Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19135 | chr8 | 32763857 | A | G |
c.1378A>G
|
p.Thr460Ala
|
3.0 |
|
B | ||
| 27762 | chr8 | 32763879 | C | T |
c.1400C>T
|
p.Ala467Val
|
3.0 |
|
B | ||
| 15707 | chr8 | 32763920 | G | A |
c.1441G>A
|
p.Val481Met
|
3.0 |
|
B | ||
| 19522 | chr8 | 32763938 | C | T |
c.1459C>T
|
p.Arg487Trp
|
3.0 |
|
B | ||
| 28272 | chr8 | 32763978 | C | T |
c.1499C>T
|
p.Ser500Phe
|
- | 3.0 |
|
B | |
| 33729 | chr8 | 32763996 | C | T |
c.1517C>T
|
p.Ala506Val
|
3.0 |
|
B | ||
| 16971 | chr8 | 32764023 | G | T |
c.1544G>T
|
p.Ser515Ile
|
- | 3.0 |
|
B | |
| 17580 | chr8 | 32764122 | A | T |
c.1643A>T
|
p.Lys548Ile
|
- | 3.0 |
|
B | |
| 1876 | chr8 | 32764159 | G | T |
c.1680G>T
|
p.Leu560Phe
|
- | 3.0 |
|
B | |
| 32235 | chr8 | 32764236 | C | T |
c.1757C>T
|
p.Thr586Met
|
3.0 |
|
B | ||
| 9296 | chr8 | 32764259 | C | T |
c.1780C>T
|
p.Pro594Ser
|
- | 3.0 |
|
B | |
| 22004 | chr8 | 32764305 | A | C |
c.1826A>C
|
p.Asp609Ala
|
- | 3.0 |
|
B | |
| 7936 | chr8 | 37695999 | G | T |
c.20G>T
|
p.Gly7Val
|
3.0 |
|
B | ||
| 23181 | chr8 | 37696022 | AGCAGCG | A |
c.58_63del
|
p.Ser20_Gly21del
|
3.0 |
|
B | ||
| 15091 | chr8 | 37696063 | G | T |
c.84G>T
|
p.Ala28=
|
- | 3.0 |
|
B | |
| 15192 | chr8 | 37696097 | G | A |
c.118G>A
|
p.Asp40Asn
|
- | 3.0 |
|
B | |
| 9130 | chr8 | 37697136 | C | G |
c.244-9C>G
|
-
|
3.0 |
|
B | ||
| 34129 | chr8 | 37697200 | G | A |
c.299G>A
|
p.Gly100Asp
|
- | 3.0 |
|
B | |
| 11883 | chr8 | 37697218 | C | T |
c.317C>T
|
p.Pro106Leu
|
- | 3.0 |
|
B | |
| 8642 | chr8 | 37697434 | C | T |
c.533C>T
|
p.Thr178Ile
|
- | 3.0 |
|
B |