Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5907 | chr19 | 11041403 | AC | A |
c.4271del
|
p.Pro1424ArgfsTer39
|
- | 4.0 |
|
B | |
| 8011 | chr19 | 11041469 | C | T |
c.4333C>T
|
p.Arg1445Trp
|
3.0 |
|
B | ||
| 35367 | chr19 | 11041515 | A | C |
c.4379A>C
|
p.Lys1460Thr
|
- | 3.0 |
|
B | |
| 27080 | chr19 | 11041538 | GCCGTGAT | G |
c.4404_4410del
|
p.Val1469SerfsTer40
|
- | 4.0 |
|
B | |
| 14230 | chr19 | 11058265 | C | G |
c.4435C>G
|
p.Arg1479Gly
|
- | 3.0 |
|
B | |
| 6273 | chr19 | 11058307 | G | T |
c.4477G>T
|
p.Glu1493Ter
|
- | 4.5 |
|
B | |
| 27064 | chr19 | 11058375 | G | A |
c.4533+12G>A
|
-
|
2.0 |
|
B | ||
| 29202 | chr19 | 11058864 | A | T |
c.4610A>T
|
p.Gln1537Leu
|
- | 3.5 |
|
B | |
| 18182 | chr19 | 11059766 | C | T |
c.4649C>T
|
p.Ser1550Phe
|
3.0 |
|
B | ||
| 20626 | chr19 | 11059882 | G | T |
c.4765G>T
|
p.Glu1589Ter
|
- | 4.0 |
|
B | |
| 21017 | chr19 | 11060031 | C | T |
c.4769-14C>T
|
-
|
- | 2.5 |
|
B | |
| 22508 | chr19 | 11060183 | A | T |
c.4907A>T
|
p.Glu1636Val
|
- | 3.0 |
|
B | |
| 4003 | chr19 | 11061782 | A | C |
c.4912-2A>C
|
p.?
|
- | 4.0 |
|
B | |
| 32981 | chr19 | 11089399 | A | G |
-
|
-
|
3.0 |
|
B | ||
| 16479 | chr19 | 11100237 | G | A |
c.82G>A
|
p.Glu28Lys
|
3.0 |
|
B | ||
| 26435 | chr19 | 11105212 | C | T |
c.314-8C>T
|
-
|
- | 2.5 |
|
B | |
| 32888 | chr19 | 11105213 | C | T |
c.314-7C>T
|
-
|
2.0 |
|
B | ||
| 16478 | chr19 | 11105258 | G | A |
c.352G>A
|
p.Asp118Asn
|
3.0 |
|
B | ||
| 30794 | chr19 | 11105268 | G | T |
c.362G>T
|
p.Cys121Phe
|
3.0 |
|
B | ||
| 29340 | chr19 | 11105420 | G | A |
c.514G>A
|
p.Asp172Asn
|
3.0 |
|
B |