Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 143 | chrX | 124047461 | C | T |
c.775C>T
|
p.Arg259Ter
|
4.67 |
|
A | ||
| 13350 | chrX | 124049077 | C | T |
c.892C>T
|
p.Arg298Cys
|
- | 3.0 |
|
B | |
| 19826 | chrX | 124050165 | GT | G |
c.894-16del
|
-
|
- | 3.0 |
|
B | |
| 11015 | chrX | 124050177 | C | T |
c.894-9C>T
|
-
|
1.5 |
|
B | ||
| 8250 | chrX | 124050205 | C | T |
c.913C>T
|
p.Arg305Ter
|
- | 4.0 |
|
B | |
| 26912 | chrX | 124050272 | G | A |
c.980G>A
|
p.Ser327Asn
|
3.0 |
|
B | ||
| 10843 | chrX | 124051367 | C | A |
c.1169C>A
|
p.Ala390Glu
|
- | 3.0 |
|
B | |
| 5731 | chrX | 124056205 | C | A |
c.1274C>A
|
p.Ala425Glu
|
- | 3.0 |
|
B | |
| 5090 | chrX | 124057919 | G | A |
c.1358G>A
|
p.Arg453Lys
|
- | 3.0 |
|
B | |
| 900 | chrX | 124061811 | G | T |
c.1575G>T
|
p.Met525Ile
|
3.0 |
|
B | ||
| 26995 | chrX | 124061864 | C | A |
c.1628C>A
|
p.Thr543Lys
|
- | 3.0 |
|
B | |
| 22985 | chrX | 124062895 | C | T |
c.1639-7C>T
|
-
|
- | 3.0 |
|
B | |
| 26913 | chrX | 124062917 | G | A |
c.1654G>A
|
p.Glu552Lys
|
- | 3.0 |
|
B | |
| 33378 | chrX | 124062945 | CAA | C |
c.1686_1687del
|
p.Lys562AsnfsTer3
|
- | 4.0 |
|
B | |
| 20944 | chrX | 124062968 | G | A |
c.1705G>A
|
p.Val569Met
|
3.0 |
|
B | ||
| 616 | chrX | 124063157 | GC | G |
c.1775del
|
p.Pro592LeufsTer14
|
- | 4.0 |
|
B | |
| 27631 | chrX | 124063194 | C | T |
c.1810C>T
|
p.Arg604Ter
|
4.0 |
|
B | ||
| 3169 | chrX | 124063839 | A | G |
c.1822-9A>G
|
-
|
2.5 |
|
B | ||
| 2070 | chrX | 124063934 | C | T |
c.1908C>T
|
p.Tyr636=
|
2.5 |
|
B | ||
| 5916 | chrX | 124063943 | CTG | C |
c.1919_1920del
|
p.Cys640Ter
|
- | 4.0 |
|
B |