Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13465 | chrX | 120560247 | G | A |
c.392C>T
|
p.Ala131Val
|
- | 3.0 |
|
B | |
| 7017 | chrX | 120560584 | C | T |
c.55G>A
|
p.Glu19Lys
|
- | 3.0 |
|
B | |
| 28791 | chrX | 120560650 | G | A |
c.-12C>T
|
-
|
- | 3.0 |
|
B | |
| 5753 | chrX | 123464984 | C | G |
c.2196C>G
|
p.Phe732Leu
|
- | 3.0 |
|
B | |
| 5669 | chrX | 123886213 | T | C |
c.551T>C
|
p.Leu184Ser
|
- | 3.0 |
|
B | |
| 8664 | chrX | 123891280 | C | A |
c.1020C>A
|
p.Asn340Lys
|
- | 3.0 |
|
B | |
| 3031 | chrX | 123892743 | G | A |
c.1069G>A
|
p.Glu357Lys
|
- | 3.0 |
|
B | |
| 32174 | chrX | 123900589 | T | C |
c.1196T>C
|
p.Ile399Thr
|
- | 3.0 |
|
B | |
| 4061 | chrX | 123907136 | G | A |
c.1449G>A
|
p.Met483Ile
|
- | 3.0 |
|
B | |
| 18734 | chrX | 124031007 | G | T |
c.170G>T
|
p.Gly57Val
|
- | 3.0 |
|
B | |
| 8399 | chrX | 124031106 | T | C |
c.269T>C
|
p.Met90Thr
|
- | 3.0 |
|
B | |
| 5642 | chrX | 124037528 | C | A |
c.290C>A
|
p.Ser97Ter
|
- | 4.0 |
|
B | |
| 3840 | chrX | 124037566 | C | T |
c.328C>T
|
p.Arg110Ter
|
- | 4.0 |
|
B | |
| 142 | chrX | 124042567 | A | T |
c.386-2A>T
|
p.?
|
- | 4.67 |
|
A | |
| 26014 | chrX | 124042617 | T | C |
c.434T>C
|
p.Ile145Thr
|
- | 3.0 |
|
B | |
| 12649 | chrX | 124045167 | A | G |
c.466A>G
|
p.Ser156Gly
|
- | 3.0 |
|
B | |
| 25447 | chrX | 124045306 | C | T |
c.605C>T
|
p.Ser202Leu
|
- | 3.0 |
|
B | |
| 28055 | chrX | 124045347 | C | T |
c.646C>T
|
p.Arg216Ter
|
- | 4.5 |
|
B | |
| 1888 | chrX | 124045348 | G | A |
c.647G>A
|
p.Arg216Gln
|
- | 3.0 |
|
B | |
| 5371 | chrX | 124047441 | G | A |
c.755G>A
|
p.Arg252Gln
|
- | 3.0 |
|
B |