Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15117 | chr2 | 47798612 | T | C |
c.629T>C
|
p.Val210Ala
|
3.0 |
|
B | ||
| 24071 | chr2 | 47798641 | G | A |
c.658G>A
|
p.Glu220Lys
|
3.0 |
|
B | ||
| 24243 | chr2 | 47798710 | C | T |
c.727C>T
|
p.Arg243Cys
|
2.5 |
|
B | ||
| 15118 | chr2 | 47798711 | G | A |
c.728G>A
|
p.Arg243His
|
2.5 |
|
B | ||
| 7928 | chr2 | 47798791 | A | T |
c.808A>T
|
p.Lys270Ter
|
- | 4.0 |
|
B | |
| 10774 | chr2 | 47798808 | TGATGAAATAAGCAGTGGAGTGGGGGATAGTGAGAGTGAAGGCCTGA | T |
c.826_871del
|
p.Asp276ThrfsTer14
|
- | 4.0 |
|
B | |
| 11359 | chr2 | 47798911 | CTT | C |
c.929_930del
|
p.Leu310GlnfsTer6
|
- | 4.0 |
|
B | |
| 15119 | chr2 | 47799065 | G | A |
c.1082G>A
|
p.Arg361His
|
2.5 |
|
B | ||
| 8583 | chr2 | 47799271 | G | A |
c.1288G>A
|
p.Gly430Arg
|
3.0 |
|
B | ||
| 9012 | chr2 | 47799367 | C | T |
c.1384C>T
|
p.Pro462Ser
|
3.0 |
|
B | ||
| 8341 | chr2 | 47799543 | T | C |
c.1560T>C
|
p.Gly520=
|
2.0 |
|
B | ||
| 715 | chr2 | 47799574 | C | T |
c.1591C>T
|
p.Pro531Ser
|
- | 3.0 |
|
B | |
| 119 | chr2 | 47799674 | C | A |
c.1691C>A
|
p.Ser564Ter
|
4.67 |
|
A | ||
| 6209 | chr2 | 47799704 | C | T |
c.1721C>T
|
p.Ser574Leu
|
- | 3.0 |
|
B | |
| 15120 | chr2 | 47799713 | G | A |
c.1730G>A
|
p.Arg577His
|
3.0 |
|
B | ||
| 6567 | chr2 | 47799872 | C | T |
c.1889C>T
|
p.Ala630Val
|
- | 3.0 |
|
B | |
| 35304 | chr2 | 47799904 | G | T |
c.1921G>T
|
p.Glu641Ter
|
4.5 |
|
B | ||
| 22152 | chr2 | 47799929 | A | T |
c.1946A>T
|
p.Asp649Val
|
3.0 |
|
B | ||
| 24196 | chr2 | 47800088 | C | T |
c.2105C>T
|
p.Ser702Leu
|
3.0 |
|
B | ||
| 8582 | chr2 | 47800283 | C | T |
c.2300C>T
|
p.Thr767Ile
|
4.0 |
|
B |