Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2473 | chr19 | 3118944 | A | T |
c.626A>T
|
p.Gln209Leu
|
4.5 |
|
B | ||
| 12396 | chr19 | 3118945 | G | T |
c.627G>T
|
p.Gln209His
|
- | 4.5 |
|
B | |
| 25386 | chr19 | 3119027 | C | A |
c.709C>A
|
p.Gln237Lys
|
- | 3.0 |
|
B | |
| 11585 | chr19 | 3119186 | T | G |
c.736-20T>G
|
-
|
1.0 |
|
B | ||
| 32773 | chr19 | 3120980 | C | T |
c.890-9C>T
|
-
|
3.0 |
|
B | ||
| 31175 | chr19 | 4047911 | GT | G |
c.1595del
|
p.Asn532ThrfsTer25
|
- | 3.5 |
|
B | |
| 31527 | chr19 | 4047946 | G | A |
c.1561C>T
|
p.Pro521Ser
|
3.0 |
|
B | ||
| 16480 | chr19 | 4047963 | G | A |
c.1544C>T
|
p.Thr515Ile
|
- | 3.0 |
|
B | |
| 31025 | chr19 | 4048162 | GGGCAAAGGCGGCGCCGCACTGCT | G |
c.1322_1344del
|
p.Gln441ProfsTer91
|
- | 3.5 |
|
B | |
| 31508 | chr19 | 4053958 | G | A |
c.1262+13C>T
|
-
|
- | 3.0 |
|
B | |
| 23022 | chr19 | 4053999 | A | G |
c.1234T>C
|
p.Cys412Arg
|
- | 3.0 |
|
B | |
| 24653 | chr19 | 4054037 | C | T |
c.1196G>A
|
p.Arg399Gln
|
- | 3.0 |
|
B | |
| 35130 | chr19 | 4054047 | T | A |
c.1186A>T
|
p.Lys396Ter
|
- | 3.5 |
|
B | |
| 3277 | chr19 | 4054371 | G | A |
c.862C>T
|
p.Pro288Ser
|
- | 3.0 |
|
B | |
| 23400 | chr19 | 4054470 | C | T |
c.763G>A
|
p.Gly255Ser
|
- | 3.0 |
|
B | |
| 25469 | chr19 | 4054598 | C | T |
c.635G>A
|
p.Gly212Asp
|
- | 3.0 |
|
B | |
| 28929 | chr19 | 4054710 | CG | C |
c.522del
|
p.Ala175ArgfsTer43
|
- | 4.0 |
|
B | |
| 28930 | chr19 | 4054715 | G | A |
c.518C>T
|
p.Pro173Leu
|
- | 3.0 |
|
B | |
| 35695 | chr19 | 4054838 | AG | A |
c.394del
|
p.Leu132TrpfsTer15
|
- | 3.5 |
|
B | |
| 18522 | chr19 | 4054859 | TCGGCGCACACGTGGCTCACGGCGGGGATCTCCAGCAGGCGGG | T |
c.332_373del
|
p.Ala111_Ala124del
|
- | 3.0 |
|
B |