Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26914 | chrX | 53197766 | C | T |
c.2622+5G>A
|
-
|
3.0 |
|
B | ||
| 23667 | chrX | 53197833 | G | A |
c.2560C>T
|
p.Arg854Trp
|
3.0 |
|
B | ||
| 21709 | chrX | 53197871 | TG | T |
c.2521del
|
p.His841ThrfsTer8
|
- | 4.0 |
|
B | |
| 26185 | chrX | 53198602 | G | A |
c.2404C>T
|
p.Arg802Cys
|
3.0 |
|
B | ||
| 9690 | chrX | 53198625 | A | C |
c.2381T>G
|
p.Leu794Arg
|
- | 3.0 |
|
B | |
| 11231 | chrX | 53198830 | C | A |
c.2302G>T
|
p.Glu768Ter
|
- | 4.0 |
|
B | |
| 5372 | chrX | 53198977 | C | T |
c.2243G>A
|
p.Arg748Gln
|
3.0 |
|
B | ||
| 31231 | chrX | 53198991 | G | C |
c.2229C>G
|
p.Ser743Arg
|
- | 3.0 |
|
B | |
| 24774 | chrX | 53199140 | G | A |
c.2080C>T
|
p.Arg694Ter
|
4.0 |
|
B | ||
| 21354 | chrX | 53199166 | C | T |
c.2062-8G>A
|
-
|
3.0 |
|
B | ||
| 27403 | chrX | 53201853 | C | T |
c.1866+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 20191 | chrX | 53201956 | C | G |
c.1764G>C
|
p.Gln588His
|
- | 3.0 |
|
B | |
| 26915 | chrX | 53210587 | G | A |
c.1584-11C>T
|
-
|
- | 3.0 |
|
B | |
| 30039 | chrX | 53210676 | CAGTGGAGGT | C |
c.1574_1582del
|
p.Tyr525_His527del
|
- | 3.0 |
|
B | |
| 29350 | chrX | 53211505 | C | T |
c.1393G>A
|
p.Glu465Lys
|
- | 3.0 |
|
B | |
| 22483 | chrX | 53215759 | AAGCAGAGCATTAAGAAGTCAGGGCTGGGTCCTT | A |
c.963+3_963+35del
|
-
|
- | 3.5 |
|
B | |
| 1785 | chrX | 53216175 | A | T |
c.680T>A
|
p.Ile227Asn
|
- | 3.0 |
|
B | |
| 34442 | chrX | 53217196 | G | A |
c.604C>T
|
p.Gln202Ter
|
- | 4.0 |
|
B | |
| 28143 | chrX | 53217208 | G | A |
c.592C>T
|
p.Arg198Ter
|
- | 4.0 |
|
B | |
| 16558 | chrX | 53217843 | G | A |
c.475C>T
|
p.Arg159Cys
|
3.0 |
|
B |