Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29755 | chrX | 65739883 | A | T |
c.1724A>T
|
p.Glu575Val
|
- | 3.0 |
|
B | |
| 32791 | chrX | 67545214 | T | C |
c.68T>C
|
p.Phe23Ser
|
- | 3.0 |
|
B | |
| 27275 | chrX | 67545216 | C | T |
c.70C>T
|
p.Gln24Ter
|
- | 3.0 |
|
B | |
| 27332 | chrX | 67545238 | G | A |
c.92G>A
|
p.Arg31His
|
- | 3.0 |
|
B | |
| 5552 | chrX | 67545285 | G | A |
c.139G>A
|
p.Ala47Thr
|
- | 3.0 |
|
B | |
| 15644 | chrX | 67545297 | G | T |
c.151G>T
|
p.Gly51Cys
|
- | 3.0 |
|
B | |
| 17683 | chrX | 67545306 | T | TTGC |
c.170_172dup
|
p.Leu57dup
|
3.5 |
|
B | ||
| 3814 | chrX | 67545316 | TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA | T |
c.192_239del
|
p.Gln65_Gln80del
|
3.0 |
|
B | ||
| 28329 | chrX | 67545492 | C | A |
c.346C>A
|
p.Pro116Thr
|
3.0 |
|
B | ||
| 19348 | chrX | 67545538 | G | T |
c.392G>T
|
p.Cys131Phe
|
- | 3.0 |
|
A | |
| 13157 | chrX | 67545656 | T | G |
c.510T>G
|
p.Thr170=
|
- | 3.0 |
|
B | |
| 29248 | chrX | 67545674 | C | A |
c.528C>A
|
p.Ser176Arg
|
2.0 |
|
B | ||
| 13158 | chrX | 67545789 | T | C |
c.643T>C
|
p.Ser215Pro
|
- | 3.0 |
|
B | |
| 22148 | chrX | 67545795 | G | T |
c.649G>T
|
p.Ala217Ser
|
- | 3.0 |
|
B | |
| 1910 | chrX | 67545831 | A | C |
c.685A>C
|
p.Thr229Pro
|
3.0 |
|
B | ||
| 9232 | chrX | 67545976 | C | A |
c.830C>A
|
p.Pro277His
|
- | 3.0 |
|
B | |
| 26897 | chrX | 67545978 | G | C |
c.832G>C
|
p.Ala278Pro
|
- | 3.0 |
|
B | |
| 34437 | chrX | 67546045 | G | C |
c.899G>C
|
p.Gly300Ala
|
- | 3.0 |
|
B | |
| 25274 | chrX | 67546077 | C | T |
c.931C>T
|
p.Pro311Ser
|
- | 3.0 |
|
B | |
| 5525 | chrX | 67546122 | G | T |
c.976G>T
|
p.Gly326Cys
|
- | 3.0 |
|
B |