Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30212 | chrX | 130069589 | T | C |
c.898A>G
|
p.Ile300Val
|
- | 3.0 |
|
B | |
| 25136 | chrX | 130071056 | T | C |
c.793A>G
|
p.Met265Val
|
- | 3.0 |
|
B | |
| 18695 | chrX | 130071107 | ACACAG | A |
c.737_741del
|
p.Ala246ValfsTer12
|
- | 3.0 |
|
B | |
| 21092 | chrX | 130071175 | C | G |
c.674G>C
|
p.Cys225Ser
|
- | 3.0 |
|
B | |
| 12925 | chrX | 130071325 | G | A |
c.616+11C>T
|
-
|
- | 3.0 |
|
B | |
| 30213 | chrX | 130071427 | G | A |
c.533-8C>T
|
-
|
3.0 |
|
B | ||
| 17441 | chrX | 130074572 | G | A |
c.247+9C>T
|
-
|
- | 3.0 |
|
B | |
| 24190 | chrX | 130081237 | C | T |
c.75+19G>A
|
-
|
- | 3.0 |
|
B | |
| 20694 | chrX | 133536185 | G | A |
c.1682C>T
|
p.Pro561Leu
|
- | 3.0 |
|
B | |
| 33075 | chrX | 133596451 | C | T |
c.1562G>A
|
p.Arg521His
|
3.0 |
|
B | ||
| 30348 | chrX | 133596456 | C | G |
c.1557G>C
|
p.Gln519His
|
- | 3.0 |
|
B | |
| 4314 | chrX | 133596479 | C | T |
c.1534G>A
|
p.Gly512Arg
|
3.0 |
|
B | ||
| 3231 | chrX | 133661777 | C | A |
c.1366G>T
|
p.Glu456Ter
|
- | 3.0 |
|
B | |
| 21567 | chrX | 133661804 | G | A |
c.1339C>T
|
p.Leu447Phe
|
- | 3.0 |
|
B | |
| 7818 | chrX | 133692363 | G | A |
c.1292+6C>T
|
-
|
3.0 |
|
B | ||
| 30441 | chrX | 133699928 | A | T |
c.1133T>A
|
p.Val378Glu
|
- | 3.0 |
|
B | |
| 1315 | chrX | 133699995 | G | A |
c.1066C>T
|
p.Gln356Ter
|
- | 3.0 |
|
B | |
| 10113 | chrX | 133753643 | C | T |
c.871G>A
|
p.Glu291Lys
|
3.0 |
|
B | ||
| 11347 | chrX | 133753680 | G | T |
c.834C>A
|
p.Cys278Ter
|
- | 3.0 |
|
B | |
| 15004 | chrX | 133753796 | T | C |
c.718A>G
|
p.Ile240Val
|
- | 3.0 |
|
B |