Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1591 | chr12 | 49048771 | T | G |
c.4021-2A>C
|
p.?
|
- | 4.5 |
|
B | |
| 10234 | chr12 | 49049110 | G | C |
c.4015C>G
|
p.Leu1339Val
|
- | 3.0 |
|
B | |
| 7832 | chr12 | 49049130 | GTTGAC | G |
c.3990_3994del
|
p.Lys1330AsnfsTer6
|
- | 4.0 |
|
B | |
| 18499 | chr12 | 49049229 | G | A |
c.3907-11C>T
|
-
|
- | 3.0 |
|
B | |
| 32968 | chr12 | 49049235 | G | A |
c.3907-17C>T
|
-
|
- | 3.0 |
|
B | |
| 3888 | chr12 | 49049768 | C | G |
c.3820G>C
|
p.Asp1274His
|
- | 3.0 |
|
B | |
| 21657 | chr12 | 49049800 | G | T |
c.3788C>A
|
p.Ser1263Ter
|
- | 4.0 |
|
B | |
| 25537 | chr12 | 49049960 | T | C |
c.3628A>G
|
p.Asn1210Asp
|
- | 3.0 |
|
B | |
| 15154 | chr12 | 49049969 | C | T |
c.3619G>A
|
p.Glu1207Lys
|
3.0 |
|
B | ||
| 20756 | chr12 | 49050212 | C | T |
c.3376G>A
|
p.Asp1126Asn
|
3.0 |
|
B | ||
| 22916 | chr12 | 49050418 | G | A |
c.3170C>T
|
p.Pro1057Leu
|
- | 3.0 |
|
B | |
| 18500 | chr12 | 49050455 | G | A |
c.3133C>T
|
p.Pro1045Ser
|
- | 3.0 |
|
B | |
| 14831 | chr12 | 49050460 | G | A |
c.3128C>T
|
p.Ser1043Phe
|
- | 3.0 |
|
B | |
| 22007 | chr12 | 49050701 | C | T |
c.2887G>A
|
p.Ala963Thr
|
3.0 |
|
B | ||
| 27982 | chr12 | 49050704 | C | CA |
c.2883dup
|
p.Gly962TrpfsTer7
|
- | 4.0 |
|
B | |
| 4907 | chr12 | 49050710 | G | GAGTTAGA |
c.2877_2878insTCTAACT
|
p.Pro960SerfsTer11
|
- | 3.5 |
|
B | |
| 13248 | chr12 | 49051150 | G | A |
c.2533C>T
|
p.Arg845Trp
|
2.0 |
|
B | ||
| 24481 | chr12 | 49051182 | G | A |
c.2501C>T
|
p.Ser834Phe
|
- | 3.0 |
|
B | |
| 21740 | chr12 | 49051279 | C | A |
c.2404G>T
|
p.Glu802Ter
|
- | 4.0 |
|
B | |
| 32688 | chr12 | 49051302 | C | A |
c.2381G>T
|
p.Gly794Val
|
- | 3.0 |
|
B |