Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9084 | chrX | 130015461 | C | T |
c.2689C>T
|
p.Pro897Ser
|
- | 3.0 |
|
B | |
| 5553 | chrX | 130015830 | G | A |
c.3058G>A
|
p.Glu1020Lys
|
- | 3.0 |
|
B | |
| 11856 | chrX | 130015879 | A | G |
c.3107A>G
|
p.Glu1036Gly
|
- | 3.0 |
|
B | |
| 25591 | chrX | 130015914 | C | T |
c.3142C>T
|
p.Arg1048Ter
|
- | 3.5 |
|
B | |
| 34871 | chrX | 130015967 | C | A |
c.3195C>A
|
p.Cys1065Ter
|
- | 3.5 |
|
B | |
| 31511 | chrX | 130016086 | G | A |
c.3314G>A
|
p.Trp1105Ter
|
- | 4.0 |
|
B | |
| 25540 | chrX | 130016136 | G | A |
c.3364G>A
|
p.Gly1122Ser
|
3.0 |
|
B | ||
| 17977 | chrX | 130016195 | GA | G |
c.3424del
|
p.Ser1142ValfsTer80
|
- | 4.0 |
|
B | |
| 19152 | chrX | 130021076 | G | T |
c.3533G>T
|
p.Gly1178Val
|
- | 3.0 |
|
B | |
| 32246 | chrX | 130021086 | G | T |
c.3543G>T
|
p.Lys1181Asn
|
- | 3.0 |
|
B | |
| 20828 | chrX | 130022975 | C | T |
c.3686C>T
|
p.Ser1229Phe
|
- | 3.0 |
|
B | |
| 21961 | chrX | 130025175 | C | T |
c.3874C>T
|
p.Arg1292Ter
|
- | 3.5 |
|
B | |
| 11898 | chrX | 130025301 | C | T |
c.4000C>T
|
p.Arg1334Trp
|
3.0 |
|
B | ||
| 25202 | chrX | 130025340 | A | G |
c.4039A>G
|
p.Thr1347Ala
|
- | 3.0 |
|
B | |
| 13647 | chrX | 130028637 | T | A |
c.4081T>A
|
p.Leu1361Ile
|
- | 3.0 |
|
B | |
| 7189 | chrX | 130034453 | A | T |
c.4306-2A>T
|
p.?
|
- | 3.5 |
|
B | |
| 12050 | chrX | 130034469 | G | A |
c.4320G>A
|
p.Trp1440Ter
|
- | 4.0 |
|
B | |
| 18202 | chrX | 130034489 | C | T |
c.4340C>T
|
p.Ser1447Phe
|
- | 3.0 |
|
B | |
| 14139 | chrX | 130034525 | C | T |
c.4376C>T
|
p.Pro1459Leu
|
3.0 |
|
B | ||
| 22801 | chrX | 130034640 | G | C |
c.4491G>C
|
p.Glu1497Asp
|
- | 3.0 |
|
B |