Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7137 | chrX | 48688669 | C | T |
c.941C>T
|
p.Pro314Leu
|
2.5 |
|
B | ||
| 26309 | chrX | 48688689 | C | T |
c.961C>T
|
p.Arg321Ter
|
3.0 |
|
B | ||
| 20779 | chrX | 48688690 | G | A |
c.962G>A
|
p.Arg321Gln
|
3.0 |
|
B | ||
| 13697 | chrX | 48688720 | T | C |
c.992T>C
|
p.Ile331Thr
|
- | 3.0 |
|
B | |
| 33032 | chrX | 48688744 | C | T |
c.1016C>T
|
p.Ser339Phe
|
- | 3.0 |
|
B | |
| 11727 | chrX | 48688824 | G | A |
c.1096G>A
|
p.Gly366Ser
|
- | 3.0 |
|
B | |
| 13795 | chrX | 48688857 | C | T |
c.1129C>T
|
p.Arg377Cys
|
3.0 |
|
B | ||
| 26368 | chrX | 48688864 | G | T |
c.1136G>T
|
p.Gly379Val
|
- | 3.0 |
|
B | |
| 33452 | chrX | 48688947 | G | T |
c.1219G>T
|
p.Gly407Trp
|
- | 3.0 |
|
B | |
| 9465 | chrX | 48691158 | A | G |
c.1505A>G
|
p.Asp502Gly
|
- | 3.0 |
|
B | |
| 29915 | chrX | 48791192 | C | A |
c.83C>A
|
p.Pro28Gln
|
- | 3.0 |
|
B | |
| 32635 | chrX | 48791251 | A | ACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCACTGGCCTACTACAGGGACGCTGAGGC |
c.145_205dup
|
p.Tyr69CysfsTer19
|
- | 4.0 |
|
B | |
| 32814 | chrX | 48791272 | G | A |
c.163G>A
|
p.Ala55Thr
|
2.0 |
|
B | ||
| 6770 | chrX | 48791913 | C | T |
c.290C>T
|
p.Ala97Val
|
- | 3.0 |
|
B | |
| 10762 | chrX | 48792071 | C | T |
c.448C>T
|
p.Pro150Ser
|
- | 3.0 |
|
B | |
| 11634 | chrX | 48792084 | C | A |
c.461C>A
|
p.Ser154Ter
|
- | 3.5 |
|
B | |
| 1294 | chrX | 48793213 | G | T |
c.786G>T
|
p.Gln262His
|
- | 3.0 |
|
B | |
| 15887 | chrX | 48793224 | C | G |
c.797C>G
|
p.Thr266Arg
|
- | 3.0 |
|
B | |
| 34791 | chrX | 48793301 | A | G |
c.870+4A>G
|
-
|
- | 3.0 |
|
B | |
| 24383 | chrX | 48793871 | C | T |
c.949C>T
|
p.Arg317Trp
|
3.0 |
|
B |