Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34080 | chr2 | 32510634 | G | A |
c.10346G>A
|
p.Arg3449Lys
|
- | 3.0 |
|
B | |
| 30416 | chr2 | 32513108 | C | CT |
c.10524dup
|
p.Val3509CysfsTer4
|
- | 3.0 |
|
B | |
| 18206 | chr2 | 32513150 | T | C |
c.10564T>C
|
p.Phe3522Leu
|
- | 3.0 |
|
B | |
| 25119 | chr2 | 32515007 | C | T |
c.10586C>T
|
p.Ser3529Phe
|
- | 3.0 |
|
B | |
| 26443 | chr2 | 32515176 | GCAGGATCTTAGTTCATCTTTAACAGATGACTCTAAAAATGCAC | G |
c.10756_10798del
|
p.Gln3586LysfsTer6
|
- | 3.0 |
|
B | |
| 17090 | chr2 | 32515604 | G | GC |
c.11185dup
|
p.His3729ProfsTer2
|
- | 3.0 |
|
B | |
| 26541 | chr2 | 32518920 | T | C |
c.11597T>C
|
p.Leu3866Ser
|
- | 3.0 |
|
B | |
| 33969 | chr2 | 32524901 | C | G |
c.11637C>G
|
p.Ile3879Met
|
- | 3.0 |
|
B | |
| 15883 | chr2 | 32543359 | C | T |
c.12410C>T
|
p.Ala4137Val
|
3.0 |
|
B | ||
| 16356 | chr2 | 32543499 | C | G |
c.12550C>G
|
p.Leu4184Val
|
- | 3.0 |
|
B | |
| 22546 | chr2 | 32545718 | C | T |
c.12668C>T
|
p.Thr4223Ile
|
- | 3.0 |
|
B | |
| 18647 | chr2 | 32549437 | C | T |
c.13100C>T
|
p.Ser4367Phe
|
- | 3.0 |
|
B | |
| 26695 | chr2 | 32593943 | G | A |
c.13384G>A
|
p.Val4462Ile
|
1.5 |
|
B | ||
| 19185 | chr2 | 32595041 | A | C |
c.13509A>C
|
p.Lys4503Asn
|
- | 3.0 |
|
B | |
| 26761 | chr2 | 32597750 | G | C |
c.13613-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 33249 | chr2 | 32597766 | T | C |
c.13628T>C
|
p.Val4543Ala
|
3.0 |
|
B | ||
| 6487 | chr2 | 38985864 | CTG | C |
c.3960_3961del
|
p.His1320GlnfsTer25
|
- | 3.0 |
|
B | |
| 6294 | chr2 | 38985934 | T | C |
c.3892A>G
|
p.Thr1298Ala
|
3.0 |
|
B | ||
| 16357 | chr2 | 38985942 | C | G |
c.3884G>C
|
p.Arg1295Pro
|
- | 3.0 |
|
B | |
| 9999 | chr2 | 38986042 | G | C |
c.3784C>G
|
p.Gln1262Glu
|
- | 3.0 |
|
B |