Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26400 | chrX | 64190429 | G | T |
c.2858C>A
|
p.Pro953Gln
|
- | 3.0 |
|
B | |
| 15375 | chrX | 64190474 | C | T |
c.2813G>A
|
p.Gly938Glu
|
- | 3.0 |
|
B | |
| 22983 | chrX | 64190501 | T | A |
c.2786A>T
|
p.Asp929Val
|
- | 3.0 |
|
B | |
| 8980 | chrX | 64190606 | C | T |
c.2681G>A
|
p.Arg894His
|
2.5 |
|
B | ||
| 16030 | chrX | 64190805 | A | T |
c.2482T>A
|
p.Phe828Ile
|
- | 3.0 |
|
B | |
| 15376 | chrX | 64190811 | G | A |
c.2476C>T
|
p.Pro826Ser
|
- | 3.0 |
|
B | |
| 12309 | chrX | 64190940 | A | T |
c.2347T>A
|
p.Phe783Ile
|
- | 3.0 |
|
B | |
| 18701 | chrX | 64191120 | GGAAGAGCT | G |
c.2159_2166del
|
p.Gln720ProfsTer3
|
- | 4.0 |
|
B | |
| 13499 | chrX | 64191132 | T | A |
c.2155A>T
|
p.Met719Leu
|
- | 3.0 |
|
B | |
| 8119 | chrX | 64191141 | T | C |
c.2146A>G
|
p.Thr716Ala
|
- | 3.0 |
|
B | |
| 22587 | chrX | 64191251 | C | T |
c.2036G>A
|
p.Arg679Gln
|
2.5 |
|
B | ||
| 3346 | chrX | 64191300 | C | G |
c.1987G>C
|
p.Val663Leu
|
3.0 |
|
B | ||
| 10867 | chrX | 64191324 | G | T |
c.1963C>A
|
p.Gln655Lys
|
- | 3.0 |
|
B | |
| 6734 | chrX | 64191366 | G | A |
c.1921C>T
|
p.Arg641Ter
|
- | 4.0 |
|
B | |
| 22423 | chrX | 64191387 | G | A |
c.1900C>T
|
p.Arg634Cys
|
2.5 |
|
B | ||
| 24631 | chrX | 64191390 | C | A |
c.1897G>T
|
p.Val633Phe
|
3.0 |
|
B | ||
| 23203 | chrX | 64191411 | G | A |
c.1876C>T
|
p.Arg626Ter
|
4.5 |
|
B | ||
| 34141 | chrX | 64191440 | C | A |
c.1847G>T
|
p.Trp616Leu
|
- | 3.0 |
|
B | |
| 11455 | chrX | 64191531 | G | A |
c.1756C>T
|
p.Arg586Ter
|
- | 4.0 |
|
B | |
| 22424 | chrX | 64191599 | G | A |
c.1688C>T
|
p.Thr563Ile
|
- | 3.0 |
|
B |