Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5829 | chr9 | 368290 | G | T |
c.1797+155G>T
|
-
|
- | 3.0 |
|
B | |
| 13974 | chr9 | 371516 | A | C |
c.1957A>C
|
p.Ser653Arg
|
- | 3.0 |
|
B | |
| 31913 | chr9 | 377053 | A | T |
c.2282A>T
|
p.Asp761Val
|
- | 3.0 |
|
B | |
| 18943 | chr9 | 377163 | A | AGCTGGAAG |
c.2392_2393insGCTGGAAG
|
p.Lys798SerfsTer43
|
- | 3.0 |
|
B | |
| 1666 | chr9 | 379812 | G | A |
c.2482G>A
|
p.Ala828Thr
|
3.0 |
|
B | ||
| 3245 | chr9 | 379835 | G | T |
c.2505G>T
|
p.Lys835Asn
|
- | 3.0 |
|
B | |
| 29120 | chr9 | 379836 | G | T |
c.2506G>T
|
p.Asp836Tyr
|
- | 3.0 |
|
B | |
| 34943 | chr9 | 379903 | T | C |
c.2573T>C
|
p.Leu858Pro
|
- | 3.0 |
|
B | |
| 19011 | chr9 | 382678 | C | A |
c.2771C>A
|
p.Ser924Tyr
|
- | 3.0 |
|
B | |
| 19012 | chr9 | 390508 | G | A |
c.2912G>A
|
p.Ser971Asn
|
3.0 |
|
B | ||
| 14409 | chr9 | 390582 | G | A |
c.2970+16G>A
|
-
|
2.0 |
|
B | ||
| 2140 | chr9 | 396825 | G | A |
c.3011G>A
|
p.Arg1004Gln
|
3.0 |
|
B | ||
| 6269 | chr9 | 396846 | G | C |
c.3032G>C
|
p.Arg1011Pro
|
3.0 |
|
B | ||
| 1346 | chr9 | 396856 | C | G |
c.3042C>G
|
p.Asp1014Glu
|
- | 3.0 |
|
B | |
| 12953 | chr9 | 396924 | A | C |
c.3110A>C
|
p.Lys1037Thr
|
- | 3.0 |
|
B | |
| 25060 | chr9 | 399197 | G | A |
c.3172G>A
|
p.Asp1058Asn
|
- | 3.0 |
|
B | |
| 20528 | chr9 | 399209 | C | T |
c.3184C>T
|
p.Leu1062Phe
|
- | 3.0 |
|
B | |
| 7115 | chr9 | 399246 | A | G |
c.3221A>G
|
p.His1074Arg
|
3.0 |
|
B | ||
| 3992 | chr9 | 405006 | A | G |
c.3323A>G
|
p.Asn1108Ser
|
3.0 |
|
B | ||
| 20356 | chr9 | 405014 | CT | C |
c.3339del
|
p.Phe1113LeufsTer2
|
3.0 |
|
B |