Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5798 | chrX | 77618899 | TTGAATTGGATTTATAAATCTATTCC | T |
c.5330_5354del
|
p.Arg1777LysfsTer11
|
- | 4.0 |
|
B | |
| 144 | chrX | 77618931 | C | A |
c.5323G>T
|
p.Glu1775Ter
|
- | 4.67 |
|
A | |
| 7729 | chrX | 77618983 | T | C |
c.5273-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 18467 | chrX | 77618984 | A | C |
c.5273-3T>G
|
-
|
- | 3.5 |
|
B | |
| 12924 | chrX | 77620429 | T | TA |
c.5237dup
|
p.Leu1746PhefsTer9
|
- | 4.0 |
|
B | |
| 2423 | chrX | 77620452 | G | A |
c.5215C>T
|
p.Arg1739Ter
|
- | 4.0 |
|
B | |
| 2774 | chrX | 77620463 | A | C |
c.5204T>G
|
p.Met1735Arg
|
- | 3.0 |
|
B | |
| 10463 | chrX | 77620511 | T | C |
c.5156A>G
|
p.Asp1719Gly
|
- | 3.0 |
|
B | |
| 25653 | chrX | 77620527 | C | T |
c.5140G>A
|
p.Asp1714Asn
|
- | 3.0 |
|
B | |
| 16473 | chrX | 77633591 | C | T |
c.4931G>A
|
p.Gly1644Glu
|
- | 3.0 |
|
B | |
| 10613 | chrX | 77633599 | CCACTTCTCAAATTCAT | C |
c.4907_4922del
|
p.Asn1636SerfsTer5
|
- | 4.0 |
|
B | |
| 27497 | chrX | 77633697 | G | A |
c.4825C>T
|
p.His1609Tyr
|
- | 4.0 |
|
B | |
| 30137 | chrX | 77633725 | A | T |
c.4810-13T>A
|
-
|
- | 3.5 |
|
B | |
| 31944 | chrX | 77634605 | T | C |
c.4798A>G
|
p.Lys1600Glu
|
- | 3.0 |
|
B | |
| 1546 | chrX | 77634650 | ATTTC | A |
c.4749_4752del
|
p.Lys1583AsnfsTer22
|
- | 4.0 |
|
B | |
| 12029 | chrX | 77634655 | T | C |
c.4748A>G
|
p.Lys1583Arg
|
- | 3.0 |
|
B | |
| 3030 | chrX | 77634658 | G | GT |
c.4744dup
|
p.Thr1582AsnfsTer19
|
- | 4.0 |
|
B | |
| 24001 | chrX | 77634665 | TCA | T |
c.4736_4737del
|
p.Val1579GlufsTer21
|
- | 4.0 |
|
B | |
| 27134 | chrX | 77634675 | ACAG | A |
c.4725_4727del
|
p.Cys1576del
|
- | 3.0 |
|
B | |
| 35139 | chrX | 77635947 | A | T |
c.4667T>A
|
p.Met1556Lys
|
- | 3.0 |
|
B |