Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10880 | chr17 | 39492746 | TTTAGAATTTGTTGTCCTCGTTATGGAGAAAGAAGACAA | T |
c.2109-4_2142del
|
p.?
|
- | 4.0 |
|
B | |
| 2003 | chr17 | 39492780 | G | A |
c.2138G>A
|
p.Arg713Lys
|
- | 3.0 |
|
B | |
| 25481 | chr17 | 39492830 | AT | A |
c.2190del
|
p.Ile730MetfsTer23
|
- | 4.0 |
|
B | |
| 27366 | chr17 | 39511526 | C | T |
c.2667-3C>T
|
-
|
3.0 |
|
B | ||
| 9839 | chr17 | 39511555 | C | T |
c.2693C>T
|
p.Thr898Ile
|
- | 3.0 |
|
B | |
| 20766 | chr17 | 39511639 | C | T |
c.2768+9C>T
|
-
|
3.0 |
|
B | ||
| 1370 | chr17 | 39515771 | C | G |
c.2809C>G
|
p.Gln937Glu
|
- | 3.0 |
|
B | |
| 9464 | chr17 | 39517541 | G | A |
c.2948G>A
|
p.Arg983Gln
|
3.0 |
|
B | ||
| 35611 | chr17 | 39520002 | G | C |
c.3010G>C
|
p.Asp1004His
|
- | 3.0 |
|
B | |
| 11843 | chr17 | 39520056 | G | A |
c.3064G>A
|
p.Asp1022Asn
|
- | 3.0 |
|
B | |
| 22582 | chr17 | 39525933 | A | C |
c.3377A>C
|
p.Gln1126Pro
|
- | 3.0 |
|
B | |
| 1611 | chr17 | 39530618 | A | T |
c.3775A>T
|
p.Ile1259Phe
|
- | 3.0 |
|
B | |
| 6162 | chr17 | 39530654 | G | A |
c.3811G>A
|
p.Gly1271Arg
|
- | 3.0 |
|
B | |
| 19222 | chr17 | 39530687 | G | C |
c.3844G>C
|
p.Val1282Leu
|
- | 3.0 |
|
B | |
| 35626 | chr17 | 39531260 | CG | C |
c.4422del
|
p.Pro1475LeufsTer24
|
- | 4.0 |
|
B | |
| 17109 | chr17 | 39710164 | C | T |
c.722C>T
|
p.Ala241Val
|
- | 3.0 |
|
B | |
| 6802 | chr17 | 39710173 | G | T |
c.731G>T
|
p.Cys244Phe
|
- | 3.0 |
|
B | |
| 32098 | chr17 | 39710182 | C | G |
c.740C>G
|
p.Pro247Arg
|
- | 3.0 |
|
B | |
| 12333 | chr17 | 39710409 | G | T |
c.829G>T
|
p.Asp277Tyr
|
- | 3.0 |
|
B | |
| 8761 | chr17 | 39710422 | C | T |
c.842C>T
|
p.Ser281Phe
|
- | 3.0 |
|
B |