Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28938 | chrX | 53217854 | G | A |
c.464C>T
|
p.Ser155Phe
|
- | 3.0 |
|
B | |
| 13554 | chrX | 53218404 | G | A |
c.229-6C>T
|
-
|
3.0 |
|
B | ||
| 7342 | chrX | 53220866 | GGGGGTAAACCT | G |
c.190_200del
|
p.Arg64ProfsTer7
|
- | 4.0 |
|
B | |
| 24148 | chrX | 53224757 | T | G |
c.133A>C
|
p.Lys45Gln
|
- | 3.0 |
|
B | |
| 9931 | chrX | 53224909 | C | A |
c.-20G>T
|
-
|
3.0 |
|
B | ||
| 16869 | chrX | 53381074 | G | A |
c.3451C>T
|
p.Pro1151Ser
|
- | 3.0 |
|
B | |
| 18700 | chrX | 53382273 | C | A |
c.3396G>T
|
p.Glu1132Asp
|
- | 3.0 |
|
B | |
| 21080 | chrX | 53382301 | C | T |
c.3368G>A
|
p.Arg1123Gln
|
3.0 |
|
B | ||
| 28226 | chrX | 53382359 | C | T |
c.3310G>A
|
p.Glu1104Lys
|
- | 3.0 |
|
B | |
| 16459 | chrX | 53382613 | C | T |
c.3178G>A
|
p.Glu1060Lys
|
3.0 |
|
B | ||
| 643 | chrX | 53383172 | G | A |
c.3055C>T
|
p.Arg1019Cys
|
- | 3.0 |
|
B | |
| 21720 | chrX | 53383236 | T | G |
c.2991A>C
|
p.Glu997Asp
|
- | 3.0 |
|
B | |
| 12047 | chrX | 53396233 | C | G |
c.2856G>C
|
p.Gln952His
|
- | 3.0 |
|
B | |
| 13231 | chrX | 53396496 | C | T |
c.2684G>A
|
p.Arg895His
|
3.0 |
|
B | ||
| 8279 | chrX | 53396611 | G | T |
c.2569C>A
|
p.Gln857Lys
|
- | 3.0 |
|
B | |
| 33925 | chrX | 53399686 | T | A |
c.2465A>T
|
p.Asp822Val
|
- | 3.0 |
|
B | |
| 5370 | chrX | 53399696 | T | G |
c.2455A>C
|
p.Ile819Leu
|
- | 3.0 |
|
B | |
| 8952 | chrX | 53403587 | T | C |
c.2399A>G
|
p.Gln800Arg
|
- | 3.0 |
|
B | |
| 25018 | chrX | 53405351 | A | C |
c.1952T>G
|
p.Val651Gly
|
- | 3.0 |
|
B | |
| 20192 | chrX | 53405950 | G | A |
c.1552C>T
|
p.Arg518Cys
|
3.0 |
|
B |