Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16191 | chr2 | 120988396 | C | G |
c.2431C>G
|
p.Pro811Ala
|
- | 3.0 |
|
B | |
| 26326 | chr2 | 120988397 | C | T |
c.2432C>T
|
p.Pro811Leu
|
3.0 |
|
B | ||
| 2352 | chr2 | 120988501 | T | C |
c.2536T>C
|
p.Ser846Pro
|
- | 3.0 |
|
B | |
| 11086 | chr2 | 120988502 | C | T |
c.2537C>T
|
p.Ser846Leu
|
- | 3.0 |
|
B | |
| 22432 | chr2 | 120988516 | G | A |
c.2551G>A
|
p.Glu851Lys
|
- | 3.0 |
|
B | |
| 28516 | chr2 | 120988647 | G | T |
c.2682G>T
|
p.Met894Ile
|
- | 3.0 |
|
B | |
| 5117 | chr2 | 120988663 | C | G |
c.2698C>G
|
p.Leu900Val
|
- | 3.0 |
|
B | |
| 5397 | chr2 | 120988807 | G | A |
c.2842G>A
|
p.Gly948Arg
|
3.0 |
|
B | ||
| 32650 | chr2 | 120988853 | C | T |
c.2888C>T
|
p.Ser963Phe
|
- | 3.0 |
|
B | |
| 12709 | chr2 | 120988930 | G | A |
c.2965G>A
|
p.Gly989Ser
|
- | 3.0 |
|
B | |
| 13136 | chr2 | 120989126 | A | C |
c.3161A>C
|
p.Lys1054Thr
|
- | 3.0 |
|
B | |
| 35628 | chr2 | 120989279 | C | T |
c.3314C>T
|
p.Pro1105Leu
|
3.0 |
|
B | ||
| 2390 | chr2 | 120989399 | A | G |
c.3434A>G
|
p.Lys1145Arg
|
3.0 |
|
B | ||
| 27664 | chr2 | 120989590 | C | T |
c.3625C>T
|
p.Arg1209Ter
|
3.0 |
|
B | ||
| 23035 | chr2 | 120989613 | GT | G |
c.3649del
|
p.Cys1217ValfsTer4
|
- | 3.0 |
|
B | |
| 10155 | chr2 | 120989661 | A | C |
c.3696A>C
|
p.Gln1232His
|
3.0 |
|
B | ||
| 16696 | chr2 | 120989668 | C | T |
c.3703C>T
|
p.Pro1235Ser
|
- | 3.0 |
|
B | |
| 16441 | chr2 | 120989785 | G | C |
c.3820G>C
|
p.Asp1274His
|
- | 3.0 |
|
B | |
| 5650 | chr2 | 120989895 | C | A |
c.3930C>A
|
p.His1310Gln
|
- | 3.0 |
|
B | |
| 12153 | chr2 | 120989986 | C | T |
c.4021C>T
|
p.Pro1341Ser
|
3.0 |
|
B |