Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13196 | chr15 | 89274240 | C | T |
c.1048C>T
|
p.Leu350Phe
|
- | 3.0 |
|
B | |
| 13197 | chr15 | 89274255 | C | T |
c.1063C>T
|
p.Pro355Ser
|
- | 3.0 |
|
B | |
| 20669 | chr15 | 89281200 | C | G |
c.1412C>G
|
p.Pro471Arg
|
3.0 |
|
B | ||
| 18429 | chr15 | 89285078 | G | A |
c.1699-18G>A
|
-
|
- | 3.0 |
|
B | |
| 24504 | chr15 | 89285105 | G | C |
c.1708G>C
|
p.Asp570His
|
- | 3.0 |
|
B | |
| 5305 | chr15 | 89285218 | G | A |
c.1821G>A
|
p.Glu607=
|
- | 3.0 |
|
B | |
| 2150 | chr15 | 89293900 | G | T |
c.2359G>T
|
p.Glu787Ter
|
- | 3.0 |
|
B | |
| 9269 | chr15 | 89293997 | G | A |
c.2456G>A
|
p.Arg819Lys
|
- | 3.0 |
|
B | |
| 1046 | chr15 | 89299815 | A | T |
c.2652A>T
|
p.Arg884Ser
|
- | 3.0 |
|
B | |
| 19750 | chr15 | 89300353 | CAG | C |
c.2861_2862del
|
p.Arg954AsnfsTer17
|
- | 3.5 |
|
B | |
| 19022 | chr15 | 89303849 | T | C |
c.3007-15T>C
|
-
|
- | 3.0 |
|
B | |
| 5431 | chr15 | 89303912 | C | T |
c.3055C>T
|
p.Arg1019Trp
|
2.5 |
|
B | ||
| 3151 | chr15 | 89305633 | T | C |
c.3284T>C
|
p.Val1095Ala
|
- | 3.0 |
|
B | |
| 31488 | chr15 | 89307496 | C | A |
c.3558C>A
|
p.Ser1186Arg
|
- | 3.0 |
|
B | |
| 30393 | chr15 | 89312935 | A | G |
c.3683A>G
-
|
p.Glu1228Gly
-
|
3.0 |
|
B | ||
| 18839 | chr15 | 89314724 | T | G |
c.3816+17T>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 11252 | chr15 | 89315264 | C | T |
c.3817-18C>T
-
|
-
-
|
2.5 |
|
B | ||
| 2074 | chr15 | 89315397 | C | G |
c.3924+8C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 11526 | chr15 | 89316450 | GA | G |
c.3984del
c.*300del
|
p.Lys1328AsnfsTer3
-
|
- | 3.5 |
|
B | |
| 34192 | chr15 | 89318953 | T | C |
-
c.3251A>G
|
-
p.Glu1084Gly
|
- | 3.0 |
|
B |