Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31646 | chr6 | 123497186 | G | A |
c.853+7C>T
|
-
|
- | 3.0 |
|
B | |
| 30792 | chr6 | 123497187 | G | T |
c.853+6C>A
|
-
|
3.0 |
|
B | ||
| 26460 | chr6 | 123503719 | C | A |
c.793G>T
|
p.Asp265Tyr
|
3.0 |
|
B | ||
| 13758 | chr6 | 123503857 | T | C |
c.655A>G
|
p.Lys219Glu
|
3.0 |
|
B | ||
| 18505 | chr6 | 123512333 | C | A |
c.580G>T
|
p.Glu194Ter
|
- | 3.0 |
|
B | |
| 34018 | chr6 | 123529280 | G | T |
c.484+1226C>A
|
-
|
3.0 |
|
B | ||
| 29418 | chr6 | 123530554 | C | G |
c.436G>C
|
p.Asp146His
|
- | 3.0 |
|
B | |
| 31403 | chr6 | 123530580 | A | G |
c.425-15T>C
|
-
|
3.0 |
|
B | ||
| 27909 | chr6 | 123548553 | C | T |
c.292G>A
|
p.Glu98Lys
|
3.0 |
|
B | ||
| 28418 | chr6 | 123571120 | G | T |
c.35C>A
|
p.Thr12Lys
|
- | 3.0 |
|
B | |
| 13781 | chr6 | 127119290 | G | GT |
c.97+2dup
|
-
|
3.0 |
|
B | ||
| 23307 | chr6 | 127148699 | A | T |
c.149A>T
|
p.Asp50Val
|
- | 3.0 |
|
B | |
| 26607 | chr6 | 127148854 | G | A |
c.289+15G>A
|
-
|
3.0 |
|
B | ||
| 15542 | chr6 | 127155312 | A | G |
c.508A>G
|
p.Arg170Gly
|
- | 3.0 |
|
B | |
| 27903 | chr6 | 127155321 | G | A |
c.517G>A
|
p.Glu173Lys
|
- | 3.0 |
|
B | |
| 21032 | chr6 | 127195907 | C | A |
c.719C>A
|
p.Ser240Tyr
|
- | 3.0 |
|
B | |
| 20330 | chr6 | 127973095 | C | T |
c.4196G>A
|
p.Arg1399Gln
|
3.0 |
|
B | ||
| 12674 | chr6 | 127973143 | C | T |
c.4148G>A
|
p.Arg1383Gln
|
3.0 |
|
B | ||
| 21224 | chr6 | 127973160 | G | A |
c.4134-3C>T
|
-
|
3.0 |
|
B | ||
| 24810 | chr6 | 127973649 | A | C |
c.4133+15T>G
|
-
|
- | 3.0 |
|
B |