Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19923 | chr12 | 132649460 | C | T |
c.3851G>A
|
p.Arg1284Gln
|
2.0 |
|
B | ||
| 31691 | chr12 | 132649493 | C | T |
c.3818G>A
|
p.Arg1273Gln
|
3.0 |
|
B | ||
| 9031 | chr12 | 132649516 | C | T |
c.3796-1G>A
|
p.?
|
3.5 |
|
B | ||
| 10873 | chr12 | 132649659 | C | G |
c.3795+18G>C
|
-
|
- | 3.0 |
|
B | |
| 11053 | chr12 | 132649769 | G | C |
c.3703C>G
|
p.Leu1235Val
|
- | 3.0 |
|
B | |
| 28005 | chr12 | 132649846 | G | A |
c.3626C>T
|
p.Ala1209Val
|
3.0 |
|
B | ||
| 15115 | chr12 | 132649853 | G | A |
c.3619C>T
|
p.Pro1207Ser
|
3.0 |
|
B | ||
| 30290 | chr12 | 132657389 | G | A |
c.3419C>T
|
p.Ala1140Val
|
- | 3.0 |
|
B | |
| 6232 | chr12 | 132657879 | C | G |
c.3367G>C
|
p.Asp1123His
|
3.0 |
|
B | ||
| 15097 | chr12 | 132659279 | TG | T |
c.3275+15del
|
-
|
- | 2.0 |
|
B | |
| 21532 | chr12 | 132659415 | G | A |
c.3155C>T
|
p.Thr1052Met
|
3.0 |
|
B | ||
| 29853 | chr12 | 132659431 | C | T |
c.3139G>A
|
p.Gly1047Arg
|
3.0 |
|
B | ||
| 3375 | chr12 | 132659463 | T | A |
c.3107A>T
|
p.Asn1036Ile
|
- | 3.0 |
|
B | |
| 25508 | chr12 | 132661564 | G | A |
c.2827C>T
|
p.Pro943Ser
|
- | 3.0 |
|
B | |
| 14952 | chr12 | 132661611 | T | C |
c.2780A>G
|
p.Asn927Ser
|
- | 3.0 |
|
B | |
| 21687 | chr12 | 132664087 | T | G |
c.2623A>C
|
p.Asn875His
|
- | 3.0 |
|
B | |
| 25312 | chr12 | 132664409 | T | C |
c.2522A>G
|
p.Asn841Ser
|
2.5 |
|
B | ||
| 30012 | chr12 | 132664413 | C | T |
c.2518G>A
|
p.Ala840Thr
|
- | 3.0 |
|
B | |
| 19215 | chr12 | 132665317 | T | G |
c.2453A>C
|
p.Tyr818Ser
|
- | 3.0 |
|
B | |
| 14953 | chr12 | 132667534 | T | C |
c.2288A>G
|
p.Asp763Gly
|
- | 3.0 |
|
B |