Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22562 | chr3 | 136521386 | C | A |
c.503G>T
|
p.Gly168Val
|
- | 3.0 |
|
B | |
| 25416 | chr3 | 136568823 | G | A |
c.336C>T
|
p.Asp112=
|
- | 3.0 |
|
B | |
| 22022 | chr3 | 136586839 | T | C |
c.297+17470A>G
|
-
|
3.0 |
|
B | ||
| 21027 | chr3 | 136586932 | G | A |
c.297+17377C>T
|
-
|
- | 3.0 |
|
B | |
| 34007 | chr3 | 136604338 | C | A |
c.268G>T
|
p.Val90Leu
|
- | 3.0 |
|
B | |
| 23627 | chr3 | 136604442 | C | A |
c.164G>T
|
p.Gly55Val
|
- | 3.0 |
|
B | |
| 20851 | chr3 | 136630852 | G | T |
c.29+18C>A
|
-
|
3.0 |
|
B | ||
| 25989 | chr3 | 136630886 | C | G |
c.13G>C
|
p.Glu5Gln
|
3.0 |
|
B | ||
| 19421 | chr3 | 136854643 | GA | G |
c.192del
|
p.Arg66GlufsTer18
|
3.0 |
|
B | ||
| 30510 | chr3 | 137998981 | AC | A |
c.117del
|
p.Val40Ter
|
- | 3.0 |
|
B | |
| 7320 | chr3 | 138010292 | G | GATGCAGC |
c.67_68insATGCAGC
|
p.Ala23AspfsTer126
|
- | 3.0 |
|
B | |
| 16544 | chr3 | 138010301 | G | A |
c.76G>A
|
p.Gly26Arg
|
3.0 |
|
B | ||
| 15862 | chr3 | 138024658 | A | C |
c.437A>C
|
p.Asn146Thr
|
- | 3.0 |
|
B | |
| 26665 | chr3 | 138024690 | G | A |
c.469G>A
|
p.Gly157Ser
|
3.0 |
|
B | ||
| 18776 | chr3 | 138031063 | A | T |
c.708A>T
|
p.Lys236Asn
|
- | 3.0 |
|
B | |
| 4353 | chr3 | 138500396 | C | G |
c.1537+3G>C
|
-
|
- | 3.0 |
|
B | |
| 26796 | chr3 | 138655456 | A | C |
c.3146T>G
|
p.Leu1049Arg
|
- | 3.0 |
|
B | |
| 6276 | chr3 | 138655496 | C | T |
c.3106G>A
|
p.Glu1036Lys
|
- | 3.0 |
|
B | |
| 18264 | chr3 | 138656159 | C | G |
c.3058G>C
|
p.Asp1020His
|
- | 3.0 |
|
B | |
| 6277 | chr3 | 138656255 | C | T |
c.2962G>A
|
p.Asp988Asn
|
- | 3.0 |
|
B |