Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20118 | chrX | 71253112 | A | AG |
c.143dup
|
p.Gly49TrpfsTer13
|
4.0 |
|
B | ||
| 22799 | chrX | 71366443 | C | T |
c.69C>T
|
p.Phe23=
|
- | 3.0 |
|
B | |
| 12975 | chrX | 71366502 | G | T |
c.120+8G>T
|
-
|
- | 3.0 |
|
B | |
| 8441 | chrX | 71377183 | C | T |
c.706C>T
|
p.Pro236Ser
|
- | 3.0 |
|
B | |
| 23115 | chrX | 71377588 | T | A |
c.715-15T>A
|
-
|
- | 3.0 |
|
B | |
| 17436 | chrX | 71378226 | C | T |
c.934-9C>T
|
-
|
- | 3.0 |
|
B | |
| 9497 | chrX | 71378311 | C | T |
c.1010C>T
|
p.Pro337Leu
|
- | 3.0 |
|
B | |
| 4340 | chrX | 71383097 | G | T |
c.1880G>T
|
p.Gly627Val
|
- | 3.0 |
|
B | |
| 4582 | chrX | 71383149 | CA | C |
c.1940del
|
p.Lys647ArgfsTer4
|
3.0 |
|
B | ||
| 33928 | chrX | 71383983 | G | A |
c.1969G>A
|
p.Ala657Thr
|
- | 3.0 |
|
B | |
| 8257 | chrX | 71384003 | G | C |
c.1989G>C
|
p.Met663Ile
|
- | 3.0 |
|
B | |
| 3564 | chrX | 71384019 | C | T |
c.2005C>T
|
p.Pro669Ser
|
- | 3.0 |
|
B | |
| 3587 | chrX | 71384020 | C | T |
c.2006C>T
|
p.Pro669Leu
|
- | 3.0 |
|
B | |
| 5088 | chrX | 71384993 | G | A |
c.2170G>A
|
p.Val724Ile
|
- | 3.0 |
|
B | |
| 502 | chrX | 71385041 | T | A |
c.2218T>A
|
p.Leu740Met
|
- | 3.0 |
|
B | |
| 15785 | chrX | 71385047 | C | A |
c.2224C>A
|
p.Gln742Lys
|
- | 3.0 |
|
B | |
| 13232 | chrX | 71387286 | C | T |
c.2252C>T
|
p.Ala751Val
|
- | 3.0 |
|
B | |
| 1868 | chrX | 71387301 | A | G |
c.2267A>G
|
p.His756Arg
|
- | 3.0 |
|
B | |
| 23411 | chrX | 71387306 | A | T |
c.2272A>T
|
p.Met758Leu
|
- | 3.0 |
|
B | |
| 18534 | chrX | 71387399 | T | A |
c.2365T>A
|
p.Leu789Met
|
- | 3.0 |
|
B |