Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7148 | chr17 | 7675220 | T | A |
c.392A>T
|
p.Asn131Ile
|
3.5 |
|
B | ||
| 24029 | chr17 | 7675222 | GAGGGCA | G |
c.384_389del
|
p.Ala129_Leu130del
|
- | 3.0 |
|
B | |
| 1780 | chr17 | 7675223 | A | C |
c.389T>G
|
p.Leu130Arg
|
- | 3.5 |
|
B | |
| 7889 | chr17 | 7675224 | G | A |
c.388C>T
|
p.Leu130Phe
|
3.5 |
|
B | ||
| 17245 | chr17 | 7675224 | G | C |
c.388C>G
|
p.Leu130Val
|
3.5 |
|
B | ||
| 8868 | chr17 | 7675227 | C | CAGGGGA |
c.379_384dup
|
p.Ser127_Pro128dup
|
- | 3.0 |
|
B | |
| 1782 | chr17 | 7675228 | AG | A |
c.383del
|
p.Pro128LeufsTer42
|
4.0 |
|
B | ||
| 2541 | chr17 | 7675232 | G | A |
c.380C>T
|
p.Ser127Phe
|
4.0 |
|
B | ||
| 7406 | chr17 | 7675233 | A | G |
c.379T>C
|
p.Ser127Pro
|
3.5 |
|
B | ||
| 8846 | chr17 | 7675234 | G | C |
c.378C>G
|
p.Tyr126Ter
|
4.5 |
|
B | ||
| 10059 | chr17 | 7675235 | T | C |
c.377A>G
|
p.Tyr126Cys
|
3.5 |
|
B | ||
| 7100 | chr17 | 7675236 | A | G |
c.376T>C
|
p.Tyr126His
|
3.5 |
|
B | ||
| 7188 | chr17 | 7675237 | C | A |
c.376-1G>T
|
p.?
|
- | 4.5 |
|
B | |
| 1711 | chr17 | 7675237 | C | T |
c.376-1G>A
|
p.?
|
4.5 |
|
B | ||
| 1218 | chr17 | 7675238 | T | C |
c.376-2A>G
|
p.?
|
4.5 |
|
B | ||
| 13226 | chr17 | 7675988 | A | G |
c.375+6T>C
|
-
|
3.0 |
|
B | ||
| 14540 | chr17 | 7675992 | A | C |
c.375+2T>G
|
p.?
|
4.0 |
|
B | ||
| 9168 | chr17 | 7675992 | A | T |
c.375+2T>A
|
p.?
|
4.5 |
|
B | ||
| 1896 | chr17 | 7675992 | AC | A |
c.375+1del
|
p.?
|
- | 4.0 |
|
B | |
| 24738 | chr17 | 7675993 | C | A |
c.375+1G>T
|
p.?
|
4.0 |
|
B |