Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5602 | chrX | 71248189 | C | T |
c.1948G>A
|
p.Gly650Arg
|
- | 3.0 |
|
B | |
| 35546 | chrX | 71248198 | G | A |
c.1939C>T
|
p.Arg647Ter
|
- | 4.0 |
|
B | |
| 35463 | chrX | 71248263 | C | T |
c.1874G>A
|
p.Arg625Gln
|
- | 3.0 |
|
B | |
| 11763 | chrX | 71248483 | G | C |
c.1779C>G
|
p.Tyr593Ter
|
- | 3.5 |
|
B | |
| 16652 | chrX | 71248771 | C | T |
c.1652G>A
|
p.Arg551His
|
3.0 |
|
B | ||
| 5034 | chrX | 71248796 | G | A |
c.1627C>T
|
p.Pro543Ser
|
- | 3.0 |
|
B | |
| 31076 | chrX | 71249514 | C | T |
c.1417G>A
|
p.Glu473Lys
|
3.0 |
|
B | ||
| 33664 | chrX | 71250428 | G | A |
c.1073+4C>T
|
-
|
3.0 |
|
B | ||
| 27009 | chrX | 71250643 | G | C |
c.862C>G
|
p.Pro288Ala
|
- | 3.0 |
|
B | |
| 13359 | chrX | 71250650 | CCGGGG | C |
c.850_854del
|
p.Pro284AlafsTer94
|
- | 4.0 |
|
B | |
| 32101 | chrX | 71250745 | G | T |
c.779-19C>A
|
-
|
- | 3.0 |
|
B | |
| 15033 | chrX | 71251608 | A | G |
c.668-7T>C
|
-
|
- | 3.0 |
|
B | |
| 27491 | chrX | 71252740 | G | A |
c.516C>T
|
p.Ser172=
|
- | 3.0 |
|
B | |
| 12048 | chrX | 71252810 | G | A |
c.446C>T
|
p.Pro149Leu
|
- | 3.0 |
|
B | |
| 5508 | chrX | 71252946 | C | G |
c.310G>C
|
p.Ala104Pro
|
- | 3.0 |
|
B | |
| 31828 | chrX | 71252976 | C | A |
c.280G>T
|
p.Glu94Ter
|
- | 4.0 |
|
B | |
| 1240 | chrX | 71252981 | G | A |
c.275C>T
|
p.Pro92Leu
|
- | 3.0 |
|
B | |
| 30869 | chrX | 71253012 | G | T |
c.244C>A
|
p.Leu82Met
|
- | 3.0 |
|
B | |
| 5349 | chrX | 71253057 | C | A |
c.199G>T
|
p.Glu67Ter
|
- | 4.0 |
|
B | |
| 2841 | chrX | 71253095 | G | A |
c.161C>T
|
p.Ser54Leu
|
3.0 |
|
B |