Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18250 | chrX | 154773161 | C | G |
c.1067C>G
|
p.Ser356Cys
|
- | 3.0 |
|
B | |
| 21569 | chrX | 154774688 | G | T |
c.1242G>T
-
|
p.Gln414His
-
|
- | 3.0 |
|
B | |
| 30373 | chrX | 154775244 | G | A |
c.1309G>A
-
|
p.Val437Ile
-
|
3.0 |
|
B | ||
| 34678 | chrX | 154779247 | T | G |
-
c.1331A>C
|
-
p.Lys444Thr
|
- | 3.0 |
|
B | |
| 7579 | chrX | 154929414 | T | G |
c.4376A>C
|
p.Lys1459Thr
|
- | 3.0 |
|
B | |
| 3767 | chrX | 154930152 | A | AT |
c.3637dup
|
p.Ile1213AsnfsTer28
|
3.0 |
|
B | ||
| 30033 | chrY | 2979559 | C | T |
c.1972C>T
|
p.His658Tyr
|
- | 3.0 |
|
B | |
| 8240 | chrY | 2979648 | A | T |
c.2061A>T
|
p.Gln687His
|
- | 3.0 |
|
B | |
| 20444 | chrY | 6866081 | G | GA |
c.574-4dup
|
-
|
3.0 |
|
B | ||
| 15725 | chrY | 6868321 | G | A |
c.289C>T
|
p.Arg97Cys
|
3.0 |
|
B | ||
| 2533 | chrY | 6870058 | T | A |
c.55-5A>T
|
-
|
- | 3.0 |
|
B | |
| 19833 | chrY | 9357915 | G | A |
c.73G>A
|
p.Ala25Thr
|
- | 3.0 |
|
B | |
| 31387 | chrY | 9357947 | G | C |
c.105G>C
|
p.Lys35Asn
|
- | 3.0 |
|
B | |
| 8230 | chrY | 9358030 | C | T |
c.188C>T
|
p.Ala63Val
|
- | 3.0 |
|
B | |
| 31986 | chrY | 9358077 | G | T |
c.235G>T
|
p.Glu79Ter
|
- | 3.0 |
|
B | |
| 611 | chrY | 9400024 | A | G |
c.722A>G
|
p.Tyr241Cys
|
- | 3.0 |
|
B | |
| 24224 | chrY | 9400036 | C | T |
c.734C>T
|
p.Ala245Val
|
3.0 |
|
B | ||
| 5862 | chrY | 12722128 | T | G |
c.266T>G
|
p.Val89Gly
|
- | 3.0 |
|
B | |
| 2949 | chrY | 12725142 | C | T |
c.355C>T
|
p.Arg119Cys
|
3.0 |
|
B | ||
| 5509 | chrY | 12735627 | C | A |
c.673C>A
|
p.Leu225Ile
|
- | 3.0 |
|
B |