Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10045 | chr17 | 16126131 | C | CT |
c.1584dup
|
p.Glu529ArgfsTer7
|
- | 4.0 |
|
B | |
| 9933 | chr17 | 16126140 | C | T |
c.1576G>A
|
p.Glu526Lys
|
3.0 |
|
B | ||
| 19764 | chr17 | 16126142 | G | GT |
c.1573dup
|
p.Thr525AsnfsTer11
|
- | 4.0 |
|
B | |
| 13227 | chr17 | 16139105 | T | C |
c.1255A>G
|
p.Asn419Asp
|
- | 3.0 |
|
B | |
| 33599 | chr17 | 16139120 | G | A |
c.1240C>T
|
p.Arg414Ter
|
4.0 |
|
B | ||
| 10952 | chr17 | 16143641 | T | C |
c.1138A>G
|
p.Ile380Val
|
- | 3.0 |
|
B | |
| 33551 | chr17 | 16143664 | G | A |
c.1115C>T
|
p.Thr372Ile
|
- | 3.0 |
|
B | |
| 6405 | chr17 | 16143697 | C | G |
c.1083-1G>C
|
p.?
|
- | 4.5 |
|
B | |
| 718 | chr17 | 16146521 | G | A |
c.937C>T
|
p.Gln313Ter
|
- | 4.5 |
|
B | |
| 35560 | chr17 | 16146568 | A | T |
c.910-20T>A
|
-
|
- | 3.0 |
|
B | |
| 2501 | chr17 | 16151979 | G | A |
c.809C>T
|
p.Ser270Leu
|
- | 3.0 |
|
B | |
| 32631 | chr17 | 16151993 | CAGTGGCTATAAA | C |
c.790-7_794del
|
p.?
|
- | 4.0 |
|
B | |
| 6979 | chr17 | 16171843 | G | C |
c.395C>G
|
p.Pro132Arg
|
- | 3.0 |
|
B | |
| 22384 | chr17 | 16171948 | G | A |
c.290C>T
|
p.Ser97Phe
|
3.0 |
|
B | ||
| 8080 | chr17 | 16186594 | G | A |
c.202C>T
|
p.Arg68Ter
|
- | 4.0 |
|
B | |
| 20856 | chr17 | 16186599 | C | G |
c.197G>C
|
p.Arg66Pro
|
- | 3.0 |
|
B | |
| 16178 | chr17 | 17216394 | TG | T |
c.1285del
|
p.His429ThrfsTer39
|
4.5 |
|
B | ||
| 3893 | chr17 | 17219014 | C | A |
c.1062+5G>T
|
-
|
- | 3.5 |
|
B | |
| 8608 | chr17 | 17219194 | G | C |
c.887C>G
|
p.Ser296Ter
|
4.5 |
|
B | ||
| 10625 | chr17 | 17221532 | C | T |
c.871+5G>A
|
-
|
- | 3.0 |
|
B |