Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17049 | chr19 | 54751639 | C | A |
c.716-10C>A
|
-
|
- | 3.0 |
|
B | |
| 23401 | chr19 | 54773333 | G | A |
c.71G>A
|
p.Gly24Glu
|
3.0 |
|
B | ||
| 15373 | chr19 | 54773348 | C | A |
c.86C>A
|
p.Pro29His
|
- | 3.0 |
|
B | |
| 25174 | chr19 | 54773353 | C | T |
c.91C>T
|
p.Leu31Phe
|
3.0 |
|
B | ||
| 35544 | chr19 | 54778593 | C | T |
c.665-19C>T
|
-
|
3.0 |
|
B | ||
| 15688 | chr19 | 54778595 | C | T |
c.665-17C>T
|
-
|
- | 3.0 |
|
B | |
| 31982 | chr19 | 54778605 | G | A |
c.665-7G>A
|
-
|
1.5 |
|
B | ||
| 13935 | chr19 | 54778612 | G | A |
c.665G>A
|
p.Gly222Glu
|
3.0 |
|
B | ||
| 30203 | chr19 | 54778621 | C | T |
c.674C>T
|
p.Ser225Leu
|
- | 3.0 |
|
B | |
| 31939 | chr19 | 54778630 | G | T |
c.683G>T
|
p.Trp228Leu
|
- | 3.0 |
|
B | |
| 26389 | chr19 | 54778680 | T | G |
c.715+18T>G
|
-
|
- | 3.0 |
|
B | |
| 9644 | chr19 | 54782925 | AC | A |
c.724del
|
p.Arg242AspfsTer6
|
- | 3.0 |
|
B | |
| 31940 | chr19 | 54782930 | C | G |
c.724C>G
|
p.Arg242Gly
|
3.0 |
|
B | ||
| 22683 | chr19 | 54782984 | C | T |
c.778C>T
|
p.Leu260Phe
|
- | 3.0 |
|
B | |
| 28934 | chr19 | 54782993 | C | T |
c.787C>T
|
p.Leu263Phe
|
- | 3.0 |
|
B | |
| 34787 | chr19 | 54782994 | T | A |
c.788T>A
|
p.Leu263His
|
- | 3.0 |
|
B | |
| 27910 | chr19 | 54783016 | C | CA |
c.817dup
|
p.Asn273LysfsTer17
|
3.0 |
|
B | ||
| 22405 | chr19 | 54783035 | G | A |
c.817+12G>A
|
-
|
3.0 |
|
B | ||
| 35663 | chr19 | 54783037 | A | C |
c.817+14A>C
|
-
|
- | 3.0 |
|
B | |
| 34825 | chr19 | 54783039 | C | G |
c.817+16C>G
|
-
|
3.0 |
|
B |