Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21329 | chr15 | 88137389 | C | T |
c.622+15G>A
|
-
|
3.0 |
|
B | ||
| 2928 | chr15 | 88137424 | C | T |
c.602G>A
|
p.Arg201His
|
3.0 |
|
B | ||
| 26893 | chr15 | 88137440 | G | T |
c.586C>A
|
p.Gln196Lys
|
- | 3.0 |
|
B | |
| 12607 | chr15 | 88137509 | G | A |
c.517C>T
|
p.Leu173Phe
|
- | 3.0 |
|
B | |
| 23880 | chr15 | 88137573 | G | T |
c.465-12C>A
|
-
|
- | 3.0 |
|
B | |
| 33894 | chr15 | 88147353 | G | A |
c.446C>T
|
p.Thr149Met
|
3.0 |
|
B | ||
| 7843 | chr15 | 88183481 | T | A |
c.332A>T
|
p.Lys111Met
|
- | 3.0 |
|
B | |
| 20620 | chr15 | 88183499 | G | A |
c.324-10C>T
|
-
|
3.0 |
|
B | ||
| 7490 | chr15 | 88184251 | C | T |
c.297G>A
|
p.Met99Ile
|
3.0 |
|
B | ||
| 14760 | chr15 | 88255923 | T | G |
c.231A>C
|
p.Ser77=
|
- | 3.0 |
|
B | |
| 17164 | chr15 | 88255945 | C | G |
c.209G>C
|
p.Ser70Thr
|
- | 3.0 |
|
B | |
| 7070 | chr15 | 88256113 | C | T |
c.41G>A
|
p.Arg14Gln
|
3.0 |
|
B | ||
| 13859 | chr15 | 88256138 | A | C |
c.16T>G
|
p.Cys6Gly
|
- | 3.0 |
|
B | |
| 9056 | chr15 | 89258696 | C | T |
c.85-8C>T
|
-
|
- | 3.0 |
|
B | |
| 27182 | chr15 | 89260714 | T | C |
c.159T>C
|
p.Gly53=
|
3.0 |
|
B | ||
| 5941 | chr15 | 89263956 | G | A |
c.599G>A
|
p.Ser200Asn
|
- | 3.0 |
|
B | |
| 9701 | chr15 | 89264594 | C | T |
c.742C>T
|
p.Gln248Ter
|
- | 3.0 |
|
B | |
| 15750 | chr15 | 89268493 | G | A |
c.850G>A
|
p.Glu284Lys
|
3.0 |
|
B | ||
| 9057 | chr15 | 89273464 | G | A |
c.970G>A
|
p.Asp324Asn
|
- | 3.0 |
|
B | |
| 24814 | chr15 | 89274160 | T | C |
c.976-8T>C
|
-
|
- | 3.0 |
|
B |