Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25135 | chrX | 45085928 | G | A |
c.3653G>A
|
p.Trp1218Ter
|
- | 5.0 |
|
B | |
| 8957 | chrX | 45089840 | G | C |
c.3802G>C
|
p.Asp1268His
|
- | 3.0 |
|
B | |
| 25143 | chrX | 45089862 | G | A |
c.3824G>A
|
p.Gly1275Asp
|
- | 3.5 |
|
B | |
| 10536 | chrX | 45090706 | GT | G |
c.3893-6del
|
-
|
2.0 |
|
B | ||
| 20439 | chrX | 45090706 | GTT | G |
c.3893-7_3893-6del
|
-
|
3.0 |
|
B | ||
| 10326 | chrX | 45090750 | G | C |
c.3920G>C
|
p.Arg1307Pro
|
- | 3.0 |
|
B | |
| 5622 | chrX | 45090754 | C | G |
c.3924C>G
|
p.Tyr1308Ter
|
- | 4.0 |
|
B | |
| 6491 | chrX | 45107424 | G | A |
c.4049G>A
|
p.Arg1350Lys
|
3.0 |
|
B | ||
| 19282 | chrX | 45107550 | T | C |
c.4161+14T>C
|
-
|
1.0 |
|
B | ||
| 11491 | chrX | 45110172 | G | A |
c.4255G>A
|
p.Gly1419Arg
|
1.5 |
|
B | ||
| 7893 | chrX | 45111410 | G | C |
c.4361G>C
|
p.Ter1454SerextTer8
|
- | 3.0 |
|
B | |
| 7409 | chrX | 47145430 | G | T |
c.-181G>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 16866 | chrX | 47145449 | G | A |
c.-162G>A
-
|
-
-
|
- | 4.0 |
|
B | |
| 16867 | chrX | 47145457 | G | A |
c.-154G>A
-
|
-
-
|
3.0 |
|
B | ||
| 13656 | chrX | 47145505 | G | A |
c.-126+20G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 17431 | chrX | 47147337 | C | T |
c.-125-20C>T
-
|
-
-
|
3.0 |
|
B | ||
| 13673 | chrX | 47169358 | C | T |
c.61C>T
|
p.Arg21Cys
|
3.0 |
|
B | ||
| 7578 | chrX | 47169422 | G | A |
c.125G>A
|
p.Arg42His
|
2.5 |
|
B | ||
| 7183 | chrX | 47169448 | C | T |
c.151C>T
|
p.Gln51Ter
|
- | 4.0 |
|
B | |
| 24177 | chrX | 47169501 | G | C |
c.201+3G>C
|
-
|
- | 3.0 |
|
B |