Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29307 | chrX | 71122488 | C | T |
c.1249-20C>T
|
-
|
- | 3.0 |
|
B | |
| 4422 | chrX | 71122518 | A | T |
c.1259A>T
|
p.Lys420Met
|
- | 3.0 |
|
B | |
| 24513 | chrX | 71122797 | C | A |
c.1408C>A
|
p.Arg470Ser
|
- | 3.0 |
|
B | |
| 33281 | chrX | 71123171 | G | A |
c.1562G>A
|
p.Arg521His
|
3.0 |
|
B | ||
| 29197 | chrX | 71123171 | G | C |
c.1562G>C
|
p.Arg521Pro
|
- | 3.0 |
|
B | |
| 28002 | chrX | 71123735 | C | T |
c.1744+15C>T
|
-
|
- | 3.0 |
|
B | |
| 8248 | chrX | 71124186 | T | A |
c.1772T>A
|
p.Val591Glu
|
- | 3.0 |
|
B | |
| 7687 | chrX | 71124800 | AGTTCCAGT | A |
c.2016_2023del
|
p.Ser673LeufsTer2
|
- | 3.5 |
|
B | |
| 18863 | chrX | 71124969 | C | G |
c.2056-7C>G
|
-
|
3.0 |
|
B | ||
| 24632 | chrX | 71125058 | C | T |
c.2138C>T
|
p.Pro713Leu
|
- | 3.0 |
|
B | |
| 15692 | chrX | 71125099 | G | A |
c.2179G>A
|
p.Asp727Asn
|
2.5 |
|
B | ||
| 2328 | chrX | 71125494 | T | A |
c.2370T>A
|
p.Thr790=
|
- | 3.0 |
|
B | |
| 35519 | chrX | 71125675 | C | T |
c.2384C>T
|
p.Pro795Leu
|
2.5 |
|
B | ||
| 20160 | chrX | 71126116 | C | T |
c.2503C>T
|
p.His835Tyr
|
- | 3.0 |
|
B | |
| 3784 | chrX | 71126351 | A | G |
c.2552A>G
|
p.Asn851Ser
|
- | 3.0 |
|
B | |
| 32210 | chrX | 71127052 | C | G |
c.2769C>G
|
p.Cys923Trp
|
- | 3.0 |
|
B | |
| 18199 | chrX | 71127146 | C | T |
c.2849+14C>T
|
-
|
2.0 |
|
B | ||
| 4938 | chrX | 71127391 | C | T |
c.2905C>T
|
p.Arg969Cys
|
- | 3.0 |
|
B | |
| 15222 | chrX | 71127428 | C | G |
c.2942C>G
|
p.Ser981Cys
|
- | 3.0 |
|
B | |
| 15456 | chrX | 71127457 | G | C |
c.2971G>C
|
p.Glu991Gln
|
- | 3.0 |
|
B |