Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22052 | chr15 | 75422819 | G | T |
c.194C>A
|
p.Ser65Ter
|
- | 3.0 |
|
B | |
| 16232 | chr15 | 75955930 | A | T |
c.331+2T>A
|
p.?
|
- | 3.0 |
|
B | |
| 34212 | chr15 | 75955950 | T | A |
c.313A>T
|
p.Ser105Cys
|
- | 3.0 |
|
B | |
| 22630 | chr15 | 75961993 | G | A |
c.105-19C>T
|
-
|
3.0 |
|
B | ||
| 18728 | chr15 | 76011231 | C | G |
c.-1G>C
|
-
|
- | 3.0 |
|
B | |
| 3489 | chr15 | 77615756 | G | A |
c.151C>T
|
p.Gln51Ter
|
- | 3.0 |
|
B | |
| 20402 | chr15 | 79458243 | TA | T |
c.2104del
|
p.Ser702AlafsTer11
|
3.0 |
|
B | ||
| 24503 | chr15 | 80158040 | C | T |
c.82-20C>T
|
-
|
2.5 |
|
B | ||
| 11837 | chr15 | 80158055 | C | T |
c.82-5C>T
|
-
|
3.0 |
|
B | ||
| 19175 | chr15 | 80158145 | C | T |
c.167C>T
|
p.Ser56Phe
|
3.0 |
|
B | ||
| 23600 | chr15 | 80158175 | G | A |
c.192+5G>A
|
-
|
- | 3.0 |
|
B | |
| 10748 | chr15 | 80159848 | G | T |
c.285G>T
|
p.Arg95Ser
|
- | 3.0 |
|
B | |
| 1894 | chr15 | 80162274 | G | A |
c.393G>A
|
p.Arg131=
|
- | 3.0 |
|
B | |
| 25445 | chr15 | 80162290 | G | A |
c.409G>A
|
p.Val137Ile
|
2.5 |
|
B | ||
| 5662 | chr15 | 80168087 | C | T |
c.491C>T
|
p.Ser164Phe
|
- | 3.0 |
|
B | |
| 35236 | chr15 | 80168160 | G | A |
c.553+11G>A
|
-
|
2.0 |
|
B | ||
| 11838 | chr15 | 80172179 | G | A |
c.637G>A
|
p.Gly213Arg
|
- | 3.0 |
|
B | |
| 24764 | chr15 | 80173065 | A | C |
c.758A>C
|
p.Lys253Thr
|
- | 3.0 |
|
B | |
| 16488 | chr15 | 80181076 | C | T |
c.1097C>T
|
p.Ser366Leu
|
3.0 |
|
B | ||
| 9239 | chr15 | 80186159 | G | A |
c.1210G>A
|
p.Gly404Ser
|
3.0 |
|
B |