Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25786 | chr1 | 24902580 | G | T |
c.790C>A
|
p.Pro264Thr
|
3.0 |
|
B | ||
| 8073 | chr1 | 24902672 | G | A |
c.704-6C>T
|
-
|
3.0 |
|
B | ||
| 3191 | chr1 | 24907262 | G | A |
c.700C>T
|
p.Gln234Ter
|
- | 3.0 |
|
B | |
| 11747 | chr1 | 24907355 | G | A |
c.607C>T
|
p.Arg203Trp
|
3.0 |
|
B | ||
| 1859 | chr1 | 24907392 | C | G |
c.570G>C
|
p.Gln190His
|
- | 3.0 |
|
B | |
| 29819 | chr1 | 24919264 | C | T |
c.520G>A
|
p.Val174Met
|
3.0 |
|
B | ||
| 22070 | chr1 | 24919345 | C | T |
c.440-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 12243 | chr1 | 24927563 | C | T |
c.439+11G>A
|
-
|
3.0 |
|
B | ||
| 29538 | chr1 | 24927577 | G | A |
c.436C>T
|
p.Arg146Ter
|
- | 3.0 |
|
B | |
| 31143 | chr1 | 24927708 | G | T |
c.305C>A
|
p.Pro102Gln
|
- | 3.0 |
|
B | |
| 9151 | chr1 | 24929688 | C | T |
c.181G>A
|
p.Asp61Asn
|
3.0 |
|
B | ||
| 1958 | chr1 | 24929691 | C | T |
c.178G>A
|
p.Ala60Thr
|
- | 3.0 |
|
B | |
| 33099 | chr1 | 24929700 | C | T |
c.169G>A
|
p.Asp57Asn
|
- | 3.0 |
|
B | |
| 35087 | chr1 | 24964528 | G | A |
c.44C>T
|
p.Pro15Leu
|
3.0 |
|
B | ||
| 34545 | chr1 | 24964571 | T | G |
c.1A>C
|
p.Met1?
|
- | 3.0 |
|
B | |
| 33136 | chr1 | 26696421 | CCCCGCCGCCGCCAGCAGCCTGGGCAA | C |
c.31_56del
|
p.Ser11AlafsTer91
|
4.0 |
|
B | ||
| 6530 | chr1 | 26696448 | CCCG | C |
c.60_62del
|
p.Pro21del
|
2.5 |
|
B | ||
| 33842 | chr1 | 26696584 | C | A |
c.181C>A
|
p.Pro61Thr
|
- | 3.0 |
|
B | |
| 29099 | chr1 | 26696649 | TGGC | T |
c.258_260del
|
p.Gly87del
|
3.0 |
|
B | ||
| 24084 | chr1 | 26696659 | GGCGGAGCCGGCAGCGGCGGCGGGCCCGGC | G |
c.267_295del
|
p.Ser90ProfsTer11
|
- | 4.0 |
|
B |