Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7562 | chr12 | 40305857 | T | G |
c.3850T>G
|
p.Phe1284Val
|
- | 3.0 |
|
B | |
| 20755 | chr12 | 40305899 | C | T |
c.3892C>T
|
p.Pro1298Ser
|
3.0 |
|
B | ||
| 1051 | chr12 | 40305917 | C | T |
c.3910C>T
|
p.Leu1304Phe
|
- | 3.0 |
|
B | |
| 1052 | chr12 | 40305920 | A | T |
c.3913A>T
|
p.Asn1305Tyr
|
- | 3.0 |
|
B | |
| 1668 | chr12 | 40308588 | G | C |
c.4081G>C
|
p.Asp1361His
|
- | 3.0 |
|
B | |
| 1669 | chr12 | 40308651 | G | A |
c.4144G>A
|
p.Asp1382Asn
|
- | 3.0 |
|
B | |
| 1670 | chr12 | 40308662 | G | C |
c.4155G>C
|
p.Lys1385Asn
|
- | 3.0 |
|
B | |
| 34910 | chr12 | 40308682 | T | C |
c.4175T>C
|
p.Val1392Ala
|
- | 3.0 |
|
B | |
| 1671 | chr12 | 40308686 | G | C |
c.4179G>C
|
p.Trp1393Cys
|
- | 3.0 |
|
B | |
| 30244 | chr12 | 40309096 | C | T |
c.4190-10C>T
|
-
|
- | 3.0 |
|
B | |
| 30920 | chr12 | 40309145 | C | T |
c.4229C>T
|
p.Thr1410Met
|
1.5 |
|
B | ||
| 1066 | chr12 | 40309189 | C | T |
c.4273C>T
|
p.Gln1425Ter
|
- | 3.0 |
|
B | |
| 23960 | chr12 | 40310419 | C | T |
c.4318-12C>T
|
-
|
- | 3.0 |
|
B | |
| 1926 | chr12 | 40310461 | G | A |
c.4348G>A
|
p.Val1450Ile
|
3.0 |
|
B | ||
| 24282 | chr12 | 40310542 | C | T |
c.4429C>T
|
p.Arg1477Ter
|
3.0 |
|
B | ||
| 12015 | chr12 | 40310568 | C | A |
c.4455C>A
|
p.Tyr1485Ter
|
- | 3.0 |
|
B | |
| 5807 | chr12 | 40310615 | G | A |
c.4502G>A
|
p.Arg1501Gln
|
3.0 |
|
B | ||
| 23659 | chr12 | 40310666 | G | A |
c.4536+17G>A
|
-
|
3.0 |
|
B | ||
| 24185 | chr12 | 40310669 | G | C |
c.4536+20G>C
|
-
|
- | 3.0 |
|
B | |
| 3149 | chr12 | 40315268 | G | A |
c.4795G>A
|
p.Glu1599Lys
|
- | 3.0 |
|
B |