Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21190 | chr8 | 41723609 | C | T |
c.736G>A
|
p.Ala246Thr
|
3.0 |
|
B | ||
| 35451 | chr8 | 41723611 | A | G |
c.734T>C
|
p.Ile245Thr
|
- | 3.0 |
|
B | |
| 33260 | chr8 | 41724473 | C | T |
c.694G>A
|
p.Val232Ile
|
3.0 |
|
B | ||
| 25059 | chr8 | 41724571 | G | A |
c.613-17C>T
|
-
|
3.0 |
|
B | ||
| 30188 | chr8 | 41727260 | A | T |
c.416T>A
|
p.Val139Glu
|
- | 3.0 |
|
B | |
| 28959 | chr8 | 41727305 | A | T |
c.371T>A
|
p.Leu124Ter
|
- | 4.0 |
|
B | |
| 14334 | chr8 | 41758136 | G | A |
c.29C>T
|
p.Ala10Val
|
3.0 |
|
B | ||
| 24477 | chr8 | 41758145 | G | A |
c.28-8C>T
|
-
|
- | 3.0 |
|
B | |
| 31168 | chr8 | 41932447 | A | G |
c.5773T>C
|
p.Tyr1925His
|
- | 3.0 |
|
B | |
| 25884 | chr8 | 41932478 | C | T |
c.5742G>A
|
p.Met1914Ile
|
- | 3.0 |
|
B | |
| 25224 | chr8 | 41932590 | C | T |
c.5630G>A
|
p.Arg1877His
|
2.5 |
|
B | ||
| 22227 | chr8 | 41932640 | C | G |
c.5580G>C
|
p.Lys1860Asn
|
- | 3.0 |
|
B | |
| 20676 | chr8 | 41932660 | G | A |
c.5560C>T
|
p.His1854Tyr
|
3.0 |
|
B | ||
| 22228 | chr8 | 41932790 | C | A |
c.5430G>T
|
p.Met1810Ile
|
2.5 |
|
B | ||
| 33396 | chr8 | 41933025 | T | C |
c.5195A>G
|
p.Tyr1732Cys
|
2.5 |
|
B | ||
| 20748 | chr8 | 41933645 | C | G |
c.4575G>C
|
p.Gln1525His
|
- | 3.0 |
|
B | |
| 29638 | chr8 | 41933737 | G | A |
c.4483C>T
|
p.Arg1495Cys
|
2.0 |
|
B | ||
| 791 | chr8 | 41933923 | G | A |
c.4297C>T
|
p.Gln1433Ter
|
- | 3.0 |
|
B | |
| 11388 | chr8 | 41933974 | G | A |
c.4246C>T
|
p.Pro1416Ser
|
3.0 |
|
B | ||
| 21954 | chr8 | 41934277 | C | T |
c.3943G>A
|
p.Asp1315Asn
|
3.0 |
|
B |