Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1264 | chr17 | 7674893 | C | T |
c.638G>A
|
p.Arg213Gln
|
4.0 |
|
B | ||
| 763 | chr17 | 7674894 | G | A |
c.637C>T
|
p.Arg213Ter
|
4.5 |
|
B | ||
| 2725 | chr17 | 7674894 | GAA | G |
c.635_636del
|
p.Phe212SerfsTer3
|
4.5 |
|
B | ||
| 12761 | chr17 | 7674899 | G | A |
c.632C>T
|
p.Thr211Ile
|
- | 3.5 |
|
B | |
| 654 | chr17 | 7674899 | GTGTTTCTGTCATCCAA | G |
c.616_631del
|
p.Asp207PhefsTer35
|
- | 3.5 |
|
B | |
| 2586 | chr17 | 7674903 | TTC | T |
c.626_627del
|
p.Arg209LysfsTer6
|
4.0 |
|
B | ||
| 21825 | chr17 | 7674905 | C | CTGTCATCCAAA |
c.615_625dup
|
p.Arg209IlefsTer42
|
- | 4.0 |
|
B | |
| 21769 | chr17 | 7674906 | T | TG |
c.624dup
|
p.Arg209GlnfsTer7
|
- | 4.0 |
|
B | |
| 23568 | chr17 | 7674907 | GT | G |
c.623del
|
p.Asp208AlafsTer39
|
- | 4.0 |
|
B | |
| 7484 | chr17 | 7674908 | T | C |
c.623A>G
|
p.Asp208Gly
|
3.0 |
|
B | ||
| 33232 | chr17 | 7674913 | CA | C |
c.617del
|
p.Leu206TrpfsTer41
|
- | 4.5 |
|
B | |
| 1310 | chr17 | 7674917 | T | C |
c.614A>G
|
p.Tyr205Cys
|
4.0 |
|
B | ||
| 2772 | chr17 | 7674918 | A | C |
c.613T>G
|
p.Tyr205Asp
|
3.5 |
|
B | ||
| 7491 | chr17 | 7674921 | C | A |
c.610G>T
|
p.Glu204Ter
|
4.5 |
|
B | ||
| 35176 | chr17 | 7674929 | A | T |
c.602T>A
|
p.Leu201Ter
|
- | 4.5 |
|
B | |
| 23906 | chr17 | 7674935 | C | A |
c.596G>T
|
p.Gly199Val
|
3.5 |
|
B | ||
| 12076 | chr17 | 7674936 | C | A |
c.595G>T
|
p.Gly199Ter
|
4.5 |
|
B | ||
| 2085 | chr17 | 7674939 | C | A |
c.592G>T
|
p.Glu198Ter
|
4.0 |
|
B | ||
| 8058 | chr17 | 7674942 | C | G |
c.589G>C
|
p.Val197Leu
|
3.5 |
|
B | ||
| 1145 | chr17 | 7674945 | G | A |
c.586C>T
|
p.Arg196Ter
|
5.0 |
|
B |