Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16864 | chrX | 38287378 | C | T |
c.1754-133G>A
|
-
|
- | 3.0 |
|
B | |
| 13612 | chrX | 38287625 | C | T |
c.1753+236G>A
|
-
|
- | 3.0 |
|
B | |
| 7636 | chrX | 38287849 | C | A |
c.1753+12G>T
|
-
|
- | 3.0 |
|
B | |
| 3039 | chrX | 38287854 | T | C |
c.1753+7A>G
|
-
|
- | 3.0 |
|
B | |
| 24490 | chrX | 38287870 | C | T |
c.1744G>A
|
p.Glu582Lys
|
- | 3.0 |
|
B | |
| 12891 | chrX | 38287996 | C | T |
c.1618G>A
|
p.Glu540Lys
|
- | 3.0 |
|
B | |
| 22028 | chrX | 38298970 | G | A |
c.1231C>T
|
p.Arg411Trp
|
3.0 |
|
B | ||
| 34157 | chrX | 38298979 | C | G |
c.1222G>C
|
p.Ala408Pro
|
- | 3.0 |
|
B | |
| 18012 | chrX | 38298990 | C | T |
c.1211G>A
|
p.Arg404Lys
|
- | 3.0 |
|
B | |
| 18698 | chrX | 38301269 | A | G |
c.1037T>C
|
p.Phe346Ser
|
- | 3.0 |
|
B | |
| 19278 | chrX | 38303823 | A | G |
c.934+812T>C
|
-
|
1.0 |
|
B | ||
| 24512 | chrX | 38304658 | T | C |
c.911A>G
|
p.Glu304Gly
|
- | 3.0 |
|
B | |
| 19279 | chrX | 38310609 | A | C |
c.778+6T>G
|
-
|
- | 3.0 |
|
B | |
| 19280 | chrX | 38310611 | A | C |
c.778+4T>G
|
-
|
- | 3.0 |
|
B | |
| 14554 | chrX | 38310618 | T | G |
c.775A>C
|
p.Thr259Pro
|
- | 3.0 |
|
B | |
| 3820 | chrX | 38310697 | GTGATTGCCCAGGAGC | G |
c.681_695del
|
p.Gln227_Asn231del
|
- | 3.0 |
|
B | |
| 22542 | chrX | 38310757 | A | T |
c.636T>A
|
p.Tyr212Ter
|
- | 3.0 |
|
B | |
| 34434 | chrX | 38310783 | G | A |
c.620-10C>T
|
-
|
- | 3.0 |
|
B | |
| 16388 | chrX | 38317314 | A | C |
c.619+2T>G
|
p.?
|
- | 3.0 |
|
B | |
| 12308 | chrX | 38317357 | G | A |
c.578C>T
|
p.Ser193Phe
|
- | 3.0 |
|
B |