Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27079 | chr19 | 10486768 | C | G |
c.1759G>C
|
p.Asp587His
|
- | 3.0 |
|
B | |
| 27726 | chr19 | 10489235 | ACTTCGCCGGTG | A |
c.1654_1664del
|
p.His552CysfsTer18
|
- | 4.0 |
|
B | |
| 24355 | chr19 | 10489240 | G | A |
c.1660C>T
|
p.Arg554Ter
|
4.0 |
|
B | ||
| 6564 | chr19 | 10489660 | G | A |
c.1519C>T
|
p.Arg507Ter
|
4.0 |
|
B | ||
| 4877 | chr19 | 10489687 | G | A |
c.1492C>T
|
p.Arg498Ter
|
- | 4.0 |
|
B | |
| 10010 | chr19 | 10489719 | G | C |
c.1460C>G
|
p.Ala487Gly
|
- | 3.0 |
|
B | |
| 31302 | chr19 | 10489750 | C | A |
c.1429G>T
|
p.Gly477Cys
|
- | 3.0 |
|
B | |
| 20163 | chr19 | 10489786 | C | T |
c.1393G>A
|
p.Val465Met
|
3.0 |
|
B | ||
| 6972 | chr19 | 10489794 | C | A |
c.1385G>T
|
p.Gly462Val
|
- | 3.0 |
|
B | |
| 21414 | chr19 | 10489799 | C | A |
c.1380G>T
|
p.Arg460Ser
|
- | 3.0 |
|
B | |
| 21282 | chr19 | 10491617 | C | A |
c.1285G>T
|
p.Gly429Cys
|
- | 3.0 |
|
B | |
| 30519 | chr19 | 10491653 | C | A |
c.1249G>T
|
p.Gly417Trp
|
- | 4.0 |
|
B | |
| 6957 | chr19 | 10491658 | C | A |
c.1244G>T
|
p.Arg415Leu
|
- | 3.0 |
|
B | |
| 18247 | chr19 | 10491665 | G | A |
c.1237C>T
|
p.Arg413Cys
|
3.0 |
|
B | ||
| 3935 | chr19 | 10491714 | G | GT |
c.1187dup
|
p.Tyr396Ter
|
- | 4.0 |
|
B | |
| 34785 | chr19 | 10491769 | C | T |
c.1133G>A
|
p.Gly378Asp
|
3.0 |
|
B | ||
| 27231 | chr19 | 10491791 | CCACCA | C |
c.1106_1110del
|
p.Val369GlyfsTer44
|
- | 4.0 |
|
B | |
| 9288 | chr19 | 10491802 | C | T |
c.1100G>A
|
p.Gly367Asp
|
- | 3.0 |
|
B | |
| 14080 | chr19 | 10491896 | G | A |
c.1006C>T
|
p.Arg336Ter
|
- | 4.0 |
|
B | |
| 24356 | chr19 | 10491905 | C | T |
c.997G>A
|
p.Gly333Ser
|
- | 3.5 |
|
B |