Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2937 | chr19 | 9251064 | CT | C |
c.32del
|
p.Phe11SerfsTer89
|
2.0 |
|
B | ||
| 20426 | chr19 | 9251064 | CTT | C |
c.31_32del
|
p.Phe11ProfsTer59
|
3.0 |
|
B | ||
| 12317 | chr19 | 9828331 | A | C |
c.-7A>C
|
-
|
- | 3.0 |
|
B | |
| 5972 | chr19 | 10135647 | G | A |
c.4773+89C>T
|
-
|
3.0 |
|
B | ||
| 19786 | chr19 | 10135783 | G | T |
c.4726C>A
|
p.Pro1576Thr
|
- | 3.0 |
|
B | |
| 14360 | chr19 | 10137273 | C | T |
c.4301G>A
|
p.Ser1434Asn
|
- | 3.0 |
|
B | |
| 8946 | chr19 | 10137283 | G | A |
c.4294-3C>T
|
-
|
- | 3.0 |
|
B | |
| 27104 | chr19 | 10138493 | G | C |
c.4061C>G
|
p.Ala1354Gly
|
- | 3.0 |
|
B | |
| 33927 | chr19 | 10139684 | C | A |
c.3940G>T
|
p.Val1314Leu
|
- | 3.0 |
|
B | |
| 32405 | chr19 | 10139830 | G | A |
c.3807-13C>T
|
-
|
- | 3.0 |
|
B | |
| 29670 | chr19 | 10140113 | C | T |
c.3739G>A
|
p.Gly1247Ser
|
- | 3.0 |
|
B | |
| 8629 | chr19 | 10140121 | C | G |
c.3731G>C
|
p.Gly1244Ala
|
- | 3.0 |
|
B | |
| 8610 | chr19 | 10140854 | G | C |
c.3450C>G
|
p.Ile1150Met
|
- | 3.0 |
|
B | |
| 9349 | chr19 | 10142034 | G | A |
c.3303C>T
|
p.Phe1101=
|
- | 3.0 |
|
B | |
| 8961 | chr19 | 10143784 | C | T |
c.3098G>A
|
p.Arg1033Gln
|
2.0 |
|
B | ||
| 2515 | chr19 | 10146353 | G | C |
c.2892C>G
|
p.Phe964Leu
|
- | 3.0 |
|
B | |
| 24654 | chr19 | 10149572 | C | T |
c.2467G>A
|
p.Ala823Thr
|
- | 3.0 |
|
B | |
| 4914 | chr19 | 10149878 | A | G |
c.2356T>C
|
p.Ser786Pro
|
- | 3.0 |
|
B | |
| 2096 | chr19 | 10151538 | T | C |
c.2125A>G
|
p.Asn709Asp
|
- | 3.0 |
|
B | |
| 11079 | chr19 | 10151771 | T | G |
c.2096A>C
|
p.Lys699Thr
|
- | 3.0 |
|
B |