Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28225 | chrX | 11664800 | A | G |
c.29T>C
|
p.Val10Ala
|
- | 3.0 |
|
B | |
| 30414 | chrX | 12975136 | C | A |
c.-49C>A
|
-
|
- | 3.0 |
|
B | |
| 4790 | chrX | 13760573 | G | T |
c.2113G>T
|
p.Gly705Cys
|
- | 3.0 |
|
B | |
| 4791 | chrX | 13760576 | A | C |
c.2116A>C
|
p.Thr706Pro
|
- | 3.0 |
|
B | |
| 14789 | chrX | 14843869 | C | A |
c.2278G>T
|
p.Ala760Ser
|
- | 3.0 |
|
B | |
| 24994 | chrX | 14843898 | C | A |
c.2249G>T
|
p.Gly750Val
|
3.0 |
|
B | ||
| 27123 | chrX | 14843981 | C | T |
c.2166G>A
|
p.Arg722=
|
- | 3.0 |
|
B | |
| 20189 | chrX | 14844578 | G | A |
c.2090C>T
|
p.Pro697Leu
|
2.0 |
|
B | ||
| 28780 | chrX | 14845074 | G | A |
c.1709C>T
|
p.Ser570Phe
|
- | 3.0 |
|
B | |
| 18697 | chrX | 14845228 | G | A |
c.1555C>T
|
p.Arg519Trp
|
- | 3.0 |
|
B | |
| 19032 | chrX | 14850560 | G | A |
c.1441C>T
|
p.Arg481Cys
|
3.0 |
|
B | ||
| 28204 | chrX | 14850571 | T | A |
c.1430A>T
|
p.Lys477Met
|
- | 3.0 |
|
B | |
| 19821 | chrX | 14850676 | TA | T |
c.1327-3del
|
-
|
1.0 |
|
B | ||
| 30209 | chrX | 14859165 | A | G |
c.1104+17T>C
|
-
|
- | 3.0 |
|
B | |
| 31179 | chrX | 14859183 | G | A |
c.1103C>T
|
p.Ser368Leu
|
2.5 |
|
B | ||
| 18195 | chrX | 14859243 | G | A |
c.1043C>T
|
p.Ser348Phe
|
- | 3.0 |
|
B | |
| 18196 | chrX | 14864575 | C | T |
c.936G>A
|
p.Trp312Ter
|
- | 3.0 |
|
B | |
| 32686 | chrX | 14864811 | T | C |
c.700A>G
|
p.Ser234Gly
|
3.0 |
|
B | ||
| 31176 | chrX | 14865032 | A | G |
c.479T>C
|
p.Val160Ala
|
- | 3.0 |
|
B | |
| 21432 | chrX | 14865050 | G | C |
c.461C>G
|
p.Ser154Cys
|
- | 3.0 |
|
B |