Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22877 | chr6 | 160069877 | C | A |
c.4262C>A
|
p.Pro1421His
|
- | 3.0 |
|
B | |
| 4232 | chr6 | 160069933 | G | A |
c.4318G>A
|
p.Val1440Ile
|
- | 3.0 |
|
B | |
| 29468 | chr6 | 160070005 | G | C |
c.4390G>C
|
p.Gly1464Arg
|
- | 3.0 |
|
B | |
| 24557 | chr6 | 160070011 | C | T |
c.4396C>T
|
p.Arg1466Trp
|
3.0 |
|
B | ||
| 22516 | chr6 | 160072780 | T | G |
c.4586T>G
|
p.Leu1529Arg
|
- | 3.0 |
|
B | |
| 9579 | chr6 | 160072806 | T | A |
c.4612T>A
|
p.Phe1538Ile
|
- | 3.0 |
|
B | |
| 21758 | chr6 | 160072854 | G | C |
c.4660G>C
|
p.Gly1554Arg
|
- | 3.0 |
|
B | |
| 31688 | chr6 | 160073213 | G | T |
c.4691G>T
|
p.Gly1564Val
|
- | 3.0 |
|
B | |
| 10198 | chr6 | 160073238 | T | G |
c.4716T>G
|
p.Ile1572Met
|
- | 3.0 |
|
B | |
| 1282 | chr6 | 160073324 | A | C |
c.4802A>C
|
p.Lys1601Thr
|
- | 3.0 |
|
B | |
| 20600 | chr6 | 160073376 | CA | C |
c.4855del
|
p.Arg1619GlyfsTer36
|
- | 3.0 |
|
B | |
| 29888 | chr6 | 160078254 | G | C |
c.5370G>C
|
p.Glu1790Asp
|
- | 3.0 |
|
B | |
| 33693 | chr6 | 160079658 | G | A |
c.5557G>A
|
p.Gly1853Arg
|
- | 3.0 |
|
B | |
| 7060 | chr6 | 160079732 | G | T |
c.5631G>T
|
p.Arg1877Ser
|
3.0 |
|
B | ||
| 5249 | chr6 | 160079763 | G | A |
c.5662G>A
|
p.Val1888Met
|
3.0 |
|
B | ||
| 6635 | chr6 | 160080227 | A | G |
c.5785A>G
|
p.Thr1929Ala
|
3.0 |
|
B | ||
| 12538 | chr6 | 160080295 | G | A |
c.5833+20G>A
|
-
|
3.0 |
|
B | ||
| 22087 | chr6 | 160083968 | C | T |
c.5852C>T
|
p.Ser1951Phe
|
- | 3.0 |
|
B | |
| 23308 | chr6 | 160089133 | A | G |
c.6347A>G
|
p.Tyr2116Cys
|
3.0 |
|
B | ||
| 10000 | chr6 | 160089177 | G | A |
c.6391G>A
|
p.Glu2131Lys
|
- | 3.0 |
|
B |