Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19330 | chr13 | 35173537 | T | A |
c.4497T>A
|
p.His1499Gln
|
- | 3.0 |
|
B | |
| 34210 | chr13 | 35183979 | T | G |
c.4835T>G
|
p.Val1612Gly
|
- | 3.0 |
|
B | |
| 5206 | chr13 | 35184072 | G | A |
c.4927+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 27175 | chr13 | 35195896 | G | A |
c.4960G>A
|
p.Glu1654Lys
|
- | 3.0 |
|
B | |
| 25102 | chr13 | 35196036 | G | C |
c.5100G>C
|
p.Met1700Ile
|
- | 3.0 |
|
B | |
| 28764 | chr13 | 35196124 | A | T |
c.5188A>T
|
p.Thr1730Ser
|
- | 3.0 |
|
B | |
| 17348 | chr13 | 35196289 | C | T |
c.5353C>T
|
p.His1785Tyr
|
3.0 |
|
B | ||
| 15918 | chr13 | 35232478 | C | T |
c.5649-14C>T
|
-
|
- | 3.0 |
|
B | |
| 27176 | chr13 | 35232541 | C | T |
c.5698C>T
|
p.Arg1900Cys
|
- | 3.0 |
|
B | |
| 33819 | chr13 | 35290372 | A | C |
c.5777-17A>C
|
-
|
- | 3.0 |
|
B | |
| 22770 | chr13 | 35290421 | G | C |
c.5809G>C
|
p.Val1937Leu
|
- | 3.0 |
|
B | |
| 35057 | chr13 | 35309522 | T | A |
c.5839-6T>A
|
-
|
- | 3.0 |
|
B | |
| 31787 | chr13 | 35432322 | G | T |
c.6233G>T
|
p.Arg2078Met
|
- | 3.0 |
|
B | |
| 33674 | chr13 | 35432327 | C | T |
c.6238C>T
|
p.Arg2080Ter
|
- | 3.0 |
|
B | |
| 15361 | chr13 | 35472539 | G | T |
c.6585+3G>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 26679 | chr13 | 35550603 | C | A |
c.6703+9C>A
|
-
|
3.0 |
|
B | ||
| 13951 | chr13 | 35550956 | C | G |
c.6730C>G
|
p.Gln2244Glu
|
- | 3.0 |
|
B | |
| 29509 | chr13 | 35550992 | C | T |
c.6766C>T
|
p.Arg2256Trp
|
- | 3.0 |
|
B | |
| 17588 | chr13 | 35555025 | C | T |
c.6845C>T
|
p.Ser2282Phe
|
- | 3.0 |
|
B | |
| 28707 | chr13 | 35555057 | G | A |
c.6877G>A
|
p.Glu2293Lys
|
- | 3.0 |
|
B |