Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16945 | chr11 | 101128310 | G | A |
c.761C>T
|
p.Ala254Val
|
- | 3.0 |
|
B | |
| 21323 | chr11 | 101128488 | G | T |
c.583C>A
|
p.Leu195Met
|
3.0 |
|
B | ||
| 22996 | chr11 | 101128628 | G | T |
c.443C>A
|
p.Pro148His
|
- | 3.0 |
|
B | |
| 17342 | chr11 | 101128887 | G | A |
c.184C>T
|
p.Arg62Trp
|
3.0 |
|
B | ||
| 22909 | chr11 | 101129039 | G | A |
c.32C>T
|
p.Ala11Val
|
3.0 |
|
B | ||
| 25259 | chr11 | 101129113 | AGG | A |
c.-45_-44del
|
-
|
- | 3.0 |
|
B | |
| 14781 | chr11 | 102110985 | A | G |
c.137A>G
|
p.Gln46Arg
|
3.0 |
|
B | ||
| 12192 | chr11 | 102111158 | C | T |
c.310C>T
|
p.His104Tyr
|
- | 3.0 |
|
B | |
| 7547 | chr11 | 102114214 | C | T |
c.392C>T
|
p.Ser131Phe
|
- | 3.0 |
|
B | |
| 10161 | chr11 | 102114311 | T | A |
c.489T>A
|
p.Ser163=
|
- | 3.0 |
|
B | |
| 18723 | chr11 | 102205959 | C | T |
c.869C>T
|
p.Pro290Leu
|
- | 3.0 |
|
B | |
| 10240 | chr11 | 102206036 | G | C |
c.946G>C
|
p.Glu316Gln
|
- | 3.0 |
|
B | |
| 31287 | chr11 | 102206077 | G | A |
c.984+3G>A
|
-
|
3.0 |
|
B | ||
| 21138 | chr11 | 102209498 | T | C |
c.985-19T>C
|
-
|
- | 3.0 |
|
B | |
| 1966 | chr11 | 102209523 | C | T |
c.991C>T
|
p.Arg331Trp
|
2.0 |
|
B | ||
| 25952 | chr11 | 102223719 | T | G |
c.1130T>G
|
p.Met377Arg
|
- | 3.0 |
|
B | |
| 9481 | chr11 | 102227465 | G | A |
c.1164-4G>A
|
-
|
3.0 |
|
B | ||
| 17023 | chr11 | 102229715 | C | G |
c.1290C>G
|
p.Asn430Lys
|
- | 3.0 |
|
B | |
| 22358 | chr11 | 102229738 | A | G |
c.1313A>G
|
p.Gln438Arg
|
- | 3.0 |
|
B | |
| 833 | chr11 | 102229759 | T | G |
c.1334T>G
|
p.Leu445Arg
|
- | 3.0 |
|
B |