Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6544 | chr19 | 42292873 | C | T |
c.6196+14C>T
-
|
-
-
|
3.0 |
|
B | ||
| 23603 | chr19 | 42293012 | G | GC |
c.6259dup
-
|
p.Gln2087ProfsTer16
-
|
4.0 |
|
B | ||
| 12973 | chr19 | 42293126 | C | T |
c.6367C>T
-
|
p.Arg2123Ter
-
|
4.0 |
|
B | ||
| 9049 | chr19 | 42293144 | G | C |
c.6385G>C
-
|
p.Glu2129Gln
-
|
3.0 |
|
B | ||
| 12976 | chr19 | 42293672 | TCCCAGCC | T |
c.6605_6611del
-
|
p.Pro2202ArgfsTer7
-
|
- | 4.0 |
|
B | |
| 1359 | chr19 | 42293835 | AAGTG | A |
c.6767+2_6767+5del
-
|
p.?
-
|
- | 3.5 |
|
B | |
| 31309 | chr19 | 42293948 | G | C |
c.6781G>C
-
|
p.Glu2261Gln
-
|
- | 3.0 |
|
B | |
| 7000 | chr19 | 42293972 | G | A |
c.6805G>A
-
|
p.Ala2269Thr
-
|
- | 3.0 |
|
B | |
| 7798 | chr19 | 42293985 | A | G |
c.6818A>G
-
|
p.Glu2273Gly
-
|
- | 3.0 |
|
B | |
| 11032 | chr19 | 42294288 | CACCTTTG | C |
c.7042_7048del
-
|
p.Phe2348ValfsTer13
-
|
- | 4.0 |
|
B | |
| 5410 | chr19 | 42294721 | GCTT | G |
c.7177_7179del
-
|
p.Phe2393del
-
|
- | 3.0 |
|
B | |
| 12549 | chr19 | 42294845 | AG | A |
c.7210del
-
|
p.Ala2404ProfsTer15
-
|
- | 4.0 |
|
B | |
| 8878 | chr19 | 42294857 | C | T |
c.7220C>T
-
|
p.Ala2407Val
-
|
- | 3.0 |
|
B | |
| 16855 | chr19 | 42295010 | C | T |
c.7373C>T
-
|
p.Pro2458Leu
-
|
3.0 |
|
B | ||
| 18712 | chr19 | 42295055 | C | T |
c.7418C>T
-
|
p.Ser2473Leu
-
|
3.0 |
|
B | ||
| 2530 | chr19 | 42295057 | G | C |
c.7420G>C
-
|
p.Asp2474His
-
|
- | 3.0 |
|
B | |
| 31708 | chr19 | 42295141 | C | T |
c.7504C>T
-
|
p.Gln2502Ter
-
|
- | 4.0 |
|
B | |
| 4555 | chr19 | 43175274 | G | A |
c.905C>T
|
p.Ser302Phe
|
- | 3.0 |
|
B | |
| 22790 | chr19 | 43543707 | G | C |
c.1713-20C>G
|
-
|
- | 3.0 |
|
B | |
| 34950 | chr19 | 43544136 | A | G |
c.1712+8T>C
|
-
|
- | 3.0 |
|
B |