Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1615 | chr1 | 77978974 | AG | A |
c.30del
|
p.Ser11LeufsTer43
|
4.0 |
|
B | ||
| 34389 | chr1 | 78492814 | C | T |
c.71C>T
|
p.Thr24Met
|
3.0 |
|
B | ||
| 25279 | chr1 | 78492858 | G | A |
c.115G>A
|
p.Val39Met
|
- | 3.0 |
|
B | |
| 31946 | chr1 | 78493066 | G | T |
c.323G>T
|
p.Cys108Phe
|
- | 3.0 |
|
B | |
| 29403 | chr1 | 78493317 | G | C |
c.574G>C
|
p.Asp192His
|
- | 3.0 |
|
B | |
| 9541 | chr1 | 78493460 | A | T |
c.717A>T
|
p.Gln239His
|
- | 3.0 |
|
B | |
| 33381 | chr1 | 78493468 | C | T |
c.725C>T
|
p.Ser242Phe
|
- | 3.0 |
|
B | |
| 21358 | chr1 | 78493492 | A | T |
c.749A>T
|
p.Gln250Leu
|
- | 3.0 |
|
B | |
| 16565 | chr1 | 78536397 | C | T |
c.799-9C>T
|
-
|
3.0 |
|
B | ||
| 13275 | chr1 | 78536402 | C | G |
c.799-4C>G
|
-
|
- | 3.0 |
|
B | |
| 24713 | chr1 | 78536425 | G | A |
c.818G>A
|
p.Gly273Glu
|
3.0 |
|
B | ||
| 13938 | chr1 | 78536460 | AC | A |
c.854del
|
p.Thr285LysfsTer15
|
- | 3.0 |
|
B | |
| 32825 | chr1 | 78536529 | C | T |
c.922C>T
|
p.Arg308Ter
|
3.0 |
|
B | ||
| 13500 | chr1 | 78536530 | G | A |
c.923G>A
|
p.Arg308Gln
|
3.0 |
|
B | ||
| 18046 | chr1 | 78536629 | C | T |
c.1022C>T
|
p.Ser341Phe
|
3.0 |
|
B | ||
| 17113 | chr1 | 78893087 | G | T |
c.1841+11C>A
|
-
|
- | 3.0 |
|
B | |
| 4038 | chr1 | 84185100 | G | A |
c.478G>A
|
p.Asp160Asn
|
3.0 |
|
B | ||
| 30060 | chr1 | 85267860 | C | T |
c.469G>A
|
p.Glu157Lys
|
- | 3.0 |
|
B | |
| 25432 | chr1 | 85270647 | A | C |
c.317T>G
|
p.Leu106Arg
|
- | 3.0 |
|
B | |
| 22820 | chr1 | 85270813 | C | T |
c.151G>A
|
p.Asp51Asn
|
- | 3.0 |
|
B |