Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15544 | chr8 | 138153193 | T | C |
c.1282A>G
|
p.Asn428Asp
|
- | 3.0 |
|
B | |
| 14205 | chr8 | 138153210 | T | C |
c.1265A>G
|
p.Asn422Ser
|
- | 3.0 |
|
B | |
| 20234 | chr8 | 138153220 | CAA | C |
c.1259-6_1259-5del
|
-
|
3.0 |
|
B | ||
| 20809 | chr8 | 138177357 | G | A |
c.1093C>T
|
p.Gln365Ter
|
- | 3.0 |
|
B | |
| 14029 | chr8 | 138177417 | G | A |
c.1033C>T
|
p.Arg345Ter
|
- | 3.0 |
|
B | |
| 17791 | chr8 | 138178552 | C | T |
c.1012G>A
|
p.Glu338Lys
|
3.0 |
|
B | ||
| 24499 | chr8 | 138178584 | A | G |
c.980T>C
|
p.Leu327Pro
|
- | 3.0 |
|
B | |
| 14712 | chr8 | 138178608 | G | A |
c.956C>T
|
p.Thr319Ile
|
- | 3.0 |
|
B | |
| 33141 | chr8 | 138178700 | C | CAA |
c.874-12_874-11dup
|
-
|
3.0 |
|
B | ||
| 18926 | chr8 | 138197524 | G | A |
c.815C>T
|
p.Thr272Met
|
2.5 |
|
B | ||
| 20677 | chr8 | 138197549 | G | A |
c.790C>T
|
p.Arg264Trp
|
3.0 |
|
B | ||
| 20810 | chr8 | 138197614 | C | T |
c.725G>A
|
p.Arg242Gln
|
3.0 |
|
B | ||
| 17630 | chr8 | 138243001 | T | C |
c.610A>G
|
p.Ile204Val
|
3.0 |
|
B | ||
| 35601 | chr8 | 138243005 | C | G |
c.606G>C
|
p.Gln202His
|
- | 3.0 |
|
B | |
| 26285 | chr8 | 138250834 | T | C |
c.542+7A>G
|
-
|
- | 3.0 |
|
B | |
| 17311 | chr8 | 138250843 | G | A |
c.540C>T
|
p.Ile180=
|
3.0 |
|
B | ||
| 33798 | chr8 | 138250848 | A | T |
c.535T>A
|
p.Leu179Met
|
- | 3.0 |
|
B | |
| 21625 | chr8 | 138256676 | C | T |
c.368+13G>A
|
-
|
- | 3.0 |
|
B | |
| 18650 | chr8 | 138256723 | T | G |
c.334A>C
|
p.Lys112Gln
|
- | 3.0 |
|
B | |
| 17312 | chr8 | 138256779 | C | T |
c.298-20G>A
|
-
|
- | 3.0 |
|
B |