Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18203 | chrX | 136780839 | C | T |
c.44G>A
|
p.Gly15Glu
|
- | 3.0 |
|
B | |
| 5764 | chrX | 136780845 | G | A |
c.38C>T
|
p.Ser13Phe
|
- | 3.0 |
|
B | |
| 19971 | chrX | 141003475 | TA | T |
c.142del
|
p.Met48Ter
|
3.0 |
|
B | ||
| 4565 | chrX | 142203498 | C | T |
c.490G>A
|
p.Glu164Lys
|
- | 3.0 |
|
B | |
| 10938 | chrX | 147912179 | G | T |
c.-1G>T
|
-
|
- | 3.0 |
|
B | |
| 33712 | chrX | 147912751 | C | G |
c.51+521C>G
|
-
|
- | 3.0 |
|
B | |
| 2109 | chrX | 147921967 | C | T |
c.86C>T
|
p.Thr29Ile
|
- | 3.0 |
|
B | |
| 27452 | chrX | 147925643 | C | T |
c.198+10C>T
|
-
|
3.0 |
|
B | ||
| 9755 | chrX | 147928387 | G | C |
c.264G>C
|
p.Lys88Asn
|
- | 3.0 |
|
B | |
| 28425 | chrX | 147928768 | A | T |
c.380A>T
|
p.His127Leu
|
- | 3.0 |
|
B | |
| 31795 | chrX | 147930027 | C | A |
c.499C>A
|
p.Gln167Lys
|
- | 3.0 |
|
B | |
| 6290 | chrX | 147930133 | C | G |
c.519C>G
|
p.Ile173Met
|
- | 3.0 |
|
B | |
| 18039 | chrX | 147930181 | T | A |
c.567T>A
|
p.Phe189Leu
|
- | 3.0 |
|
B | |
| 5676 | chrX | 147932595 | G | A |
c.801G>A
|
p.Glu267=
|
- | 3.0 |
|
B | |
| 29738 | chrX | 147932595 | G | T |
c.801G>T
|
p.Glu267Asp
|
- | 3.0 |
|
B | |
| 16052 | chrX | 147932691 | G | A |
c.808G>A
|
p.Asp270Asn
|
- | 3.0 |
|
B | |
| 13865 | chrX | 147936567 | G | T |
c.944G>T
|
p.Arg315Met
|
- | 3.0 |
|
B | |
| 33453 | chrX | 147938136 | A | G |
c.1163A>G
|
p.Gln388Arg
|
- | 3.0 |
|
B | |
| 30749 | chrX | 147938144 | G | A |
c.1171G>A
|
p.Glu391Lys
|
- | 3.0 |
|
B | |
| 7473 | chrX | 147943174 | A | T |
c.1319A>T
|
p.Gln440Leu
|
- | 3.0 |
|
B |