Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27085 | chr2 | 147926123 | AAG | A |
c.1312_1313del
-
|
p.Arg438AlafsTer18
-
|
- | 4.0 |
|
B | |
| 20206 | chr2 | 151251573 | AT | A |
c.406del
|
p.Ile136SerfsTer4
|
3.0 |
|
B | ||
| 4635 | chr2 | 151508112 | G | T |
c.23347-3C>A
|
-
|
- | 3.0 |
|
B | |
| 8205 | chr2 | 156325962 | G | C |
c.1579C>G
|
p.Leu527Val
|
- | 3.0 |
|
B | |
| 8049 | chr2 | 156326142 | G | C |
c.1540+8C>G
|
-
|
- | 3.0 |
|
B | |
| 12257 | chr2 | 156326255 | A | C |
c.1435T>G
|
p.Phe479Val
|
- | 3.0 |
|
B | |
| 5110 | chr2 | 156326330 | T | C |
c.1362-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 14493 | chr2 | 156326344 | AAGAG | A |
c.1362-20_1362-17del
|
-
|
3.0 |
|
B | ||
| 20723 | chr2 | 156326346 | G | C |
c.1362-18C>G
|
-
|
3.0 |
|
B | ||
| 32757 | chr2 | 156328009 | G | A |
c.1000C>T
|
p.Arg334Cys
|
- | 3.0 |
|
B | |
| 19960 | chr2 | 156329334 | C | A |
c.853G>T
|
p.Gly285Cys
|
- | 3.0 |
|
B | |
| 32724 | chr2 | 156329376 | C | T |
c.811G>A
|
p.Ala271Thr
|
- | 3.0 |
|
B | |
| 675 | chr2 | 156329410 | G | C |
c.777C>G
|
p.Asn259Lys
|
3.0 |
|
B | ||
| 10564 | chr2 | 156329576 | G | A |
c.611C>T
|
p.Pro204Leu
|
- | 3.0 |
|
B | |
| 2659 | chr2 | 156329750 | G | A |
c.437C>T
|
p.Pro146Leu
|
- | 3.0 |
|
B | |
| 23891 | chr2 | 156330146 | C | A |
c.41G>T
|
p.Gly14Val
|
- | 3.0 |
|
B | |
| 25935 | chr2 | 157737650 | C | T |
c.1411G>A
|
p.Ala471Thr
|
- | 3.0 |
|
B | |
| 28571 | chr2 | 157738420 | T | C |
c.1395+20A>G
|
-
|
- | 3.0 |
|
B | |
| 8066 | chr2 | 157738426 | ACTGGCATTCTTACCGGGTCTGAGAAC | A |
c.1383_1395+13del
|
p.?
|
- | 3.0 |
|
B | |
| 11806 | chr2 | 157760871 | G | A |
c.1264+9C>T
|
-
|
- | 3.0 |
|
B |