Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15976 | chrX | 134417210 | T | G |
c.876T>G
|
p.Cys292Trp
|
- | 3.0 |
|
B | |
| 25871 | chrX | 134425194 | A | T |
c.969-7A>T
|
-
|
- | 3.0 |
|
B | |
| 14054 | chrX | 135546391 | AT | A |
c.359del
|
p.Leu120Ter
|
3.0 |
|
B | ||
| 3477 | chrX | 136044616 | AT | A |
c.1935del
|
p.Phe645LeufsTer24
|
- | 3.0 |
|
B | |
| 13159 | chrX | 136669472 | A | G |
c.2190+10T>C
|
-
|
- | 3.0 |
|
B | |
| 26310 | chrX | 136675034 | C | T |
c.2008G>A
|
p.Ala670Thr
|
3.0 |
|
B | ||
| 29758 | chrX | 136676668 | T | C |
c.1901A>G
|
p.Lys634Arg
|
- | 3.0 |
|
B | |
| 29011 | chrX | 136679598 | C | T |
c.1767G>A
|
p.Trp589Ter
|
- | 3.0 |
|
B | |
| 21644 | chrX | 136680766 | A | G |
c.1669T>C
|
p.Ser557Pro
|
3.0 |
|
B | ||
| 29271 | chrX | 136690621 | G | A |
c.1174C>T
|
p.Arg392Trp
|
3.0 |
|
B | ||
| 22588 | chrX | 136708655 | C | T |
c.923+20G>A
|
-
|
- | 3.0 |
|
B | |
| 26033 | chrX | 136708773 | G | GA |
c.828-4dup
|
-
|
3.0 |
|
B | ||
| 16654 | chrX | 136708773 | GA | G |
c.828-4del
|
-
|
3.0 |
|
B | ||
| 20196 | chrX | 136713376 | GA | G |
c.733-7del
|
-
|
3.0 |
|
B | ||
| 28853 | chrX | 136745227 | G | A |
c.455C>T
|
p.Thr152Ile
|
3.0 |
|
B | ||
| 6379 | chrX | 136745345 | G | A |
c.337C>T
|
p.Gln113Ter
|
- | 3.0 |
|
B | |
| 15428 | chrX | 136779402 | G | T |
c.249+12C>A
|
-
|
- | 3.0 |
|
B | |
| 28330 | chrX | 136779498 | C | T |
c.166-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 14296 | chrX | 136780771 | C | T |
c.112G>A
|
p.Gly38Arg
|
- | 3.0 |
|
B | |
| 27996 | chrX | 136780803 | G | A |
c.80C>T
|
p.Pro27Leu
|
3.0 |
|
B |