Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3218 | chr17 | 7674217 | C | T |
c.746G>A
|
p.Arg249Lys
|
3.5 |
|
B | ||
| 8673 | chr17 | 7674217 | CTCCGGT | C |
c.740_745del
|
p.Asn247_Arg248del
|
- | 3.5 |
|
B | |
| 12985 | chr17 | 7674217 | CTCCGGTTCA | C |
c.737_745del
|
p.Met246_Arg248del
|
- | 4.0 |
|
B | |
| 2339 | chr17 | 7674218 | T | C |
c.745A>G
|
p.Arg249Gly
|
3.5 |
|
B | ||
| 4180 | chr17 | 7674220 | C | A |
c.743G>T
|
p.Arg248Leu
|
4.0 |
|
B | ||
| 779 | chr17 | 7674220 | C | T |
c.743G>A
|
p.Arg248Gln
|
3.5 |
|
B | ||
| 27421 | chr17 | 7674220 | CG | C |
c.742del
|
p.Arg248GlyfsTer97
|
- | 4.0 |
|
B | |
| 682 | chr17 | 7674221 | G | A |
c.742C>T
|
p.Arg248Trp
|
4.0 |
|
B | ||
| 1740 | chr17 | 7674221 | G | C |
c.742C>G
|
p.Arg248Gly
|
4.0 |
|
B | ||
| 3427 | chr17 | 7674223 | T | A |
c.740A>T
|
p.Asn247Ile
|
3.5 |
|
B | ||
| 7464 | chr17 | 7674225 | C | T |
c.738G>A
|
p.Met246Ile
|
3.5 |
|
B | ||
| 1908 | chr17 | 7674226 | A | G |
c.737T>C
|
p.Met246Thr
|
3.5 |
|
B | ||
| 713 | chr17 | 7674227 | T | C |
c.736A>G
|
p.Met246Val
|
3.5 |
|
B | ||
| 2292 | chr17 | 7674229 | C | A |
c.734G>T
|
p.Gly245Val
|
4.0 |
|
B | ||
| 2387 | chr17 | 7674229 | C | T |
c.734G>A
|
p.Gly245Asp
|
4.0 |
|
B | ||
| 24460 | chr17 | 7674230 | C | A |
c.733G>T
|
p.Gly245Cys
|
4.0 |
|
B | ||
| 1625 | chr17 | 7674230 | C | T |
c.733G>A
|
p.Gly245Ser
|
4.0 |
|
B | ||
| 1248 | chr17 | 7674232 | C | A |
c.731G>T
|
p.Gly244Val
|
4.0 |
|
B | ||
| 32771 | chr17 | 7674232 | C | G |
c.731G>C
|
p.Gly244Ala
|
3.5 |
|
B | ||
| 11703 | chr17 | 7674232 | C | T |
c.731G>A
|
p.Gly244Asp
|
4.0 |
|
B |