Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29534 | chrX | 14865243 | TA | T |
c.267del
|
p.Asn90ThrfsTer6
|
- | 3.0 |
|
B | |
| 8278 | chrX | 15790491 | G | C |
c.-5G>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 21871 | chrX | 15790508 | G | A |
c.13G>A
-
|
p.Glu5Lys
-
|
- | 3.0 |
|
B | |
| 35039 | chrX | 15801408 | C | T |
c.203+1455C>T
|
-
|
3.0 |
|
B | ||
| 27067 | chrX | 15801452 | C | T |
c.203+1499C>T
|
-
|
4.0 |
|
B | ||
| 27429 | chrX | 15801459 | T | C |
c.203+1506T>C
|
-
|
3.0 |
|
B | ||
| 31571 | chrX | 15801467 | A | G |
c.203+1514A>G
|
-
|
3.0 |
|
B | ||
| 33467 | chrX | 15801489 | A | C |
c.203+1536A>C
|
-
|
3.0 |
|
B | ||
| 22236 | chrX | 15803749 | A | C |
c.265A>C
|
p.Lys89Gln
|
3.0 |
|
B | ||
| 947 | chrX | 15809314 | G | A |
c.553G>A
|
p.Asp185Asn
|
- | 3.0 |
|
B | |
| 3001 | chrX | 15815685 | G | C |
c.566G>C
|
p.Arg189Pro
|
- | 3.0 |
|
B | |
| 2118 | chrX | 15823016 | A | C |
c.1223A>C
-
|
p.His408Pro
-
|
- | 3.0 |
|
B | |
| 16468 | chrX | 15823071 | TAGGGACCGCAGC | T |
c.1291_1302del
-
|
p.Asp432_Arg435del
-
|
2.5 |
|
B | ||
| 27590 | chrX | 15823222 | C | T |
c.1429C>T
-
|
p.Gln477Ter
-
|
- | 4.0 |
|
B | |
| 4792 | chrX | 16689450 | C | T |
c.872G>A
|
p.Arg291Lys
|
- | 3.0 |
|
B | |
| 11225 | chrX | 16845943 | T | A |
-
c.1099-5A>T
|
-
-
|
- | 3.0 |
|
B | |
| 4562 | chrX | 17800593 | G | A |
c.1418C>T
|
p.Ser473Phe
|
- | 3.0 |
|
B | |
| 3469 | chrX | 18749929 | C | T |
c.373C>T
|
p.Leu125Phe
|
- | 3.0 |
|
B | |
| 31050 | chrX | 20138592 | TTAC | T |
c.44_46del
|
p.Gly15_Lys16delinsGlu
|
- | 3.0 |
|
B | |
| 2324 | chrX | 20138595 | C | A |
c.44G>T
|
p.Gly15Val
|
- | 3.0 |
|
B |