Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22511 | chrX | 40073634 | G | C |
c.1712C>G
|
p.Ser571Ter
|
4.0 |
|
B | ||
| 10065 | chrX | 40073728 | G | A |
c.1618C>T
|
p.Arg540Trp
|
- | 3.0 |
|
B | |
| 33611 | chrX | 40073759 | GT | G |
c.1586del
|
p.Asn529ThrfsTer60
|
- | 4.0 |
|
B | |
| 6796 | chrX | 40073805 | G | T |
c.1541C>A
|
p.Pro514Gln
|
- | 3.0 |
|
B | |
| 15756 | chrX | 40073824 | A | C |
c.1522T>G
|
p.Ser508Ala
|
- | 3.0 |
|
B | |
| 2823 | chrX | 40074114 | C | T |
c.1232G>A
|
p.Arg411Gln
|
3.0 |
|
B | ||
| 34271 | chrX | 40074150 | C | T |
c.1196G>A
|
p.Gly399Glu
|
- | 3.0 |
|
B | |
| 5464 | chrX | 40074206 | GCTAA | G |
c.1136_1139del
|
p.Val379AlafsTer62
|
4.5 |
|
B | ||
| 13156 | chrX | 40074256 | T | A |
c.1090A>T
|
p.Ile364Phe
|
- | 3.0 |
|
B | |
| 34374 | chrX | 40074288 | GT | G |
c.1057del
|
p.Thr353ProfsTer25
|
- | 4.0 |
|
B | |
| 4028 | chrX | 40074331 | G | A |
c.1015C>T
|
p.Pro339Ser
|
- | 3.0 |
|
B | |
| 5932 | chrX | 40074361 | TGTCCCCCGGCAGGCCACTG | T |
c.966_984del
|
p.Ser323GlnfsTer49
|
- | 4.0 |
|
B | |
| 35040 | chrX | 40074396 | G | C |
c.950C>G
|
p.Ser317Cys
|
- | 3.0 |
|
B | |
| 1890 | chrX | 40074499 | C | A |
c.847G>T
|
p.Ala283Ser
|
- | 3.0 |
|
B | |
| 28874 | chrX | 40074543 | G | A |
c.803C>T
|
p.Ser268Leu
|
- | 3.0 |
|
B | |
| 24464 | chrX | 40074692 | G | C |
c.654C>G
|
p.Tyr218Ter
|
- | 4.0 |
|
B | |
| 4006 | chrX | 40074734 | G | GTAGA |
c.608_611dup
|
p.Pro205LeufsTer9
|
- | 4.0 |
|
B | |
| 10107 | chrX | 40074815 | GCT | G |
c.529_530del
|
p.Ser177ProfsTer8
|
- | 4.0 |
|
B | |
| 714 | chrX | 40074889 | G | GC |
c.456dup
|
p.Pro153AlafsTer33
|
- | 4.0 |
|
B | |
| 29535 | chrX | 40074904 | T | G |
c.442A>C
|
p.Ile148Leu
|
- | 3.0 |
|
B |