Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8201 | chr19 | 46919358 | C | A |
c.683C>A
|
p.Thr228Asn
|
- | 3.0 |
|
B | |
| 5608 | chr19 | 46919527 | T | G |
c.852T>G
|
p.Ile284Met
|
- | 3.0 |
|
B | |
| 7575 | chr19 | 46919582 | C | T |
c.907C>T
|
p.Pro303Ser
|
- | 3.0 |
|
B | |
| 30796 | chr19 | 46919643 | A | C |
c.968A>C
|
p.Gln323Pro
|
- | 3.0 |
|
B | |
| 17465 | chr19 | 46919867 | GA | G |
c.1196del
|
p.Asn399ThrfsTer8
|
- | 3.5 |
|
B | |
| 29225 | chr19 | 46919903 | G | A |
c.1228G>A
|
p.Val410Ile
|
3.0 |
|
B | ||
| 7221 | chr19 | 46920122 | C | T |
c.1447C>T
|
p.Gln483Ter
|
- | 4.0 |
|
B | |
| 18818 | chr19 | 46920125 | A | G |
c.1450A>G
|
p.Ile484Val
|
- | 3.0 |
|
B | |
| 28776 | chr19 | 46920269 | G | A |
c.1594G>A
|
p.Ala532Thr
|
3.0 |
|
B | ||
| 31310 | chr19 | 46920524 | C | T |
c.1849C>T
|
p.Arg617Ter
|
- | 3.5 |
|
B | |
| 11230 | chr19 | 46920875 | G | A |
c.2200G>A
|
p.Asp734Asn
|
- | 3.0 |
|
B | |
| 6322 | chr19 | 46920925 | A | T |
c.2250A>T
|
p.Gln750His
|
- | 3.0 |
|
B | |
| 22964 | chr19 | 46920953 | G | A |
c.2278G>A
|
p.Asp760Asn
|
- | 3.0 |
|
B | |
| 34165 | chr19 | 46921071 | TACTTTTTCCTG | T |
c.2397_2407del
|
p.Leu800ProfsTer7
|
- | 4.0 |
|
B | |
| 2439 | chr19 | 46921133 | GT | G |
c.2462del
|
p.Leu821TyrfsTer66
|
- | 3.5 |
|
B | |
| 1556 | chr19 | 46921568 | G | A |
c.2893G>A
|
p.Glu965Lys
|
3.0 |
|
B | ||
| 31872 | chr19 | 46921583 | TC | T |
c.2914del
|
p.Arg972GlyfsTer55
|
- | 4.0 |
|
B | |
| 12080 | chr19 | 46921596 | G | GATCA |
c.2922_2925dup
|
p.Pro976IlefsTer37
|
- | 3.5 |
|
B | |
| 27006 | chr19 | 46921703 | T | C |
c.3028T>C
|
p.Ser1010Pro
|
- | 3.0 |
|
B | |
| 18248 | chr19 | 46922124 | C | T |
c.3449C>T
|
p.Ser1150Phe
|
- | 3.0 |
|
B |