Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6687 | chr19 | 38469026 | G | A |
c.3442G>A
|
p.Val1148Ile
|
3.0 |
|
B | ||
| 22961 | chr19 | 38469295 | C | T |
c.3557-10C>T
|
-
|
- | 3.0 |
|
B | |
| 31465 | chr19 | 38469428 | T | C |
c.3680T>C
|
p.Ile1227Thr
|
- | 3.0 |
|
B | |
| 7977 | chr19 | 38469518 | G | C |
c.3765+5G>C
|
-
|
3.0 |
|
B | ||
| 17036 | chr19 | 38473405 | C | T |
c.3794C>T
|
p.Thr1265Met
|
3.0 |
|
B | ||
| 19793 | chr19 | 38473406 | GC | G |
c.3801del
|
p.Cys1268AlafsTer4
|
3.0 |
|
B | ||
| 16075 | chr19 | 38473545 | C | T |
c.3934C>T
|
p.Pro1312Ser
|
- | 3.0 |
|
B | |
| 20975 | chr19 | 38473593 | G | A |
c.3982G>A
|
p.Asp1328Asn
|
3.0 |
|
B | ||
| 7403 | chr19 | 38473615 | G | A |
c.4004G>A
|
p.Arg1335His
|
3.0 |
|
B | ||
| 16164 | chr19 | 38473618 | G | A |
c.4007G>A
|
p.Arg1336His
|
3.0 |
|
B | ||
| 9751 | chr19 | 38473638 | G | T |
c.4027G>T
|
p.Glu1343Ter
|
- | 3.0 |
|
B | |
| 17014 | chr19 | 38473656 | G | C |
c.4045G>C
|
p.Glu1349Gln
|
3.0 |
|
B | ||
| 22962 | chr19 | 38473665 | G | A |
c.4054G>A
|
p.Ala1352Thr
|
- | 3.0 |
|
B | |
| 28730 | chr19 | 38473681 | C | A |
c.4070C>A
|
p.Pro1357His
|
- | 3.0 |
|
B | |
| 24510 | chr19 | 38473726 | C | T |
c.4115C>T
|
p.Ala1372Val
|
2.5 |
|
B | ||
| 15527 | chr19 | 38473743 | G | A |
c.4132G>A
|
p.Ala1378Thr
|
3.0 |
|
B | ||
| 33110 | chr19 | 38475298 | G | A |
c.4161-20G>A
|
-
|
2.5 |
|
B | ||
| 32159 | chr19 | 38475326 | T | G |
c.4169T>G
|
p.Phe1390Cys
|
- | 3.0 |
|
B | |
| 30795 | chr19 | 38475327 | C | A |
c.4170C>A
|
p.Phe1390Leu
|
- | 3.0 |
|
B | |
| 20171 | chr19 | 38475406 | G | A |
c.4249G>A
|
p.Ala1417Thr
|
- | 3.0 |
|
B |