Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2327 | chrX | 67546203 | C | G |
c.1057C>G
|
p.Leu353Val
|
- | 3.0 |
|
B | |
| 35042 | chrX | 67546233 | G | T |
c.1087G>T
|
p.Asp363Tyr
|
- | 3.0 |
|
B | |
| 20041 | chrX | 67546271 | GC | G |
c.1130del
|
p.Pro377LeufsTer102
|
- | 3.0 |
|
B | |
| 13674 | chrX | 67546392 | G | T |
c.1246G>T
|
p.Gly416Cys
|
- | 3.0 |
|
B | |
| 3197 | chrX | 67546396 | C | T |
c.1250C>T
|
p.Ala417Val
|
3.0 |
|
B | ||
| 19357 | chrX | 67546452 | C | CA |
c.1307dup
|
p.His436GlnfsTer66
|
- | 3.0 |
|
B | |
| 3939 | chrX | 67546647 | G | T |
c.1501G>T
|
p.Asp501Tyr
|
- | 3.0 |
|
B | |
| 27659 | chrX | 67546777 | C | T |
c.1616+15C>T
|
-
|
3.0 |
|
B | ||
| 33147 | chrX | 67643242 | TTG | T |
c.1617-10_1617-9del
|
-
|
- | 3.0 |
|
B | |
| 4295 | chrX | 67643285 | C | T |
c.1646C>T
|
p.Pro549Leu
|
- | 3.0 |
|
B | |
| 4378 | chrX | 67686030 | G | A |
c.1789G>A
|
p.Ala597Thr
|
3.0 |
|
B | ||
| 7124 | chrX | 67686076 | G | A |
c.1835G>A
|
p.Cys612Tyr
|
- | 3.0 |
|
B | |
| 31520 | chrX | 67711383 | C | T |
c.1886-19C>T
|
-
|
- | 3.0 |
|
B | |
| 22216 | chrX | 67711387 | C | G |
c.1886-15C>G
|
-
|
- | 3.0 |
|
B | |
| 34242 | chrX | 67711420 | T | C |
c.1904T>C
|
p.Leu635Pro
|
- | 3.0 |
|
B | |
| 10534 | chrX | 67711420 | T | G |
c.1904T>G
|
p.Leu635Arg
|
- | 3.0 |
|
B | |
| 28624 | chrX | 67711464 | A | G |
c.1948A>G
|
p.Thr650Ala
|
3.0 |
|
B | ||
| 3815 | chrX | 67711497 | A | G |
c.1981A>G
|
p.Thr661Ala
|
- | 3.0 |
|
B | |
| 2799 | chrX | 67711621 | T | A |
c.2105T>A
|
p.Leu702His
|
4.0 |
|
B | ||
| 17621 | chrX | 67711681 | C | T |
c.2165C>T
|
p.Ala722Val
|
3.0 |
|
B |