Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3303 | chr4 | 186600038 | G | A |
c.11963C>T
|
p.Pro3988Leu
|
3.0 |
|
B | ||
| 3074 | chr4 | 186600069 | C | A |
c.11932G>T
|
p.Asp3978Tyr
|
3.0 |
|
B | ||
| 19304 | chr4 | 186601262 | A | G |
c.11640+7T>C
|
-
|
3.0 |
|
B | ||
| 34172 | chr4 | 186601301 | ACATGACAACCGCATG | A |
c.11593_11607del
|
p.His3865_Met3869del
|
- | 3.0 |
|
B | |
| 19969 | chr4 | 186601362 | G | GT |
c.11546dup
|
p.Asn3849LysfsTer27
|
- | 4.0 |
|
B | |
| 7884 | chr4 | 186602923 | CCG | C |
c.11460_11461del
|
p.Ser3820ArgfsTer28
|
- | 4.0 |
|
B | |
| 33904 | chr4 | 186602955 | C | T |
c.11430G>A
|
p.Trp3810Ter
|
4.0 |
|
B | ||
| 20731 | chr4 | 186602956 | C | T |
c.11429G>A
|
p.Trp3810Ter
|
- | 4.0 |
|
B | |
| 1076 | chr4 | 186602984 | C | T |
c.11401G>A
|
p.Glu3801Lys
|
3.0 |
|
B | ||
| 7827 | chr4 | 186603291 | C | T |
c.11235G>A
|
p.Trp3745Ter
|
- | 4.0 |
|
B | |
| 31020 | chr4 | 186603298 | C | A |
c.11228G>T
|
p.Cys3743Phe
|
- | 3.0 |
|
B | |
| 2892 | chr4 | 186603544 | C | T |
c.10982G>A
|
p.Arg3661His
|
3.0 |
|
B | ||
| 18705 | chr4 | 186603735 | G | GC |
c.10790dup
|
p.Lys3598GlnfsTer61
|
- | 4.0 |
|
B | |
| 12069 | chr4 | 186604540 | AGCTGCAGCAC | A |
c.10375_10384del
|
p.Val3459TrpfsTer2
|
- | 4.0 |
|
B | |
| 24215 | chr4 | 186609271 | G | C |
c.10118C>G
|
p.Ser3373Ter
|
- | 4.0 |
|
B | |
| 24216 | chr4 | 186609818 | C | G |
c.10051G>C
|
p.Glu3351Gln
|
3.0 |
|
B | ||
| 24444 | chr4 | 186610012 | GC | G |
c.9856del
|
p.Ala3286ProfsTer18
|
- | 4.0 |
|
B | |
| 22294 | chr4 | 186610018 | G | A |
c.9854-3C>T
|
-
|
- | 3.0 |
|
B | |
| 27414 | chr4 | 186611387 | T | C |
c.9852A>G
|
p.Thr3284=
|
3.5 |
|
B | ||
| 32744 | chr4 | 186611440 | A | T |
c.9799T>A
|
p.Tyr3267Asn
|
- | 3.0 |
|
B |