Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31597 | chrX | 64193205 | C | T |
c.82G>A
|
p.Gly28Arg
|
- | 3.0 |
|
B | |
| 15691 | chrX | 65716841 | G | A |
c.36G>A
|
p.Met12Ile
|
- | 3.0 |
|
B | |
| 32979 | chrX | 65716902 | G | A |
c.96+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 12868 | chrX | 65729528 | C | T |
c.283C>T
|
p.Gln95Ter
|
- | 3.0 |
|
B | |
| 23250 | chrX | 65731129 | A | C |
c.490A>C
|
p.Asn164His
|
- | 3.0 |
|
B | |
| 29088 | chrX | 65731818 | C | G |
c.552-20C>G
|
-
|
- | 3.0 |
|
B | |
| 28842 | chrX | 65731841 | GGATGCTGTCCTGGAATATCTGAA | G |
c.559_581del
|
p.Ala187CysfsTer35
|
- | 3.0 |
|
B | |
| 32593 | chrX | 65731917 | A | G |
c.631A>G
|
p.Lys211Glu
|
- | 3.0 |
|
B | |
| 26165 | chrX | 65733278 | C | T |
c.793C>T
|
p.Pro265Ser
|
3.0 |
|
B | ||
| 26369 | chrX | 65735263 | C | G |
c.796-4C>G
|
-
|
- | 3.0 |
|
B | |
| 12411 | chrX | 65736865 | AAGG | A |
c.1036_1038del
|
p.Glu346del
|
3.0 |
|
B | ||
| 23374 | chrX | 65736920 | A | C |
c.1085A>C
|
p.Gln362Pro
|
- | 3.0 |
|
B | |
| 31075 | chrX | 65737175 | C | G |
c.1091-3C>G
|
-
|
- | 3.0 |
|
B | |
| 29259 | chrX | 65738579 | C | A |
c.1306C>A
|
p.Gln436Lys
|
- | 3.0 |
|
B | |
| 27894 | chrX | 65738950 | C | T |
c.1345-20C>T
|
-
|
- | 3.0 |
|
B | |
| 28367 | chrX | 65738965 | G | A |
c.1345-5G>A
|
-
|
- | 3.0 |
|
B | |
| 21049 | chrX | 65739108 | C | T |
c.1483C>T
|
p.Arg495Trp
|
3.0 |
|
B | ||
| 23640 | chrX | 65739147 | C | T |
c.1522C>T
|
p.Arg508Cys
|
- | 3.0 |
|
B | |
| 12585 | chrX | 65739175 | G | A |
c.1550G>A
|
p.Arg517His
|
3.0 |
|
B | ||
| 34661 | chrX | 65739186 | C | T |
c.1561C>T
|
p.His521Tyr
|
- | 3.0 |
|
B |