Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20476 | chrX | 41215902 | G | T |
c.5335G>T
|
p.Asp1779Tyr
|
- | 3.0 |
|
B | |
| 11936 | chrX | 41215968 | G | A |
c.5401G>A
|
p.Asp1801Asn
|
- | 3.0 |
|
B | |
| 10492 | chrX | 41216281 | T | A |
c.5714T>A
|
p.Val1905Glu
|
- | 3.0 |
|
B | |
| 23217 | chrX | 41216281 | TA | T |
c.5716del
|
p.Thr1906GlnfsTer11
|
- | 3.5 |
|
B | |
| 32100 | chrX | 41216408 | T | G |
c.5841T>G
|
p.Asn1947Lys
|
- | 3.0 |
|
B | |
| 4576 | chrX | 41216418 | C | CT |
c.5857dup
|
p.Tyr1953LeufsTer2
|
- | 3.0 |
|
B | |
| 25514 | chrX | 41216528 | TGA | T |
c.5966_5967del
|
p.Arg1989LysfsTer12
|
- | 3.0 |
|
B | |
| 9177 | chrX | 41216531 | GAGA | G |
c.5967_5969del
|
p.Arg1989del
|
- | 3.0 |
|
B | |
| 2325 | chrX | 41216652 | G | T |
c.6085G>T
|
p.Gly2029Trp
|
- | 3.0 |
|
B | |
| 31596 | chrX | 41223255 | C | T |
c.6604C>T
|
p.Pro2202Ser
|
3.0 |
|
B | ||
| 7203 | chrX | 41223321 | G | GAA |
c.6671_6672dup
|
p.Leu2225AsnfsTer2
|
- | 3.0 |
|
B | |
| 2741 | chrX | 41223376 | C | G |
c.6725C>G
|
p.Ser2242Cys
|
- | 3.0 |
|
B | |
| 35666 | chrX | 41223418 | C | T |
c.6751+16C>T
|
-
|
- | 3.0 |
|
B | |
| 9390 | chrX | 41224828 | T | G |
c.6838T>G
|
p.Phe2280Val
|
- | 3.0 |
|
B | |
| 21681 | chrX | 41224960 | C | T |
c.6970C>T
|
p.Gln2324Ter
|
- | 3.0 |
|
B | |
| 6973 | chrX | 41337414 | G | A |
c.52G>A
|
p.Gly18Ser
|
- | 3.0 |
|
B | |
| 35254 | chrX | 41339021 | T | G |
c.104-15T>G
|
-
|
- | 3.0 |
|
B | |
| 35066 | chrX | 41339026 | A | T |
c.104-10A>T
|
-
|
1.5 |
|
B | ||
| 11424 | chrX | 41341491 | C | G |
c.159C>G
|
p.Tyr53Ter
|
- | 4.0 |
|
B | |
| 23113 | chrX | 41342539 | G | A |
c.329G>A
|
p.Arg110His
|
- | 3.0 |
|
B |