Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32255 | chrX | 47239352 | T | G |
c.288T>G
|
p.Asp96Glu
|
- | 3.0 |
|
B | |
| 34187 | chrX | 47239455 | C | A |
c.391C>A
|
p.His131Asn
|
- | 3.0 |
|
B | |
| 13249 | chrX | 47240393 | G | T |
c.624G>T
|
p.Leu208Phe
|
- | 3.0 |
|
B | |
| 31323 | chrX | 47240451 | G | A |
c.681+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 21132 | chrX | 47240596 | A | G |
c.691A>G
|
p.Met231Val
|
- | 3.0 |
|
B | |
| 25975 | chrX | 47241453 | G | A |
c.1020+3G>A
|
-
|
3.0 |
|
B | ||
| 18197 | chrX | 47241697 | C | T |
c.1177C>T
|
p.Gln393Ter
|
- | 3.0 |
|
B | |
| 21799 | chrX | 47242469 | A | G |
c.1435A>G
|
p.Ile479Val
|
- | 3.0 |
|
B | |
| 34120 | chrX | 47242475 | G | A |
c.1441G>A
|
p.Asp481Asn
|
- | 3.0 |
|
B | |
| 24630 | chrX | 47242496 | A | G |
c.1462A>G
|
p.Lys488Glu
|
- | 3.0 |
|
B | |
| 16010 | chrX | 47244844 | G | A |
c.2006G>A
|
p.Arg669Gln
|
3.0 |
|
B | ||
| 16474 | chrX | 47244909 | C | T |
c.2071C>T
|
p.Pro691Ser
|
3.0 |
|
B | ||
| 18794 | chrX | 47244910 | C | T |
c.2072C>T
|
p.Pro691Leu
|
- | 3.0 |
|
B | |
| 14500 | chrX | 47245500 | G | A |
c.2270+18G>A
|
-
|
- | 3.0 |
|
B | |
| 12412 | chrX | 47247064 | G | C |
c.2271-8G>C
|
-
|
1.5 |
|
B | ||
| 28132 | chrX | 47247152 | A | C |
c.2351A>C
|
p.His784Pro
|
- | 3.0 |
|
B | |
| 13312 | chrX | 47247823 | C | T |
c.2656C>T
|
p.Arg886Cys
|
3.0 |
|
B | ||
| 3471 | chrX | 47448100 | C | T |
c.1670G>A
|
p.Gly557Glu
|
3.0 |
|
B | ||
| 760 | chrX | 47563298 | G | A |
c.169G>A
|
p.Asp57Asn
|
- | 3.0 |
|
B | |
| 2749 | chrX | 47563308 | T | G |
c.179T>G
|
p.Val60Gly
|
- | 3.0 |
|
B |