Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 597 | chr11 | 59124903 | CA | C |
c.816del
|
p.Ala273HisfsTer26
|
2.5 |
|
B | ||
| 23288 | chr11 | 60462384 | C | A |
c.10C>A
|
p.Pro4Thr
|
- | 3.0 |
|
B | |
| 19145 | chr11 | 60462469 | G | T |
c.95G>T
|
p.Arg32Met
|
- | 3.0 |
|
B | |
| 32536 | chr11 | 60463065 | G | A |
c.223G>A
|
p.Gly75Arg
|
3.0 |
|
B | ||
| 9632 | chr11 | 60464287 | G | C |
c.280-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 9633 | chr11 | 60464287 | G | T |
c.280-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 35054 | chr11 | 60465990 | A | T |
c.406A>T
|
p.Met136Leu
|
- | 3.0 |
|
B | |
| 31070 | chr11 | 60466000 | T | G |
c.416T>G
|
p.Leu139Arg
|
- | 3.0 |
|
B | |
| 31071 | chr11 | 60466008 | A | G |
c.424A>G
|
p.Lys142Glu
|
- | 3.0 |
|
B | |
| 33500 | chr11 | 60466017 | C | A |
c.433C>A
|
p.His145Asn
|
- | 3.0 |
|
B | |
| 25439 | chr11 | 60466056 | C | G |
c.472C>G
|
p.His158Asp
|
- | 3.0 |
|
B | |
| 17986 | chr11 | 60467002 | T | A |
c.617T>A
|
p.Leu206His
|
- | 3.0 |
|
B | |
| 20609 | chr11 | 60468241 | C | T |
c.676-9C>T
|
-
|
- | 3.0 |
|
B | |
| 27617 | chr11 | 60468247 | TAGAACATAGTTCTCCTGTC | T |
c.676_694del
|
p.Asn226GlnfsTer11
|
- | 3.0 |
|
B | |
| 16428 | chr11 | 60468265 | T | C |
c.691T>C
|
p.Ser231Pro
|
- | 3.0 |
|
B | |
| 22537 | chr11 | 60468332 | C | G |
c.758C>G
|
p.Ser253Cys
|
- | 3.0 |
|
B | |
| 11392 | chr11 | 60468413 | C | T |
c.839C>T
|
p.Pro280Leu
|
- | 3.0 |
|
B | |
| 4515 | chr11 | 60501999 | C | T |
c.431C>T
|
p.Ser144Phe
|
- | 3.0 |
|
B | |
| 4516 | chr11 | 60869640 | C | T |
c.422C>T
|
p.Ser141Phe
|
- | 3.0 |
|
B | |
| 4517 | chr11 | 60922016 | C | T |
-
c.583C>T
|
-
p.Leu195Phe
|
- | 3.0 |
|
B |