Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33081 | chr17 | 7670655 | CCTT | C |
c.1051_1053del
|
p.Lys351del
|
- | 3.0 |
|
B | |
| 8742 | chr17 | 7670658 | T | A |
c.1051A>T
|
p.Lys351Ter
|
- | 4.0 |
|
B | |
| 1917 | chr17 | 7670664 | C | A |
c.1045G>T
|
p.Glu349Ter
|
3.5 |
|
B | ||
| 28013 | chr17 | 7670664 | C | T |
c.1045G>A
|
p.Glu349Lys
|
3.0 |
|
B | ||
| 10213 | chr17 | 7670665 | CA | C |
c.1043del
|
p.Leu348TrpfsTer22
|
- | 3.5 |
|
B | |
| 79 | chr17 | 7670669 | G | T |
c.1040C>A
|
p.Ala347Asp
|
3.0 |
|
B | ||
| 27925 | chr17 | 7670670 | C | T |
c.1039G>A
|
p.Ala347Thr
|
3.5 |
|
B | ||
| 828 | chr17 | 7670673 | C | A |
c.1036G>T
|
p.Glu346Ter
|
4.0 |
|
B | ||
| 33104 | chr17 | 7670679 | GCT | G |
c.1028_1029del
|
p.Glu343AlafsTer3
|
- | 4.0 |
|
B | |
| 596 | chr17 | 7670684 | C | G |
c.1025G>C
|
p.Arg342Pro
|
3.5 |
|
B | ||
| 6854 | chr17 | 7670684 | CG | C |
c.1024del
|
p.Arg342GlufsTer3
|
4.5 |
|
B | ||
| 735 | chr17 | 7670685 | G | A |
c.1024C>T
|
p.Arg342Ter
|
4.5 |
|
B | ||
| 10214 | chr17 | 7670687 | A | T |
c.1022T>A
|
p.Phe341Tyr
|
- | 3.5 |
|
B | |
| 28160 | chr17 | 7670688 | A | ACTTTC |
c.1020_1021insGAAAG
|
p.Phe341GlufsTer6
|
- | 4.0 |
|
B | |
| 12541 | chr17 | 7670690 | ATC | A |
c.1017_1018del
|
p.Glu339AspfsTer7
|
- | 4.5 |
|
B | |
| 2539 | chr17 | 7670694 | C | A |
c.1015G>T
|
p.Glu339Ter
|
4.0 |
|
B | ||
| 11026 | chr17 | 7670699 | C | A |
c.1010G>T
|
p.Arg337Leu
|
4.0 |
|
B | ||
| 608 | chr17 | 7670700 | G | A |
c.1009C>T
|
p.Arg337Cys
|
3.5 |
|
B | ||
| 25170 | chr17 | 7670700 | G | C |
c.1009C>G
|
p.Arg337Gly
|
3.5 |
|
B | ||
| 20697 | chr17 | 7670703 | C | A |
c.1006G>T
|
p.Glu336Ter
|
- | 4.0 |
|
B |