Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20103 | chr15 | 64675047 | CA | C |
c.2201del
|
p.Lys734ArgfsTer12
|
3.0 |
|
B | ||
| 3700 | chr15 | 64824355 | C | T |
c.-19-1G>A
|
p.?
|
3.0 |
|
B | ||
| 14966 | chr15 | 66387368 | G | A |
c.21G>A
|
p.Thr7=
|
3.0 |
|
B | ||
| 32749 | chr15 | 66435076 | G | A |
c.130G>A
|
p.Glu44Lys
|
- | 3.0 |
|
B | |
| 14043 | chr15 | 66435103 | T | A |
c.157T>A
|
p.Phe53Ile
|
4.5 |
|
B | ||
| 27181 | chr15 | 66435115 | A | G |
c.169A>G
|
p.Lys57Glu
|
4.0 |
|
B | ||
| 8059 | chr15 | 66435116 | A | C |
c.170A>C
|
p.Lys57Thr
|
4.0 |
|
B | ||
| 23743 | chr15 | 66435117 | G | T |
c.171G>T
|
p.Lys57Asn
|
4.0 |
|
B | ||
| 4208 | chr15 | 66435117 | GCAGAAGGTGGGAGAA | G |
c.173_187del
|
p.Gln58_Glu62del
|
- | 4.0 |
|
B | |
| 17046 | chr15 | 66435120 | G | C |
c.174G>C
|
p.Gln58His
|
- | 3.0 |
|
B | |
| 25025 | chr15 | 66435203 | C | T |
c.257C>T
|
p.Ser86Phe
|
- | 3.0 |
|
B | |
| 24198 | chr15 | 66443272 | G | T |
c.439-8G>T
|
-
|
2.0 |
|
B | ||
| 35350 | chr15 | 66443320 | G | T |
c.479G>T
|
p.Arg160Ile
|
- | 3.0 |
|
B | |
| 26148 | chr15 | 66443353 | T | A |
c.512T>A
|
p.Ile171Asn
|
- | 3.0 |
|
B | |
| 29804 | chr15 | 66444654 | AG | A |
c.517del
|
p.Val173Ter
|
- | 3.0 |
|
B | |
| 1731 | chr15 | 66444695 | A | G |
c.556A>G
|
p.Ile186Val
|
- | 3.0 |
|
B | |
| 19099 | chr15 | 66481879 | G | A |
c.693G>A
|
p.Ser231=
|
3.0 |
|
B | ||
| 34191 | chr15 | 66484990 | C | G |
c.694C>G
|
p.Pro232Ala
|
- | 3.0 |
|
B | |
| 4438 | chr15 | 66487233 | G | A |
c.901G>A
|
p.Gly301Arg
|
3.0 |
|
B | ||
| 6080 | chr15 | 66487288 | A | T |
c.956A>T
|
p.Asn319Ile
|
- | 3.0 |
|
B |