Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3865 | chr1 | 11247964 | G | A |
c.971C>T
|
p.Pro324Leu
|
- | 3.0 |
|
B | |
| 15696 | chr1 | 11248094 | G | A |
c.841C>T
|
p.Arg281Cys
|
3.0 |
|
B | ||
| 15075 | chr1 | 11253964 | C | T |
c.715G>A
|
p.Glu239Lys
|
- | 3.0 |
|
B | |
| 27283 | chr1 | 11256105 | C | T |
c.592G>A
|
p.Val198Met
|
2.0 |
|
B | ||
| 18888 | chr1 | 11258613 | C | T |
c.163-20G>A
|
-
|
- | 2.5 |
|
B | |
| 30554 | chr1 | 11259343 | G | C |
c.67C>G
|
p.Gln23Glu
|
- | 3.0 |
|
B | |
| 9883 | chr1 | 11674776 | C | A |
-
c.635G>T
|
-
p.Ter212LeuextTer20
|
- | 3.5 |
|
B | |
| 9849 | chr1 | 11675123 | G | A |
-
c.553C>T
|
-
p.Arg185Trp
|
3.0 |
|
B | ||
| 26394 | chr1 | 11676835 | AG | A |
-
c.332+12del
|
-
-
|
- | 3.5 |
|
B | |
| 22704 | chr1 | 11680341 | G | T |
c.159+12C>A
|
-
|
- | 3.0 |
|
B | |
| 11120 | chr1 | 11788270 | C | T |
c.3970C>T
c.*2410G>A
|
p.Arg1324Ter
-
|
3.0 |
|
B | ||
| 13017 | chr1 | 11790866 | C | T |
-
c.1785G>A
|
-
p.Trp595Ter
|
3.0 |
|
B | ||
| 32127 | chr1 | 11793927 | C | T |
-
c.1510G>A
|
-
p.Gly504Arg
|
3.0 |
|
B | ||
| 20449 | chr1 | 11794006 | CT | TA |
-
c.1430_1431delinsTA
|
-
p.Gln477Leu
|
- | 3.0 |
|
B | |
| 20478 | chr1 | 11794419 | T | G |
-
c.1286A>C
|
-
p.Glu429Ala
|
1.0 |
|
B | ||
| 16994 | chr1 | 11794748 | C | A |
c.1147G>T
|
p.Glu383Ter
|
- | 3.0 |
|
B | |
| 33042 | chr1 | 11794808 | G | A |
c.1087C>T
|
p.Arg363Cys
|
3.0 |
|
B | ||
| 9524 | chr1 | 11794823 | G | A |
c.1072C>T
|
p.Arg358Ter
|
3.0 |
|
B | ||
| 34411 | chr1 | 11794841 | T | C |
c.1054A>G
|
p.Ser352Gly
|
- | 3.0 |
|
B | |
| 22487 | chr1 | 11795155 | C | A |
c.974G>T
|
p.Arg325Leu
|
- | 3.0 |
|
B |