Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4027 | chr19 | 35725624 | A | G |
c.3788A>G
|
p.Lys1263Arg
|
- | 3.0 |
|
B | |
| 15062 | chr19 | 35725748 | G | A |
c.3815G>A
|
p.Arg1272His
|
3.0 |
|
B | ||
| 34735 | chr19 | 35726249 | G | T |
c.3899G>T
|
p.Cys1300Phe
|
- | 3.0 |
|
B | |
| 20427 | chr19 | 35726353 | G | T |
c.4003G>T
|
p.Gly1335Ter
|
- | 4.0 |
|
B | |
| 5888 | chr19 | 35727221 | T | C |
c.4069T>C
|
p.Cys1357Arg
|
- | 3.0 |
|
B | |
| 15308 | chr19 | 35727276 | C | T |
c.4117+7C>T
|
-
|
3.0 |
|
B | ||
| 24923 | chr19 | 35727524 | C | T |
c.4204C>T
|
p.Arg1402Ter
|
4.5 |
|
B | ||
| 9511 | chr19 | 35728781 | C | T |
c.4579C>T
|
p.Leu1527Phe
|
- | 3.0 |
|
B | |
| 13069 | chr19 | 35729059 | G | A |
c.4762G>A
|
p.Gly1588Arg
|
3.0 |
|
B | ||
| 23107 | chr19 | 35729168 | C | T |
c.4789C>T
|
p.Arg1597Trp
|
3.0 |
|
B | ||
| 6237 | chr19 | 35729237 | G | A |
c.4858G>A
|
p.Glu1620Lys
|
3.0 |
|
B | ||
| 29209 | chr19 | 35730342 | G | C |
c.5077G>C
|
p.Glu1693Gln
|
- | 3.0 |
|
B | |
| 24920 | chr19 | 35730357 | G | A |
c.5092G>A
|
p.Asp1698Asn
|
2.5 |
|
B | ||
| 22043 | chr19 | 35730621 | G | A |
c.5276+5G>A
|
-
|
- | 3.0 |
|
B | |
| 15780 | chr19 | 35730817 | A | T |
c.5387A>T
|
p.Glu1796Val
|
- | 3.0 |
|
B | |
| 19841 | chr19 | 35730858 | C | A |
c.5428C>A
|
p.Pro1810Thr
|
- | 3.0 |
|
B | |
| 19840 | chr19 | 35730859 | CTTCCTCAGGTGTGGCTTTGGCTCTGTCTTCTTCCTGA | C |
c.5430_5437+29del
|
p.?
|
- | 3.5 |
|
B | |
| 10082 | chr19 | 35731917 | G | A |
c.5447G>A
|
p.Gly1816Asp
|
- | 3.0 |
|
B | |
| 31551 | chr19 | 35731946 | G | GT |
c.5478dup
|
p.Leu1827SerfsTer7
|
- | 4.0 |
|
B | |
| 18613 | chr19 | 35732060 | C | T |
c.5590C>T
|
p.Arg1864Ter
|
- | 3.5 |
|
B |