Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23986 | chrX | 1206560 | GTAGT | G |
c.218_221del
|
p.Asn73ThrfsTer13
|
- | 3.0 |
|
B | |
| 21166 | chrX | 1208866 | G | A |
c.122C>T
|
p.Thr41Ile
|
- | 3.0 |
|
B | |
| 6140 | chrX | 1212554 | A | C |
c.79+2T>G
|
p.?
|
- | 3.0 |
|
B | |
| 34726 | chrX | 1282754 | AT | A |
c.53del
|
p.Phe18SerfsTer3
|
- | 3.0 |
|
B | |
| 17947 | chrX | 1282777 | C | T |
c.74C>T
|
p.Ser25Leu
|
3.0 |
|
B | ||
| 13441 | chrX | 1285765 | C | T |
c.77-13C>T
|
-
|
- | 3.0 |
|
B | |
| 13349 | chrX | 1285808 | T | G |
c.107T>G
|
p.Leu36Arg
|
- | 3.0 |
|
B | |
| 34742 | chrX | 1287175 | T | C |
c.219+1255T>C
|
-
|
3.0 |
|
B | ||
| 31228 | chrX | 1287183 | C | T |
c.219+1263C>T
|
-
|
3.0 |
|
B | ||
| 26263 | chrX | 1287210 | C | G |
c.219+1290C>G
|
-
|
3.0 |
|
B | ||
| 19854 | chrX | 1288845 | GC | G |
c.436del
|
p.Arg146ValfsTer41
|
- | 3.0 |
|
B | |
| 12420 | chrX | 1288903 | CAT | C |
c.473+16_473+17del
|
-
|
1.0 |
|
B | ||
| 26741 | chrX | 1290393 | G | C |
c.530G>C
|
p.Gly177Ala
|
2.5 |
|
B | ||
| 16632 | chrX | 1290417 | G | A |
c.554G>A
|
p.Gly185Glu
|
- | 3.0 |
|
B | |
| 16918 | chrX | 1290428 | C | T |
c.565C>T
|
p.Arg189Cys
|
3.0 |
|
B | ||
| 13255 | chrX | 1290431 | A | C |
c.568A>C
|
p.Asn190His
|
- | 3.0 |
|
B | |
| 28152 | chrX | 1290449 | G | A |
c.586G>A
|
p.Gly196Arg
|
3.0 |
|
B | ||
| 26164 | chrX | 1290473 | C | T |
c.610C>T
|
p.Gln204Ter
|
3.0 |
|
B | ||
| 30931 | chrX | 1294330 | C | T |
c.649C>T
|
p.Arg217Ter
|
3.0 |
|
B | ||
| 16066 | chrX | 1294396 | C | A |
c.715C>A
|
p.Gln239Lys
|
- | 3.0 |
|
B |