Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9370 | chr12 | 40320043 | G | A |
c.4883G>A
|
p.Arg1628His
|
2.5 |
|
B | ||
| 30339 | chr12 | 40320061 | T | G |
c.4901T>G
|
p.Phe1634Cys
|
- | 3.0 |
|
B | |
| 27062 | chr12 | 40320062 | T | G |
c.4902T>G
|
p.Phe1634Leu
|
- | 3.0 |
|
B | |
| 24533 | chr12 | 40320067 | C | CA |
c.4915dup
|
p.Arg1639LysfsTer13
|
3.0 |
|
B | ||
| 19717 | chr12 | 40320067 | CA | C |
c.4915del
|
p.Arg1639GlyfsTer15
|
3.0 |
|
B | ||
| 12832 | chr12 | 40320112 | A | G |
c.4952A>G
|
p.Lys1651Arg
|
- | 3.0 |
|
B | |
| 11581 | chr12 | 40320180 | A | T |
c.5015+5A>T
|
-
|
- | 3.0 |
|
B | |
| 16156 | chr12 | 40321075 | A | G |
c.5057A>G
|
p.Glu1686Gly
|
3.0 |
|
B | ||
| 29507 | chr12 | 40321155 | C | T |
c.5137C>T
|
p.Leu1713Phe
|
- | 3.0 |
|
B | |
| 7647 | chr12 | 40322049 | C | T |
c.5185C>T
|
p.Pro1729Ser
|
- | 3.0 |
|
B | |
| 30261 | chr12 | 40322050 | C | A |
c.5186C>A
|
p.Pro1729Gln
|
- | 3.0 |
|
B | |
| 13025 | chr12 | 40322187 | G | A |
c.5317+6G>A
|
-
|
- | 3.0 |
|
B | |
| 32085 | chr12 | 40323175 | A | T |
c.5525A>T
|
p.Asn1842Ile
|
- | 3.0 |
|
B | |
| 6311 | chr12 | 40323237 | G | C |
c.5587G>C
|
p.Asp1863His
|
3.0 |
|
B | ||
| 871 | chr12 | 40323259 | T | G |
c.5609T>G
|
p.Leu1870Trp
|
- | 3.0 |
|
B | |
| 1709 | chr12 | 40328413 | G | T |
c.5710G>T
|
p.Ala1904Ser
|
- | 3.0 |
|
B | |
| 24821 | chr12 | 40335113 | A | T |
c.5904A>T
|
p.Arg1968Ser
|
- | 3.0 |
|
B | |
| 13457 | chr12 | 40340293 | G | A |
c.5949-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 25066 | chr12 | 40340370 | G | A |
c.6025G>A
|
p.Ala2009Thr
|
- | 3.0 |
|
B | |
| 20098 | chr12 | 40340463 | T | A |
c.6109+9T>A
|
-
|
- | 3.0 |
|
B |