Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20689 | chr17 | 38705757 | G | C |
c.109+16G>C
|
-
|
- | 3.0 |
|
B | |
| 16830 | chr17 | 38706973 | C | T |
c.133C>T
|
p.Pro45Ser
|
3.0 |
|
B | ||
| 24195 | chr17 | 38707010 | A | C |
c.170A>C
|
p.Gln57Pro
|
- | 3.0 |
|
B | |
| 15951 | chr17 | 38707513 | G | A |
c.217G>A
|
p.Gly73Arg
|
- | 3.0 |
|
B | |
| 20545 | chr17 | 38707814 | A | T |
c.296A>T
|
p.Asn99Ile
|
- | 3.0 |
|
B | |
| 23909 | chr17 | 38711973 | CAGG | C |
c.682_684del
|
p.Glu228del
|
3.0 |
|
B | ||
| 25958 | chr17 | 38712743 | C | T |
c.773C>T
|
p.Ser258Leu
|
3.0 |
|
B | ||
| 23090 | chr17 | 38713077 | G | T |
c.819+288G>T
|
-
|
- | 3.0 |
|
B | |
| 14119 | chr17 | 38715749 | A | T |
c.957A>T
|
p.Lys319Asn
|
- | 3.0 |
|
B | |
| 24767 | chr17 | 38716456 | G | T |
c.1126G>T
|
p.Ala376Ser
|
- | 3.0 |
|
B | |
| 14077 | chr17 | 38717892 | C | CT |
c.1884dup
|
p.Gly629TrpfsTer8
|
- | 3.0 |
|
B | |
| 22942 | chr17 | 38719794 | C | T |
c.2054C>T
|
p.Ser685Phe
|
- | 3.0 |
|
B | |
| 29003 | chr17 | 38724687 | A | T |
c.2951A>T
|
p.Gln984Leu
|
- | 3.0 |
|
B | |
| 27365 | chr17 | 38898410 | A | G |
c.250-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 32772 | chr17 | 38914376 | G | A |
c.409G>A
|
p.Glu137Lys
|
- | 3.0 |
|
B | |
| 22780 | chr17 | 38918662 | C | A |
c.670C>A
|
p.Gln224Lys
|
- | 3.0 |
|
B | |
| 5140 | chr17 | 39462416 | G | T |
c.345G>T
|
p.Gln115His
|
3.0 |
|
B | ||
| 1307 | chr17 | 39462496 | C | A |
c.425C>A
|
p.Ser142Ter
|
- | 4.0 |
|
B | |
| 3828 | chr17 | 39462686 | A | G |
c.615A>G
|
p.Glu205=
|
- | 3.0 |
|
B | |
| 18016 | chr17 | 39462741 | C | CG |
c.670_671insG
|
p.His224ArgfsTer6
|
- | 4.0 |
|
B |