Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22031 | chrX | 129487012 | A | G |
c.2217+6T>C
|
-
|
- | 3.0 |
|
B | |
| 25337 | chrX | 129490147 | G | A |
c.1861C>T
|
p.Arg621Cys
|
3.0 |
|
B | ||
| 18822 | chrX | 129490200 | A | G |
c.1816-8T>C
|
-
|
- | 3.0 |
|
B | |
| 18793 | chrX | 129490201 | AAG | A |
c.1816-11_1816-10del
|
-
|
- | 3.0 |
|
B | |
| 23350 | chrX | 129491993 | A | C |
c.1763T>G
|
p.Val588Gly
|
- | 3.0 |
|
B | |
| 34936 | chrX | 129493063 | C | T |
c.1639G>A
|
p.Glu547Lys
|
3.0 |
|
B | ||
| 10025 | chrX | 129496799 | C | G |
c.1577G>C
|
p.Gly526Ala
|
- | 3.0 |
|
B | |
| 8202 | chrX | 129496802 | C | T |
c.1574G>A
|
p.Arg525His
|
3.0 |
|
B | ||
| 10648 | chrX | 129497965 | G | A |
c.1384C>T
|
p.His462Tyr
|
- | 3.0 |
|
B | |
| 12224 | chrX | 129498016 | C | T |
c.1333G>A
|
p.Asp445Asn
|
- | 3.0 |
|
B | |
| 27544 | chrX | 129498082 | A | T |
c.1278-11T>A
|
-
|
- | 3.0 |
|
B | |
| 26085 | chrX | 129499775 | C | T |
c.1234G>A
|
p.Glu412Lys
|
- | 3.0 |
|
B | |
| 13203 | chrX | 129499820 | G | A |
c.1189C>T
|
p.Arg397Cys
|
3.0 |
|
B | ||
| 29816 | chrX | 129504751 | C | G |
c.1150G>C
|
p.Val384Leu
|
- | 3.0 |
|
B | |
| 7800 | chrX | 129506076 | T | G |
c.1098+4A>C
|
-
|
- | 3.0 |
|
B | |
| 11456 | chrX | 129506195 | C | T |
c.983G>A
|
p.Arg328His
|
- | 3.0 |
|
B | |
| 17627 | chrX | 129506224 | A | C |
c.967-13T>G
|
-
|
- | 3.0 |
|
B | |
| 20040 | chrX | 129507991 | G | A |
c.916C>T
|
p.Arg306Ter
|
3.5 |
|
B | ||
| 23934 | chrX | 129508089 | A | T |
c.818T>A
|
p.Phe273Tyr
|
- | 3.0 |
|
B | |
| 15445 | chrX | 129512002 | G | A |
c.631-19C>T
|
-
|
3.0 |
|
B |