Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25710 | chr2 | 178740133 | T | G |
c.13100A>C
|
p.Lys4367Thr
|
- | 3.0 |
|
B | |
| 35123 | chr2 | 178740143 | C | T |
c.13090G>A
|
p.Val4364Met
|
2.0 |
|
B | ||
| 23953 | chr2 | 178740161 | C | T |
c.13072G>A
|
p.Glu4358Lys
|
3.0 |
|
B | ||
| 18388 | chr2 | 178740242 | G | A |
c.12991C>T
|
p.Pro4331Ser
|
3.0 |
|
B | ||
| 20592 | chr2 | 178740289 | C | T |
c.12944G>A
|
p.Gly4315Glu
|
3.0 |
|
B | ||
| 23326 | chr2 | 178740299 | C | T |
c.12934G>A
|
p.Glu4312Lys
|
3.0 |
|
B | ||
| 32694 | chr2 | 178740404 | T | C |
c.12829A>G
|
p.Ser4277Gly
|
3.0 |
|
B | ||
| 23129 | chr2 | 178740524 | T | G |
c.12709A>C
|
p.Lys4237Gln
|
- | 3.0 |
|
B | |
| 20894 | chr2 | 178740664 | G | A |
c.12569C>T
|
p.Ser4190Phe
|
- | 3.0 |
|
B | |
| 28429 | chr2 | 178740743 | C | T |
c.12490G>A
|
p.Glu4164Lys
|
- | 3.0 |
|
B | |
| 17233 | chr2 | 178741076 | G | A |
c.12157C>T
|
p.Pro4053Ser
|
- | 3.0 |
|
B | |
| 18441 | chr2 | 178741081 | T | C |
c.12152A>G
|
p.Asp4051Gly
|
- | 3.0 |
|
B | |
| 14445 | chr2 | 178741103 | A | G |
-
|
-
|
-
|
3.0 |
|
B | |
| 30272 | chr2 | 178741178 | C | T |
c.12055G>A
|
p.Glu4019Lys
|
- | 3.0 |
|
B | |
| 26505 | chr2 | 178741514 | G | C |
c.11719C>G
|
p.Leu3907Val
|
1.0 |
|
B | ||
| 18019 | chr2 | 178741622 | C | G |
c.11611G>C
|
p.Asp3871His
|
3.0 |
|
B | ||
| 32842 | chr2 | 178741643 | C | T |
c.11590G>A
|
p.Ala3864Thr
|
3.0 |
|
B | ||
| 26597 | chr2 | 178741663 | C | T |
c.11570G>A
|
p.Gly3857Glu
|
3.0 |
|
B | ||
| 30820 | chr2 | 178741679 | G | A |
c.11554C>T
|
p.Gln3852Ter
|
- | 3.0 |
|
B | |
| 22837 | chr2 | 178741733 | C | T |
c.11500G>A
|
p.Gly3834Arg
|
- | 3.0 |
|
B |