Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5996 | chr22 | 41157304 | C | T |
c.3397C>T
|
p.Arg1133Trp
|
3.0 |
|
B | ||
| 34933 | chr22 | 41160641 | G | A |
c.3591-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 7817 | chr22 | 41162772 | C | T |
c.3721C>T
|
p.Pro1241Ser
|
- | 3.0 |
|
B | |
| 22798 | chr22 | 41164069 | G | C |
c.3745G>C
|
p.Glu1249Gln
|
- | 3.0 |
|
B | |
| 8951 | chr22 | 41166598 | G | C |
c.3807-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 1715 | chr22 | 41166637 | C | T |
c.3845C>T
|
p.Thr1282Ile
|
- | 3.0 |
|
B | |
| 29912 | chr22 | 41166660 | G | A |
c.3868G>A
|
p.Ala1290Thr
|
3.0 |
|
B | ||
| 29913 | chr22 | 41166671 | G | C |
c.3874+5G>C
|
-
|
- | 3.0 |
|
B | |
| 25974 | chr22 | 41168546 | A | T |
c.3972A>T
|
p.Arg1324Ser
|
- | 3.0 |
|
B | |
| 9486 | chr22 | 41168850 | C | G |
c.4155C>G
|
p.Cys1385Trp
|
- | 3.0 |
|
B | |
| 5684 | chr22 | 41169549 | A | G |
c.4219A>G
|
p.Lys1407Glu
|
- | 3.0 |
|
B | |
| 693 | chr22 | 41169571 | A | G |
c.4241A>G
|
p.Tyr1414Cys
|
- | 3.5 |
|
B | |
| 7149 | chr22 | 41170482 | C | G |
c.4363C>G
|
p.Gln1455Glu
|
3.0 |
|
B | ||
| 6407 | chr22 | 41170520 | CA | C |
c.4408del
|
p.Met1470CysfsTer26
|
- | 4.0 |
|
B | |
| 8762 | chr22 | 41172573 | G | T |
c.4527G>T
|
p.Trp1509Cys
|
- | 3.0 |
|
B | |
| 12307 | chr22 | 41172584 | T | G |
c.4538T>G
|
p.Leu1513Arg
|
- | 3.0 |
|
B | |
| 3072 | chr22 | 41173699 | G | C |
c.4694G>C
|
p.Arg1565Thr
|
- | 3.0 |
|
B | |
| 25215 | chr22 | 41176404 | G | GA |
c.4938dup
|
p.Ala1647SerfsTer26
|
- | 4.0 |
|
B | |
| 1511 | chr22 | 41176900 | C | G |
c.5189C>G
|
p.Ser1730Cys
|
- | 3.0 |
|
B | |
| 28444 | chr22 | 41177043 | G | A |
c.5332G>A
|
p.Gly1778Arg
|
3.0 |
|
B |