Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17440 | chrX | 129515682 | C | T |
c.630+5G>A
|
-
|
- | 3.0 |
|
B | |
| 12586 | chrX | 129515698 | C | A |
c.619G>T
|
p.Ala207Ser
|
- | 3.0 |
|
B | |
| 32563 | chrX | 129515730 | G | A |
c.587C>T
|
p.Ser196Phe
|
- | 3.0 |
|
B | |
| 34272 | chrX | 129515910 | A | ATCT |
c.512_513insAGA
|
p.Phe171delinsLeuAsp
|
- | 3.0 |
|
B | |
| 7378 | chrX | 129516478 | C | T |
c.281G>A
|
p.Arg94Lys
|
3.0 |
|
B | ||
| 25869 | chrX | 129518341 | C | A |
c.261+20G>T
|
-
|
- | 3.0 |
|
B | |
| 11983 | chrX | 129518348 | A | C |
c.261+13T>G
|
-
|
- | 3.0 |
|
B | |
| 15377 | chrX | 129523222 | G | A |
c.149C>T
|
p.Thr50Met
|
- | 3.0 |
|
B | |
| 27709 | chrX | 129523289 | G | T |
c.82C>A
|
p.Gln28Lys
|
- | 3.0 |
|
B | |
| 31563 | chrX | 129523293 | G | A |
c.78C>T
|
p.Asp26=
|
- | 3.0 |
|
B | |
| 3766 | chrX | 129752302 | G | A |
c.974G>A
|
p.Gly325Glu
|
- | 3.0 |
|
B | |
| 7367 | chrX | 130005312 | G | T |
c.81G>T
|
p.Glu27Asp
|
- | 3.0 |
|
B | |
| 4226 | chrX | 130012943 | G | A |
c.178-7G>A
|
-
|
3.0 |
|
B | ||
| 20442 | chrX | 130012986 | CG | C |
c.220del
|
p.Ala74GlnfsTer42
|
4.0 |
|
B | ||
| 1951 | chrX | 130012995 | G | T |
c.223G>T
|
p.Asp75Tyr
|
- | 3.0 |
|
B | |
| 33974 | chrX | 130013133 | G | A |
c.361G>A
|
p.Gly121Arg
|
3.0 |
|
B | ||
| 4998 | chrX | 130013322 | C | T |
c.550C>T
|
p.Pro184Ser
|
3.0 |
|
B | ||
| 1360 | chrX | 130013363 | TC | T |
c.593del
|
p.Pro198LeufsTer55
|
- | 3.5 |
|
B | |
| 761 | chrX | 130013449 | C | T |
c.677C>T
|
p.Ser226Phe
|
- | 3.0 |
|
B | |
| 13723 | chrX | 130013476 | G | A |
c.704G>A
|
p.Gly235Glu
|
- | 3.0 |
|
B |