Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 726 | chr6 | 161049048 | G | A |
c.776G>A
|
p.Arg259Gln
|
- | 3.0 |
|
B | |
| 9101 | chr6 | 161049113 | G | A |
c.841G>A
|
p.Asp281Asn
|
- | 3.0 |
|
B | |
| 31105 | chr6 | 161049134 | CGT | C |
c.863_864del
|
p.Arg288ProfsTer8
|
- | 3.0 |
|
B | |
| 15769 | chr6 | 161049338 | C | T |
c.1066C>T
|
p.Arg356Trp
|
3.0 |
|
B | ||
| 23380 | chr6 | 161049662 | G | C |
c.1390G>C
|
p.Glu464Gln
|
3.0 |
|
B | ||
| 24075 | chr6 | 161049719 | G | A |
c.1447G>A
|
p.Asp483Asn
|
3.0 |
|
B | ||
| 9383 | chr6 | 161049830 | C | G |
c.1558C>G
|
p.His520Asp
|
- | 3.0 |
|
B | |
| 13024 | chr6 | 161073493 | A | T |
c.1978A>T
|
p.Lys660Ter
|
- | 3.0 |
|
B | |
| 22879 | chr6 | 161086361 | C | T |
c.2373-18C>T
|
-
|
- | 3.0 |
|
B | |
| 20661 | chr6 | 161087830 | A | G |
c.2699A>G
|
p.Tyr900Cys
|
3.0 |
|
B | ||
| 18448 | chr6 | 161091370 | A | G |
c.2974-9A>G
|
-
|
- | 3.0 |
|
B | |
| 20016 | chr6 | 161093766 | T | G |
c.3349-7T>G
|
-
|
- | 3.0 |
|
B | |
| 2672 | chr6 | 161097101 | G | A |
c.3449G>A
|
p.Arg1150His
|
3.0 |
|
B | ||
| 16741 | chr6 | 161097112 | G | A |
c.3460G>A
|
p.Val1154Ile
|
3.0 |
|
B | ||
| 33458 | chr6 | 161098385 | ACT | A |
c.3635_3636del
|
p.Ser1212CysfsTer11
|
- | 3.0 |
|
B | |
| 12815 | chr6 | 161101905 | C | T |
c.3688C>T
|
p.Pro1230Ser
|
- | 3.0 |
|
B | |
| 15416 | chr6 | 161101950 | A | G |
c.3733A>G
|
p.Arg1245Gly
|
- | 3.0 |
|
B | |
| 7935 | chr6 | 161101962 | C | T |
c.3745C>T
|
p.Arg1249Cys
|
- | 3.0 |
|
B | |
| 6217 | chr6 | 161106532 | G | C |
c.3875G>C
|
p.Gly1292Ala
|
- | 3.0 |
|
B | |
| 23309 | chr6 | 161107986 | C | G |
c.4119+17C>G
|
-
|
- | 3.0 |
|
B |