Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25179 | chr2 | 215425199 | C | T |
c.931G>A
|
p.Asp311Asn
|
- | 3.0 |
|
B | |
| 21843 | chr2 | 215428313 | C | A |
c.711G>T
|
p.Arg237Ser
|
- | 3.0 |
|
B | |
| 21447 | chr2 | 215430811 | C | T |
c.589G>A
|
p.Val197Ile
|
- | 3.0 |
|
B | |
| 12597 | chr2 | 215431857 | C | T |
c.523G>A
|
p.Gly175Arg
|
- | 3.0 |
|
B | |
| 7395 | chr2 | 215433366 | A | G |
c.373T>C
|
p.Cys125Arg
|
- | 3.0 |
|
B | |
| 32818 | chr2 | 215434743 | G | T |
c.230C>A
|
p.Thr77Asn
|
- | 3.0 |
|
B | |
| 18224 | chr2 | 215434837 | G | A |
c.149-13C>T
|
-
|
- | 3.0 |
|
B | |
| 34274 | chr2 | 215435790 | G | C |
c.13C>G
|
p.Pro5Ala
|
- | 3.0 |
|
B | |
| 25692 | chr2 | 216415444 | G | T |
c.740G>T
|
p.Arg247Leu
|
- | 3.0 |
|
B | |
| 24970 | chr2 | 216416259 | C | G |
c.814C>G
|
p.Pro272Ala
|
- | 3.0 |
|
B | |
| 12977 | chr2 | 216420354 | T | A |
c.918T>A
|
p.Tyr306Ter
|
- | 3.0 |
|
B | |
| 7279 | chr2 | 216428644 | C | T |
c.1196C>T
|
p.Thr399Met
|
2.5 |
|
B | ||
| 9610 | chr2 | 216428659 | C | T |
c.1211C>T
|
p.Ala404Val
|
3.0 |
|
B | ||
| 9967 | chr2 | 216432800 | G | C |
c.1417G>C
|
p.Ala473Pro
|
- | 3.0 |
|
B | |
| 20296 | chr2 | 216435468 | TA | T |
c.1621del
|
p.Thr541ProfsTer29
|
- | 3.0 |
|
B | |
| 28413 | chr2 | 216438431 | C | G |
c.1656C>G
|
p.His552Gln
|
- | 3.0 |
|
B | |
| 23261 | chr2 | 216447069 | G | T |
c.1762G>T
|
p.Ala588Ser
|
3.0 |
|
B | ||
| 13183 | chr2 | 216468027 | C | T |
c.2225C>T
|
p.Thr742Met
|
3.0 |
|
B | ||
| 11308 | chr2 | 216468035 | C | T |
c.2233C>T
|
p.Leu745Phe
|
- | 3.0 |
|
B | |
| 13678 | chr2 | 218672876 | G | A |
c.47G>A
-
|
p.Gly16Glu
-
|
- | 3.0 |
|
B |