Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17473 | chr3 | 142469327 | A | G |
c.6552+10T>C
|
-
|
- | 3.0 |
|
B | |
| 17474 | chr3 | 142469328 | C | G |
c.6552+9G>C
|
-
|
- | 3.0 |
|
B | |
| 17475 | chr3 | 142469329 | C | T |
c.6552+8G>A
|
-
|
- | 3.0 |
|
B | |
| 33390 | chr3 | 142469398 | A | C |
c.6491T>G
|
p.Ile2164Arg
|
- | 3.0 |
|
B | |
| 16146 | chr3 | 142469405 | C | T |
c.6484G>A
|
p.Glu2162Lys
|
- | 3.5 |
|
B | |
| 3787 | chr3 | 142469472 | CA | C |
c.6416del
|
p.Leu2139Ter
|
- | 4.0 |
|
B | |
| 18986 | chr3 | 142469480 | G | C |
c.6409C>G
|
p.Gln2137Glu
|
- | 3.0 |
|
B | |
| 29312 | chr3 | 142469503 | T | C |
c.6386A>G
|
p.His2129Arg
|
3.0 |
|
B | ||
| 12808 | chr3 | 142470152 | G | A |
c.6253C>T
|
p.Gln2085Ter
|
- | 4.0 |
|
B | |
| 13771 | chr3 | 142485168 | T | G |
c.6193A>C
|
p.Ile2065Leu
|
- | 3.0 |
|
B | |
| 29385 | chr3 | 142485300 | G | A |
c.6079-18C>T
|
-
|
3.0 |
|
B | ||
| 12519 | chr3 | 142493184 | A | C |
c.6026T>G
|
p.Phe2009Cys
|
- | 3.0 |
|
B | |
| 8599 | chr3 | 142493225 | G | C |
c.5985C>G
|
p.Asn1995Lys
|
3.0 |
|
B | ||
| 27967 | chr3 | 142493275 | CT | C |
c.5934del
|
p.Gly1979ValfsTer19
|
- | 4.0 |
|
B | |
| 13835 | chr3 | 142493287 | C | T |
c.5923G>A
|
p.Val1975Ile
|
- | 3.0 |
|
B | |
| 11298 | chr3 | 142493297 | C | A |
c.5913G>T
|
p.Gln1971His
|
- | 3.0 |
|
B | |
| 21924 | chr3 | 142493328 | A | T |
c.5899-17T>A
|
-
|
- | 3.0 |
|
B | |
| 1093 | chr3 | 142496423 | T | A |
c.5836A>T
|
p.Asn1946Tyr
|
- | 3.0 |
|
B | |
| 6633 | chr3 | 142496523 | AAAGGAAGT | A |
c.5739-11_5739-4del
|
-
|
2.5 |
|
B | ||
| 20540 | chr3 | 142496534 | C | A |
c.5739-14G>T
|
-
|
3.0 |
|
B |