Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6028 | chr13 | 32339821 | T | TA |
c.5471dup
|
p.Asn1824LysfsTer5
|
4.0 |
|
B | ||
| 12751 | chr13 | 32339832 | C | T |
c.5477C>T
|
p.Ala1826Val
|
- | 2.5 |
|
B | |
| 1529 | chr13 | 32339847 | T | A |
c.5492T>A
|
p.Ile1831Lys
|
- | 3.0 |
|
B | |
| 14957 | chr13 | 32339991 | A | T |
c.5636A>T
|
p.Glu1879Val
|
- | 3.0 |
|
B | |
| 24171 | chr13 | 32340039 | A | G |
c.5684A>G
|
p.Glu1895Gly
|
- | 3.0 |
|
B | |
| 35399 | chr13 | 32340058 | GGATATTCTTCATAACTCTCTA | G |
c.5708_5728del
|
p.Ile1903_Asp1909del
|
- | 3.0 |
|
B | |
| 26361 | chr13 | 32340132 | G | A |
c.5777G>A
|
p.Ser1926Asn
|
2.5 |
|
B | ||
| 21112 | chr13 | 32340198 | GTGATGTTAGTTTGGAAACTTCAGA | G |
c.5845_5868del
|
p.Asp1949_Asp1956del
|
- | 3.0 |
|
B | |
| 35250 | chr13 | 32340521 | T | G |
c.6166T>G
|
p.Ser2056Ala
|
- | 3.0 |
|
B | |
| 35342 | chr13 | 32341127 | G | A |
c.6772G>A
|
p.Glu2258Lys
|
2.5 |
|
B | ||
| 9067 | chr13 | 32341149 | C | G |
c.6794C>G
|
p.Ser2265Ter
|
- | 4.0 |
|
B | |
| 17707 | chr13 | 32341163 | G | A |
c.6808G>A
|
p.Gly2270Arg
|
- | 2.5 |
|
B | |
| 15247 | chr13 | 32344576 | GA | G |
c.6863del
|
p.Asn2288ThrfsTer3
|
- | 4.0 |
|
B | |
| 26989 | chr13 | 32346871 | G | C |
c.6982G>C
|
p.Glu2328Gln
|
- | 3.0 |
|
B | |
| 35220 | chr13 | 32355024 | G | C |
c.7171G>C
|
p.Glu2391Gln
|
- | 3.0 |
|
B | |
| 9032 | chr13 | 32355108 | G | A |
c.7255G>A
|
p.Val2419Ile
|
- | 3.0 |
|
B | |
| 7452 | chr13 | 32355238 | C | T |
c.7385C>T
|
p.Ser2462Phe
|
- | 3.0 |
|
B | |
| 33332 | chr13 | 32356472 | C | T |
c.7480C>T
|
p.Arg2494Ter
|
4.5 |
|
B | ||
| 25638 | chr13 | 32356539 | C | T |
c.7547C>T
|
p.Ser2516Phe
|
2.5 |
|
B | ||
| 10101 | chr13 | 32357856 | G | A |
c.7732G>A
|
p.Gly2578Arg
|
- | 3.0 |
|
B |