Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9626 | chr9 | 21971092 | GC | G |
c.266del
|
p.Gly89AlafsTer57
|
- | 4.0 |
|
B | |
| 9627 | chr9 | 21971096 | T | A |
c.263A>T
|
p.Glu88Val
|
- | 3.0 |
|
B | |
| 23502 | chr9 | 21971097 | C | A |
c.262G>T
|
p.Glu88Ter
|
4.5 |
|
B | ||
| 6582 | chr9 | 21971102 | G | T |
c.257C>A
|
p.Ala86Asp
|
- | 5.0 |
|
B | |
| 15771 | chr9 | 21971109 | C | T |
c.250G>A
|
p.Asp84Asn
|
4.0 |
|
B | ||
| 1121 | chr9 | 21971112 | G | A |
c.247C>T
|
p.His83Tyr
|
3.5 |
|
B | ||
| 339 | chr9 | 21971112 | G | C |
c.247C>G
|
p.His83Asp
|
4.5 |
|
B | ||
| 1739 | chr9 | 21971112 | G | GCA |
c.245_246dup
|
p.His83CysfsTer64
|
- | 4.0 |
|
B | |
| 30990 | chr9 | 21971112 | G | T |
c.247C>A
|
p.His83Asn
|
- | 3.0 |
|
B | |
| 340 | chr9 | 21971117 | G | A |
c.242C>T
|
p.Pro81Leu
|
5.0 |
|
B | ||
| 10396 | chr9 | 21971117 | G | C |
c.242C>G
|
p.Pro81Arg
|
4.0 |
|
B | ||
| 7581 | chr9 | 21971118 | G | A |
c.241C>T
|
p.Pro81Ser
|
3.5 |
|
B | ||
| 341 | chr9 | 21971121 | G | A |
c.238C>T
|
p.Arg80Ter
|
4.5 |
|
B | ||
| 2340 | chr9 | 21971121 | GGGTGAGAGTGGCGGGGTC | G |
c.220_237del
|
p.Asp74_Thr79del
|
- | 3.0 |
|
B | |
| 342 | chr9 | 21971122 | G | A |
c.237C>T
|
p.Thr79=
|
- | 2.5 |
|
B | |
| 343 | chr9 | 21971124 | TGA | T |
c.233_234del
|
p.Leu78HisfsTer41
|
4.67 |
|
A | ||
| 7582 | chr9 | 21971138 | T | A |
c.221A>T
|
p.Asp74Val
|
3.0 |
|
B | ||
| 5728 | chr9 | 21971138 | TCGG | T |
c.218_220del
|
p.Ala73del
|
- | 3.0 |
|
B | |
| 344 | chr9 | 21971139 | C | T |
c.220G>A
|
p.Asp74Asn
|
4.0 |
|
A | ||
| 28291 | chr9 | 21971144 | CAGTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCACTCGGGCGCTGCCCATCATCATGACCTGCCAGAGAGAACAGAATGGTCAGAGCCAGGGTG | C |
c.151-35_214del
|
p.?
|
- | 4.0 |
|
B |