Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5971 | chr13 | 48463807 | A | T |
c.2183A>T
|
p.Tyr728Phe
|
- | 3.0 |
|
B | |
| 17011 | chr13 | 48463823 | TG | T |
c.2200del
|
p.Ala734LeufsTer10
|
- | 4.0 |
|
B | |
| 9835 | chr13 | 48463827 | G | A |
c.2203G>A
|
p.Val735Ile
|
- | 3.0 |
|
B | |
| 24620 | chr13 | 48463833 | G | T |
c.2209G>T
|
p.Glu737Ter
|
4.5 |
|
B | ||
| 18151 | chr13 | 48465038 | C | T |
c.2252C>T
|
p.Ser751Phe
|
- | 3.0 |
|
B | |
| 1124 | chr13 | 48465040 | A | T |
c.2254A>T
|
p.Ile752Phe
|
- | 3.0 |
|
B | |
| 31376 | chr13 | 48465042 | TATAGTATTCTATAACTCGGTCTTCATGCAGAGAC | T |
c.2257_2290del
|
p.Ile753Ter
|
- | 4.0 |
|
B | |
| 35346 | chr13 | 48465051 | C | A |
c.2265C>A
|
p.Phe755Leu
|
- | 3.0 |
|
B | |
| 9033 | chr13 | 48465070 | C | T |
c.2284C>T
|
p.Gln762Ter
|
4.5 |
|
B | ||
| 32605 | chr13 | 48465116 | G | A |
c.2325+5G>A
|
-
|
3.0 |
|
B | ||
| 30421 | chr13 | 48465216 | GTCACCAATACCTCACATTC | G |
c.2338_2356del
|
p.Ser780LeufsTer24
|
- | 4.0 |
|
B | |
| 8187 | chr13 | 48465218 | C | G |
c.2339C>G
|
p.Ser780Ter
|
4.5 |
|
B | ||
| 18025 | chr13 | 48465260 | G | C |
c.2381G>C
|
p.Ser794Thr
|
2.5 |
|
B | ||
| 35203 | chr13 | 48465269 | T | A |
c.2390T>A
|
p.Leu797Ter
|
- | 4.0 |
|
B | |
| 28095 | chr13 | 48465269 | T | TA |
c.2391dup
|
p.Arg798ThrfsTer17
|
- | 4.0 |
|
B | |
| 35058 | chr13 | 48465328 | G | T |
c.2449G>T
|
p.Glu817Ter
|
- | 4.0 |
|
B | |
| 12945 | chr13 | 48465369 | G | T |
c.2489+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 14796 | chr13 | 48473343 | T | A |
c.2490-17T>A
|
-
|
- | 3.0 |
|
B | |
| 29722 | chr13 | 48473358 | A | C |
c.2490-2A>C
|
p.?
|
- | 4.0 |
|
B | |
| 12437 | chr13 | 48473391 | G | A |
c.2520+1G>A
|
p.?
|
4.0 |
|
B |