Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32786 | chr10 | 87933124 | T | G |
c.365T>G
|
p.Ile122Ser
|
3.5 |
|
B | ||
| 50 | chr10 | 87933127 | A | G |
c.368A>G
|
p.His123Arg
|
4.0 |
|
B | ||
| 380 | chr10 | 87933128 | C | A |
c.369C>A
|
p.His123Gln
|
- | 4.0 |
|
A | |
| 11679 | chr10 | 87933129 | T | G |
c.370T>G
|
p.Cys124Gly
|
3.5 |
|
B | ||
| 33582 | chr10 | 87933130 | G | A |
c.371G>A
|
p.Cys124Tyr
|
3.5 |
|
B | ||
| 10503 | chr10 | 87933131 | T | TAA |
c.374_375dup
|
p.Ala126LysfsTer9
|
- | 4.0 |
|
B | |
| 2649 | chr10 | 87933138 | G | A |
c.379G>A
|
p.Gly127Arg
|
3.5 |
|
B | ||
| 17151 | chr10 | 87933138 | G | T |
c.379G>T
|
p.Gly127Ter
|
4.5 |
|
B | ||
| 381 | chr10 | 87933139 | G | A |
c.380G>A
|
p.Gly127Glu
|
4.33 |
|
A | ||
| 17836 | chr10 | 87933145 | G | A |
c.386G>A
|
p.Gly129Glu
|
4.0 |
|
B | ||
| 19637 | chr10 | 87933146 | AC | A |
c.388del
|
p.Arg130GlufsTer4
|
- | 4.5 |
|
B | |
| 1189 | chr10 | 87933147 | C | G |
c.388C>G
|
p.Arg130Gly
|
4.0 |
|
B | ||
| 382 | chr10 | 87933147 | C | T |
c.388C>T
|
p.Arg130Ter
|
4.67 |
|
A | ||
| 383 | chr10 | 87933147 | CG | C |
c.389del
|
p.Arg130GlnfsTer4
|
4.67 |
|
A | ||
| 48 | chr10 | 87933148 | G | A |
c.389G>A
|
p.Arg130Gln
|
4.33 |
|
A | ||
| 2951 | chr10 | 87933148 | G | T |
c.389G>T
|
p.Arg130Leu
|
3.5 |
|
B | ||
| 32205 | chr10 | 87933150 | A | C |
c.391A>C
|
p.Thr131Pro
|
- | 3.5 |
|
B | |
| 49 | chr10 | 87933151 | C | T |
c.392C>T
|
p.Thr131Ile
|
4.0 |
|
B | ||
| 8856 | chr10 | 87933153 | G | A |
c.394G>A
|
p.Gly132Ser
|
3.5 |
|
B | ||
| 384 | chr10 | 87933154 | G | A |
c.395G>A
|
p.Gly132Asp
|
4.33 |
|
A |