Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22114 | chrX | 71101289 | GTCAGCAGGAGAAGGGTGCTTCTCCA | G |
c.1060_1084del
-
|
p.Ser354AlafsTer22
-
|
- | 3.0 |
|
B | |
| 29171 | chrX | 71101336 | T | G |
c.1106T>G
-
|
p.Leu369Arg
-
|
- | 3.0 |
|
B | |
| 28716 | chrX | 71101585 | C | T |
c.1355C>T
-
|
p.Pro452Leu
-
|
- | 3.0 |
|
B | |
| 24079 | chrX | 71118819 | C | T |
c.65C>T
|
p.Pro22Leu
|
- | 3.0 |
|
B | |
| 27490 | chrX | 71118850 | G | A |
c.96G>A
|
p.Lys32=
|
- | 2.0 |
|
B | |
| 23779 | chrX | 71118851 | G | A |
c.97G>A
|
p.Glu33Lys
|
3.0 |
|
B | ||
| 13892 | chrX | 71118852 | A | G |
c.98A>G
|
p.Glu33Gly
|
- | 3.0 |
|
B | |
| 11939 | chrX | 71119371 | AGGATGAACTGAC | A |
c.101_112del
|
p.Asp34_Thr37del
|
- | 3.5 |
|
B | |
| 28977 | chrX | 71119380 | T | G |
c.107T>G
|
p.Leu36Arg
|
4.0 |
|
B | ||
| 31424 | chrX | 71119388 | TTGAATG | T |
c.117_122del
|
p.Asn40_Val41del
|
3.0 |
|
B | ||
| 7553 | chrX | 71119395 | T | G |
c.122T>G
|
p.Val41Gly
|
- | 3.0 |
|
B | |
| 6980 | chrX | 71119403 | G | A |
c.130G>A
|
p.Gly44Ser
|
4.0 |
|
B | ||
| 32223 | chrX | 71119403 | G | T |
c.130G>T
|
p.Gly44Cys
|
3.0 |
|
B | ||
| 169 | chrX | 71119404 | G | A |
c.131G>A
|
p.Gly44Asp
|
4.0 |
|
A | ||
| 3940 | chrX | 71119725 | C | T |
c.244C>T
|
p.Arg82Cys
|
3.0 |
|
B | ||
| 22609 | chrX | 71121109 | G | A |
c.692G>A
|
p.Arg231Gln
|
2.5 |
|
B | ||
| 11014 | chrX | 71121319 | A | C |
c.736-8A>C
|
-
|
1.0 |
|
B | ||
| 1481 | chrX | 71121431 | TCTCCGAGTAAGG | T |
c.843_846+8del
|
p.?
|
- | 3.5 |
|
B | |
| 13011 | chrX | 71121830 | G | A |
c.1101+14G>A
|
-
|
2.5 |
|
B | ||
| 29228 | chrX | 71122269 | G | A |
c.1171G>A
|
p.Gly391Ser
|
- | 3.0 |
|
B |