Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16613 | chr15 | 43421903 | G | A |
c.4052C>T
|
p.Pro1351Leu
|
- | 3.0 |
|
B | |
| 22168 | chr15 | 43421975 | G | C |
c.3980C>G
|
p.Ser1327Ter
|
- | 3.5 |
|
B | |
| 26343 | chr15 | 43422126 | C | T |
c.3829G>A
|
p.Glu1277Lys
|
- | 3.0 |
|
B | |
| 2846 | chr15 | 43428160 | T | G |
c.3684A>C
|
p.Glu1228Asp
|
- | 3.0 |
|
B | |
| 18653 | chr15 | 43432259 | C | A |
c.3610G>T
|
p.Glu1204Ter
|
- | 4.0 |
|
B | |
| 20908 | chr15 | 43432439 | G | A |
c.3430C>T
|
p.Pro1144Ser
|
- | 3.0 |
|
B | |
| 15423 | chr15 | 43432459 | C | A |
c.3410G>T
|
p.Arg1137Leu
|
- | 3.0 |
|
B | |
| 31570 | chr15 | 43432662 | GTGGAGCAAGT | G |
c.3197_3206del
|
p.Asn1066ThrfsTer27
|
- | 4.0 |
|
B | |
| 34227 | chr15 | 43446383 | T | G |
c.3040+4A>C
|
-
|
- | 3.0 |
|
B | |
| 24221 | chr15 | 43446465 | C | T |
c.2962G>A
|
p.Asp988Asn
|
3.0 |
|
B | ||
| 15892 | chr15 | 43446515 | G | A |
c.2912C>T
|
p.Pro971Leu
|
- | 3.0 |
|
B | |
| 3869 | chr15 | 43447407 | C | T |
c.2795G>A
|
p.Gly932Glu
|
3.5 |
|
B | ||
| 25604 | chr15 | 43447419 | G | A |
c.2783C>T
|
p.Pro928Leu
|
3.0 |
|
B | ||
| 25303 | chr15 | 43456017 | GT | G |
c.2590del
|
p.Thr864GlnfsTer5
|
- | 4.0 |
|
B | |
| 34091 | chr15 | 43456236 | G | A |
c.2372C>T
|
p.Ser791Leu
|
3.0 |
|
B | ||
| 5012 | chr15 | 43456531 | G | A |
c.2077C>T
|
p.Pro693Ser
|
3.0 |
|
B | ||
| 4268 | chr15 | 43456875 | T | G |
c.1733A>C
|
p.Gln578Pro
|
- | 3.0 |
|
B | |
| 10316 | chr15 | 43457094 | G | A |
c.1514C>T
|
p.Ser505Phe
|
- | 3.0 |
|
B | |
| 14351 | chr15 | 43457115 | G | A |
c.1493C>T
|
p.Ser498Leu
|
- | 3.0 |
|
B | |
| 24023 | chr15 | 43469919 | T | G |
c.1328A>C
|
p.Gln443Pro
|
- | 3.0 |
|
B |