Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29315 | chr2 | 74368778 | C | T |
c.1804G>A
|
p.Asp602Asn
|
3.0 |
|
B | ||
| 26171 | chr2 | 74369204 | C | T |
c.1595G>A
|
p.Arg532Gln
|
3.0 |
|
B | ||
| 15291 | chr2 | 74369214 | C | G |
c.1585G>C
|
p.Asp529His
|
- | 3.0 |
|
B | |
| 32298 | chr2 | 74369960 | C | G |
c.1392+5G>C
|
-
|
- | 3.0 |
|
B | |
| 15702 | chr2 | 74370060 | CA | C |
c.1296del
|
p.Ala433LeufsTer11
|
- | 3.0 |
|
B | |
| 18659 | chr2 | 74371161 | T | C |
c.661A>G
|
p.Arg221Gly
|
- | 3.0 |
|
B | |
| 28059 | chr2 | 74371537 | C | A |
c.645G>T
|
p.Lys215Asn
|
3.0 |
|
B | ||
| 22830 | chr2 | 74376729 | G | A |
c.414+13C>T
|
-
|
- | 3.0 |
|
B | |
| 35398 | chr2 | 86075197 | G | A |
c.1444C>T
|
p.Gln482Ter
|
- | 3.0 |
|
B | |
| 4633 | chr2 | 86166636 | T | A |
c.664A>T
|
p.Lys222Ter
|
- | 3.0 |
|
B | |
| 4634 | chr2 | 86166638 | G | C |
c.662C>G
|
p.Ala221Gly
|
- | 3.0 |
|
B | |
| 32069 | chr2 | 88804891 | C | A |
n.4871+11C>A
|
-
|
1.5 |
|
B | ||
| 3358 | chr2 | 89085397 | G | A |
c.125C>T
|
p.Ser42Phe
|
3.0 |
|
B | ||
| 3615 | chr2 | 94871599 | C | T |
c.20C>T
|
p.Pro7Leu
|
- | 3.0 |
|
B | |
| 5156 | chr2 | 96143977 | G | A |
c.791C>T
|
p.Ser264Phe
|
- | 3.0 |
|
B | |
| 12253 | chr2 | 96254126 | G | C |
c.410-11C>G
|
-
|
- | 3.0 |
|
B | |
| 12034 | chr2 | 96254860 | G | A |
c.382C>T
|
p.Arg128Cys
|
3.0 |
|
B | ||
| 17208 | chr2 | 96254881 | G | A |
c.361C>T
|
p.Pro121Ser
|
- | 3.0 |
|
B | |
| 14913 | chr2 | 96254898 | A | G |
c.344T>C
|
p.Val115Ala
|
- | 3.0 |
|
B | |
| 16692 | chr2 | 96254922 | C | T |
c.320G>A
|
p.Ser107Asn
|
- | 3.0 |
|
B |