Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13853 | chr11 | 44234223 | A | T |
c.1915A>T
|
p.Thr639Ser
|
- | 3.0 |
|
B | |
| 6807 | chr11 | 44234224 | C | T |
c.1916C>T
|
p.Thr639Met
|
2.5 |
|
B | ||
| 33423 | chr11 | 44236302 | C | T |
c.1945C>T
|
p.Arg649Ter
|
4.0 |
|
B | ||
| 25782 | chr11 | 45885825 | C | T |
c.5C>T
-
|
p.Ala2Val
-
|
- | 3.0 |
|
B | |
| 913 | chr11 | 45898086 | C | G |
c.103C>G
|
p.Leu35Val
|
- | 3.0 |
|
B | |
| 13702 | chr11 | 45898128 | C | T |
c.145C>T
|
p.Leu49Phe
|
3.0 |
|
B | ||
| 1337 | chr11 | 45902028 | C | T |
c.571C>T
-
|
p.Arg191Trp
-
|
3.0 |
|
B | ||
| 14750 | chr11 | 45902418 | G | GC |
c.658dup
-
|
p.Gln220ProfsTer60
-
|
3.0 |
|
B | ||
| 35082 | chr11 | 45902425 | C | A |
c.658C>A
-
|
p.Gln220Lys
-
|
3.0 |
|
B | ||
| 15145 | chr11 | 45902471 | G | C |
c.704G>C
-
|
p.Ser235Thr
-
|
- | 3.0 |
|
B | |
| 1490 | chr11 | 45902513 | G | C |
c.746G>C
-
|
p.Gly249Ala
-
|
- | 3.0 |
|
B | |
| 11258 | chr11 | 45902548 | C | T |
c.781C>T
-
|
p.His261Tyr
-
|
3.0 |
|
B | ||
| 33210 | chr11 | 45902558 | G | A |
c.791G>A
-
|
p.Arg264Gln
-
|
3.0 |
|
B | ||
| 22199 | chr11 | 45902690 | C | T |
c.923C>T
-
|
p.Ser308Leu
-
|
3.0 |
|
B | ||
| 17745 | chr11 | 45902701 | G | A |
c.934G>A
-
|
p.Asp312Asn
-
|
3.0 |
|
B | ||
| 21761 | chr11 | 45902774 | T | G |
c.1007T>G
-
|
p.Phe336Cys
-
|
3.0 |
|
B | ||
| 12186 | chr11 | 45902807 | C | T |
c.1040C>T
-
|
p.Pro347Leu
-
|
- | 3.0 |
|
B | |
| 11104 | chr11 | 45902828 | G | A |
c.1061G>A
-
|
p.Gly354Glu
-
|
- | 3.0 |
|
B | |
| 1313 | chr11 | 45902906 | A | G |
c.1139A>G
-
|
p.Lys380Arg
-
|
3.0 |
|
B | ||
| 14563 | chr11 | 45903176 | G | A |
c.1409G>A
-
|
p.Arg470His
-
|
3.0 |
|
B |