Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31117 | chrX | 41345257 | A | T |
c.1103A>T
|
p.Asp368Val
|
- | 3.0 |
|
B | |
| 6062 | chrX | 41345287 | CTATGATGTTT | C |
c.1134_1143del
|
p.Met379ValfsTer16
|
- | 4.0 |
|
B | |
| 2879 | chrX | 41345438 | TCTTGGCTGTAGGAAGA | T |
c.1206_1221del
|
p.Phe402LeufsTer13
|
- | 4.0 |
|
B | |
| 2563 | chrX | 41345459 | G | C |
c.1226G>C
|
p.Gly409Ala
|
- | 3.0 |
|
B | |
| 20504 | chrX | 41345462 | C | T |
c.1229C>T
|
p.Ser410Phe
|
- | 3.0 |
|
B | |
| 28654 | chrX | 41345509 | G | C |
c.1276G>C
|
p.Asp426His
|
- | 3.0 |
|
B | |
| 15252 | chrX | 41345551 | A | T |
c.1315+3A>T
|
-
|
- | 3.0 |
|
B | |
| 24676 | chrX | 41346336 | C | T |
c.1423C>T
|
p.Arg475Cys
|
3.5 |
|
B | ||
| 25175 | chrX | 41346342 | C | A |
c.1429C>A
|
p.Gln477Lys
|
- | 4.0 |
|
B | |
| 11402 | chrX | 41346589 | C | T |
c.1582C>T
|
p.Arg528Cys
|
3.5 |
|
B | ||
| 3937 | chrX | 41346604 | G | T |
c.1597G>T
|
p.Gly533Ter
|
- | 4.0 |
|
B | |
| 29914 | chrX | 41346610 | G | A |
c.1603G>A
|
p.Val535Ile
|
- | 3.0 |
|
B | |
| 33041 | chrX | 41346614 | G | C |
c.1607G>C
|
p.Gly536Ala
|
- | 3.0 |
|
B | |
| 5732 | chrX | 41346867 | A | G |
c.1624A>G
|
p.Thr542Ala
|
- | 3.0 |
|
B | |
| 26589 | chrX | 41346983 | C | A |
c.1740C>A
|
p.Tyr580Ter
|
- | 4.0 |
|
B | |
| 3898 | chrX | 41347350 | G | A |
c.1808G>A
|
p.Arg603Gln
|
- | 3.0 |
|
B | |
| 25681 | chrX | 41347381 | CAGCAGCAGCCGCGCA | C |
c.1852_1866del
|
p.Ala618_Arg622del
|
- | 3.5 |
|
B | |
| 22980 | chrX | 41347397 | A | G |
c.1855A>G
|
p.Ser619Gly
|
- | 3.0 |
|
B | |
| 6937 | chrX | 41347648 | G | A |
c.1918G>A
|
p.Gly640Arg
|
3.5 |
|
B | ||
| 19824 | chrX | 41347846 | AT | A |
c.*137del
|
-
|
3.0 |
|
B |