Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27729 | chrX | 126165263 | C | A |
c.662G>T
|
p.Arg221Leu
|
3.0 |
|
B | ||
| 28873 | chrX | 126165282 | C | T |
c.643G>A
|
p.Gly215Ser
|
- | 3.0 |
|
B | |
| 15066 | chrX | 126165330 | C | T |
c.595G>A
|
p.Ala199Thr
|
3.0 |
|
B | ||
| 17016 | chrX | 126165363 | C | T |
c.562G>A
|
p.Gly188Ser
|
- | 3.0 |
|
B | |
| 27340 | chrX | 126165420 | C | T |
c.505G>A
|
p.Glu169Lys
|
3.0 |
|
B | ||
| 19284 | chrX | 126165484 | G | T |
c.441C>A
|
p.His147Gln
|
1.0 |
|
B | ||
| 15530 | chrX | 126165545 | G | A |
c.380C>T
|
p.Ser127Leu
|
- | 3.0 |
|
B | |
| 32943 | chrX | 126165582 | T | C |
c.343A>G
|
p.Thr115Ala
|
- | 3.0 |
|
B | |
| 30255 | chrX | 126165636 | G | A |
c.289C>T
|
p.Leu97Phe
|
- | 3.0 |
|
B | |
| 23249 | chrX | 126165656 | C | T |
c.269G>A
|
p.Arg90His
|
- | 3.0 |
|
B | |
| 15129 | chrX | 126165687 | C | T |
c.238G>A
|
p.Val80Ile
|
- | 3.0 |
|
B | |
| 35075 | chrX | 126165780 | G | C |
c.145C>G
|
p.Arg49Gly
|
- | 3.0 |
|
B | |
| 22986 | chrX | 126165893 | C | T |
c.32G>A
|
p.Arg11Gln
|
3.0 |
|
B | ||
| 18747 | chrX | 126165902 | C | A |
c.23G>T
|
p.Ser8Ile
|
- | 3.0 |
|
B | |
| 602 | chrX | 129448450 | G | A |
c.3031-7C>T
|
-
|
- | 3.0 |
|
B | |
| 13030 | chrX | 129465674 | C | A |
c.2876G>T
|
p.Gly959Val
|
- | 3.0 |
|
B | |
| 27125 | chrX | 129465675 | C | T |
c.2875G>A
|
p.Gly959Arg
|
- | 3.0 |
|
B | |
| 13936 | chrX | 129465909 | G | A |
c.2752C>T
|
p.Gln918Ter
|
- | 3.5 |
|
B | |
| 10431 | chrX | 129480720 | C | T |
c.2423G>A
|
p.Arg808Gln
|
3.0 |
|
B | ||
| 16653 | chrX | 129481151 | C | T |
c.2252G>A
|
p.Arg751Gln
|
3.0 |
|
B |