Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30371 | chr19 | 41257497 | C | T |
c.2201C>T
|
p.Ser734Phe
|
3.0 |
|
B | ||
| 5572 | chr19 | 41259710 | C | G |
c.2491C>G
-
|
p.Pro831Ala
-
|
- | 3.0 |
|
B | |
| 34156 | chr19 | 41259812 | C | T |
c.2593C>T
-
|
p.Arg865Cys
-
|
3.0 |
|
B | ||
| 19250 | chr19 | 41259856 | TG | T |
c.2638del
-
|
p.Ala880LeufsTer76
-
|
- | 3.0 |
|
B | |
| 17414 | chr19 | 41332201 | G | A |
c.941C>T
|
p.Pro314Leu
|
- | 3.0 |
|
B | |
| 11328 | chr19 | 41341873 | C | G |
c.860+10G>C
|
-
|
- | 3.0 |
|
B | |
| 26204 | chr19 | 41342196 | T | C |
c.686A>G
|
p.Asp229Gly
|
3.0 |
|
B | ||
| 17415 | chr19 | 41342245 | C | T |
c.637G>A
|
p.Glu213Lys
|
- | 3.0 |
|
B | |
| 16854 | chr19 | 41344779 | G | A |
c.602C>T
|
p.Thr201Ile
|
- | 3.0 |
|
B | |
| 30759 | chr19 | 41348344 | C | T |
c.467G>A
|
p.Arg156His
|
- | 3.0 |
|
B | |
| 13553 | chr19 | 41348466 | G | A |
c.356-11C>T
|
-
|
- | 3.0 |
|
B | |
| 24886 | chr19 | 41352959 | C | T |
c.86G>A
-
|
p.Gly29Glu
-
|
2.5 |
|
B | ||
| 4553 | chr19 | 41761288 | A | G |
c.464A>G
|
p.Asn155Ser
|
3.0 |
|
B | ||
| 4554 | chr19 | 41848460 | G | A |
c.379G>A
-
|
p.Glu127Lys
-
|
3.0 |
|
B | ||
| 3741 | chr19 | 41850699 | A | T |
c.990A>T
|
p.Pro330=
|
- | 3.0 |
|
B | |
| 21468 | chr19 | 41877306 | T | A |
c.2T>A
-
|
p.Met1?
-
|
- | 3.0 |
|
B | |
| 28715 | chr19 | 41877321 | G | A |
c.17G>A
-
|
p.Gly6Glu
-
|
- | 3.0 |
|
B | |
| 33356 | chr19 | 41879005 | C | G |
-
c.95C>G
|
-
p.Ala32Gly
|
- | 3.0 |
|
B | |
| 13230 | chr19 | 41879050 | G | A |
-
c.140G>A
|
-
p.Gly47Glu
|
3.0 |
|
B | ||
| 33711 | chr19 | 41879089 | A | G |
-
c.179A>G
|
-
p.Asn60Ser
|
3.0 |
|
B |