Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1141 | chr16 | 2061961 | C | T |
c.1210C>T
|
p.Gln404Ter
|
4.0 |
|
B | ||
| 4891 | chr16 | 2062598 | C | T |
c.1359C>T
|
p.Phe453=
|
- | 3.0 |
|
B | |
| 17458 | chr16 | 2062618 | GC | G |
c.1361+20del
|
-
|
- | 3.0 |
|
B | |
| 2581 | chr16 | 2062982 | C | T |
c.1372C>T
|
p.Arg458Ter
|
4.5 |
|
B | ||
| 35445 | chr16 | 2063057 | C | T |
c.1443+4C>T
|
-
|
2.0 |
|
B | ||
| 21542 | chr16 | 2064294 | T | C |
c.1466T>C
|
p.Val489Ala
|
3.0 |
|
B | ||
| 19926 | chr16 | 2064424 | G | T |
c.1596G>T
|
p.Glu532Asp
|
- | 3.0 |
|
B | |
| 10815 | chr16 | 2070469 | C | T |
c.1730C>T
|
p.Thr577Ile
|
2.5 |
|
B | ||
| 34780 | chr16 | 2071541 | A | C |
c.1871A>C
|
p.Asp624Ala
|
- | 3.0 |
|
B | |
| 19754 | chr16 | 2071621 | G | A |
c.1946+5G>A
|
-
|
2.0 |
|
B | ||
| 14967 | chr16 | 2071626 | A | G |
c.1946+10A>G
|
-
|
- | 3.5 |
|
B | |
| 5913 | chr16 | 2071829 | T | TCCTCCCACAGGGCACATTG |
c.2005_2006insACATTGCCTCCCACAGGGC
|
p.Pro669HisfsTer40
|
- | 4.0 |
|
B | |
| 17375 | chr16 | 2071867 | C | T |
c.2030C>T
|
p.Pro677Leu
|
2.0 |
|
B | ||
| 19101 | chr16 | 2072224 | G | A |
c.2098-17G>A
|
-
|
2.0 |
|
B | ||
| 22207 | chr16 | 2072347 | C | G |
c.2204C>G
|
p.Ser735Cys
|
- | 3.0 |
|
B | |
| 16159 | chr16 | 2072370 | T | G |
c.2220+7T>G
|
-
|
3.0 |
|
B | ||
| 21543 | chr16 | 2072835 | G | A |
c.2221-14G>A
|
-
|
- | 3.0 |
|
B | |
| 10644 | chr16 | 2072873 | C | T |
c.2245C>T
|
p.Arg749Trp
|
2.0 |
|
B | ||
| 14968 | chr16 | 2072877 | T | C |
c.2249T>C
|
p.Leu750Pro
|
- | 3.0 |
|
B | |
| 6969 | chr16 | 2072880 | G | A |
c.2252G>A
|
p.Arg751Gln
|
2.5 |
|
B |