Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5443 | chrX | 77636057 | C | G |
c.4558-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 15008 | chrX | 77652137 | G | A |
c.4534C>T
|
p.Arg1512Cys
|
- | 3.0 |
|
B | |
| 7001 | chrX | 77652163 | C | CG |
c.4507_4508insC
|
p.Arg1503ThrfsTer7
|
- | 4.0 |
|
B | |
| 17719 | chrX | 77652173 | C | T |
c.4498G>A
|
p.Glu1500Lys
|
3.0 |
|
B | ||
| 23174 | chrX | 77652215 | C | CT |
c.4455dup
|
p.Asp1486ArgfsTer2
|
- | 4.0 |
|
B | |
| 8764 | chrX | 77652230 | G | A |
c.4441C>T
|
p.Arg1481Trp
|
- | 3.0 |
|
B | |
| 3002 | chrX | 77652232 | A | G |
c.4439T>C
|
p.Ile1480Thr
|
- | 3.0 |
|
B | |
| 33362 | chrX | 77652341 | C | T |
c.4330G>A
|
p.Glu1444Lys
|
- | 3.0 |
|
B | |
| 25275 | chrX | 77654082 | T | C |
c.4317+16A>G
|
-
|
- | 3.0 |
|
B | |
| 5089 | chrX | 77654131 | A | C |
c.4284T>G
|
p.Ile1428Met
|
- | 3.0 |
|
B | |
| 23300 | chrX | 77654135 | C | T |
c.4280G>A
|
p.Arg1427His
|
3.0 |
|
B | ||
| 17021 | chrX | 77654137 | TCGCC | T |
c.4274_4277del
|
p.Arg1425AsnfsTer64
|
- | 4.0 |
|
B | |
| 17048 | chrX | 77654139 | G | A |
c.4276C>T
|
p.Arg1426Ter
|
4.5 |
|
B | ||
| 7519 | chrX | 77654141 | CT | C |
c.4273del
|
p.Arg1425GlyfsTer65
|
- | 4.0 |
|
B | |
| 7377 | chrX | 77654206 | G | A |
c.4215-6C>T
|
-
|
2.0 |
|
B | ||
| 9145 | chrX | 77656587 | G | T |
c.4187C>A
|
p.Ser1396Tyr
|
- | 3.0 |
|
B | |
| 145 | chrX | 77656655 | T | A |
c.4121-2A>T
|
p.?
|
- | 4.67 |
|
A | |
| 28133 | chrX | 77656664 | A | T |
c.4121-11T>A
|
-
|
2.5 |
|
B | ||
| 25260 | chrX | 77663431 | CTT | C |
c.4069_4070del
|
p.Lys1357AspfsTer4
|
- | 4.0 |
|
B | |
| 6849 | chrX | 77663478 | G | A |
c.4024C>T
|
p.Arg1342Trp
|
3.0 |
|
B |