Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5479 | chrX | 67717484 | G | A |
c.2180G>A
|
p.Arg727His
|
3.0 |
|
B | ||
| 15529 | chrX | 67717529 | G | A |
c.2225G>A
|
p.Trp742Ter
|
- | 3.0 |
|
B | |
| 1444 | chrX | 67717562 | G | A |
c.2258G>A
|
p.Arg753Gln
|
3.5 |
|
B | ||
| 18348 | chrX | 67717606 | G | A |
c.2302G>A
|
p.Asp768Asn
|
- | 3.0 |
|
B | |
| 3864 | chrX | 67717621 | G | A |
c.2317G>A
|
p.Glu773Lys
|
- | 3.5 |
|
B | |
| 8440 | chrX | 67721853 | G | A |
c.2339G>A
|
p.Arg780Gln
|
3.0 |
|
B | ||
| 13513 | chrX | 67721853 | G | T |
c.2339G>T
|
p.Arg780Leu
|
- | 3.0 |
|
B | |
| 28655 | chrX | 67722812 | T | A |
c.2450-15T>A
|
-
|
- | 3.0 |
|
B | |
| 5975 | chrX | 67722858 | C | A |
c.2481C>A
|
p.Phe827Leu
|
3.0 |
|
B | ||
| 1320 | chrX | 67722875 | T | G |
c.2498T>G
|
p.Met833Arg
|
3.0 |
|
B | ||
| 2254 | chrX | 67722952 | CAGCTCACCA | C |
c.2581_2589del
|
p.Thr861_Leu863del
|
- | 3.0 |
|
B | |
| 17178 | chrX | 67722973 | T | C |
c.2596T>C
|
p.Ser866Pro
|
3.5 |
|
B | ||
| 12025 | chrX | 67723756 | C | T |
c.2678C>T
|
p.Pro893Leu
|
3.5 |
|
B | ||
| 7528 | chrX | 69505406 | C | T |
c.124C>T
|
p.Arg42Ter
|
3.0 |
|
B | ||
| 3473 | chrX | 71062868 | C | T |
c.247G>A
|
p.Glu83Lys
|
- | 3.0 |
|
B | |
| 17914 | chrX | 71096689 | TG | T |
c.166del
|
p.Glu56LysfsTer33
|
- | 3.0 |
|
B | |
| 31386 | chrX | 71096817 | C | A |
c.289C>A
|
p.Arg97Ser
|
- | 3.0 |
|
B | |
| 12923 | chrX | 71100852 | C | T |
c.622C>T
-
|
p.Arg208Cys
-
|
3.0 |
|
B | ||
| 32722 | chrX | 71100909 | A | G |
c.679A>G
-
|
p.Thr227Ala
-
|
- | 3.0 |
|
B | |
| 13784 | chrX | 71101089 | G | C |
c.859G>C
-
|
p.Ala287Pro
-
|
- | 3.0 |
|
B |