Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28375 | chrX | 133753871 | T | A |
c.643A>T
|
p.Ile215Phe
|
- | 3.0 |
|
B | |
| 35376 | chrX | 133753880 | G | A |
c.634C>T
|
p.Pro212Ser
|
- | 3.0 |
|
B | |
| 22428 | chrX | 133754075 | C | T |
c.439G>A
|
p.Glu147Lys
|
- | 3.0 |
|
B | |
| 29203 | chrX | 133754088 | A | C |
c.426T>G
|
p.Phe142Leu
|
- | 3.0 |
|
B | |
| 9227 | chrX | 133754094 | T | G |
c.420A>C
|
p.Gln140His
|
- | 3.0 |
|
B | |
| 21568 | chrX | 133754155 | C | T |
c.359G>A
|
p.Arg120His
|
2.0 |
|
B | ||
| 11746 | chrX | 133754195 | A | G |
c.338-19T>C
|
-
|
3.0 |
|
B | ||
| 23677 | chrX | 133953086 | T | G |
c.301A>C
|
p.Lys101Gln
|
3.0 |
|
B | ||
| 3153 | chrX | 133953093 | C | T |
c.294G>A
|
p.Met98Ile
|
- | 3.0 |
|
B | |
| 27508 | chrX | 133953144 | G | T |
c.243C>A
|
p.Tyr81Ter
|
- | 3.0 |
|
B | |
| 10791 | chrX | 133953200 | G | A |
c.187C>T
|
p.Gln63Ter
|
- | 3.0 |
|
B | |
| 15380 | chrX | 133985262 | G | A |
c.175+13C>T
|
-
|
- | 3.0 |
|
B | |
| 23116 | chrX | 133985346 | C | T |
c.104G>A
|
p.Cys35Tyr
|
- | 3.0 |
|
B | |
| 28972 | chrX | 133985353 | C | T |
c.97G>A
|
p.Ala33Thr
|
- | 3.0 |
|
B | |
| 19245 | chrX | 134378015 | C | G |
c.149C>G
|
p.Ser50Cys
|
- | 3.0 |
|
B | |
| 8923 | chrX | 134413559 | C | T |
c.487C>T
|
p.Arg163Cys
|
2.5 |
|
B | ||
| 14508 | chrX | 134414999 | G | A |
c.730-17G>A
|
-
|
- | 3.5 |
|
B | |
| 33929 | chrX | 134415030 | C | CCT |
c.744_745insCT
|
p.Thr249LeufsTer31
|
- | 4.0 |
|
B | |
| 28843 | chrX | 134415174 | A | T |
c.834+54A>T
|
-
|
- | 3.0 |
|
B | |
| 20195 | chrX | 134417153 | C | A |
c.835-16C>A
|
-
|
2.0 |
|
B |