Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34341 | chr11 | 2583502 | C | T |
c.989C>T
|
p.Ser330Phe
|
- | 3.0 |
|
B | |
| 35217 | chr11 | 2587552 | C | A |
c.1129-18C>A
|
-
|
- | 3.0 |
|
B | |
| 35572 | chr11 | 2587579 | A | T |
c.1138A>T
|
p.Arg380Trp
|
3.0 |
|
B | ||
| 13921 | chr11 | 2661984 | G | A |
c.1417G>A
|
p.Glu473Lys
|
- | 3.0 |
|
B | |
| 30437 | chr11 | 2662045 | G | A |
c.1478G>A
|
p.Gly493Glu
|
- | 3.0 |
|
B | |
| 4178 | chr11 | 2768881 | C | T |
c.1552C>T
|
p.Arg518Ter
|
3.0 |
|
B | ||
| 31987 | chr11 | 2775985 | G | C |
c.1616G>C
|
p.Arg539Pro
|
3.0 |
|
B | ||
| 14412 | chr11 | 2776063 | G | A |
c.1685+9G>A
|
-
|
2.0 |
|
B | ||
| 27573 | chr11 | 2777024 | C | T |
c.1724C>T
|
p.Ser575Phe
|
- | 3.0 |
|
B | |
| 35053 | chr11 | 2777802 | G | A |
c.1733-174G>A
|
-
|
3.0 |
|
B | ||
| 24251 | chr11 | 2883821 | C | T |
c.*100G>A
|
-
|
3.0 |
|
B | ||
| 17072 | chr11 | 2883893 | C | T |
c.*28G>A
|
-
|
- | 3.0 |
|
B | |
| 12501 | chr11 | 2884116 | T | G |
c.806A>C
|
p.Lys269Thr
|
- | 3.0 |
|
B | |
| 28339 | chr11 | 2884966 | ACCGCGACCGGAG | A |
c.479_490del
|
p.Ala160_Ala163del
|
2.0 |
|
B | ||
| 30849 | chr11 | 2885046 | CG | C |
c.410del
|
p.Pro137ArgfsTer124
|
- | 4.0 |
|
B | |
| 10050 | chr11 | 2885064 | C | T |
c.393G>A
|
p.Pro131=
|
2.5 |
|
B | ||
| 23067 | chr11 | 2885220 | G | T |
c.237C>A
|
p.Phe79Leu
|
- | 3.0 |
|
B | |
| 13852 | chr11 | 2885317 | T | C |
c.140A>G
|
p.Gln47Arg
|
3.0 |
|
B | ||
| 21005 | chr11 | 2885327 | C | T |
c.130G>A
|
p.Ala44Thr
|
- | 3.0 |
|
B | |
| 20495 | chr11 | 3017974 | T | C |
c.1630-20A>G
|
-
|
- | 3.0 |
|
B |