Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11556 | chr17 | 7674180 | C | T |
c.782+1G>A
|
p.?
|
4.0 |
|
B | ||
| 5644 | chr17 | 7674181 | C | A |
c.782G>T
|
p.Ser261Ile
|
- | 4.0 |
|
B | |
| 26749 | chr17 | 7674182 | TG | T |
c.780del
|
p.Ser261ValfsTer84
|
4.5 |
|
B | ||
| 28060 | chr17 | 7674187 | T | A |
c.776A>T
|
p.Asp259Val
|
3.5 |
|
B | ||
| 17460 | chr17 | 7674188 | C | A |
c.775G>T
|
p.Asp259Tyr
|
4.0 |
|
B | ||
| 6574 | chr17 | 7674189 | T | A |
c.774A>T
|
p.Glu258Asp
|
4.0 |
|
B | ||
| 9121 | chr17 | 7674189 | TTCCAG | T |
c.769_773del
|
p.Leu257ArgfsTer5
|
- | 4.0 |
|
B | |
| 13000 | chr17 | 7674190 | T | G |
c.773A>C
|
p.Glu258Ala
|
3.5 |
|
B | ||
| 32049 | chr17 | 7674190 | TC | T |
c.772del
|
p.Glu258LysfsTer87
|
- | 5.0 |
|
B | |
| 15053 | chr17 | 7674191 | C | A |
c.772G>T
|
p.Glu258Ter
|
5.0 |
|
B | ||
| 34404 | chr17 | 7674191 | C | G |
c.772G>C
|
p.Glu258Gln
|
- | 3.0 |
|
B | |
| 7463 | chr17 | 7674191 | C | T |
c.772G>A
|
p.Glu258Lys
|
4.0 |
|
B | ||
| 6139 | chr17 | 7674193 | A | C |
c.770T>G
|
p.Leu257Arg
|
4.0 |
|
B | ||
| 2449 | chr17 | 7674193 | A | T |
c.770T>A
|
p.Leu257Gln
|
4.0 |
|
B | ||
| 5857 | chr17 | 7674194 | G | C |
c.769C>G
|
p.Leu257Val
|
3.5 |
|
B | ||
| 745 | chr17 | 7674196 | GTGA | G |
c.764_766del
|
p.Ile255del
|
4.0 |
|
B | ||
| 7723 | chr17 | 7674199 | A | C |
c.764T>G
|
p.Ile255Ser
|
3.5 |
|
B | ||
| 1744 | chr17 | 7674199 | A | G |
c.764T>C
|
p.Ile255Thr
|
3.5 |
|
B | ||
| 32817 | chr17 | 7674199 | A | T |
c.764T>A
|
p.Ile255Asn
|
3.5 |
|
B | ||
| 3826 | chr17 | 7674199 | ATGATGG | A |
c.758_763del
|
p.Thr253_Ile254del
|
- | 3.0 |
|
B |