Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1952 | chr19 | 11018979 | G | A |
c.2461G>A
|
p.Glu821Lys
|
- | 3.0 |
|
B | |
| 22112 | chr19 | 11018985 | G | A |
c.2467G>A
|
p.Asp823Asn
|
- | 3.0 |
|
B | |
| 12003 | chr19 | 11019025 | TAGGTCACAGCCACTGAGG | T |
c.2505+3_2505+20del
|
-
|
- | 3.0 |
|
B | |
| 4984 | chr19 | 11019583 | C | T |
c.2506-8C>T
|
-
|
- | 3.0 |
|
B | |
| 21771 | chr19 | 11019592 | G | C |
c.2507G>C
|
p.Gly836Ala
|
- | 3.0 |
|
B | |
| 6039 | chr19 | 11019631 | G | A |
c.2546G>A
|
p.Arg849Gln
|
3.0 |
|
B | ||
| 26218 | chr19 | 11019658 | C | T |
c.2573C>T
|
p.Thr858Met
|
4.0 |
|
B | ||
| 8118 | chr19 | 11021726 | TC | T |
c.2620del
|
p.Arg874ValfsTer5
|
- | 4.0 |
|
B | |
| 7776 | chr19 | 11021729 | G | GT |
c.2623dup
|
p.Trp875LeufsTer70
|
- | 4.0 |
|
B | |
| 5285 | chr19 | 11021752 | G | A |
c.2644G>A
|
p.Glu882Lys
|
- | 3.0 |
|
B | |
| 32961 | chr19 | 11021755 | G | C |
c.2647G>C
|
p.Gly883Arg
|
- | 3.0 |
|
B | |
| 35466 | chr19 | 11021791 | C | T |
c.2683C>T
|
p.Gln895Ter
|
- | 4.5 |
|
B | |
| 630 | chr19 | 11021804 | C | T |
c.2696C>T
|
p.Thr899Met
|
3.0 |
|
B | ||
| 11970 | chr19 | 11021805 | G | GTTCCAACCAGCAAAGC |
c.2697_2698insTTCCAACCAGCAAAGC
|
p.His900PhefsTer50
|
- | 4.0 |
|
B | |
| 8997 | chr19 | 11021825 | G | A |
c.2717G>A
|
p.Arg906His
|
3.0 |
|
B | ||
| 8192 | chr19 | 11021837 | C | T |
c.2729C>T
|
p.Thr910Met
|
3.5 |
|
B | ||
| 796 | chr19 | 11021839 | G | A |
c.2731G>A
|
p.Gly911Ser
|
- | 3.0 |
|
B | |
| 12102 | chr19 | 11021856 | C | G |
c.2748C>G
|
p.Asn916Lys
|
- | 3.0 |
|
B | |
| 5961 | chr19 | 11021972 | G | A |
c.2859+5G>A
|
-
|
- | 3.0 |
|
B | |
| 10318 | chr19 | 11023554 | C | T |
c.2896C>T
|
p.Arg966Trp
|
3.0 |
|
B |