Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14157 | chr11 | 86245103 | T | TG |
c.-119dup
|
-
|
4.0 |
|
B | ||
| 19885 | chr11 | 86245103 | T | TGGG |
c.-121_-119dup
|
-
|
- | 3.0 |
|
B | |
| 27703 | chr11 | 86245119 | G | T |
c.-111G>T
|
-
|
- | 3.0 |
|
B | |
| 31525 | chr11 | 86245139 | C | T |
c.-91C>T
|
-
|
3.0 |
|
B | ||
| 29562 | chr11 | 86245172 | G | C |
c.-58G>C
|
-
|
- | 3.0 |
|
B | |
| 10450 | chr11 | 86245334 | A | AGAC |
c.108_110dup
|
p.Asp36dup
|
- | 3.0 |
|
B | |
| 15198 | chr11 | 86252151 | G | A |
c.271G>A
|
p.Asp91Asn
|
3.0 |
|
B | ||
| 16604 | chr11 | 86252164 | C | T |
c.284C>T
|
p.Pro95Leu
|
- | 3.0 |
|
B | |
| 30992 | chr11 | 86252179 | A | G |
c.299A>G
|
p.Gln100Arg
|
- | 3.0 |
|
B | |
| 13741 | chr11 | 86252218 | T | C |
c.338T>C
|
p.Phe113Ser
|
- | 3.0 |
|
B | |
| 1640 | chr11 | 86264202 | C | T |
c.665C>T
|
p.Thr222Met
|
3.0 |
|
B | ||
| 13151 | chr11 | 86264222 | T | G |
c.685T>G
|
p.Phe229Val
|
- | 3.0 |
|
B | |
| 10209 | chr11 | 86266125 | G | A |
c.769G>A
|
p.Asp257Asn
|
- | 3.0 |
|
B | |
| 34289 | chr11 | 86268446 | C | T |
c.861-10C>T
|
-
|
- | 2.0 |
|
B | |
| 16264 | chr11 | 86268456 | G | T |
c.861G>T
|
p.Arg287Ser
|
- | 3.0 |
|
B | |
| 3128 | chr11 | 86268469 | C | T |
c.874C>T
|
p.Gln292Ter
|
- | 4.0 |
|
B | |
| 23509 | chr11 | 86268533 | G | T |
c.938G>T
|
p.Arg313Leu
|
- | 3.0 |
|
B | |
| 9833 | chr11 | 86268549 | G | T |
c.954G>T
|
p.Leu318Phe
|
- | 3.0 |
|
B | |
| 30458 | chr11 | 86278392 | T | C |
c.1200-7T>C
|
-
|
- | 3.0 |
|
B | |
| 6880 | chr11 | 86278513 | T | A |
c.1314T>A
|
p.Asp438Glu
|
- | 3.0 |
|
B |