Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11119 | chr16 | 15737618 | G | A |
c.3124C>T
|
p.Arg1042Trp
|
3.0 |
|
B | ||
| 20500 | chr16 | 15741504 | G | T |
c.2818C>A
|
p.Gln940Lys
|
- | 3.0 |
|
B | |
| 18947 | chr16 | 15741631 | C | G |
c.2691G>C
|
p.Gln897His
|
- | 3.0 |
|
B | |
| 28562 | chr16 | 15741797 | T | C |
c.2615A>G
|
p.Glu872Gly
|
- | 3.0 |
|
B | |
| 24172 | chr16 | 15745215 | G | A |
c.2434C>T
|
p.Gln812Ter
|
- | 4.0 |
|
B | |
| 30263 | chr16 | 15750288 | C | G |
c.1908G>C
|
p.Glu636Asp
|
3.0 |
|
B | ||
| 26729 | chr16 | 15753396 | T | C |
c.1862A>G
|
p.Asp621Gly
|
3.0 |
|
B | ||
| 30652 | chr16 | 15753411 | G | A |
c.1847C>T
|
p.Ala616Val
|
- | 3.0 |
|
B | |
| 31415 | chr16 | 15753447 | G | A |
c.1811C>T
|
p.Thr604Ile
|
3.0 |
|
B | ||
| 28333 | chr16 | 15753525 | G | T |
c.1750-17C>A
|
-
|
- | 3.0 |
|
B | |
| 30653 | chr16 | 15759632 | G | A |
c.1345C>T
|
p.Arg449Trp
|
3.0 |
|
B | ||
| 28334 | chr16 | 15759678 | G | T |
c.1299C>A
|
p.Phe433Leu
|
- | 3.0 |
|
B | |
| 21046 | chr16 | 15759686 | G | A |
c.1291C>T
|
p.Arg431Cys
|
- | 3.0 |
|
B | |
| 26582 | chr16 | 15759748 | G | A |
c.1249-20C>T
|
-
|
- | 3.0 |
|
B | |
| 18163 | chr16 | 15771578 | C | T |
c.1024G>A
|
p.Glu342Lys
|
3.0 |
|
B | ||
| 13794 | chr16 | 15776133 | C | G |
c.834G>C
|
p.Glu278Asp
|
- | 3.0 |
|
B | |
| 23881 | chr16 | 15776150 | G | A |
c.817C>T
|
p.Arg273Cys
|
3.0 |
|
B | ||
| 30499 | chr16 | 15778770 | G | A |
c.790+10C>T
|
-
|
- | 3.0 |
|
B | |
| 29659 | chr16 | 15778774 | G | A |
c.790+6C>T
|
-
|
- | 3.0 |
|
B | |
| 17531 | chr16 | 15838147 | C | T |
c.106G>A
|
p.Val36Ile
|
3.0 |
|
B |