Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18929 | chr11 | 114063417 | G | T |
c.117G>T
|
p.Met39Ile
|
- | 3.0 |
|
B | |
| 20073 | chr11 | 114063544 | C | T |
c.244C>T
|
p.Gln82Ter
|
- | 4.0 |
|
B | |
| 1338 | chr11 | 114063586 | G | A |
c.286G>A
|
p.Ala96Thr
|
- | 3.0 |
|
B | |
| 11755 | chr11 | 114063633 | C | T |
c.333C>T
|
p.Ile111=
|
3.0 |
|
B | ||
| 7674 | chr11 | 114063635 | A | T |
c.335A>T
|
p.Glu112Val
|
- | 3.0 |
|
B | |
| 7675 | chr11 | 114063643 | G | A |
c.343G>A
|
p.Glu115Lys
|
- | 3.0 |
|
B | |
| 27159 | chr11 | 114063752 | G | A |
c.452G>A
|
p.Arg151Gln
|
3.0 |
|
B | ||
| 8548 | chr11 | 114064153 | C | T |
c.853C>T
|
p.Arg285Ter
|
- | 4.0 |
|
B | |
| 946 | chr11 | 114064154 | G | A |
c.854G>A
|
p.Arg285Gln
|
3.0 |
|
B | ||
| 16048 | chr11 | 114064246 | C | T |
c.946C>T
|
p.Pro316Ser
|
- | 3.0 |
|
B | |
| 34908 | chr11 | 114064346 | C | T |
c.1046C>T
|
p.Pro349Leu
|
3.0 |
|
B | ||
| 21956 | chr11 | 114064414 | G | T |
c.1114G>T
|
p.Gly372Trp
|
3.5 |
|
B | ||
| 29649 | chr11 | 114064485 | G | A |
c.1185G>A
|
p.Met395Ile
|
- | 3.0 |
|
B | |
| 26812 | chr11 | 114064508 | G | A |
c.1208G>A
|
p.Gly403Glu
|
3.0 |
|
B | ||
| 14159 | chr11 | 114064584 | G | T |
c.1268+16G>T
|
-
|
- | 3.0 |
|
B | |
| 5205 | chr11 | 114156405 | G | A |
c.1337G>A
|
p.Arg446Gln
|
3.0 |
|
B | ||
| 29563 | chr11 | 114186984 | G | A |
c.1399G>A
|
p.Gly467Ser
|
3.0 |
|
B | ||
| 8800 | chr11 | 114242161 | CCACAGGCACTGACAT | C |
c.1454-5_1463del
|
p.?
|
- | 3.5 |
|
B | |
| 23210 | chr11 | 114247204 | AC | A |
c.1635del
|
p.Tyr546ThrfsTer72
|
- | 4.0 |
|
B | |
| 19323 | chr11 | 114247304 | T | A |
c.1731T>A
|
p.Asn577Lys
|
- | 3.0 |
|
B |