Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25689 | chrX | 40071648 | C | A |
c.3040G>T
|
p.Ala1014Ser
|
- | 3.0 |
|
B | |
| 13956 | chrX | 40071691 | C | G |
c.2998-1G>C
|
p.?
|
- | 4.5 |
|
B | |
| 24341 | chrX | 40072399 | C | A |
c.2947G>T
|
p.Glu983Ter
|
- | 4.0 |
|
B | |
| 636 | chrX | 40072447 | CG | C |
c.2898del
|
p.Ile966MetfsTer55
|
- | 4.0 |
|
B | |
| 16350 | chrX | 40072588 | C | T |
c.2758G>A
|
p.Asp920Asn
|
- | 3.0 |
|
B | |
| 10106 | chrX | 40072700 | ACT | A |
c.2644_2645del
|
p.Ser882CysfsTer34
|
- | 4.0 |
|
B | |
| 26244 | chrX | 40072896 | GT | G |
c.2449del
|
p.Thr817LeufsTer39
|
4.0 |
|
B | ||
| 8154 | chrX | 40072918 | G | A |
c.2428C>T
|
p.Arg810Ter
|
4.5 |
|
B | ||
| 14053 | chrX | 40073059 | G | A |
c.2287C>T
|
p.Arg763Trp
|
3.0 |
|
B | ||
| 31650 | chrX | 40073110 | T | A |
c.2236A>T
|
p.Arg746Ter
|
- | 4.0 |
|
B | |
| 35091 | chrX | 40073111 | CCT | C |
c.2233_2234del
|
p.Arg745GlufsTer6
|
- | 4.0 |
|
B | |
| 8091 | chrX | 40073141 | T | C |
c.2205A>G
|
p.Ile735Met
|
- | 3.0 |
|
B | |
| 1754 | chrX | 40073217 | C | T |
c.2129G>A
|
p.Arg710His
|
2.0 |
|
B | ||
| 17430 | chrX | 40073331 | G | A |
c.2015C>T
|
p.Ser672Phe
|
- | 3.0 |
|
B | |
| 33622 | chrX | 40073477 | T | A |
c.1869A>T
|
p.Glu623Asp
|
- | 3.0 |
|
B | |
| 33869 | chrX | 40073538 | GC | G |
c.1807del
|
p.Ala603ProfsTer66
|
- | 4.0 |
|
B | |
| 7971 | chrX | 40073566 | C | T |
c.1780G>A
|
p.Val594Ile
|
3.0 |
|
B | ||
| 14545 | chrX | 40073574 | G | A |
c.1772C>T
|
p.Thr591Ile
|
- | 3.0 |
|
B | |
| 11169 | chrX | 40073614 | C | T |
c.1732G>A
|
p.Ala578Thr
|
3.0 |
|
B | ||
| 1541 | chrX | 40073623 | TG | T |
c.1722del
|
p.Asn575MetfsTer14
|
- | 4.0 |
|
B |