Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28567 | chr22 | 41177147 | G | C |
c.5436G>C
|
p.Lys1812Asn
|
- | 3.0 |
|
B | |
| 12680 | chr22 | 41177152 | G | A |
c.5441G>A
|
p.Arg1814Gln
|
3.0 |
|
B | ||
| 31014 | chr22 | 41177154 | C | T |
c.5443C>T
|
p.Gln1815Ter
|
4.0 |
|
B | ||
| 12377 | chr22 | 41177173 | G | A |
c.5462G>A
|
p.Arg1821Gln
|
3.0 |
|
B | ||
| 8797 | chr22 | 41177187 | C | G |
c.5476C>G
|
p.Gln1826Glu
|
- | 3.0 |
|
B | |
| 1468 | chr22 | 41177203 | G | C |
c.5492G>C
|
p.Arg1831Thr
|
4.0 |
|
B | ||
| 15724 | chr22 | 41177314 | C | T |
c.5603C>T
|
p.Thr1868Met
|
2.0 |
|
B | ||
| 6642 | chr22 | 41177625 | A | G |
c.5914A>G
|
p.Met1972Val
|
2.5 |
|
B | ||
| 6795 | chr22 | 41177802 | C | T |
c.6091C>T
|
p.Pro2031Ser
|
2.5 |
|
B | ||
| 33297 | chr22 | 41177937 | G | A |
c.6226G>A
|
p.Ala2076Thr
|
3.0 |
|
B | ||
| 6890 | chr22 | 41177973 | C | T |
c.6262C>T
|
p.Arg2088Trp
|
2.5 |
|
B | ||
| 33968 | chr22 | 41178030 | C | G |
c.6319C>G
|
p.Pro2107Ala
|
- | 3.0 |
|
B | |
| 31710 | chr22 | 41178465 | G | C |
c.6754G>C
|
p.Glu2252Gln
|
- | 3.0 |
|
B | |
| 21675 | chr22 | 41178661 | G | A |
c.6950G>A
|
p.Arg2317Gln
|
2.5 |
|
B | ||
| 31637 | chr22 | 41178685 | C | G |
c.6974C>G
|
p.Ser2325Cys
|
- | 3.0 |
|
B | |
| 2619 | chr22 | 45330697 | G | A |
c.617G>A
|
p.Gly206Glu
|
3.0 |
|
B | ||
| 3342 | chr22 | 46235135 | C | T |
c.1162C>T
|
p.Arg388Cys
|
- | 3.0 |
|
B | |
| 12232 | chr22 | 49886168 | G | A |
c.2506G>A
|
p.Val836Ile
|
3.0 |
|
B | ||
| 4789 | chr22 | 50160722 | G | A |
c.3359G>A
|
p.Arg1120Gln
|
3.0 |
|
B | ||
| 32071 | chr22 | 50460398 | G | A |
c.3157C>T
|
p.Arg1053Trp
|
2.0 |
|
B |