Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6821 | chr3 | 142515512 | G | C |
c.4386C>G
|
p.Tyr1462Ter
|
4.0 |
|
B | ||
| 1572 | chr3 | 142519783 | TC | T |
c.4267del
|
p.Glu1423SerfsTer32
|
- | 4.0 |
|
B | |
| 12486 | chr3 | 142524043 | G | A |
c.4102C>T
|
p.Arg1368Ter
|
4.5 |
|
B | ||
| 23388 | chr3 | 142535067 | C | T |
c.3945+13G>A
|
-
|
- | 3.0 |
|
B | |
| 17259 | chr3 | 142535127 | G | A |
c.3898C>T
|
p.Arg1300Cys
|
3.0 |
|
B | ||
| 20730 | chr3 | 142535158 | C | T |
c.3867G>A
|
p.Met1289Ile
|
- | 3.0 |
|
B | |
| 21784 | chr3 | 142536143 | T | C |
c.3784A>G
|
p.Lys1262Glu
|
- | 3.0 |
|
B | |
| 23682 | chr3 | 142540941 | G | C |
c.3544C>G
|
p.Leu1182Val
|
- | 3.0 |
|
B | |
| 5361 | chr3 | 142540982 | C | T |
c.3503G>A
|
p.Ser1168Asn
|
3.0 |
|
B | ||
| 8344 | chr3 | 142542712 | TA | T |
c.3402del
|
p.Phe1134LeufsTer6
|
4.0 |
|
B | ||
| 14918 | chr3 | 142549669 | G | A |
c.2981C>T
|
p.Thr994Ile
|
- | 3.0 |
|
B | |
| 14919 | chr3 | 142550230 | G | A |
c.2878C>T
|
p.Arg960Ter
|
- | 4.0 |
|
B | |
| 10913 | chr3 | 142550259 | G | A |
c.2849C>T
|
p.Pro950Leu
|
3.5 |
|
B | ||
| 9926 | chr3 | 142550306 | G | C |
c.2806-4C>G
|
-
|
2.5 |
|
B | ||
| 10552 | chr3 | 142553214 | C | T |
c.2805+13G>A
|
-
|
2.5 |
|
B | ||
| 1683 | chr3 | 142553325 | C | A |
c.2707G>T
|
p.Val903Phe
|
- | 3.0 |
|
B | |
| 17699 | chr3 | 142553914 | C | T |
c.2443G>A
|
p.Asp815Asn
|
- | 3.0 |
|
B | |
| 16227 | chr3 | 142553994 | T | A |
c.2363A>T
|
p.His788Leu
|
- | 3.0 |
|
B | |
| 224 | chr3 | 142555896 | TA | T |
c.2321del
|
p.Ile774AsnfsTer5
|
- | 4.5 |
|
B | |
| 19051 | chr3 | 142555897 | A | AT |
c.2320dup
|
p.Ile774AsnfsTer3
|
5.0 |
|
B |