Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11807 | chr2 | 168995336 | A | G |
c.611+13T>C
|
-
|
- | 3.0 |
|
B | |
| 29079 | chr2 | 168995395 | AC | A |
c.564del
|
p.Trp189GlyfsTer10
|
- | 3.0 |
|
B | |
| 7690 | chr2 | 168995444 | C | G |
c.516G>C
|
p.Gln172His
|
- | 3.0 |
|
B | |
| 6646 | chr2 | 168995467 | T | C |
c.493A>G
|
p.Ile165Val
|
- | 3.0 |
|
B | |
| 22259 | chr2 | 168996734 | G | A |
c.390-12C>T
|
-
|
- | 3.0 |
|
B | |
| 23833 | chr2 | 169013268 | C | T |
c.389+4G>A
|
-
|
3.0 |
|
B | ||
| 10168 | chr2 | 169013283 | TC | T |
c.377del
|
p.Gly126GlufsTer7
|
- | 3.0 |
|
B | |
| 26058 | chr2 | 169013284 | C | T |
c.377G>A
|
p.Gly126Glu
|
- | 3.0 |
|
B | |
| 34879 | chr2 | 169013446 | T | C |
c.215A>G
|
p.His72Arg
|
- | 3.0 |
|
B | |
| 6323 | chr2 | 169014308 | G | C |
c.145C>G
|
p.Gln49Glu
|
- | 3.0 |
|
B | |
| 10156 | chr2 | 169016806 | GA | G |
c.77-8del
|
-
|
2.0 |
|
B | ||
| 15647 | chr2 | 169018061 | G | A |
c.65C>T
|
p.Ser22Leu
|
3.0 |
|
B | ||
| 12802 | chr2 | 169018080 | C | T |
c.46G>A
|
p.Glu16Lys
|
3.0 |
|
B | ||
| 644 | chr2 | 169018119 | C | T |
c.7G>A
|
p.Asp3Asn
|
- | 3.0 |
|
B | |
| 4637 | chr2 | 169081541 | T | A |
c.-41T>A
|
-
|
- | 3.0 |
|
B | |
| 11240 | chr2 | 169270890 | C | CACACACAG |
c.2320+13_2320+14insCTGTGTGT
|
-
|
- | 3.0 |
|
B | |
| 4347 | chr2 | 169736227 | G | A |
c.1213G>A
|
p.Gly405Ser
|
- | 3.0 |
|
B | |
| 11205 | chr2 | 170055510 | G | C |
c.4711G>C
|
p.Ala1571Pro
|
- | 3.0 |
|
B | |
| 17055 | chr2 | 171979355 | C | A |
c.1084C>A
|
p.Pro362Thr
|
- | 3.0 |
|
B | |
| 33089 | chr2 | 172556157 | C | G |
c.7C>G
|
p.Leu3Val
|
- | 3.0 |
|
B |