Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7244 | chr12 | 4372641 | T | C |
c.268A>G
|
p.Ser90Gly
|
3.0 |
|
B | ||
| 17720 | chr12 | 4372703 | G | A |
c.212-6C>T
|
-
|
- | 3.0 |
|
B | |
| 10210 | chr12 | 4379565 | G | A |
c.18C>T
|
p.Leu6=
|
3.0 |
|
B | ||
| 3818 | chr12 | 4434270 | C | T |
c.572G>A
|
p.Arg191Gln
|
3.0 |
|
B | ||
| 23901 | chr12 | 4434300 | A | T |
c.542T>A
|
p.Ile181Asn
|
- | 3.0 |
|
B | |
| 20985 | chr12 | 4434386 | G | T |
c.456C>A
|
p.Ser152Arg
|
- | 3.0 |
|
B | |
| 8940 | chr12 | 4444139 | G | T |
c.444C>A
|
p.Tyr148Ter
|
- | 3.0 |
|
B | |
| 2295 | chr12 | 4444168 | C | T |
c.415G>A
|
p.Val139Ile
|
2.5 |
|
B | ||
| 8388 | chr12 | 4444228 | C | T |
c.355G>A
|
p.Glu119Lys
|
- | 3.0 |
|
B | |
| 1252 | chr12 | 4444241 | C | A |
c.347-5G>T
|
-
|
- | 3.0 |
|
B | |
| 23514 | chr12 | 4444254 | G | T |
c.347-18C>A
|
-
|
- | 3.0 |
|
B | |
| 33376 | chr12 | 4445211 | C | T |
c.346+14G>A
|
-
|
3.0 |
|
B | ||
| 14073 | chr12 | 4445213 | G | A |
c.346+12C>T
|
-
|
- | 3.0 |
|
B | |
| 27325 | chr12 | 4445321 | G | A |
c.250C>T
|
p.Arg84Trp
|
3.0 |
|
B | ||
| 14213 | chr12 | 4445330 | C | T |
c.241G>A
|
p.Gly81Arg
|
- | 3.0 |
|
B | |
| 10988 | chr12 | 4445464 | A | G |
c.107T>C
|
p.Val36Ala
|
1.0 |
|
B | ||
| 3782 | chr12 | 4445495 | C | T |
c.76G>A
|
p.Val26Ile
|
3.0 |
|
B | ||
| 32131 | chr12 | 4445522 | G | A |
c.49C>T
|
p.Arg17Cys
|
3.0 |
|
B | ||
| 20875 | chr12 | 4445527 | G | A |
c.44C>T
|
p.Ala15Val
|
- | 3.0 |
|
B | |
| 25381 | chr12 | 4445530 | C | T |
c.41G>A
|
p.Gly14Glu
|
- | 3.0 |
|
B |