 34561 | chr2 | 140701849 | C | T |
c.6303-4G>A
|
-
|
- | 3.0 |
|
B | |
| 7624 | chr2 | 140701853 | A | G |
c.6303-8T>C
|
-
|
3.0 |
|
B | ||
| 132 | chr2 | 140702150 | C | T |
c.6293G>A
|
p.Trp2098Ter
|
- | 4.33 |
|
A | |
| 27309 | chr2 | 140702180 | G | A |
c.6263C>T
|
p.Ser2088Leu
|
- | 3.0 |
|
B | |
| 7415 | chr2 | 140702204 | G | T |
c.6239C>A
|
p.Ser2080Ter
|
- | 4.0 |
|
B | |
| 7495 | chr2 | 140702215 | C | A |
c.6228G>T
|
p.Glu2076Asp
|
- | 3.0 |
|
B | |
| 16893 | chr2 | 140702292 | C | T |
c.6151G>A
|
p.Glu2051Lys
|
3.0 |
|
B | ||
| 2303 | chr2 | 140702438 | T | C |
c.6139A>G
|
p.Ile2047Val
|
- | 3.0 |
|
B | |
| 8376 | chr2 | 140702446 | C | T |
c.6131G>A
|
p.Gly2044Asp
|
- | 3.0 |
|
B | |
| 32837 | chr2 | 140702465 | C | T |
c.6112G>A
|
p.Gly2038Arg
|
- | 3.0 |
|
B | |
| 9195 | chr2 | 140702477 | G | A |
c.6100C>T
|
p.Leu2034Phe
|
- | 3.0 |
|
B |