Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2727 | chrX | 38317413 | T | A |
c.522A>T
|
p.Leu174Phe
|
- | 3.0 |
|
B | |
| 31984 | chrX | 38317446 | C | A |
c.489G>T
|
p.Met163Ile
|
- | 3.0 |
|
B | |
| 12016 | chrX | 38318837 | G | A |
c.461C>T
|
p.Ala154Val
|
- | 3.0 |
|
B | |
| 7048 | chrX | 38321091 | T | TA |
c.248-3dup
|
-
|
- | 3.0 |
|
B | |
| 7376 | chrX | 38322945 | C | T |
c.155G>A
|
p.Gly52Glu
|
- | 3.0 |
|
B | |
| 29451 | chrX | 38327360 | TC | T |
c.7del
|
p.Glu3SerfsTer5
|
- | 3.0 |
|
B | |
| 33679 | chrX | 38352776 | A | G |
c.77+3A>G
|
-
|
- | 3.0 |
|
B | |
| 12413 | chrX | 38367350 | A | G |
c.137A>G
|
p.Lys46Arg
|
1.0 |
|
B | ||
| 35665 | chrX | 38381427 | C | T |
c.384C>T
|
p.Ala128=
|
- | 3.0 |
|
B | |
| 22421 | chrX | 38408754 | G | A |
c.676G>A
|
p.Asp226Asn
|
- | 3.0 |
|
B | |
| 25863 | chrX | 38411922 | G | A |
c.928G>A
|
p.Glu310Lys
|
- | 3.0 |
|
B | |
| 2834 | chrX | 38805564 | CT | C |
c.*79del
|
-
|
2.5 |
|
B | ||
| 19904 | chrX | 38805564 | CTT | C |
c.*78_*79del
|
-
|
3.0 |
|
B | ||
| 1545 | chrX | 40049975 | C | T |
-
|
-
|
- | 3.0 |
|
B | |
| 16958 | chrX | 40052113 | C | T |
c.5264G>A
|
p.Trp1755Ter
|
- | 3.5 |
|
B | |
| 948 | chrX | 40052183 | C | T |
c.5194G>A
|
p.Glu1732Lys
|
3.0 |
|
B | ||
| 19281 | chrX | 40052404 | C | A |
c.4977-4G>T
|
-
|
1.0 |
|
B | ||
| 34435 | chrX | 40052416 | G | A |
c.4977-16C>T
|
-
|
- | 3.0 |
|
B | |
| 30523 | chrX | 40053933 | C | A |
c.4929G>T
|
p.Glu1643Asp
|
- | 3.0 |
|
B | |
| 32125 | chrX | 40054005 | G | T |
c.4857C>A
|
p.Asn1619Lys
|
- | 3.0 |
|
B |