Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27834 | chr11 | 70417102 | G | C |
c.547G>C
|
p.Glu183Gln
|
- | 3.0 |
|
B | |
| 20095 | chr11 | 70419727 | CT | C |
c.569-13del
|
-
|
- | 3.0 |
|
B | |
| 9985 | chr11 | 70419738 | G | T |
c.569-8G>T
|
-
|
3.0 |
|
B | ||
| 17524 | chr11 | 70419775 | G | A |
c.598G>A
|
p.Gly200Ser
|
3.0 |
|
B | ||
| 23311 | chr11 | 70421550 | G | T |
c.871G>T
|
p.Glu291Ter
|
- | 3.0 |
|
B | |
| 26755 | chr11 | 70421554 | A | G |
c.875A>G
|
p.Lys292Arg
|
- | 3.0 |
|
B | |
| 29797 | chr11 | 70422988 | T | C |
c.950T>C
|
p.Met317Thr
|
- | 3.0 |
|
B | |
| 13636 | chr11 | 70433279 | G | A |
c.1444+1G>A
|
p.?
|
3.0 |
|
B | ||
| 15316 | chr11 | 70433719 | G | A |
c.1516+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 19653 | chr11 | 70435479 | G | A |
c.*317G>A
|
-
|
3.0 |
|
B | ||
| 23227 | chr11 | 70435533 | C | T |
c.*371C>T
|
-
|
- | 3.0 |
|
B | |
| 28527 | chr11 | 70435554 | A | T |
c.*392A>T
|
-
|
- | 3.0 |
|
B | |
| 8148 | chr11 | 70436404 | C | T |
c.*1242C>T
|
-
|
3.0 |
|
B | ||
| 24063 | chr11 | 71435608 | A | C |
c.1195T>G
|
p.Phe399Val
|
- | 3.0 |
|
B | |
| 26716 | chr11 | 71435664 | C | G |
c.1139G>C
|
p.Cys380Ser
|
- | 3.0 |
|
B | |
| 6449 | chr11 | 71435719 | G | A |
c.1084C>T
|
p.Arg362Cys
|
3.5 |
|
B | ||
| 9781 | chr11 | 71435815 | C | A |
c.988G>T
|
p.Val330Leu
|
- | 3.0 |
|
B | |
| 9745 | chr11 | 71435827 | C | G |
c.976G>C
|
p.Val326Leu
|
- | 3.0 |
|
B | |
| 31367 | chr11 | 71437800 | C | A |
c.963+12G>T
|
-
|
- | 3.0 |
|
B | |
| 9674 | chr11 | 71437949 | A | G |
c.832-6T>C
|
-
|
- | 3.0 |
|
B |