Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1004 | chrX | 41342819 | C | G |
c.526C>G
|
p.Pro176Ala
|
- | 3.0 |
|
B | |
| 12854 | chrX | 41343735 | A | G |
c.680-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 10493 | chrX | 41343749 | C | T |
c.692C>T
|
p.Thr231Ile
|
- | 3.0 |
|
B | |
| 17820 | chrX | 41344028 | A | T |
c.766-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 32198 | chrX | 41344036 | G | A |
c.772G>A
|
p.Gly258Arg
|
- | 3.5 |
|
B | |
| 16054 | chrX | 41344051 | C | T |
c.787C>T
|
p.Arg263Cys
|
3.0 |
|
B | ||
| 8003 | chrX | 41344275 | T | G |
c.901T>G
|
p.Tyr301Asp
|
- | 3.0 |
|
B | |
| 165 | chrX | 41344305 | C | T |
c.931C>T
|
p.Arg311Ter
|
4.67 |
|
A | ||
| 23827 | chrX | 41344339 | C | T |
c.965C>T
|
p.Ala322Val
|
- | 4.0 |
|
B | |
| 8229 | chrX | 41344347 | G | A |
c.973G>A
|
p.Gly325Arg
|
- | 3.0 |
|
B | |
| 2531 | chrX | 41344351 | G | T |
c.977G>T
|
p.Arg326Leu
|
- | 3.0 |
|
B | |
| 30769 | chrX | 41344359 | G | A |
c.985G>A
|
p.Asp329Asn
|
3.0 |
|
B | ||
| 21089 | chrX | 41344564 | G | A |
c.1025+165G>A
|
-
|
3.0 |
|
B | ||
| 26135 | chrX | 41345179 | G | C |
c.1026-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 35225 | chrX | 41345193 | G | C |
c.1039G>C
|
p.Asp347His
|
- | 3.0 |
|
B | |
| 3206 | chrX | 41345202 | G | T |
c.1048G>T
|
p.Asp350Tyr
|
- | 3.0 |
|
B | |
| 23377 | chrX | 41345204 | TC | T |
c.1051del
|
p.Arg351GlyfsTer14
|
- | 4.0 |
|
B | |
| 33836 | chrX | 41345205 | C | T |
c.1051C>T
|
p.Arg351Trp
|
- | 3.0 |
|
B | |
| 18625 | chrX | 41345214 | G | A |
c.1060G>A
|
p.Asp354Asn
|
- | 3.0 |
|
B | |
| 6484 | chrX | 41345215 | A | G |
c.1061A>G
|
p.Asp354Gly
|
- | 3.0 |
|
B |