Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13643 | chr17 | 7675206 | G | C |
c.406C>G
|
p.Gln136Glu
|
4.0 |
|
B | ||
| 29380 | chr17 | 7675207 | G | C |
c.405C>G
|
p.Cys135Trp
|
3.0 |
|
B | ||
| 10030 | chr17 | 7675207 | G | GCAA |
c.402_404dup
|
p.Cys135dup
|
- | 3.0 |
|
B | |
| 8397 | chr17 | 7675208 | C | A |
c.404G>T
|
p.Cys135Phe
|
4.0 |
|
B | ||
| 1509 | chr17 | 7675208 | C | T |
c.404G>A
|
p.Cys135Tyr
|
4.0 |
|
B | ||
| 74 | chr17 | 7675209 | A | C |
c.403T>G
|
p.Cys135Gly
|
3.0 |
|
B | ||
| 28884 | chr17 | 7675209 | A | T |
c.403T>A
|
p.Cys135Ser
|
4.0 |
|
B | ||
| 3204 | chr17 | 7675210 | A | C |
c.402T>G
|
p.Phe134Leu
|
3.5 |
|
B | ||
| 1410 | chr17 | 7675211 | A | C |
c.401T>G
|
p.Phe134Cys
|
3.5 |
|
B | ||
| 16253 | chr17 | 7675211 | A | G |
c.401T>C
|
p.Phe134Ser
|
- | 4.0 |
|
B | |
| 35556 | chr17 | 7675212 | A | C |
c.400T>G
|
p.Phe134Val
|
3.5 |
|
B | ||
| 10624 | chr17 | 7675212 | A | G |
c.400T>C
|
p.Phe134Leu
|
3.5 |
|
B | ||
| 31978 | chr17 | 7675214 | A | C |
c.398T>G
|
p.Met133Arg
|
- | 5.0 |
|
B | |
| 8840 | chr17 | 7675216 | C | A |
c.396G>T
|
p.Lys132Asn
|
4.5 |
|
B | ||
| 12322 | chr17 | 7675216 | C | CT |
c.395dup
|
p.Met133AspfsTer16
|
- | 4.5 |
|
B | |
| 542 | chr17 | 7675216 | C | G |
c.396G>C
|
p.Lys132Asn
|
5.0 |
|
B | ||
| 24067 | chr17 | 7675216 | CTTG | C |
c.393_395del
|
p.Asn131del
|
4.5 |
|
B | ||
| 801 | chr17 | 7675217 | T | A |
c.395A>T
|
p.Lys132Met
|
4.5 |
|
B | ||
| 3809 | chr17 | 7675217 | T | C |
c.395A>G
|
p.Lys132Arg
|
4.0 |
|
B | ||
| 5565 | chr17 | 7675218 | T | C |
c.394A>G
|
p.Lys132Glu
|
4.0 |
|
B |