Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13469 | chr2 | 39278439 | G | C |
c.1762C>G
|
p.Leu588Val
|
- | 3.0 |
|
B | |
| 14240 | chr2 | 39278456 | C | A |
c.1745G>T
|
p.Gly582Val
|
- | 3.0 |
|
B | |
| 13084 | chr2 | 39286899 | C | T |
c.1540G>A
|
p.Glu514Lys
|
- | 3.0 |
|
B | |
| 2184 | chr2 | 39286965 | C | T |
c.1475-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 1934 | chr2 | 39288246 | G | C |
c.1349C>G
|
p.Ser450Cys
|
- | 3.0 |
|
B | |
| 4161 | chr2 | 39292765 | G | A |
c.1271+8C>T
|
-
|
3.0 |
|
B | ||
| 20276 | chr2 | 39293215 | A | T |
c.1217+15T>A
|
-
|
- | 3.0 |
|
B | |
| 30429 | chr2 | 39293230 | C | T |
c.1217G>A
|
p.Arg406Gln
|
3.0 |
|
B | ||
| 29788 | chr2 | 39293246 | C | A |
c.1201G>T
|
p.Glu401Ter
|
- | 3.0 |
|
B | |
| 12796 | chr2 | 39299726 | A | C |
c.1178+17T>G
|
-
|
- | 3.0 |
|
B | |
| 25040 | chr2 | 39309502 | C | T |
c.1015G>A
|
p.Asp339Asn
|
- | 3.0 |
|
B | |
| 31725 | chr2 | 39325541 | C | A |
c.895G>T
|
p.Asp299Tyr
|
- | 3.0 |
|
B | |
| 784 | chr2 | 39325755 | C | CT |
c.781dup
|
p.Arg261LysfsTer5
|
- | 3.0 |
|
B | |
| 2398 | chr2 | 39325764 | G | A |
c.773C>T
|
p.Pro258Leu
|
3.0 |
|
B | ||
| 2399 | chr2 | 39325765 | G | A |
c.772C>T
|
p.Pro258Ser
|
3.0 |
|
B | ||
| 10154 | chr2 | 39325815 | A | C |
c.726-4T>G
|
-
|
- | 3.0 |
|
B | |
| 19377 | chr2 | 39331994 | TA | T |
c.458-6del
|
-
|
3.0 |
|
B | ||
| 34095 | chr2 | 39336936 | A | T |
c.398T>A
|
p.Met133Lys
|
- | 3.0 |
|
B | |
| 5325 | chr2 | 39337530 | A | C |
c.362T>G
|
p.Leu121Arg
|
- | 3.0 |
|
B | |
| 3073 | chr2 | 39337583 | T | C |
c.311-2A>G
|
p.?
|
- | 2.5 |
|
B |