Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6568 | chr2 | 47800292 | G | T |
c.2309G>T
|
p.Gly770Val
|
- | 3.0 |
|
B | |
| 9013 | chr2 | 47800474 | C | T |
c.2491C>T
|
p.Pro831Ser
|
3.0 |
|
B | ||
| 32826 | chr2 | 47800556 | T | A |
c.2573T>A
|
p.Phe858Tyr
|
- | 3.0 |
|
B | |
| 12426 | chr2 | 47800616 | T | C |
c.2633T>C
|
p.Val878Ala
|
2.0 |
|
B | ||
| 8401 | chr2 | 47800734 | C | G |
c.2751C>G
|
p.Asp917Glu
|
3.0 |
|
B | ||
| 25655 | chr2 | 47800832 | G | A |
c.2849G>A
|
p.Ser950Asn
|
3.0 |
|
B | ||
| 3026 | chr2 | 47800882 | A | G |
c.2899A>G
|
p.Ile967Val
|
2.5 |
|
B | ||
| 29993 | chr2 | 47800893 | G | A |
c.2910G>A
|
p.Trp970Ter
|
4.5 |
|
B | ||
| 22828 | chr2 | 47800894 | G | A |
c.2911G>A
|
p.Gly971Arg
|
- | 3.0 |
|
B | |
| 11874 | chr2 | 47800895 | G | A |
c.2912G>A
|
p.Gly971Glu
|
3.0 |
|
B | ||
| 14912 | chr2 | 47800913 | A | G |
c.2930A>G
|
p.Tyr977Cys
|
- | 3.0 |
|
B | |
| 11185 | chr2 | 47800946 | G | A |
c.2963G>A
|
p.Arg988His
|
2.5 |
|
B | ||
| 19040 | chr2 | 47800972 | A | G |
c.2989A>G
|
p.Lys997Glu
|
3.0 |
|
B | ||
| 16690 | chr2 | 47801092 | T | C |
c.3109T>C
|
p.Phe1037Leu
|
3.0 |
|
B | ||
| 120 | chr2 | 47801124 | G | A |
c.3141G>A
|
p.Trp1047Ter
|
4.67 |
|
A | ||
| 26985 | chr2 | 47803473 | C | T |
c.3226C>T
-
|
p.Arg1076Cys
-
|
3.5 |
|
B | ||
| 17697 | chr2 | 47803476 | C | T |
c.3229C>T
-
|
p.Pro1077Ser
-
|
- | 3.0 |
|
B | |
| 9655 | chr2 | 47803496 | A | C |
c.3249A>C
-
|
p.Glu1083Asp
-
|
- | 3.0 |
|
B | |
| 150 | chr2 | 47803500 | A | AC |
c.3261dup
-
|
p.Phe1088LeufsTer5
-
|
5.0 |
|
A | ||
| 20201 | chr2 | 47803500 | A | ACC |
c.3260_3261dup
-
|
p.Phe1088ProfsTer3
-
|
4.5 |
|
B |