Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13766 | chrX | 108735972 | C | T |
c.373G>A
|
p.Ala125Thr
|
- | 3.0 |
|
B | |
| 8612 | chrX | 108735990 | G | A |
c.355C>T
|
p.Arg119Trp
|
- | 3.0 |
|
B | |
| 26743 | chrX | 108735994 | C | G |
c.351G>C
|
p.Lys117Asn
|
- | 3.0 |
|
B | |
| 13767 | chrX | 108736063 | G | A |
c.282C>T
|
p.Arg94=
|
- | 3.0 |
|
B | |
| 11601 | chrX | 108736165 | A | AT |
c.179_180insA
|
p.Gly61TrpfsTer44
|
- | 3.0 |
|
B | |
| 15288 | chrX | 108736170 | C | CTCTCCA |
c.174_175insTGGAGA
|
p.Thr58_Ala59insTrpArg
|
- | 3.0 |
|
B | |
| 26934 | chrX | 108736183 | CA | C |
c.161del
|
p.Met54SerfsTer94
|
- | 3.0 |
|
B | |
| 1999 | chrX | 108736235 | G | A |
c.110C>T
|
p.Ser37Leu
|
3.0 |
|
B | ||
| 16871 | chrX | 111123128 | G | A |
c.25G>A
|
p.Glu9Lys
|
- | 3.0 |
|
B | |
| 25868 | chrX | 111123198 | C | A |
c.95C>A
|
p.Ser32Tyr
|
- | 3.0 |
|
B | |
| 18464 | chrX | 111123277 | A | T |
c.174A>T
|
p.Lys58Asn
|
- | 3.0 |
|
B | |
| 8082 | chrX | 111123296 | G | A |
c.175+18G>A
|
-
|
3.0 |
|
B | ||
| 9309 | chrX | 111142095 | G | A |
c.176-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 28872 | chrX | 111142197 | G | GTAAGTAAGCTCCTTGTT |
c.276+3_276+19dup
|
-
|
- | 3.0 |
|
B | |
| 25900 | chrX | 111144927 | G | C |
c.276+2731G>C
|
-
|
- | 3.0 |
|
B | |
| 29591 | chrX | 111152393 | C | G |
c.431-17C>G
|
-
|
- | 3.0 |
|
B | |
| 2936 | chrX | 111152443 | C | A |
c.464C>A
|
p.Pro155His
|
- | 3.0 |
|
B | |
| 7094 | chrX | 111162916 | G | A |
c.470G>A
|
p.Ser157Asn
|
- | 3.0 |
|
B | |
| 6884 | chrX | 111163041 | A | G |
c.595A>G
|
p.Lys199Glu
|
- | 3.0 |
|
B | |
| 22484 | chrX | 111163043 | ATCAGTAAG | A |
c.600+1_600+8del
|
p.?
|
- | 3.0 |
|
B |