Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18964 | chr11 | 108279573 | GCATACTTGA | G |
c.3368_3376del
|
p.Ala1123_Lys1126delinsGlu
|
- | 3.0 |
|
B | |
| 23229 | chr11 | 108279603 | GA | G |
c.3400del
|
p.Met1134CysfsTer22
|
- | 4.0 |
|
B | |
| 5001 | chr11 | 108279609 | G | A |
c.3402+1G>A
|
p.?
|
4.0 |
|
B | ||
| 16788 | chr11 | 108281041 | G | A |
c.3449G>A
|
p.Arg1150Lys
|
3.0 |
|
B | ||
| 11363 | chr11 | 108282710 | GT | G |
c.3581del
|
p.Leu1194Ter
|
- | 4.5 |
|
B | |
| 20929 | chr11 | 108282762 | TG | T |
c.3631del
|
p.Ala1211HisfsTer4
|
4.5 |
|
B | ||
| 17704 | chr11 | 108282785 | G | A |
c.3652G>A
|
p.Val1218Ile
|
- | 3.0 |
|
B | |
| 28032 | chr11 | 108282831 | C | A |
c.3698C>A
|
p.Ser1233Tyr
|
- | 3.0 |
|
B | |
| 31845 | chr11 | 108282879 | G | A |
c.3746G>A
|
p.Arg1249Lys
|
- | 3.0 |
|
B | |
| 7209 | chr11 | 108284233 | T | A |
c.3753T>A
|
p.Cys1251Ter
|
- | 4.5 |
|
B | |
| 27020 | chr11 | 108284316 | G | A |
c.3836G>A
|
p.Trp1279Ter
|
4.5 |
|
B | ||
| 9028 | chr11 | 108287597 | C | T |
c.3994-3C>T
|
-
|
- | 3.0 |
|
B | |
| 33988 | chr11 | 108287714 | G | C |
c.4108G>C
|
p.Gly1370Arg
|
3.5 |
|
B | ||
| 1035 | chr11 | 108289613 | G | T |
c.4248G>T
|
p.Gln1416His
|
3.0 |
|
B | ||
| 26887 | chr11 | 108289626 | G | T |
c.4261G>T
|
p.Ala1421Ser
|
- | 3.0 |
|
B | |
| 11164 | chr11 | 108289688 | A | G |
c.4323A>G
|
p.Ile1441Met
|
3.0 |
|
B | ||
| 33130 | chr11 | 108289741 | G | T |
c.4376G>T
|
p.Gly1459Val
|
- | 3.0 |
|
B | |
| 434 | chr11 | 108289761 | C | T |
c.4396C>T
|
p.Arg1466Ter
|
4.67 |
|
A | ||
| 1305 | chr11 | 108289790 | T | A |
c.4425T>A
|
p.Tyr1475Ter
|
- | 4.0 |
|
B | |
| 10696 | chr11 | 108292746 | G | A |
c.4564G>A
|
p.Gly1522Ser
|
3.0 |
|
B |