Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30797 | chr20 | 22582472 | C | T |
c.770G>A
|
p.Arg257His
|
- | 3.0 |
|
B | |
| 10407 | chr20 | 22582537 | C | A |
c.705G>T
|
p.Lys235Asn
|
- | 3.0 |
|
B | |
| 21773 | chr20 | 22582541 | C | A |
c.701G>T
|
p.Gly234Val
|
3.0 |
|
B | ||
| 21991 | chr20 | 22582726 | C | A |
c.516G>T
|
p.Ser172=
|
3.0 |
|
B | ||
| 28178 | chr20 | 22582775 | GTCTTGGGGTCGCGGGCGCGGC | G |
c.446_466del
|
p.Ser149_Lys155del
|
- | 3.0 |
|
B | |
| 26555 | chr20 | 22582787 | C | T |
c.455G>A
|
p.Arg152His
|
- | 3.0 |
|
B | |
| 13965 | chr20 | 22582876 | C | A |
c.366G>T
|
p.Gln122His
|
- | 3.0 |
|
B | |
| 4709 | chr20 | 22582968 | C | T |
c.274G>A
|
p.Ala92Thr
|
2.5 |
|
B | ||
| 15783 | chr20 | 22582975 | G | A |
c.267C>T
|
p.Gly89=
|
3.0 |
|
B | ||
| 16348 | chr20 | 22582981 | G | A |
c.261C>T
|
p.Ser87=
|
3.0 |
|
B | ||
| 13727 | chr20 | 22583044 | C | A |
c.198G>T
|
p.Ala66=
|
2.5 |
|
B | ||
| 9166 | chr20 | 22584222 | G | A |
c.57C>T
|
p.Ser19=
|
- | 3.0 |
|
B | |
| 32874 | chr20 | 22584230 | C | T |
c.49G>A
|
p.Glu17Lys
|
3.0 |
|
B | ||
| 16947 | chr20 | 23035500 | C | T |
c.17C>T
|
p.Thr6Met
|
3.0 |
|
B | ||
| 22044 | chr20 | 23035617 | C | T |
c.134C>T
|
p.Ala45Val
|
3.0 |
|
B | ||
| 17960 | chr20 | 23035634 | C | T |
c.151C>T
|
p.Gln51Ter
|
- | 3.5 |
|
B | |
| 32170 | chr20 | 23035790 | G | A |
c.307G>A
|
p.Val103Met
|
3.0 |
|
B | ||
| 20428 | chr20 | 23035913 | C | A |
c.430C>A
|
p.Arg144Ser
|
- | 3.0 |
|
B | |
| 3465 | chr20 | 23036018 | C | T |
c.535C>T
|
p.Leu179Phe
|
- | 3.0 |
|
B | |
| 28577 | chr20 | 23036186 | G | A |
c.703G>A
|
p.Val235Met
|
3.0 |
|
B |