Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24574 | chr9 | 21974686 | G | C |
c.142C>G
|
p.Pro48Ala
|
- | 3.0 |
|
B | |
| 24575 | chr9 | 21974689 | TCCGA | T |
c.135_138del
|
p.Arg46GlyfsTer6
|
- | 4.5 |
|
B | |
| 961 | chr9 | 21974696 | G | GT |
c.131dup
|
p.Tyr44Ter
|
4.5 |
|
B | ||
| 2485 | chr9 | 21974704 | T | A |
c.124A>T
|
p.Asn42Tyr
|
- | 3.0 |
|
B | |
| 12280 | chr9 | 21974704 | TCGGTG | T |
c.119_123del
|
p.Ala40GlufsTer2
|
- | 4.0 |
|
B | |
| 16085 | chr9 | 21974713 | TGGGCAGC | T |
c.108_114del
|
p.Leu37ThrfsTer14
|
- | 4.0 |
|
B | |
| 8471 | chr9 | 21974715 | GGCAGCGCCCCCGCCTCCA | G |
c.95_112del
|
p.Leu32_Leu37del
|
- | 3.5 |
|
B | |
| 33563 | chr9 | 21974719 | GCGCC | G |
c.105_108del
|
p.Ala36CysfsTer16
|
- | 4.0 |
|
B | |
| 10393 | chr9 | 21974727 | GCCTCCAGCAGCGCCCGCA | G |
c.83_100del
|
p.Val28_Glu33del
|
- | 3.5 |
|
B | |
| 30334 | chr9 | 21974731 | C | A |
c.97G>T
|
p.Glu33Ter
|
- | 4.0 |
|
B | |
| 2933 | chr9 | 21974731 | CCA | C |
c.95_96del
|
p.Leu32ArgfsTer11
|
- | 4.0 |
|
B | |
| 2826 | chr9 | 21974733 | A | C |
c.95T>G
|
p.Leu32Arg
|
- | 3.5 |
|
B | |
| 24805 | chr9 | 21974733 | A | G |
c.95T>C
|
p.Leu32Pro
|
3.5 |
|
B | ||
| 13847 | chr9 | 21974736 | A | G |
c.92T>C
|
p.Leu31Pro
|
- | 3.0 |
|
B | |
| 353 | chr9 | 21974737 | GCGCC | G |
c.87_90del
|
p.Ala30CysfsTer22
|
- | 4.0 |
|
B | |
| 4572 | chr9 | 21974742 | C | CGCACCTCCT |
c.77_85dup
|
p.Val28_Arg29insGlnGluVal
|
- | 3.0 |
|
B | |
| 17614 | chr9 | 21974742 | C | G |
c.86G>C
|
p.Arg29Pro
|
3.0 |
|
B | ||
| 34905 | chr9 | 21974746 | CCTCCTCTACCCGACCCCGGGCCGCGG | C |
c.56_81del
|
p.Ala19GlyfsTer16
|
- | 4.0 |
|
B | |
| 354 | chr9 | 21974749 | C | A |
c.79G>T
|
p.Glu27Ter
|
4.67 |
|
A | ||
| 6812 | chr9 | 21974754 | AC | A |
c.73del
|
p.Val25Ter
|
- | 4.0 |
|
B |