Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25950 | chr11 | 64359413 | G | A |
-
c.91G>A
|
-
p.Glu31Lys
|
- | 3.0 |
|
B | |
| 18883 | chr11 | 64359416 | A | G |
-
c.94A>G
|
-
p.Asn32Asp
|
- | 3.0 |
|
B | |
| 10170 | chr11 | 64360234 | CTGCGCA | C |
-
c.200_205del
|
-
p.Leu67_Lys69delinsGln
|
- | 3.0 |
|
B | |
| 35419 | chr11 | 64360247 | C | T |
-
c.212C>T
|
-
p.Ala71Val
|
3.0 |
|
B | ||
| 9344 | chr11 | 64360309 | G | T |
-
c.274G>T
|
-
p.Val92Leu
|
- | 3.0 |
|
B | |
| 30905 | chr11 | 64360353 | GA | G |
-
c.319del
|
-
p.Thr107ArgfsTer12
|
- | 3.0 |
|
B | |
| 25064 | chr11 | 64361127 | C | T |
-
c.463-7C>T
|
-
-
|
3.0 |
|
B | ||
| 6021 | chr11 | 64361224 | G | A |
-
c.553G>A
|
-
p.Glu185Lys
|
- | 3.0 |
|
B | |
| 7912 | chr11 | 64361224 | GAGTTCC | G |
-
c.554_559del
|
-
p.Glu185_Leu187delinsVal
|
- | 3.0 |
|
B | |
| 35538 | chr11 | 64361656 | G | T |
-
c.666G>T
|
-
p.Trp222Cys
|
- | 3.0 |
|
B | |
| 19209 | chr11 | 64361697 | C | T |
-
c.707C>T
|
-
p.Ser236Leu
|
3.0 |
|
B | ||
| 16555 | chr11 | 64361711 | G | A |
-
c.721G>A
|
-
p.Glu241Lys
|
- | 3.0 |
|
B | |
| 6358 | chr11 | 64361891 | CG | C |
-
c.798del
|
-
p.Val268TrpfsTer107
|
- | 3.0 |
|
B | |
| 13456 | chr11 | 64361996 | C | G |
-
c.900C>G
|
-
p.Phe300Leu
|
- | 3.0 |
|
B | |
| 17911 | chr11 | 64368144 | G | A |
c.1084G>A
|
p.Val362Met
|
- | 3.0 |
|
B | |
| 7846 | chr11 | 64368237 | G | T |
c.1177G>T
|
p.Val393Leu
|
- | 3.0 |
|
B | |
| 32625 | chr11 | 64368791 | C | A |
c.1422C>A
|
p.His474Gln
|
3.0 |
|
B | ||
| 35095 | chr11 | 64369477 | G | T |
c.1460G>T
|
p.Arg487Leu
|
- | 3.0 |
|
B | |
| 4252 | chr11 | 64369548 | C | T |
c.1531C>T
|
p.Arg511Cys
|
3.0 |
|
B | ||
| 11831 | chr11 | 64370205 | C | T |
c.1798-20C>T
|
-
|
- | 3.0 |
|
B |