Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25148 | chr2 | 178621753 | G | A |
c.45083-12C>T
|
-
|
2.0 |
|
B | ||
| 13127 | chr2 | 178621823 | A | C |
c.45082+17T>G
|
-
|
3.0 |
|
B | ||
| 31161 | chr2 | 178622776 | G | C |
c.44816-9C>G
|
-
|
- | 3.0 |
|
B | |
| 26593 | chr2 | 178622787 | G | A |
c.44816-20C>T
|
-
|
- | 3.0 |
|
B | |
| 27311 | chr2 | 178624537 | T | A |
c.44743A>T
|
p.Thr14915Ser
|
- | 3.0 |
|
B | |
| 25986 | chr2 | 178624687 | C | T |
c.44593G>A
|
p.Glu14865Lys
|
2.0 |
|
B | ||
| 25613 | chr2 | 178625383 | G | A |
c.44438C>T
|
p.Ser14813Leu
|
- | 3.0 |
|
B | |
| 20285 | chr2 | 178625409 | A | T |
c.44425-13T>A
|
-
|
2.0 |
|
B | ||
| 18555 | chr2 | 178629375 | C | T |
c.44350G>A
|
p.Asp14784Asn
|
3.0 |
|
B | ||
| 32845 | chr2 | 178629402 | C | T |
c.44323G>A
|
p.Val14775Met
|
2.5 |
|
B | ||
| 35070 | chr2 | 178629450 | G | C |
c.44282-7C>G
|
-
|
- | 3.0 |
|
B | |
| 15485 | chr2 | 178630240 | C | T |
c.44281+1G>A
|
p.?
|
3.0 |
|
B | ||
| 16310 | chr2 | 178630352 | C | T |
c.44170G>A
|
p.Glu14724Lys
|
3.0 |
|
B | ||
| 27578 | chr2 | 178630881 | G | A |
c.44077C>T
|
p.Arg14693Cys
|
2.0 |
|
B | ||
| 27244 | chr2 | 178630884 | C | T |
c.44074G>A
|
p.Ala14692Thr
|
- | 3.0 |
|
B | |
| 26594 | chr2 | 178630905 | C | T |
c.44053G>A
|
p.Glu14685Lys
|
3.0 |
|
B | ||
| 25361 | chr2 | 178631051 | C | T |
c.43997G>A
|
p.Gly14666Glu
|
- | 3.0 |
|
B | |
| 17225 | chr2 | 178631178 | C | T |
c.43870G>A
|
p.Glu14624Lys
|
- | 3.0 |
|
B | |
| 27857 | chr2 | 178632317 | C | T |
c.43577G>A
|
p.Arg14526Gln
|
2.5 |
|
B | ||
| 12593 | chr2 | 178632360 | C | T |
c.43534G>A
|
p.Glu14512Lys
|
- | 3.0 |
|
B |