Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11754 | chr11 | 69774135 | C | T |
c.341-8G>A
|
-
|
3.0 |
|
B | ||
| 11074 | chr11 | 69774766 | C | T |
c.319G>A
|
p.Ala107Thr
|
- | 3.0 |
|
B | |
| 2654 | chr11 | 69775008 | C | T |
c.77G>A
|
p.Arg26Gln
|
3.0 |
|
B | ||
| 34398 | chr11 | 69810309 | T | A |
c.716A>T
|
p.His239Leu
|
- | 3.0 |
|
B | |
| 29946 | chr11 | 69810342 | G | A |
c.683C>T
|
p.Ser228Leu
|
3.0 |
|
B | ||
| 31218 | chr11 | 69810373 | C | T |
c.652G>A
|
p.Asp218Asn
|
- | 3.0 |
|
B | |
| 16003 | chr11 | 69810377 | G | T |
c.648C>A
|
p.Ser216Arg
|
- | 3.0 |
|
B | |
| 12062 | chr11 | 69810394 | G | A |
c.631C>T
|
p.Arg211Trp
|
3.0 |
|
B | ||
| 18266 | chr11 | 69810483 | C | T |
c.542G>A
|
p.Arg181His
|
3.0 |
|
B | ||
| 23713 | chr11 | 69810658 | C | T |
c.367G>A
|
p.Glu123Lys
|
3.0 |
|
B | ||
| 33288 | chr11 | 69810688 | C | T |
c.337G>A
|
p.Ala113Thr
|
3.0 |
|
B | ||
| 28252 | chr11 | 69816334 | G | A |
c.310C>T
|
p.Arg104Ter
|
3.0 |
|
B | ||
| 1163 | chr11 | 69816364 | C | T |
c.280G>A
|
p.Gly94Arg
|
3.0 |
|
B | ||
| 25449 | chr11 | 69818785 | C | T |
c.149G>A
|
p.Cys50Tyr
|
- | 3.0 |
|
B | |
| 31366 | chr11 | 69818803 | C | A |
c.131G>T
|
p.Arg44Leu
|
- | 3.0 |
|
B | |
| 12863 | chr11 | 70407347 | C | T |
c.50C>T
|
p.Ala17Val
|
3.0 |
|
B | ||
| 9136 | chr11 | 70407530 | G | C |
c.100G>C
|
p.Glu34Gln
|
- | 3.0 |
|
B | |
| 25674 | chr11 | 70409940 | G | C |
c.271G>C
|
p.Glu91Gln
|
- | 3.0 |
|
B | |
| 25379 | chr11 | 70414600 | C | T |
c.350C>T
|
p.Ser117Leu
|
3.0 |
|
B | ||
| 13545 | chr11 | 70415696 | G | C |
c.436G>C
|
p.Glu146Gln
|
3.0 |
|
B |