Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24541 | chr1 | 158657623 | G | A |
c.2659C>T
|
p.Arg887Ter
|
3.0 |
|
B | ||
| 26948 | chr1 | 158657629 | G | A |
c.2653C>T
|
p.Arg885Cys
|
3.0 |
|
B | ||
| 17195 | chr1 | 158657667 | G | A |
c.2615C>T
|
p.Ser872Phe
|
- | 3.0 |
|
B | |
| 27444 | chr1 | 158661314 | C | T |
c.2560G>A
|
p.Glu854Lys
|
3.0 |
|
B | ||
| 1758 | chr1 | 158661389 | T | C |
c.2485A>G
|
p.Lys829Glu
|
- | 3.0 |
|
B | |
| 15559 | chr1 | 158661389 | T | G |
c.2485A>C
|
p.Lys829Gln
|
- | 3.0 |
|
B | |
| 28227 | chr1 | 158661397 | A | G |
c.2477T>C
|
p.Ile826Thr
|
- | 3.0 |
|
B | |
| 5109 | chr1 | 158661409 | C | CCT |
c.2465-2_2465-1dup
|
p.Met1?
|
- | 3.0 |
|
B | |
| 34452 | chr1 | 158662713 | G | C |
c.2453C>G
|
p.Ser818Cys
|
- | 3.0 |
|
B | |
| 2131 | chr1 | 158662731 | G | A |
c.2435C>T
|
p.Thr812Ile
|
- | 3.0 |
|
B | |
| 25144 | chr1 | 158662737 | TGG | T |
c.2427_2428del
|
p.Gln810ArgfsTer3
|
- | 3.0 |
|
B | |
| 13207 | chr1 | 158662779 | T | C |
c.2387A>G
|
p.Gln796Arg
|
- | 3.0 |
|
B | |
| 1746 | chr1 | 158662812 | C | T |
c.2354G>A
|
p.Arg785Gln
|
3.0 |
|
B | ||
| 9604 | chr1 | 158662824 | G | T |
c.2342C>A
|
p.Pro781Gln
|
- | 3.0 |
|
B | |
| 11035 | chr1 | 158662929 | A | T |
c.2237T>A
|
p.Leu746His
|
- | 3.0 |
|
B | |
| 9710 | chr1 | 158662950 | G | C |
c.2221-5C>G
|
-
|
3.0 |
|
B | ||
| 13414 | chr1 | 158666300 | A | C |
c.2220+16T>G
|
-
|
- | 3.0 |
|
B | |
| 2224 | chr1 | 158666324 | C | A |
c.2212G>T
|
p.Ala738Ser
|
- | 3.0 |
|
B | |
| 2130 | chr1 | 158666438 | G | A |
c.2098C>T
|
p.Gln700Ter
|
- | 3.0 |
|
B | |
| 16225 | chr1 | 158667857 | C | G |
c.2038+1G>C
|
p.?
|
- | 3.0 |
|
B |