Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16406 | chr17 | 7884969 | G | GGCCCCGGTCGT |
-
|
-
|
- | 3.0 |
|
B | |
| 21419 | chr17 | 7884974 | G | C |
-
|
-
|
- | 3.0 |
|
B | |
| 17056 | chr17 | 7884984 | C | G |
-
|
-
|
3.0 |
|
B | ||
| 11734 | chr17 | 7890649 | G | A |
c.292G>A
|
p.Gly98Arg
|
3.0 |
|
B | ||
| 7607 | chr17 | 7890961 | G | C |
c.406G>C
|
p.Ala136Pro
|
- | 3.0 |
|
B | |
| 35433 | chr17 | 7893297 | C | G |
c.521C>G
|
p.Ala174Gly
|
- | 3.0 |
|
B | |
| 9301 | chr17 | 7893429 | C | T |
c.653C>T
|
p.Ala218Val
|
3.0 |
|
B | ||
| 1712 | chr17 | 7893462 | C | A |
c.686C>A
|
p.Ser229Ter
|
- | 3.0 |
|
B | |
| 32606 | chr17 | 7893471 | C | T |
c.695C>T
|
p.Thr232Ile
|
3.0 |
|
B | ||
| 20412 | chr17 | 7893814 | A | G |
c.803A>G
|
p.His268Arg
|
3.0 |
|
B | ||
| 32607 | chr17 | 7894266 | G | A |
c.1075+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 1527 | chr17 | 7894579 | C | T |
c.1240C>T
|
p.Pro414Ser
|
- | 3.0 |
|
B | |
| 22482 | chr17 | 7894627 | C | T |
c.1269+19C>T
|
-
|
- | 3.0 |
|
B | |
| 10908 | chr17 | 7895040 | G | A |
c.1393G>A
|
p.Gly465Ser
|
3.0 |
|
B | ||
| 25957 | chr17 | 7895104 | C | T |
c.1457C>T
|
p.Pro486Leu
|
- | 3.0 |
|
B | |
| 25133 | chr17 | 7895388 | G | A |
c.1553G>A
|
p.Gly518Glu
|
- | 3.0 |
|
B | |
| 20143 | chr17 | 7895446 | AC | A |
c.1618del
|
p.Arg540ValfsTer16
|
3.0 |
|
B | ||
| 7363 | chr17 | 7897195 | G | T |
c.1820G>T
|
p.Arg607Leu
|
- | 3.0 |
|
B | |
| 975 | chr17 | 7897272 | G | A |
c.1897G>A
|
p.Val633Ile
|
3.0 |
|
B | ||
| 12375 | chr17 | 7899038 | C | T |
c.2179C>T
|
p.Arg727Trp
|
3.0 |
|
B |