Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13796 | chrX | 120530155 | TAA | T |
c.2537_2538del
|
p.Leu846GlnfsTer21
|
- | 3.0 |
|
B | |
| 17015 | chrX | 120530194 | C | T |
c.2500G>A
|
p.Ala834Thr
|
- | 3.0 |
|
B | |
| 17915 | chrX | 120530215 | CTT | C |
c.2477_2478del
|
p.Gln826ArgfsTer7
|
- | 3.0 |
|
B | |
| 22800 | chrX | 120532405 | G | A |
c.2439+17C>T
|
-
|
- | 3.0 |
|
B | |
| 6596 | chrX | 120535814 | G | T |
c.2160+16C>A
|
-
|
- | 3.0 |
|
B | |
| 14764 | chrX | 120535838 | A | G |
c.2152T>C
|
p.Phe718Leu
|
- | 3.0 |
|
B | |
| 10594 | chrX | 120536926 | C | A |
c.2046+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 33511 | chrX | 120538705 | C | A |
c.1807G>T
|
p.Ala603Ser
|
- | 3.0 |
|
B | |
| 26237 | chrX | 120538758 | A | T |
c.1754T>A
|
p.Phe585Tyr
|
- | 3.0 |
|
B | |
| 553 | chrX | 120540437 | G | C |
c.1569C>G
|
p.Ile523Met
|
- | 3.0 |
|
B | |
| 23551 | chrX | 120541622 | G | A |
c.1423C>T
|
p.Gln475Ter
|
- | 3.0 |
|
B | |
| 4954 | chrX | 120541649 | G | A |
c.1396C>T
|
p.Arg466Ter
|
3.0 |
|
B | ||
| 25548 | chrX | 120541738 | T | C |
c.1325-18A>G
|
-
|
- | 3.0 |
|
B | |
| 21643 | chrX | 120543033 | C | T |
c.1257G>A
|
p.Gln419=
|
3.0 |
|
B | ||
| 14770 | chrX | 120543041 | GA | G |
c.1257-9del
|
-
|
1.5 |
|
B | ||
| 6855 | chrX | 120544161 | T | C |
c.1126A>G
|
p.Asn376Asp
|
- | 3.0 |
|
B | |
| 2609 | chrX | 120544185 | C | A |
c.1102G>T
|
p.Glu368Ter
|
- | 3.0 |
|
B | |
| 13074 | chrX | 120545526 | G | GA |
c.847-10dup
|
-
|
3.0 |
|
B | ||
| 5392 | chrX | 120546600 | C | T |
c.793G>A
|
p.Val265Ile
|
3.0 |
|
B | ||
| 35263 | chrX | 120560198 | A | G |
c.441T>C
|
p.Ser147=
|
- | 3.0 |
|
B |