Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19257 | chr2 | 47832377 | A | G |
c.1370T>C
|
p.Val457Ala
|
- | 3.0 |
|
B | |
| 33718 | chr2 | 47832422 | C | T |
c.1325G>A
|
p.Gly442Glu
|
- | 4.0 |
|
B | |
| 30461 | chr2 | 47832582 | T | G |
c.1250A>C
|
p.Asp417Ala
|
- | 3.0 |
|
B | |
| 18437 | chr2 | 47834772 | T | C |
c.801+16A>G
|
-
|
2.0 |
|
B | ||
| 5116 | chr2 | 47838940 | GAGA | G |
c.503_505del
|
p.Phe168del
|
- | 3.0 |
|
B | |
| 16906 | chr2 | 47839448 | C | T |
c.413G>A
|
p.Arg138Lys
|
- | 3.0 |
|
B | |
| 17020 | chr2 | 47905551 | GGCT | G |
c.167_169del
|
p.Gln56del
|
2.0 |
|
B | ||
| 23430 | chr2 | 47905586 | AGGCTGCTGCTGGGGC | A |
c.120_134del
|
p.Gln42_Pro46del
|
2.0 |
|
B | ||
| 26699 | chr2 | 47905613 | GGGCGGCTGCGGC | G |
c.96_107del
|
p.Pro33_Pro36del
|
2.0 |
|
B | ||
| 13581 | chr2 | 48968704 | C | T |
c.848G>A
|
p.Arg283Gln
|
3.0 |
|
B | ||
| 3300 | chr2 | 55578332 | TA | T |
c.1478del
|
p.Leu493Ter
|
3.0 |
|
B | ||
| 9866 | chr2 | 58159770 | G | A |
c.*77G>A
c.1123C>T
|
-
p.His375Tyr
|
- | 3.0 |
|
B | |
| 124 | chr2 | 58160108 | C | T |
-
c.1092G>A
|
-
p.Lys364=
|
4.0 |
|
B | ||
| 19382 | chr2 | 58163083 | TA | T |
-
c.776-10del
|
-
-
|
2.0 |
|
B | ||
| 7392 | chr2 | 58165739 | G | A |
c.676C>T
|
p.Arg226Cys
|
3.0 |
|
B | ||
| 24072 | chr2 | 58165796 | T | C |
c.619A>G
|
p.Ile207Val
|
- | 3.0 |
|
B | |
| 23942 | chr2 | 58188706 | T | C |
c.540+9888A>G
|
-
|
3.0 |
|
B | ||
| 19859 | chr2 | 58188770 | GAA | G |
c.540+9822_540+9823del
|
-
|
3.0 |
|
B | ||
| 20203 | chr2 | 58188770 | GAAA | G |
c.540+9821_540+9823del
|
-
|
3.0 |
|
B | ||
| 20278 | chr2 | 58188770 | GAAAA | G |
c.540+9820_540+9823del
|
-
|
- | 3.0 |
|
B |