Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21967 | chr22 | 29674835 | G | A |
c.1341-1G>A
|
p.?
|
- | 4.5 |
|
B | |
| 20651 | chr22 | 29674852 | C | T |
c.1357C>T
|
p.Gln453Ter
|
- | 4.5 |
|
B | |
| 19242 | chr22 | 29674882 | G | A |
c.1387G>A
|
p.Glu463Lys
|
2.0 |
|
B | ||
| 32511 | chr22 | 29678221 | TGCCTCCTGACATACCAA | T |
c.1475_1491del
|
p.Pro492LeufsTer6
|
- | 4.0 |
|
B | |
| 29042 | chr22 | 29678253 | GGT | G |
c.1506_1507del
|
p.Asp503GlnfsTer10
|
- | 4.0 |
|
B | |
| 13045 | chr22 | 29678311 | TAGAG | T |
c.1564_1567del
|
p.Glu522LysfsTer27
|
- | 4.0 |
|
B | |
| 13864 | chr22 | 29681468 | T | C |
c.1604T>C
|
p.Leu535Pro
|
3.5 |
|
B | ||
| 35699 | chr22 | 29681525 | G | T |
c.1661G>T
|
p.Arg554Met
|
- | 3.0 |
|
B | |
| 14544 | chr22 | 29681569 | G | A |
c.1705G>A
|
p.Gly569Ser
|
- | 3.0 |
|
B | |
| 19932 | chr22 | 29681595 | TA | T |
c.1736del
|
p.Lys579SerfsTer20
|
- | 4.0 |
|
B | |
| 22113 | chr22 | 30119026 | G | T |
c.389G>T
|
p.Gly130Val
|
- | 3.0 |
|
B | |
| 12777 | chr22 | 30119037 | G | A |
c.400G>A
|
p.Asp134Asn
|
3.0 |
|
B | ||
| 34789 | chr22 | 30121760 | T | G |
c.539T>G
|
p.Leu180Arg
|
- | 3.0 |
|
B | |
| 25297 | chr22 | 30121999 | G | A |
c.604G>A
|
p.Glu202Lys
|
- | 3.0 |
|
B | |
| 28498 | chr22 | 30122167 | G | C |
c.772G>C
|
p.Ala258Pro
|
- | 3.0 |
|
B | |
| 25008 | chr22 | 30263856 | C | T |
c.*27G>A
|
-
|
3.0 |
|
B | ||
| 33863 | chr22 | 30263901 | C | A |
c.741G>T
|
p.Arg247Ser
|
- | 3.0 |
|
B | |
| 19150 | chr22 | 30263989 | C | T |
c.653G>A
|
p.Arg218Gln
|
3.0 |
|
B | ||
| 33992 | chr22 | 30264201 | C | A |
c.441G>T
|
p.Arg147Ser
|
- | 3.0 |
|
B | |
| 20472 | chr22 | 30264363 | C | T |
c.279G>A
|
p.Arg93=
|
- | 3.0 |
|
B |