Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22699 | chr12 | 117485665 | G | A |
c.2246C>T
|
p.Ser749Phe
|
- | 3.0 |
|
B | |
| 17143 | chr12 | 117485681 | C | T |
c.2230G>A
|
p.Gly744Arg
|
- | 3.0 |
|
B | |
| 33118 | chr12 | 117524876 | G | A |
c.2195C>T
|
p.Pro732Leu
|
3.0 |
|
B | ||
| 30901 | chr12 | 117524973 | T | C |
c.2098A>G
|
p.Asn700Asp
|
- | 3.0 |
|
B | |
| 13926 | chr12 | 117524976 | C | T |
c.2095G>A
|
p.Asp699Asn
|
- | 3.0 |
|
B | |
| 20634 | chr12 | 117525033 | C | A |
c.2038G>T
|
p.Val680Leu
|
- | 3.0 |
|
B | |
| 15680 | chr12 | 117525093 | C | T |
c.1978G>A
|
p.Asp660Asn
|
- | 3.0 |
|
B | |
| 14828 | chr12 | 117525105 | G | A |
c.1966C>T
|
p.Leu656Phe
|
3.0 |
|
B | ||
| 22580 | chr12 | 117525132 | G | A |
c.1939C>T
|
p.Arg647Cys
|
- | 3.0 |
|
B | |
| 25838 | chr12 | 117525210 | C | G |
c.1861G>C
|
p.Val621Leu
|
- | 3.0 |
|
B | |
| 32767 | chr12 | 117525228 | G | A |
c.1852-9C>T
|
-
|
2.0 |
|
B | ||
| 12994 | chr12 | 117527095 | T | A |
c.1827A>T
|
p.Gln609His
|
- | 3.0 |
|
B | |
| 30646 | chr12 | 117527111 | C | T |
c.1811G>A
|
p.Gly604Glu
|
3.0 |
|
B | ||
| 18805 | chr12 | 117530977 | G | A |
c.1766C>T
|
p.Pro589Leu
|
- | 3.0 |
|
B | |
| 33629 | chr12 | 117530983 | C | T |
c.1760G>A
|
p.Arg587Gln
|
3.0 |
|
B | ||
| 19728 | chr12 | 117539799 | AG | A |
c.1606del
|
p.Leu536SerfsTer61
|
3.0 |
|
B | ||
| 12884 | chr12 | 117539814 | G | A |
c.1592C>T
|
p.Ser531Leu
|
- | 3.0 |
|
B | |
| 15961 | chr12 | 117539830 | A | C |
c.1576T>G
|
p.Ser526Ala
|
- | 3.0 |
|
B | |
| 9982 | chr12 | 117558541 | G | A |
c.1358C>T
|
p.Ala453Val
|
- | 3.0 |
|
B | |
| 17801 | chr12 | 117582277 | G | A |
c.1241+13C>T
|
-
|
3.0 |
|
B |