Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3841 | chr10 | 110964570 | C | G |
c.212C>G
|
p.Thr71Arg
|
- | 3.0 |
|
B | |
| 10459 | chr10 | 110964653 | G | T |
c.295G>T
|
p.Glu99Ter
|
- | 3.0 |
|
B | |
| 2053 | chr10 | 110964710 | T | A |
c.352T>A
|
p.Ser118Thr
|
- | 3.0 |
|
B | |
| 1478 | chr10 | 110964903 | G | C |
c.545G>C
|
p.Arg182Thr
|
- | 3.0 |
|
B | |
| 19643 | chr10 | 111004593 | AT | A |
c.973-5del
|
-
|
1.5 |
|
B | ||
| 17480 | chr10 | 111004747 | T | A |
c.1114T>A
|
p.Phe372Ile
|
- | 3.0 |
|
B | |
| 4416 | chr10 | 111004748 | T | A |
c.1115T>A
|
p.Phe372Tyr
|
- | 3.0 |
|
B | |
| 31844 | chr10 | 111009255 | TC | T |
c.1293del
|
p.Leu432TyrfsTer6
|
- | 3.0 |
|
B | |
| 8516 | chr10 | 111009284 | C | T |
c.1321C>T
|
p.Pro441Ser
|
3.0 |
|
B | ||
| 32401 | chr10 | 112668219 | G | T |
c.429G>T
|
p.Glu143Asp
|
- | 3.0 |
|
B | |
| 27702 | chr10 | 112736767 | A | C |
c.560+67769A>C
|
-
|
- | 3.0 |
|
B | |
| 29945 | chr10 | 112815362 | TTTTTCTGTCAGAAGAC | T |
c.634_649del
|
p.Phe212ThrfsTer8
|
- | 3.0 |
|
B | |
| 13899 | chr10 | 112950748 | GA | G |
c.1del
|
p.Met1?
|
3.5 |
|
B | ||
| 4070 | chr10 | 112950835 | CAGG | C |
c.85_87del
|
p.Glu29del
|
3.0 |
|
B | ||
| 6113 | chr10 | 112950866 | CAG | C |
c.115_116del
|
p.Arg39GlyfsTer4
|
- | 3.5 |
|
B | |
| 7431 | chr10 | 112950961 | C | T |
c.189+16C>T
|
-
|
3.0 |
|
B | ||
| 18239 | chr10 | 112951228 | C | T |
c.211C>T
|
p.Arg71Cys
|
- | 3.0 |
|
B | |
| 22901 | chr10 | 112951485 | G | A |
c.259G>A
|
p.Ala87Thr
|
- | 3.0 |
|
B | |
| 6806 | chr10 | 112951564 | GC | G |
c.342del
|
p.Tyr115ThrfsTer40
|
- | 3.5 |
|
B | |
| 3806 | chr10 | 113040034 | A | ATT |
c.461_462insTT
|
p.Met154IlefsTer2
|
- | 3.5 |
|
B |