Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19787 | chr19 | 10987809 | C | T |
c.1003C>T
|
p.Gln335Ter
|
- | 4.0 |
|
B | |
| 30022 | chr19 | 10987885 | G | A |
c.1079G>A
|
p.Gly360Asp
|
3.0 |
|
B | ||
| 8794 | chr19 | 10989340 | G | A |
c.1142G>A
|
p.Arg381Gln
|
3.0 |
|
B | ||
| 14994 | chr19 | 10989444 | G | A |
c.1245+1G>A
|
p.?
|
- | 4.5 |
|
B | |
| 10789 | chr19 | 10991143 | C | T |
c.1246-7C>T
|
-
|
2.0 |
|
B | ||
| 8358 | chr19 | 10991178 | G | A |
c.1274G>A
|
p.Arg425Gln
|
2.5 |
|
B | ||
| 29837 | chr19 | 10991235 | G | A |
c.1331G>A
|
p.Arg444His
|
3.0 |
|
B | ||
| 35366 | chr19 | 10991249 | G | A |
c.1345G>A
|
p.Glu449Lys
|
3.0 |
|
B | ||
| 29860 | chr19 | 10991253 | C | T |
c.1349C>T
|
p.Ala450Val
|
3.0 |
|
B | ||
| 28669 | chr19 | 10994760 | AGCCTTGCGGGGAGATGTGTCCACCATGCTGCTGAAGGGTCAGCCTTCTCTTTTGTGCTTTCCTGCAGGAATACCTCAATAGCATTCTCCAGCAT | A |
c.1420-64_1449del
|
p.?
|
- | 4.0 |
|
B | |
| 1713 | chr19 | 10994880 | G | A |
c.1472G>A
|
p.Arg491Lys
|
- | 3.0 |
|
B | |
| 22957 | chr19 | 10994915 | G | A |
c.1507G>A
|
p.Ala503Thr
|
- | 3.0 |
|
B | |
| 5106 | chr19 | 10994942 | G | T |
c.1534G>T
|
p.Glu512Ter
|
- | 4.0 |
|
B | |
| 4074 | chr19 | 10994975 | GAGA | G |
c.1570_1572del
|
p.Lys524del
|
- | 3.0 |
|
B | |
| 19118 | chr19 | 10996217 | A | C |
c.1598A>C
|
p.Glu533Ala
|
- | 3.0 |
|
B | |
| 14995 | chr19 | 10996235 | G | A |
c.1616G>A
|
p.Arg539His
|
- | 3.0 |
|
B | |
| 20693 | chr19 | 10996300 | G | A |
c.1681G>A
|
p.Val561Met
|
- | 3.0 |
|
B | |
| 1872 | chr19 | 10996327 | CA | C |
c.1709del
|
p.Gln570ArgfsTer43
|
- | 4.0 |
|
B | |
| 19119 | chr19 | 10996336 | G | A |
c.1717G>A
|
p.Ala573Thr
|
- | 3.0 |
|
B | |
| 32906 | chr19 | 10996362 | GAAGAAA | G |
c.1755_1760del
|
p.Lys587_Lys588del
|
3.0 |
|
B |