Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17432 | chrX | 47185137 | C | T |
c.2033C>T
|
p.Ser678Phe
|
- | 3.0 |
|
B | |
| 1850 | chrX | 47185142 | C | T |
c.2038C>T
|
p.Arg680Ter
|
- | 4.0 |
|
B | |
| 5601 | chrX | 47185330 | G | C |
c.2129G>C
|
p.Ser710Thr
|
- | 3.0 |
|
B | |
| 22981 | chrX | 47185341 | C | T |
c.2140C>T
|
p.Pro714Ser
|
- | 3.0 |
|
B | |
| 11469 | chrX | 47185481 | A | T |
c.2206A>T
|
p.Ser736Cys
|
- | 3.0 |
|
B | |
| 7255 | chrX | 47185523 | G | T |
c.2248G>T
|
p.Glu750Ter
|
- | 4.0 |
|
B | |
| 5623 | chrX | 47185569 | G | A |
c.2294G>A
|
p.Arg765Gln
|
3.0 |
|
B | ||
| 31384 | chrX | 47185586 | A | C |
c.2311A>C
|
p.Lys771Gln
|
- | 3.0 |
|
B | |
| 35397 | chrX | 47185600 | CCGGCACCAG | C |
c.2327_2335del
|
p.Arg776_Gln778del
|
- | 3.0 |
|
B | |
| 9865 | chrX | 47185607 | C | T |
c.2332C>T
|
p.Gln778Ter
|
- | 4.0 |
|
B | |
| 12221 | chrX | 47185625 | C | T |
c.2350C>T
|
p.His784Tyr
|
3.0 |
|
B | ||
| 34698 | chrX | 47185716 | C | CA |
c.2360dup
|
p.Asn787LysfsTer3
|
- | 4.0 |
|
B | |
| 7702 | chrX | 47185731 | C | G |
c.2371C>G
|
p.His791Asp
|
- | 3.0 |
|
B | |
| 167 | chrX | 47185737 | C | T |
c.2377C>T
|
p.Arg793Ter
|
- | 4.0 |
|
B | |
| 15221 | chrX | 47186070 | G | A |
c.2436G>A
|
p.Met812Ile
|
- | 3.0 |
|
B | |
| 26982 | chrX | 47186159 | C | T |
c.2525C>T
|
p.Ser842Phe
|
- | 3.0 |
|
B | |
| 23114 | chrX | 47186254 | G | A |
c.2538-4G>A
|
-
|
- | 3.0 |
|
B | |
| 23549 | chrX | 47186265 | G | T |
c.2545G>T
|
p.Glu849Ter
|
- | 4.0 |
|
B | |
| 26136 | chrX | 47186333 | G | A |
c.2613G>A
|
p.Trp871Ter
|
- | 4.0 |
|
B | |
| 17748 | chrX | 47233131 | G | A |
c.88G>A
-
|
p.Glu30Lys
-
|
3.0 |
|
B |