Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 870 | chr12 | 18282446 | A | G |
c.365A>G
|
p.Lys122Arg
|
- | 3.0 |
|
B | |
| 9025 | chr12 | 18282518 | C | T |
c.437C>T
|
p.Pro146Leu
|
1.0 |
|
B | ||
| 16495 | chr12 | 18282611 | C | T |
c.530C>T
|
p.Pro177Leu
|
- | 3.0 |
|
B | |
| 11518 | chr12 | 18282644 | C | T |
c.563C>T
|
p.Pro188Leu
|
3.0 |
|
B | ||
| 23589 | chr12 | 18286865 | C | T |
c.697C>T
|
p.Gln233Ter
|
3.0 |
|
B | ||
| 5078 | chr12 | 18293927 | G | T |
c.946G>T
|
p.Ala316Ser
|
- | 3.0 |
|
B | |
| 4905 | chr12 | 18293933 | A | T |
c.952A>T
|
p.Ile318Phe
|
- | 3.0 |
|
B | |
| 4906 | chr12 | 18293941 | T | A |
c.960T>A
|
p.His320Gln
|
- | 3.0 |
|
B | |
| 30739 | chr12 | 18293942 | T | A |
c.961T>A
|
p.Phe321Ile
|
- | 3.0 |
|
B | |
| 27162 | chr12 | 18294005 | T | C |
c.1024T>C
|
p.Phe342Leu
|
3.0 |
|
B | ||
| 16109 | chr12 | 18313954 | T | G |
c.1035-8T>G
|
-
|
- | 3.0 |
|
B | |
| 3008 | chr12 | 18314004 | A | T |
c.1077A>T
|
p.Lys359Asn
|
3.0 |
|
B | ||
| 3956 | chr12 | 18314060 | G | A |
c.1133G>A
|
p.Arg378Gln
|
3.0 |
|
B | ||
| 25834 | chr12 | 18320973 | C | A |
c.1149C>A
|
p.Asp383Glu
|
- | 3.0 |
|
B | |
| 20905 | chr12 | 18325072 | C | T |
c.1246C>T
|
p.His416Tyr
|
- | 3.0 |
|
B | |
| 4132 | chr12 | 18338426 | G | A |
c.1273G>A
|
p.Glu425Lys
|
- | 3.0 |
|
B | |
| 6693 | chr12 | 18338432 | G | A |
c.1279G>A
|
p.Val427Met
|
3.0 |
|
B | ||
| 30740 | chr12 | 18343326 | G | C |
c.1396-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 32381 | chr12 | 18346640 | G | A |
c.1430-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 16130 | chr12 | 18346677 | C | T |
c.1466C>T
|
p.Ser489Phe
|
3.0 |
|
B |