Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35088 | chr11 | 108310161 | CCTT | C |
c.5769_5771del
|
p.Ser1924del
|
3.0 |
|
B | ||
| 2265 | chr11 | 108310170 | G | T |
c.5773G>T
|
p.Gly1925Ter
|
- | 4.0 |
|
B | |
| 9170 | chr11 | 108310248 | C | A |
c.5851C>A
|
p.His1951Asn
|
- | 3.0 |
|
B | |
| 29020 | chr11 | 108310310 | GA | G |
c.5917del
|
p.Arg1973GlufsTer17
|
- | 4.5 |
|
B | |
| 8591 | chr11 | 108312478 | G | A |
c.5986G>A
|
p.Glu1996Lys
|
- | 3.0 |
|
B | |
| 11536 | chr11 | 108312491 | G | A |
c.5999G>A
|
p.Ser2000Asn
|
3.0 |
|
B | ||
| 6784 | chr11 | 108315856 | G | A |
c.6040G>A
|
p.Glu2014Lys
|
3.0 |
|
B | ||
| 18838 | chr11 | 108316018 | A | G |
c.6103A>G
|
p.Thr2035Ala
|
3.0 |
|
B | ||
| 35021 | chr11 | 108316125 | C | T |
c.6198+12C>T
|
-
|
- | 2.0 |
|
B | |
| 11490 | chr11 | 108317372 | G | C |
c.6199-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 23588 | chr11 | 108317386 | T | G |
c.6212T>G
|
p.Leu2071Trp
|
- | 3.0 |
|
B | |
| 21526 | chr11 | 108317409 | G | A |
c.6235G>A
|
p.Val2079Ile
|
1.5 |
|
B | ||
| 29505 | chr11 | 108317433 | G | A |
c.6259G>A
|
p.Glu2087Lys
|
3.0 |
|
B | ||
| 7219 | chr11 | 108317454 | G | T |
c.6280G>T
|
p.Glu2094Ter
|
4.0 |
|
B | ||
| 5796 | chr11 | 108317501 | G | T |
c.6327G>T
|
p.Trp2109Cys
|
3.0 |
|
B | ||
| 11561 | chr11 | 108319936 | C | T |
c.6348-18C>T
|
-
|
- | 2.5 |
|
B | |
| 2629 | chr11 | 108319979 | C | T |
c.6373C>T
|
p.His2125Tyr
|
3.0 |
|
B | ||
| 29216 | chr11 | 108321351 | C | T |
c.6503C>T
|
p.Ser2168Leu
|
2.5 |
|
B | ||
| 28241 | chr11 | 108326120 | G | C |
c.6870G>C
|
p.Glu2290Asp
|
- | 3.0 |
|
B | |
| 26944 | chr11 | 108326163 | CAG | C |
c.6916_6917del
|
p.Leu2307CysfsTer65
|
4.5 |
|
B |