Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4023 | chr17 | 7675089 | G | C |
c.523C>G
|
p.Arg175Gly
|
4.0 |
|
B | ||
| 1205 | chr17 | 7675094 | A | C |
c.518T>G
|
p.Val173Gly
|
3.5 |
|
B | ||
| 19526 | chr17 | 7675094 | AC | A |
c.517del
|
p.Val173Ter
|
- | 4.5 |
|
B | |
| 6483 | chr17 | 7675095 | C | A |
c.517G>T
|
p.Val173Leu
|
3.5 |
|
B | ||
| 75 | chr17 | 7675095 | C | T |
c.517G>A
|
p.Val173Met
|
4.0 |
|
B | ||
| 7742 | chr17 | 7675095 | CA | C |
c.516del
|
p.Val173Ter
|
- | 4.0 |
|
B | |
| 14797 | chr17 | 7675097 | AC | A |
c.514del
|
p.Val172LeufsTer2
|
- | 4.5 |
|
B | |
| 25539 | chr17 | 7675098 | C | A |
c.514G>T
|
p.Val172Phe
|
3.5 |
|
B | ||
| 12474 | chr17 | 7675099 | CTCCGTCATGTGCTGT | C |
c.498_512del
|
p.Gln167_Glu171del
|
- | 3.5 |
|
B | |
| 35029 | chr17 | 7675107 | TGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCC | T |
c.460_504del
|
p.Gly154_His168del
|
- | 3.5 |
|
B | |
| 7401 | chr17 | 7675109 | T | A |
c.503A>T
|
p.His168Leu
|
- | 3.5 |
|
B | |
| 31425 | chr17 | 7675109 | T | C |
c.503A>G
|
p.His168Arg
|
4.0 |
|
B | ||
| 443 | chr17 | 7675109 | T | G |
c.503A>C
|
p.His168Pro
|
- | 4.12 |
|
S | |
| 8682 | chr17 | 7675109 | T | TGCTG |
c.499_502dup
|
p.His168ProfsTer14
|
- | 4.0 |
|
B | |
| 9538 | chr17 | 7675110 | GC | G |
c.501del
|
p.Gln167HisfsTer3
|
3.5 |
|
B | ||
| 2201 | chr17 | 7675113 | G | A |
c.499C>T
|
p.Gln167Ter
|
4.5 |
|
B | ||
| 20482 | chr17 | 7675114 | TGACTGCTTGTAGATGGCCATGGCGCGGA | T |
c.470_497del
|
p.Val157AspfsTer4
|
- | 4.0 |
|
B | |
| 12475 | chr17 | 7675115 | G | A |
c.497C>T
|
p.Ser166Leu
|
3.0 |
|
B | ||
| 1658 | chr17 | 7675115 | G | C |
c.497C>G
|
p.Ser166Ter
|
3.5 |
|
B | ||
| 27032 | chr17 | 7675118 | TG | T |
c.493del
|
p.Gln165SerfsTer5
|
- | 4.5 |
|
B |