Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3592 | chr8 | 89955376 | T | A |
c.1304A>T
|
p.Lys435Ile
|
- | 3.0 |
|
B | |
| 13564 | chr8 | 89955421 | G | C |
c.1259C>G
|
p.Thr420Ser
|
3.0 |
|
B | ||
| 12182 | chr8 | 89955497 | T | A |
c.1183A>T
|
p.Met395Leu
|
- | 3.0 |
|
B | |
| 11476 | chr8 | 89958722 | T | C |
c.1124+3A>G
|
-
|
- | 3.5 |
|
B | |
| 32700 | chr8 | 89958758 | A | C |
c.1091T>G
|
p.Val364Gly
|
- | 3.0 |
|
B | |
| 28122 | chr8 | 89958848 | T | A |
c.1001A>T
|
p.Lys334Met
|
- | 3.0 |
|
B | |
| 15029 | chr8 | 89971185 | CA | C |
c.689del
|
p.Leu230Ter
|
- | 4.0 |
|
B | |
| 9863 | chr8 | 89978271 | G | A |
c.533C>T
|
p.Thr178Ile
|
- | 3.0 |
|
B | |
| 15983 | chr8 | 89980724 | T | A |
c.480+10A>T
|
-
|
- | 3.0 |
|
B | |
| 1552 | chr8 | 89980834 | G | A |
c.380C>T
|
p.Ala127Val
|
- | 3.0 |
|
B | |
| 15193 | chr8 | 89981511 | C | T |
c.184G>A
|
p.Glu62Lys
|
- | 3.0 |
|
B | |
| 23161 | chr8 | 89982778 | GA | G |
c.114del
|
p.Gln39SerfsTer10
|
4.0 |
|
B | ||
| 24135 | chr8 | 89982829 | C | T |
c.64G>A
|
p.Val22Ile
|
3.0 |
|
B | ||
| 9925 | chr8 | 89982874 | T | A |
c.38-19A>T
|
-
|
2.0 |
|
B | ||
| 3148 | chr8 | 91960264 | G | A |
c.1793C>T
|
p.Thr598Ile
|
- | 3.0 |
|
B | |
| 5514 | chr8 | 91960417 | T | A |
c.1640A>T
|
p.His547Leu
|
- | 3.0 |
|
B | |
| 2523 | chr8 | 91960489 | C | A |
c.1568G>T
|
p.Ser523Ile
|
- | 3.0 |
|
B | |
| 25825 | chr8 | 91960493 | C | A |
c.1564G>T
|
p.Ala522Ser
|
- | 3.0 |
|
B | |
| 27596 | chr8 | 91960509 | C | G |
c.1548G>C
|
p.Trp516Cys
|
- | 3.0 |
|
B | |
| 17908 | chr8 | 91970702 | C | T |
c.1495G>A
|
p.Glu499Lys
|
- | 3.0 |
|
B |