Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15502 | chr22 | 20983026 | G | A |
c.201-1G>A
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 19124 | chr22 | 20985872 | G | A |
c.295G>A
-
|
p.Asp99Asn
-
|
3.0 |
|
B | ||
| 34724 | chr22 | 20987518 | G | C |
c.335G>C
|
p.Gly112Ala
|
- | 3.0 |
|
B | |
| 13348 | chr22 | 20987533 | C | A |
c.350C>A
|
p.Pro117His
|
- | 3.0 |
|
B | |
| 1642 | chr22 | 20987537 | TTACCACCA | T |
c.355_362del
|
p.Tyr119LeufsTer24
|
- | 4.0 |
|
B | |
| 1140 | chr22 | 20987545 | A | T |
c.362A>T
|
p.His121Leu
|
- | 3.0 |
|
B | |
| 1643 | chr22 | 20987546 | C | G |
c.363C>G
|
p.His121Gln
|
- | 3.0 |
|
B | |
| 5867 | chr22 | 20988050 | G | C |
c.441G>C
|
p.Lys147Asn
|
- | 3.0 |
|
B | |
| 23245 | chr22 | 20988118 | G | A |
c.509G>A
|
p.Arg170Gln
|
4.0 |
|
B | ||
| 13716 | chr22 | 20988118 | G | T |
c.509G>T
|
p.Arg170Leu
|
- | 3.5 |
|
B | |
| 34432 | chr22 | 20988792 | G | T |
c.513G>T
|
p.Leu171Phe
|
- | 3.0 |
|
B | |
| 26268 | chr22 | 20988802 | A | G |
c.523A>G
|
p.Arg175Gly
|
- | 3.0 |
|
B | |
| 8962 | chr22 | 20988844 | A | T |
c.565A>T
|
p.Ile189Phe
|
- | 3.0 |
|
B | |
| 33134 | chr22 | 20988854 | G | C |
c.575G>C
|
p.Gly192Ala
|
- | 3.0 |
|
B | |
| 6166 | chr22 | 20989653 | C | T |
c.622C>T
|
p.Gln208Ter
|
- | 4.0 |
|
B | |
| 27428 | chr22 | 20990385 | G | A |
c.652-1G>A
|
p.?
|
4.0 |
|
B | ||
| 11247 | chr22 | 20990406 | C | G |
c.672C>G
|
p.Ile224Met
|
3.0 |
|
B | ||
| 14268 | chr22 | 20990423 | A | G |
c.689A>G
|
p.Asn230Ser
|
3.0 |
|
B | ||
| 9761 | chr22 | 20990526 | G | A |
c.791+1G>A
|
p.?
|
5.0 |
|
B | ||
| 23548 | chr22 | 20991656 | C | T |
c.820C>T
|
p.Leu274Phe
|
3.0 |
|
B |