Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23213 | chrX | 71241297 | C | G |
c.3850G>C
|
p.Glu1284Gln
|
- | 3.0 |
|
B | |
| 22425 | chrX | 71242157 | G | A |
c.3802+13C>T
|
-
|
2.5 |
|
B | ||
| 2880 | chrX | 71242320 | T | TA |
c.3651dup
|
p.Lys1218Ter
|
- | 4.0 |
|
B | |
| 32244 | chrX | 71242368 | C | A |
c.3604G>T
|
p.Val1202Phe
|
- | 3.0 |
|
B | |
| 34123 | chrX | 71242383 | A | G |
c.3589T>C
|
p.Cys1197Arg
|
- | 3.0 |
|
B | |
| 24465 | chrX | 71242392 | G | T |
c.3580C>A
|
p.Leu1194Ile
|
- | 3.0 |
|
B | |
| 35559 | chrX | 71242438 | G | A |
c.3548-14C>T
|
-
|
3.0 |
|
B | ||
| 18702 | chrX | 71242973 | T | A |
c.3544A>T
|
p.Asn1182Tyr
|
- | 3.0 |
|
B | |
| 21898 | chrX | 71243047 | G | A |
c.3470C>T
|
p.Thr1157Met
|
3.0 |
|
B | ||
| 33187 | chrX | 71243087 | G | T |
c.3433-3C>A
|
-
|
- | 3.0 |
|
B | |
| 30945 | chrX | 71244292 | A | C |
c.3280+10T>G
|
-
|
3.0 |
|
B | ||
| 34158 | chrX | 71244311 | G | A |
c.3271C>T
|
p.Arg1091Cys
|
3.0 |
|
B | ||
| 25961 | chrX | 71244388 | G | A |
c.3194C>T
|
p.Ser1065Leu
|
- | 3.0 |
|
B | |
| 6697 | chrX | 71244401 | C | T |
c.3181G>A
|
p.Gly1061Arg
|
3.0 |
|
B | ||
| 32529 | chrX | 71244446 | C | G |
c.3136G>C
|
p.Glu1046Gln
|
- | 3.0 |
|
B | |
| 17948 | chrX | 71245432 | C | T |
c.2914G>A
|
p.Gly972Arg
|
- | 3.0 |
|
B | |
| 26742 | chrX | 71246640 | G | C |
c.2367C>G
|
p.Asn789Lys
|
1.5 |
|
B | ||
| 29063 | chrX | 71247327 | C | A |
c.2314+18G>T
|
-
|
3.0 |
|
B | ||
| 9001 | chrX | 71247452 | C | T |
c.2207G>A
|
p.Arg736His
|
- | 3.0 |
|
B | |
| 13464 | chrX | 71247877 | T | G |
c.2005A>C
|
p.Thr669Pro
|
- | 3.0 |
|
B |