Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28162 | chr1 | 7938300 | G | A |
c.239C>T
|
p.Ser80Phe
|
3.0 |
|
B | ||
| 15158 | chr1 | 7938303 | G | T |
c.236C>A
|
p.Ser79Tyr
|
- | 3.0 |
|
B | |
| 26675 | chr1 | 7939989 | TC | T |
c.5del
|
p.Gly2GlufsTer7
|
- | 3.0 |
|
B | |
| 23621 | chr1 | 8004567 | G | C |
c.126-9C>G
|
-
|
- | 3.0 |
|
B | |
| 11795 | chr1 | 8013426 | TG | T |
c.1172del
|
p.Ser391Ter
|
- | 4.0 |
|
B | |
| 28514 | chr1 | 8013525 | ATAC | A |
c.1071_1073del
|
p.Lys357_Tyr358delinsAsn
|
- | 3.0 |
|
B | |
| 11257 | chr1 | 8013600 | CGG | C |
c.997_998del
|
p.Pro333GlufsTer22
|
- | 4.0 |
|
B | |
| 9466 | chr1 | 8013757 | G | T |
c.842C>A
|
p.Pro281His
|
- | 3.0 |
|
B | |
| 31836 | chr1 | 8014188 | AG | A |
c.410del
|
p.Pro137LeufsTer38
|
- | 3.5 |
|
B | |
| 18041 | chr1 | 8015364 | G | A |
c.146C>T
|
p.Pro49Leu
|
3.0 |
|
B | ||
| 2755 | chr1 | 8360664 | G | C |
c.2843C>G
|
p.Pro948Arg
|
- | 3.0 |
|
B | |
| 35264 | chr1 | 9710509 | G | T |
c.54G>T
|
p.Gln18His
|
- | 3.0 |
|
B | |
| 10577 | chr1 | 9715524 | G | A |
c.142-17G>A
|
-
|
2.5 |
|
B | ||
| 14168 | chr1 | 9715849 | G | A |
c.371G>A
|
p.Gly124Asp
|
- | 3.0 |
|
B | |
| 10176 | chr1 | 9715879 | C | T |
c.401C>T
|
p.Pro134Leu
|
3.0 |
|
B | ||
| 29785 | chr1 | 9715999 | C | T |
c.521C>T
|
p.Ser174Leu
|
3.0 |
|
B | ||
| 5444 | chr1 | 9716446 | T | A |
c.607T>A
|
p.Phe203Ile
|
- | 3.0 |
|
B | |
| 33764 | chr1 | 9716498 | C | G |
c.659C>G
|
p.Ala220Gly
|
- | 3.0 |
|
B | |
| 1269 | chr1 | 9716525 | G | A |
c.686G>A
|
p.Arg229Gln
|
3.0 |
|
B | ||
| 5417 | chr1 | 9716584 | T | G |
c.745T>G
|
p.Tyr249Asp
|
- | 3.0 |
|
B |