Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20641 | chr8 | 22690774 | C | T |
c.863G>A
|
p.Arg288His
|
- | 3.0 |
|
B | |
| 9904 | chr8 | 22690861 | C | A |
c.776G>T
|
p.Arg259Leu
|
- | 3.0 |
|
B | |
| 12061 | chr8 | 22690899 | C | T |
c.738G>A
|
p.Leu246=
|
3.0 |
|
B | ||
| 19937 | chr8 | 22691187 | G | A |
c.450C>T
|
p.Cys150=
|
3.0 |
|
B | ||
| 13148 | chr8 | 22691195 | A | C |
c.442T>G
|
p.Ser148Ala
|
- | 3.0 |
|
B | |
| 8183 | chr8 | 22691235 | C | A |
c.402G>T
|
p.Gln134His
|
- | 3.0 |
|
B | |
| 26427 | chr8 | 22691451 | C | T |
c.186G>A
|
p.Glu62=
|
- | 3.0 |
|
B | |
| 2521 | chr8 | 22692820 | G | A |
c.125C>T
|
p.Ser42Leu
|
3.0 |
|
B | ||
| 7044 | chr8 | 22692829 | C | T |
c.116G>A
|
p.Ser39Asn
|
- | 3.0 |
|
B | |
| 927 | chr8 | 22692844 | T | C |
c.101A>G
|
p.Asn34Ser
|
- | 3.0 |
|
B | |
| 3422 | chr8 | 23249274 | G | A |
c.364G>A
|
p.Gly122Arg
|
- | 3.0 |
|
B | |
| 22750 | chr8 | 23681367 | C | G |
c.559G>C
|
p.Glu187Gln
|
- | 3.0 |
|
B | |
| 35388 | chr8 | 23681393 | T | C |
c.533A>G
|
p.Lys178Arg
|
- | 3.0 |
|
B | |
| 33815 | chr8 | 23681400 | G | A |
c.526C>T
|
p.Arg176Cys
|
- | 3.0 |
|
B | |
| 20454 | chr8 | 23681413 | C | A |
c.513G>T
|
p.Trp171Cys
|
- | 3.0 |
|
B | |
| 27019 | chr8 | 23682716 | T | TGGCTCC |
c.168_173dup
|
p.Pro62_Glu63dup
|
3.0 |
|
B | ||
| 13681 | chr8 | 23682724 | G | T |
c.166C>A
|
p.Pro56Thr
|
- | 3.0 |
|
B | |
| 9412 | chr8 | 23854553 | GT | G |
c.-31del
|
-
|
3.0 |
|
B | ||
| 20230 | chr8 | 23854553 | GTT | G |
c.-32_-31del
|
-
|
3.0 |
|
B | ||
| 5186 | chr8 | 25411274 | T | TAGGGATGCCAG |
c.5590_5591insGGGATGCCAGA
|
p.Thr1864ArgfsTer44
|
- | 3.0 |
|
B |