Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14691 | chr12 | 70596093 | G | A |
c.1214C>T
|
p.Ser405Phe
|
- | 3.0 |
|
B | |
| 26652 | chr12 | 70596151 | A | G |
c.1156T>C
|
p.Tyr386His
|
3.0 |
|
B | ||
| 10100 | chr12 | 70596324 | G | A |
c.983C>T
|
p.Pro328Leu
|
- | 3.0 |
|
B | |
| 26044 | chr12 | 70609329 | G | A |
c.719C>T
|
p.Ala240Val
|
3.0 |
|
B | ||
| 23341 | chr12 | 70622526 | G | A |
c.572C>T
|
p.Ala191Val
|
3.0 |
|
B | ||
| 4417 | chr12 | 70622557 | G | C |
c.541C>G
|
p.Leu181Val
|
- | 3.0 |
|
B | |
| 17339 | chr12 | 70635671 | C | T |
c.451G>A
-
|
p.Ala151Thr
-
|
3.0 |
|
B | ||
| 10857 | chr12 | 70635722 | C | A |
c.400G>T
-
|
p.Asp134Tyr
-
|
- | 3.0 |
|
B | |
| 10858 | chr12 | 70635724 | AT | A |
c.397del
-
|
p.Ile133Ter
-
|
- | 4.0 |
|
B | |
| 10840 | chr12 | 70635812 | C | A |
c.310G>T
-
|
p.Val104Leu
-
|
- | 3.0 |
|
B | |
| 10265 | chr12 | 70635847 | C | T |
c.275G>A
-
|
p.Arg92Gln
-
|
3.0 |
|
B | ||
| 19326 | chr12 | 70635851 | G | T |
c.271C>A
-
|
p.Pro91Thr
-
|
3.0 |
|
B | ||
| 628 | chr12 | 70635883 | C | T |
c.239G>A
-
|
p.Arg80His
-
|
3.0 |
|
B | ||
| 28837 | chr12 | 70635884 | G | C |
c.238C>G
-
|
p.Arg80Gly
-
|
3.0 |
|
B | ||
| 5596 | chr12 | 70635895 | C | T |
c.227G>A
-
|
p.Arg76His
-
|
3.0 |
|
B | ||
| 12022 | chr12 | 70637322 | C | A |
c.55+19G>T
-
|
-
-
|
- | 3.5 |
|
B | |
| 1881 | chr12 | 70637365 | T | A |
c.31A>T
-
|
p.Thr11Ser
-
|
- | 3.0 |
|
B | |
| 29741 | chr12 | 70637368 | G | A |
c.28C>T
-
|
p.Leu10Phe
-
|
- | 3.0 |
|
B | |
| 19670 | chr12 | 70637388 | G | A |
c.8C>T
-
|
p.Ala3Val
-
|
- | 3.0 |
|
B | |
| 4732 | chr12 | 72663174 | A | AACCATT |
c.3189_3190insACCATT
|
p.Leu1063_Gly1064insThrIle
|
- | 3.0 |
|
B |