Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20783 | chr2 | 140850318 | A | G |
c.4723T>C
|
p.Phe1575Leu
|
- | 3.0 |
|
B | |
| 34686 | chr2 | 140851643 | G | C |
c.4711+9C>G
|
-
|
- | 3.0 |
|
B | |
| 9736 | chr2 | 140851719 | G | T |
c.4644C>A
|
p.His1548Gln
|
- | 3.0 |
|
B | |
| 7416 | chr2 | 140851770 | A | T |
c.4593T>A
|
p.Cys1531Ter
|
- | 4.0 |
|
B | |
| 6150 | chr2 | 140867676 | C | T |
c.4493G>A
|
p.Trp1498Ter
|
- | 4.0 |
|
B | |
| 6909 | chr2 | 140867705 | C | A |
c.4464G>T
|
p.Arg1488Ser
|
- | 3.0 |
|
B | |
| 8968 | chr2 | 140867754 | G | A |
c.4415C>T
|
p.Pro1472Leu
|
3.0 |
|
B | ||
| 2781 | chr2 | 140867773 | G | A |
c.4396C>T
|
p.His1466Tyr
|
- | 3.0 |
|
B | |
| 4112 | chr2 | 140868229 | G | A |
c.4204C>T
|
p.Pro1402Ser
|
3.0 |
|
B | ||
| 34878 | chr2 | 140868251 | C | G |
c.4182G>C
|
p.Trp1394Cys
|
- | 3.0 |
|
B | |
| 24896 | chr2 | 140868281 | A | G |
c.4170-18T>C
|
-
|
3.0 |
|
B | ||
| 18509 | chr2 | 140883818 | C | A |
c.4168G>T
|
p.Gly1390Ter
|
- | 4.0 |
|
B | |
| 5779 | chr2 | 140883872 | G | T |
c.4114C>A
|
p.Leu1372Ile
|
- | 3.0 |
|
B | |
| 26751 | chr2 | 140884012 | G | C |
c.3974C>G
|
p.Ala1325Gly
|
- | 3.0 |
|
B | |
| 8969 | chr2 | 140884021 | C | T |
c.3965G>A
|
p.Gly1322Asp
|
- | 3.0 |
|
B | |
| 10069 | chr2 | 140886200 | A | C |
c.3902T>G
|
p.Leu1301Ter
|
- | 3.5 |
|
B | |
| 10331 | chr2 | 140886303 | G | A |
c.3799C>T
|
p.Arg1267Cys
|
3.0 |
|
B | ||
| 30269 | chr2 | 140886324 | C | A |
c.3778G>T
|
p.Ala1260Ser
|
3.0 |
|
B | ||
| 34142 | chr2 | 140902983 | C | T |
c.3703G>A
|
p.Val1235Ile
|
- | 3.0 |
|
B | |
| 4589 | chr2 | 140903049 | C | T |
c.3637G>A
|
p.Glu1213Lys
|
- | 3.0 |
|
B |