Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2827 | chr17 | 7675119 | G | A |
c.493C>T
|
p.Gln165Ter
|
5.0 |
|
B | ||
| 19928 | chr17 | 7675120 | C | A |
c.492G>T
|
p.Lys164Asn
|
- | 3.5 |
|
B | |
| 1423 | chr17 | 7675122 | T | A |
c.490A>T
|
p.Lys164Ter
|
4.0 |
|
B | ||
| 23707 | chr17 | 7675122 | T | C |
c.490A>G
|
p.Lys164Glu
|
3.67 |
|
A | ||
| 2513 | chr17 | 7675123 | G | T |
c.489C>A
|
p.Tyr163Ter
|
- | 4.0 |
|
B | |
| 1928 | chr17 | 7675124 | T | C |
c.488A>G
|
p.Tyr163Cys
|
4.0 |
|
B | ||
| 8002 | chr17 | 7675125 | A | C |
c.487T>G
|
p.Tyr163Asp
|
3.5 |
|
B | ||
| 13174 | chr17 | 7675126 | GA | G |
c.485del
|
p.Ile162ThrfsTer8
|
- | 5.0 |
|
B | |
| 81 | chr17 | 7675128 | T | A |
c.484A>T
|
p.Ile162Phe
|
3.5 |
|
B | ||
| 3196 | chr17 | 7675131 | C | T |
c.481G>A
|
p.Ala161Thr
|
3.5 |
|
B | ||
| 1245 | chr17 | 7675136 | G | A |
c.476C>T
|
p.Ala159Val
|
4.0 |
|
B | ||
| 2117 | chr17 | 7675137 | C | G |
c.475G>C
|
p.Ala159Pro
|
3.5 |
|
B | ||
| 7651 | chr17 | 7675139 | C | A |
c.473G>T
|
p.Arg158Leu
|
4.0 |
|
B | ||
| 4135 | chr17 | 7675139 | C | G |
c.473G>C
|
p.Arg158Pro
|
4.0 |
|
B | ||
| 8368 | chr17 | 7675139 | C | T |
c.473G>A
|
p.Arg158His
|
4.0 |
|
B | ||
| 24732 | chr17 | 7675140 | G | C |
c.472C>G
|
p.Arg158Gly
|
3.5 |
|
B | ||
| 23187 | chr17 | 7675140 | G | T |
c.472C>A
|
p.Arg158Ser
|
- | 4.0 |
|
B | |
| 35500 | chr17 | 7675142 | A | C |
c.470T>G
|
p.Val157Gly
|
3.0 |
|
B | ||
| 1134 | chr17 | 7675143 | C | A |
c.469G>T
|
p.Val157Phe
|
3.5 |
|
B | ||
| 25399 | chr17 | 7675143 | C | G |
c.469G>C
|
p.Val157Leu
|
- | 3.0 |
|
B |