Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8512 | chrX | 71132883 | T | C |
c.4454T>C
|
p.Val1485Ala
|
- | 3.0 |
|
B | |
| 8911 | chrX | 71132925 | T | C |
c.4496T>C
|
p.Leu1499Pro
|
- | 3.0 |
|
B | |
| 7455 | chrX | 71133132 | A | G |
c.4537A>G
|
p.Asn1513Asp
|
- | 3.0 |
|
B | |
| 20886 | chrX | 71134808 | A | T |
c.4823A>T
|
p.Glu1608Val
|
- | 3.0 |
|
B | |
| 5667 | chrX | 71135107 | C | A |
c.4879C>A
|
p.Arg1627Ser
|
- | 3.0 |
|
B | |
| 32090 | chrX | 71135213 | G | T |
c.4985G>T
|
p.Gly1662Val
|
- | 3.0 |
|
B | |
| 8700 | chrX | 71137175 | TCTCCTTTTCAGGTGGCC | T |
c.5552-8_5560del
|
p.?
|
- | 4.0 |
|
B | |
| 13893 | chrX | 71137187 | G | A |
c.5552G>A
|
p.Gly1851Asp
|
3.0 |
|
B | ||
| 15473 | chrX | 71137843 | C | A |
c.5944C>A
|
p.Pro1982Thr
|
- | 3.0 |
|
B | |
| 4423 | chrX | 71140682 | C | T |
c.6092C>T
-
|
p.Thr2031Ile
-
|
- | 3.0 |
|
B | |
| 2768 | chrX | 71140797 | ACAG | A |
c.6226_6228del
-
|
p.Gln2076del
-
|
2.0 |
|
B | ||
| 20988 | chrX | 71141223 | C | T |
c.6268-7C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 20483 | chrX | 71141301 | A | ACAGCAACACCAG |
c.6348_6359dup
-
|
p.His2116_Gln2119dup
-
|
1.5 |
|
B | ||
| 27817 | chrX | 71141347 | C | T |
c.6385C>T
-
|
p.Pro2129Ser
-
|
3.0 |
|
B | ||
| 22029 | chrX | 71141885 | C | A |
c.6411C>A
-
|
p.Phe2137Leu
-
|
- | 3.0 |
|
B | |
| 25430 | chrX | 71240981 | G | A |
c.4048C>T
|
p.Arg1350Cys
|
- | 3.0 |
|
B | |
| 15758 | chrX | 71241220 | A | C |
c.3920+7T>G
|
-
|
- | 3.0 |
|
B | |
| 27960 | chrX | 71241239 | T | C |
c.3908A>G
|
p.Tyr1303Cys
|
- | 3.0 |
|
B | |
| 35104 | chrX | 71241267 | G | A |
c.3880C>T
|
p.Arg1294Cys
|
3.0 |
|
B | ||
| 20119 | chrX | 71241281 | C | T |
c.3866G>A
|
p.Arg1289His
|
3.0 |
|
B |