Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5137 | chr15 | 57253434 | C | T |
c.1433C>T
|
p.Ser478Leu
|
- | 3.0 |
|
B | |
| 28420 | chr15 | 57253454 | C | T |
c.1453C>T
|
p.Arg485Ter
|
3.0 |
|
B | ||
| 10453 | chr15 | 57262093 | G | C |
c.1468-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 6850 | chr15 | 57262204 | T | G |
c.1578T>G
|
p.Tyr526Ter
|
- | 3.0 |
|
B | |
| 2554 | chr15 | 57263185 | C | A |
c.1656C>A
|
p.Asn552Lys
|
- | 3.0 |
|
B | |
| 15069 | chr15 | 57273015 | TACTTTATTTTCTAGCAGTAC | T |
c.1746-14_1751del
|
p.?
|
- | 3.0 |
|
B | |
| 15070 | chr15 | 57273037 | A | C |
c.1753A>C
|
p.Asn585His
|
- | 3.0 |
|
B | |
| 20619 | chr15 | 57273151 | G | C |
c.1867G>C
|
p.Glu623Gln
|
- | 3.0 |
|
B | |
| 33344 | chr15 | 57273155 | T | G |
c.1871T>G
|
p.Leu624Arg
|
- | 3.0 |
|
B | |
| 20084 | chr15 | 57282489 | G | T |
c.2023G>T
|
p.Glu675Ter
|
- | 3.0 |
|
B | |
| 6901 | chr15 | 57282492 | GAA | G |
c.2030_2031del
|
p.Lys677SerfsTer20
|
- | 3.0 |
|
B | |
| 29803 | chr15 | 58597556 | C | T |
c.2238G>A
|
p.Met746Ile
|
- | 3.0 |
|
B | |
| 20400 | chr15 | 58610391 | C | T |
c.1931G>A
|
p.Arg644Gln
|
3.0 |
|
B | ||
| 492 | chr15 | 58610467 | A | C |
c.1855T>G
|
p.Phe619Val
|
- | 3.0 |
|
B | |
| 28767 | chr15 | 58611932 | C | A |
c.1571G>T
|
p.Cys524Phe
|
- | 3.0 |
|
B | |
| 15208 | chr15 | 58621526 | C | G |
c.1456G>C
|
p.Asp486His
|
3.0 |
|
B | ||
| 9069 | chr15 | 58621594 | C | A |
c.1388G>T
|
p.Gly463Val
|
- | 3.0 |
|
B | |
| 31023 | chr15 | 58633332 | C | CT |
c.1039dup
|
p.Ser347LysfsTer2
|
- | 3.0 |
|
B | |
| 15100 | chr15 | 58633353 | G | C |
c.1019C>G
|
p.Ser340Cys
|
- | 3.0 |
|
B | |
| 23315 | chr15 | 58640819 | C | A |
c.970G>T
|
p.Asp324Tyr
|
- | 3.0 |
|
B |