Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21794 | chr15 | 89333467 | G | T |
c.288C>A
|
p.Gly96=
|
- | 3.0 |
|
B | |
| 20133 | chr15 | 89333596 | T | TTGC |
c.156_158dup
|
p.Gln55dup
|
1.5 |
|
B | ||
| 20134 | chr15 | 89333596 | TTGCTGC | T |
c.153_158del
|
p.Gln54_Gln55del
|
1.5 |
|
B | ||
| 19689 | chr15 | 89333627 | T | TGCC |
c.125_127dup
|
p.Arg42dup
|
2.5 |
|
B | ||
| 17912 | chr15 | 89333627 | TGCC | T |
c.125_127del
|
p.Arg42del
|
3.0 |
|
B | ||
| 4535 | chr15 | 89582930 | C | T |
c.899C>T
|
p.Pro300Leu
|
- | 3.0 |
|
B | |
| 5440 | chr15 | 90084873 | G | A |
-
c.1214C>T
|
-
p.Thr405Met
|
3.0 |
|
B | ||
| 15012 | chr15 | 90085071 | C | T |
-
c.1108G>A
|
-
p.Ala370Thr
|
- | 3.0 |
|
B | |
| 6981 | chr15 | 90088605 | C | A |
c.516G>T
|
p.Arg172Ser
|
- | 4.5 |
|
B | |
| 8858 | chr15 | 90088606 | C | A |
c.515G>T
|
p.Arg172Met
|
4.5 |
|
B | ||
| 2345 | chr15 | 90088606 | C | G |
c.515G>C
|
p.Arg172Thr
|
- | 4.5 |
|
B | |
| 22377 | chr15 | 90088606 | C | T |
c.515G>A
|
p.Arg172Lys
|
4.5 |
|
B | ||
| 3503 | chr15 | 90088607 | T | A |
c.514A>T
|
p.Arg172Trp
|
4.0 |
|
B | ||
| 15013 | chr15 | 90088623 | C | A |
c.498G>T
|
p.Lys166Asn
|
- | 3.0 |
|
B | |
| 10757 | chr15 | 90088752 | G | A |
c.374-5C>T
|
-
|
- | 3.0 |
|
B | |
| 18161 | chr15 | 90090587 | G | A |
c.265C>T
|
p.Arg89Cys
|
3.0 |
|
B | ||
| 7746 | chr15 | 90102356 | C | T |
c.35G>A
|
p.Cys12Tyr
|
- | 3.0 |
|
B | |
| 24917 | chr15 | 90530066 | C | A |
c.-6C>A
|
-
|
- | 3.0 |
|
B | |
| 29922 | chr15 | 90530078 | G | C |
c.7G>C
|
p.Ala3Pro
|
- | 3.0 |
|
B | |
| 31848 | chr15 | 90530147 | C | T |
c.76C>T
|
p.Gln26Ter
|
- | 3.0 |
|
B |