Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29705 | chr7 | 152358670 | C | T |
c.167G>A
|
p.Arg56Gln
|
2.0 |
|
B | ||
| 30408 | chr7 | 152402535 | T | G |
c.161+33091A>C
|
-
|
1.0 |
|
B | ||
| 8965 | chr7 | 152435750 | G | A |
c.37C>T
|
p.Gln13Ter
|
4.0 |
|
B | ||
| 5878 | chr7 | 152435771 | C | T |
c.16G>A
|
p.Asp6Asn
|
- | 3.0 |
|
B | |
| 17723 | chr7 | 152435782 | G | T |
c.5C>A
|
p.Ser2Ter
|
- | 4.0 |
|
B | |
| 27699 | chr7 | 152648683 | G | T |
c.802C>A
|
p.His268Asn
|
- | 3.0 |
|
B | |
| 17172 | chr7 | 152648712 | C | T |
c.773G>A
|
p.Arg258His
|
2.5 |
|
B | ||
| 15938 | chr7 | 152648968 | G | C |
c.517C>G
|
p.Leu173Val
|
3.0 |
|
B | ||
| 35440 | chr7 | 152660692 | A | AT |
c.121+8dup
|
-
|
2.0 |
|
B | ||
| 32150 | chr7 | 152660732 | AT | A |
c.89del
|
p.Asn30IlefsTer32
|
- | 3.5 |
|
B | |
| 16084 | chr7 | 152660740 | C | G |
c.82G>C
|
p.Glu28Gln
|
- | 3.0 |
|
B | |
| 19314 | chr7 | 155738387 | C | A |
c.1721C>A
|
p.Thr574Lys
|
- | 3.0 |
|
B | |
| 19315 | chr7 | 155802941 | C | A |
c.1348G>T
|
p.Glu450Ter
|
- | 3.0 |
|
B | |
| 14794 | chr7 | 155803025 | C | T |
c.1264G>A
|
p.Asp422Asn
|
- | 3.0 |
|
B | |
| 28661 | chr7 | 155803118 | C | G |
c.1171G>C
|
p.Ala391Pro
|
- | 3.0 |
|
B | |
| 16071 | chr7 | 155803204 | G | T |
c.1085C>A
|
p.Ser362Ter
|
3.0 |
|
B | ||
| 23490 | chr7 | 155803259 | C | A |
c.1030G>T
|
p.Ala344Ser
|
3.0 |
|
B | ||
| 16399 | chr7 | 155803300 | GC | G |
c.988del
|
p.Ala330ProfsTer6
|
- | 3.0 |
|
B | |
| 13759 | chr7 | 155803360 | C | T |
c.929G>A
|
p.Arg310His
|
- | 3.0 |
|
B | |
| 14790 | chr7 | 155803429 | G | T |
c.860C>A
|
p.Ala287Glu
|
3.0 |
|
B |