Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14366 | chrX | 20138601 | C | T |
c.38G>A
|
p.Arg13His
|
- | 3.0 |
|
B | |
| 26981 | chrX | 20138602 | G | A |
c.37C>T
|
p.Arg13Cys
|
3.0 |
|
B | ||
| 21353 | chrX | 20138613 | C | G |
c.26G>C
|
p.Gly9Ala
|
- | 3.0 |
|
B | |
| 11633 | chrX | 20138616 | C | G |
c.23G>C
|
p.Gly8Ala
|
- | 3.0 |
|
B | |
| 31519 | chrX | 20138619 | T | C |
c.20A>G
|
p.Lys7Arg
|
- | 3.0 |
|
B | |
| 19855 | chrX | 20138632 | T | TA |
c.17-11dup
|
-
|
3.0 |
|
B | ||
| 20161 | chrX | 20141623 | A | G |
c.16+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 598 | chrX | 20141625 | C | G |
c.16G>C
|
p.Gly6Arg
|
- | 3.0 |
|
B | |
| 13902 | chrX | 20141625 | C | T |
c.16G>A
|
p.Gly6Ser
|
3.0 |
|
B | ||
| 33663 | chrX | 20141629 | A | T |
c.12T>A
|
p.Asn4Lys
|
- | 3.0 |
|
B | |
| 35632 | chrX | 20141632 | C | A |
c.9G>T
|
p.Lys3Asn
|
- | 3.0 |
|
B | |
| 27965 | chrX | 20141636 | G | T |
c.5C>A
|
p.Pro2His
|
- | 3.0 |
|
B | |
| 4793 | chrX | 23392569 | T | A |
c.1051T>A
|
p.Trp351Arg
|
- | 3.0 |
|
B | |
| 4794 | chrX | 23392576 | A | T |
c.1058A>T
|
p.Lys353Ile
|
- | 3.0 |
|
B | |
| 4795 | chrX | 23393056 | C | T |
c.1538C>T
|
p.Ser513Phe
|
3.0 |
|
B | ||
| 3498 | chrX | 23785531 | G | A |
c.316G>A
|
p.Gly106Arg
|
- | 3.0 |
|
B | |
| 3499 | chrX | 23785532 | G | A |
c.317G>A
|
p.Gly106Glu
|
- | 3.0 |
|
B | |
| 3764 | chrX | 24364341 | TCCTGCTCTA | T |
c.1582_1590del
|
p.Pro528_Leu530del
|
- | 3.0 |
|
B | |
| 4107 | chrX | 24364372 | CTAG | C |
c.1613_1615del
|
p.Leu538_Ala539delinsPro
|
3.0 |
|
B | ||
| 4109 | chrX | 24364381 | G | C |
c.1621G>C
|
p.Ala541Pro
|
3.0 |
|
B |