Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9008 | chr2 | 29717636 | C | T |
c.729G>A
|
p.Trp243Ter
|
- | 2.5 |
|
B | |
| 9942 | chr2 | 29717647 | A | C |
c.718T>G
|
p.Tyr240Asp
|
- | 3.0 |
|
B | |
| 8141 | chr2 | 29717698 | C | A |
c.668-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 12704 | chr2 | 29920014 | G | A |
c.646C>T
|
p.Leu216Phe
|
- | 3.0 |
|
B | |
| 31349 | chr2 | 29920035 | G | C |
c.625C>G
|
p.Arg209Gly
|
- | 3.0 |
|
B | |
| 21168 | chr2 | 29920194 | C | T |
c.466G>A
|
p.Gly156Arg
|
3.0 |
|
B | ||
| 20275 | chr2 | 29920369 | CG | C |
c.290del
|
p.Pro97ArgfsTer31
|
- | 3.0 |
|
B | |
| 31685 | chr2 | 29920457 | G | A |
c.203C>T
|
p.Ala68Val
|
- | 3.0 |
|
B | |
| 11508 | chr2 | 29920466 | C | T |
c.194G>A
|
p.Arg65His
|
- | 3.0 |
|
B | |
| 15926 | chr2 | 29920520 | G | C |
c.140C>G
|
p.Ser47Trp
|
3.0 |
|
B | ||
| 18967 | chr2 | 29920613 | G | A |
c.47C>T
|
p.Thr16Met
|
2.5 |
|
B | ||
| 3219 | chr2 | 29920625 | A | C |
c.35T>G
|
p.Leu12Arg
|
- | 3.0 |
|
B | |
| 12424 | chr2 | 29920655 | C | G |
c.5G>C
|
p.Gly2Ala
|
3.0 |
|
B | ||
| 17685 | chr2 | 32357161 | G | T |
c.-1G>T
|
-
|
- | 3.0 |
|
B | |
| 21780 | chr2 | 32357207 | C | T |
c.46C>T
|
p.Pro16Ser
|
- | 3.0 |
|
B | |
| 21910 | chr2 | 32357246 | A | G |
c.85A>G
|
p.Met29Val
|
- | 3.0 |
|
B | |
| 24941 | chr2 | 32357370 | T | A |
c.209T>A
|
p.Leu70Gln
|
- | 3.0 |
|
B | |
| 20781 | chr2 | 32357381 | T | A |
c.220T>A
|
p.Ser74Thr
|
- | 3.0 |
|
B | |
| 27920 | chr2 | 32357446 | C | G |
c.285C>G
|
p.Asp95Glu
|
- | 3.0 |
|
B | |
| 27936 | chr2 | 32380159 | C | T |
c.514C>T
|
p.Gln172Ter
|
- | 3.0 |
|
B |