Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5246 | chr12 | 102419655 | C | T |
c.256G>A
|
p.Ala86Thr
|
- | 3.0 |
|
B | |
| 4092 | chr12 | 102419687 | T | TTGTTGAAATAAAAGCCCC |
c.223_224insGGGGCTTTTATTTCAACA
|
p.Arg69_Asn74dup
|
- | 3.0 |
|
B | |
| 4091 | chr12 | 102475751 | A | G |
c.112T>C
|
p.Cys38Arg
|
- | 3.0 |
|
B | |
| 20969 | chr12 | 102958248 | G | A |
c.4G>A
|
p.Glu2Lys
|
3.0 |
|
B | ||
| 32191 | chr12 | 102958411 | A | G |
c.167A>G
|
p.Gln56Arg
|
- | 3.0 |
|
B | |
| 18014 | chr12 | 102958691 | G | A |
c.447G>A
|
p.Ala149=
|
- | 3.0 |
|
B | |
| 21487 | chr12 | 102958748 | C | T |
c.504C>T
|
p.Arg168=
|
3.0 |
|
B | ||
| 7311 | chr12 | 102958882 | C | G |
c.638C>G
|
p.Ser213Trp
|
- | 3.0 |
|
B | |
| 4736 | chr12 | 103683256 | C | T |
c.2857C>T
|
p.Pro953Ser
|
- | 3.0 |
|
B | |
| 31587 | chr12 | 103931624 | G | T |
c.152+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 32217 | chr12 | 103932947 | G | C |
c.411+5G>C
|
-
|
- | 3.0 |
|
B | |
| 20667 | chr12 | 103934040 | A | G |
c.496A>G
|
p.Ile166Val
|
3.0 |
|
B | ||
| 11340 | chr12 | 103934080 | CTG | C |
c.537_538del
|
p.Glu180SerfsTer10
|
- | 3.0 |
|
B | |
| 7312 | chr12 | 103941419 | G | C |
c.1102G>C
|
p.Asp368His
|
- | 3.0 |
|
B | |
| 30854 | chr12 | 103943793 | C | A |
c.1946C>A
|
p.Ala649Asp
|
- | 3.0 |
|
B | |
| 16801 | chr12 | 103943809 | G | A |
c.1962G>A
|
p.Trp654Ter
|
- | 3.0 |
|
B | |
| 23962 | chr12 | 103953392 | T | G |
c.109-1762A>C
|
-
|
- | 3.0 |
|
B | |
| 4102 | chr12 | 103986978 | C | T |
c.1121C>T
-
|
p.Ala374Val
-
|
3.0 |
|
B | ||
| 25461 | chr12 | 104756959 | C | G |
c.215C>G
|
p.Ser72Ter
|
- | 3.0 |
|
B | |
| 27327 | chr12 | 104757219 | G | A |
c.475G>A
|
p.Ala159Thr
|
3.0 |
|
B |