Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28439 | chr15 | 43407529 | A | AG |
c.5787dup
c.*2319dup
|
p.Ser1930LeufsTer11
-
|
- | 3.5 |
|
B | |
| 24377 | chr15 | 43408068 | A | G |
c.5621T>C
c.*2854A>G
|
p.Phe1874Ser
-
|
- | 3.0 |
|
B | |
| 31448 | chr15 | 43408080 | C | A |
c.5609G>T
c.*2866C>A
|
p.Arg1870Leu
-
|
- | 3.0 |
|
B | |
| 6263 | chr15 | 43408996 | A | C |
c.5501T>G
c.*3782A>C
|
p.Val1834Gly
-
|
- | 3.0 |
|
B | |
| 18027 | chr15 | 43409742 | C | A |
c.5306-1G>T
c.*4528C>A
|
p.?
-
|
- | 3.5 |
|
B | |
| 22504 | chr15 | 43409748 | TA | T |
c.5306-8del
c.*4545del
|
-
-
|
1.0 |
|
B | ||
| 19746 | chr15 | 43409748 | TAA | T |
c.5306-9_5306-8del
c.*4544_*4545del
|
-
-
|
3.0 |
|
B | ||
| 615 | chr15 | 43413227 | A | C |
c.5197T>G
-
|
p.Leu1733Val
-
|
- | 3.0 |
|
B | |
| 1866 | chr15 | 43413250 | C | T |
c.5174G>A
-
|
p.Gly1725Glu
-
|
- | 3.0 |
|
B | |
| 3796 | chr15 | 43413278 | C | A |
c.5146G>T
-
|
p.Glu1716Ter
-
|
- | 4.0 |
|
B | |
| 15834 | chr15 | 43415586 | G | T |
c.5089+8C>A
|
-
|
- | 3.0 |
|
B | |
| 8234 | chr15 | 43415689 | G | A |
c.4994C>T
|
p.Ser1665Phe
|
3.0 |
|
B | ||
| 28173 | chr15 | 43416209 | G | A |
c.4873+16C>T
|
-
|
- | 3.0 |
|
B | |
| 33144 | chr15 | 43416362 | T | C |
c.4736A>G
|
p.Lys1579Arg
|
- | 3.0 |
|
B | |
| 27517 | chr15 | 43420356 | G | A |
c.4630C>T
|
p.Pro1544Ser
|
- | 3.0 |
|
B | |
| 8873 | chr15 | 43420439 | C | T |
c.4547G>A
|
p.Gly1516Glu
|
- | 3.0 |
|
B | |
| 21767 | chr15 | 43420526 | G | A |
c.4460C>T
|
p.Pro1487Leu
|
- | 3.0 |
|
B | |
| 19747 | chr15 | 43420595 | C | T |
c.4391G>A
|
p.Arg1464His
|
3.0 |
|
B | ||
| 28253 | chr15 | 43420734 | C | A |
c.4252G>T
|
p.Glu1418Ter
|
- | 4.0 |
|
B | |
| 5883 | chr15 | 43421094 | C | T |
c.4181G>A
|
p.Gly1394Glu
|
- | 3.0 |
|
B |