Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29122 | chr17 | 31214586 | G | T |
c.1527+1G>T
|
p.?
|
4.0 |
|
B | ||
| 22679 | chr17 | 31218989 | CT | C |
c.1528-9del
|
-
|
2.0 |
|
B | ||
| 32554 | chr17 | 31219035 | GGCAGTACA | G |
c.1563_1570del
|
p.Ser521ArgfsTer34
|
- | 4.0 |
|
B | |
| 15524 | chr17 | 31221904 | C | A |
c.1696C>A
|
p.Pro566Thr
|
- | 3.0 |
|
B | |
| 15525 | chr17 | 31221905 | C | G |
c.1697C>G
|
p.Pro566Arg
|
- | 3.0 |
|
B | |
| 9498 | chr17 | 31221932 | A | G |
c.1721+3A>G
|
-
|
4.0 |
|
B | ||
| 8890 | chr17 | 31223455 | T | G |
c.1733T>G
|
p.Leu578Arg
|
3.5 |
|
B | ||
| 28046 | chr17 | 31223553 | C | A |
c.1831C>A
|
p.Leu611Ile
|
- | 3.0 |
|
B | |
| 11643 | chr17 | 31225083 | A | AT |
c.1846-5dup
|
-
|
2.0 |
|
B | ||
| 25394 | chr17 | 31225116 | C | T |
c.1867C>T
|
p.His623Tyr
|
2.5 |
|
B | ||
| 7940 | chr17 | 31226459 | A | AC |
c.2033dup
|
p.Ile679AspfsTer21
|
5.0 |
|
B | ||
| 3553 | chr17 | 31226459 | AC | A |
c.2033del
|
p.Pro678ArgfsTer10
|
4.5 |
|
B | ||
| 4284 | chr17 | 31226463 | C | T |
c.2030C>T
|
p.Pro677Leu
|
- | 3.0 |
|
B | |
| 30966 | chr17 | 31226474 | C | T |
c.2041C>T
|
p.Arg681Ter
|
4.5 |
|
B | ||
| 29205 | chr17 | 31226483 | C | T |
c.2050C>T
|
p.Gln684Ter
|
4.5 |
|
B | ||
| 12783 | chr17 | 31226501 | G | GC |
c.2071dup
|
p.Leu691ProfsTer9
|
- | 4.0 |
|
B | |
| 8355 | chr17 | 31226564 | C | T |
c.2131C>T
|
p.Arg711Cys
|
2.5 |
|
B | ||
| 9235 | chr17 | 31226651 | G | T |
c.2218G>T
|
p.Glu740Ter
|
4.0 |
|
B | ||
| 8807 | chr17 | 31227521 | A | G |
c.2326-2A>G
|
p.?
|
4.0 |
|
B | ||
| 15752 | chr17 | 31227527 | G | A |
c.2330G>A
|
p.Trp777Ter
|
4.5 |
|
B |