Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13284 | chrX | 45070023 | A | C |
c.2524A>C
|
p.Asn842His
|
- | 3.0 |
|
B | |
| 2642 | chrX | 45070032 | G | A |
c.2533G>A
|
p.Gly845Ser
|
- | 3.0 |
|
B | |
| 33244 | chrX | 45070172 | CAG | C |
c.2674_2675del
|
p.Ser892CysfsTer5
|
- | 4.0 |
|
B | |
| 27331 | chrX | 45070197 | C | T |
c.2698C>T
|
p.His900Tyr
|
- | 3.0 |
|
B | |
| 16865 | chrX | 45070201 | G | A |
c.2702G>A
|
p.Ser901Asn
|
- | 3.0 |
|
B | |
| 18949 | chrX | 45076676 | TC | T |
c.2859-18del
|
-
|
3.0 |
|
B | ||
| 27236 | chrX | 45076768 | C | G |
c.2930C>G
|
p.Ser977Cys
|
3.0 |
|
B | ||
| 5436 | chrX | 45076801 | T | G |
c.2963T>G
|
p.Leu988Trp
|
- | 3.0 |
|
B | |
| 21676 | chrX | 45078470 | C | CAGT |
c.3061_3063dup
|
p.Val1021dup
|
- | 3.0 |
|
B | |
| 30929 | chrX | 45079178 | G | GA |
c.3129dup
|
p.Ala1044SerfsTer2
|
- | 4.0 |
|
B | |
| 29128 | chrX | 45079203 | AAGTGAGGACAC | A |
c.3156_3166del
|
p.Arg1053ValfsTer6
|
- | 4.0 |
|
B | |
| 13202 | chrX | 45079368 | TAA | T |
c.3300+19_3300+20del
|
-
|
- | 3.0 |
|
B | |
| 4888 | chrX | 45082637 | A | G |
c.3362A>G
|
p.Asp1121Gly
|
- | 3.0 |
|
B | |
| 4396 | chrX | 45082642 | T | A |
c.3365+2T>A
|
p.?
|
- | 3.5 |
|
B | |
| 33105 | chrX | 45082773 | C | CTATCTGATGACAAAAAGTACT |
c.3440+3_3440+4insCTTATCTGATGACAAAAAGTA
|
-
|
- | 3.0 |
|
B | |
| 2434 | chrX | 45083506 | C | T |
c.3487C>T
|
p.Arg1163Cys
|
3.0 |
|
B | ||
| 33565 | chrX | 45083539 | GTTGGTCATACCATATTGGGCATGAACACAGTT | G |
c.3521_3552del
|
p.Val1174AlafsTer18
|
- | 4.0 |
|
B | |
| 8519 | chrX | 45083562 | GAACACAGTTC | G |
c.3547_3556del
|
p.Thr1183TyrfsTer3
|
- | 4.0 |
|
B | |
| 34934 | chrX | 45083572 | C | T |
c.3553C>T
|
p.Gln1185Ter
|
- | 4.5 |
|
B | |
| 30968 | chrX | 45085916 | G | T |
c.3641G>T
|
p.Gly1214Val
|
- | 3.0 |
|
B |