Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15533 | chr12 | 124336980 | C | T |
c.5888G>A
|
p.Arg1963His
|
3.0 |
|
B | ||
| 26522 | chr12 | 124340001 | C | A |
c.5687+5G>T
|
-
|
- | 3.0 |
|
B | |
| 20616 | chr12 | 124340031 | C | T |
c.5662G>A
|
p.Glu1888Lys
|
- | 3.0 |
|
B | |
| 1483 | chr12 | 124340173 | C | CCGGCCGCTG |
c.5519_5520insCAGCGGCCG
|
p.Gly1840_Gly1841insSerGlyArg
|
- | 3.0 |
|
B | |
| 29023 | chr12 | 124340410 | G | A |
c.5372C>T
|
p.Thr1791Met
|
3.0 |
|
B | ||
| 20076 | chr12 | 124340702 | CG | C |
c.5237del
|
p.Pro1746ArgfsTer40
|
- | 4.0 |
|
B | |
| 10558 | chr12 | 124341876 | C | A |
c.5135G>T
|
p.Gly1712Val
|
- | 3.0 |
|
B | |
| 10993 | chr12 | 124341916 | C | T |
c.5095G>A
|
p.Ala1699Thr
|
1.0 |
|
B | ||
| 31846 | chr12 | 124343013 | A | G |
c.4928T>C
|
p.Leu1643Pro
|
- | 3.0 |
|
B | |
| 17802 | chr12 | 124343017 | G | A |
c.4924C>T
|
p.Pro1642Ser
|
- | 3.0 |
|
B | |
| 8517 | chr12 | 124343173 | G | A |
c.4768C>T
|
p.Arg1590Cys
|
3.0 |
|
B | ||
| 17958 | chr12 | 124344609 | G | A |
c.4702C>T
|
p.Arg1568Cys
|
3.0 |
|
B | ||
| 2677 | chr12 | 124344753 | C | A |
c.4558G>T
|
p.Gly1520Cys
|
- | 3.0 |
|
B | |
| 1461 | chr12 | 124344773 | C | T |
c.4538G>A
|
p.Gly1513Glu
|
- | 3.0 |
|
B | |
| 6403 | chr12 | 124344813 | C | T |
c.4498G>A
|
p.Glu1500Lys
|
3.0 |
|
B | ||
| 31920 | chr12 | 124344821 | C | G |
c.4490G>C
|
p.Arg1497Pro
|
- | 3.0 |
|
B | |
| 20970 | chr12 | 124344908 | G | A |
c.4403C>T
|
p.Ser1468Phe
|
3.0 |
|
B | ||
| 813 | chr12 | 124346614 | G | T |
c.4309C>A
|
p.Pro1437Thr
|
- | 3.0 |
|
B | |
| 24231 | chr12 | 124346661 | G | A |
c.4262C>T
|
p.Ala1421Val
|
3.0 |
|
B | ||
| 30246 | chr12 | 124346806 | G | A |
c.4117C>T
|
p.Arg1373Trp
|
3.0 |
|
B |