Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21131 | chrX | 2733383 | A | G |
c.476-4817A>G
|
-
|
- | 3.0 |
|
B | |
| 24721 | chrX | 2738251 | C | T |
c.527C>T
|
p.Pro176Leu
|
- | 3.0 |
|
B | |
| 758 | chrX | 3626452 | A | G |
c.782T>C
|
p.Ile261Thr
|
- | 3.0 |
|
B | |
| 28423 | chrX | 8795281 | C | T |
c.628G>A
|
p.Ala210Thr
|
3.0 |
|
B | ||
| 18746 | chrX | 8795304 | TCTG | T |
c.602_604del
|
p.Ala201del
|
3.0 |
|
B | ||
| 20165 | chrX | 8796278 | GT | G |
c.477del
|
p.Lys159AsnfsTer3
|
3.0 |
|
B | ||
| 23639 | chrX | 11120051 | A | G |
c.522-856A>G
|
-
|
- | 3.0 |
|
B | |
| 23950 | chrX | 11138987 | G | A |
c.2801C>T
|
p.Ala934Val
|
- | 3.0 |
|
B | |
| 22661 | chrX | 11138995 | G | T |
c.2793C>A
|
p.Ser931=
|
- | 3.0 |
|
B | |
| 24381 | chrX | 11139044 | G | T |
c.2744C>A
|
p.Ala915Asp
|
- | 3.0 |
|
B | |
| 14803 | chrX | 11139063 | C | T |
c.2725G>A
|
p.Asp909Asn
|
- | 3.0 |
|
B | |
| 19151 | chrX | 11139081 | C | T |
c.2707G>A
|
p.Gly903Ser
|
- | 3.0 |
|
B | |
| 18919 | chrX | 11139117 | C | T |
c.2671G>A
|
p.Ala891Thr
|
3.0 |
|
B | ||
| 32324 | chrX | 11139152 | C | T |
c.2636G>A
|
p.Arg879Gln
|
3.0 |
|
B | ||
| 12779 | chrX | 11139162 | C | T |
c.2626G>A
|
p.Asp876Asn
|
- | 3.0 |
|
B | |
| 21101 | chrX | 11139211 | C | CAG |
c.2575_2576dup
|
p.Gln860CysfsTer68
|
- | 3.0 |
|
B | |
| 28130 | chrX | 11139336 | C | T |
c.2452G>A
|
p.Ala818Thr
|
3.0 |
|
B | ||
| 23973 | chrX | 11139352 | G | T |
c.2436C>A
|
p.His812Gln
|
- | 3.0 |
|
B | |
| 16863 | chrX | 11139377 | G | A |
c.2411C>T
|
p.Ala804Val
|
- | 3.0 |
|
B | |
| 12415 | chrX | 11139415 | G | C |
c.2373C>G
|
p.Asp791Glu
|
1.0 |
|
A |