Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4909 | chr16 | 3601039 | A | G |
c.1103T>C
|
p.Leu368Pro
|
- | 3.0 |
|
B | |
| 22935 | chr16 | 3602229 | C | T |
c.839G>A
|
p.Gly280Glu
|
- | 3.0 |
|
B | |
| 19026 | chr16 | 3602272 | C | T |
c.796G>A
|
p.Ala266Thr
|
3.0 |
|
B | ||
| 16615 | chr16 | 3608505 | G | A |
c.460C>T
|
p.Arg154Trp
|
3.0 |
|
B | ||
| 18413 | chr16 | 3608723 | G | A |
c.242C>T
|
p.Ser81Leu
|
- | 3.0 |
|
B | |
| 9749 | chr16 | 3608879 | C | A |
c.86G>T
|
p.Arg29Leu
|
3.0 |
|
B | ||
| 18368 | chr16 | 3662942 | C | CGCCTGCTCTTCCGCAGCCGCCGAGTGCCTA |
c.1733_1734insTAGGCACTCGGCGGCTGCGGAAGAGCAGGC
-
|
p.Glu578delinsAspArgHisSerAlaAlaAlaGluGluGlnAla
-
|
- | 3.0 |
|
B | |
| 15071 | chr16 | 3662943 | T | G |
c.1733A>C
-
|
p.Glu578Ala
-
|
- | 3.0 |
|
B | |
| 18369 | chr16 | 3662944 | CCTTCTCTGATAGGCACTCGGCGGCTGCGGA | C |
c.1709-7_1731del
-
|
p.?
-
|
- | 3.0 |
|
B | |
| 15072 | chr16 | 3662947 | T | G |
c.1729A>C
-
|
p.Lys577Gln
-
|
- | 3.0 |
|
B | |
| 15073 | chr16 | 3662951 | T | TTCCGCAGCCGCCGAGTGCCTATCAGAGAAGGA |
c.1724_1725insTCCTTCTCTGATAGGCACTCGGCGGCTGCGGA
-
|
p.Glu576ProfsTer22
-
|
- | 3.0 |
|
B | |
| 21196 | chr16 | 3662985 | A | G |
c.1709-18T>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 31558 | chr16 | 3664278 | G | A |
c.1565C>T
|
p.Thr522Ile
|
- | 3.0 |
|
B | |
| 28254 | chr16 | 3664372 | G | A |
c.1471C>T
|
p.Arg491Trp
|
3.0 |
|
B | ||
| 15523 | chr16 | 3674416 | C | T |
c.967G>A
|
p.Asp323Asn
|
3.0 |
|
B | ||
| 35089 | chr16 | 3677529 | C | T |
c.673G>A
|
p.Gly225Arg
|
- | 3.0 |
|
B | |
| 16411 | chr16 | 3677574 | T | A |
c.628A>T
|
p.Met210Leu
|
- | 3.0 |
|
B | |
| 34867 | chr16 | 3690892 | G | A |
c.182C>T
|
p.Thr61Met
|
3.0 |
|
B | ||
| 28770 | chr16 | 3690940 | G | A |
c.134C>T
|
p.Pro45Leu
|
3.0 |
|
B | ||
| 11864 | chr16 | 3727917 | G | A |
c.7130C>T
|
p.Ser2377Leu
|
- | 3.0 |
|
B |