Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32116 | chrX | 124063948 | A | G |
c.1922A>G
|
p.Asn641Ser
|
- | 3.0 |
|
B | |
| 1745 | chrX | 124064025 | C | T |
c.1999C>T
|
p.Arg667Trp
|
3.0 |
|
B | ||
| 21900 | chrX | 124064026 | G | A |
c.2000G>A
|
p.Arg667Gln
|
2.5 |
|
B | ||
| 33630 | chrX | 124065857 | G | C |
c.2026-19G>C
|
-
|
- | 3.0 |
|
B | |
| 1482 | chrX | 124065894 | G | GGT |
c.2044_2045insGT
|
p.Asp682GlyfsTer11
|
- | 4.0 |
|
B | |
| 17993 | chrX | 124065906 | C | T |
c.2056C>T
|
p.Gln686Ter
|
- | 4.0 |
|
B | |
| 10153 | chrX | 124065918 | A | AC |
c.2069dup
|
p.Leu691IlefsTer9
|
- | 4.0 |
|
B | |
| 18909 | chrX | 124066271 | T | A |
c.2184+9T>A
|
-
|
- | 3.0 |
|
B | |
| 11971 | chrX | 124068641 | T | TA |
c.2344dup
|
p.Thr782AsnfsTer3
|
- | 4.0 |
|
B | |
| 2456 | chrX | 124068661 | G | A |
c.2358+5G>A
|
-
|
- | 3.5 |
|
B | |
| 22176 | chrX | 124071131 | T | TG |
c.2359-18_2359-17insG
|
-
|
- | 3.0 |
|
B | |
| 11982 | chrX | 124071199 | G | C |
c.2409G>C
|
p.Met803Ile
|
- | 3.0 |
|
B | |
| 11565 | chrX | 124071209 | C | A |
c.2419C>A
|
p.Arg807Ser
|
- | 3.0 |
|
B | |
| 3215 | chrX | 124071281 | G | T |
c.2491G>T
|
p.Asp831Tyr
|
3.0 |
|
B | ||
| 29382 | chrX | 124077973 | G | T |
c.2690G>T
|
p.Gly897Val
|
- | 3.0 |
|
B | |
| 3981 | chrX | 124081529 | G | T |
c.2924+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 14901 | chrX | 124083451 | T | TA |
c.2957dup
|
p.Asn986LysfsTer16
|
- | 4.0 |
|
B | |
| 13687 | chrX | 124083461 | G | T |
c.2965G>T
|
p.Gly989Trp
|
- | 3.0 |
|
B | |
| 34538 | chrX | 124083530 | C | T |
c.3034C>T
|
p.Arg1012Ter
|
4.5 |
|
B | ||
| 21251 | chrX | 124086533 | G | A |
c.3054-14G>A
|
-
|
2.0 |
|
B |