Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15378 | chrX | 130013710 | C | T |
c.938C>T
|
p.Pro313Leu
|
- | 3.0 |
|
B | |
| 32142 | chrX | 130013727 | G | A |
c.955G>A
|
p.Ala319Thr
|
- | 3.0 |
|
B | |
| 5467 | chrX | 130013877 | AC | A |
c.1110del
|
p.Thr371ProfsTer47
|
- | 4.0 |
|
B | |
| 11416 | chrX | 130013952 | C | T |
c.1180C>T
|
p.Pro394Ser
|
3.0 |
|
B | ||
| 14041 | chrX | 130014007 | C | T |
c.1235C>T
|
p.Pro412Leu
|
3.0 |
|
B | ||
| 3942 | chrX | 130014018 | A | T |
c.1246A>T
|
p.Ser416Cys
|
- | 3.0 |
|
B | |
| 12355 | chrX | 130014236 | GT | G |
c.1465del
|
p.Cys489ValfsTer6
|
- | 4.0 |
|
B | |
| 1605 | chrX | 130014402 | G | C |
c.1630G>C
|
p.Val544Leu
|
- | 3.0 |
|
B | |
| 27895 | chrX | 130014511 | C | T |
c.1739C>T
|
p.Pro580Leu
|
- | 3.0 |
|
B | |
| 15379 | chrX | 130014843 | C | T |
c.2071C>T
|
p.Pro691Ser
|
- | 3.0 |
|
B | |
| 11418 | chrX | 130014844 | C | T |
c.2072C>T
|
p.Pro691Leu
|
- | 3.0 |
|
B | |
| 10068 | chrX | 130014889 | C | A |
c.2117C>A
|
p.Ser706Ter
|
- | 4.0 |
|
B | |
| 4303 | chrX | 130015066 | C | T |
c.2294C>T
|
p.Thr765Met
|
3.0 |
|
B | ||
| 19244 | chrX | 130015267 | G | A |
c.2495G>A
|
p.Gly832Asp
|
- | 3.5 |
|
B | |
| 22987 | chrX | 130015271 | G | A |
c.2499G>A
|
p.Trp833Ter
|
- | 4.0 |
|
B | |
| 8848 | chrX | 130015272 | T | G |
c.2500T>G
|
p.Ser834Ala
|
- | 3.0 |
|
B | |
| 4439 | chrX | 130015276 | C | T |
c.2504C>T
|
p.Pro835Leu
|
3.0 |
|
B | ||
| 25870 | chrX | 130015287 | G | A |
c.2515G>A
|
p.Ala839Thr
|
3.0 |
|
B | ||
| 14615 | chrX | 130015374 | G | C |
c.2602G>C
|
p.Glu868Gln
|
- | 3.0 |
|
B | |
| 34692 | chrX | 130015440 | C | T |
c.2668C>T
|
p.Arg890Trp
|
3.0 |
|
B |