Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19251 | chr19 | 43544180 | C | G |
c.1676G>C
|
p.Arg559Pro
|
- | 3.0 |
|
B | |
| 11400 | chr19 | 43545926 | G | A |
c.1513C>T
|
p.Pro505Ser
|
- | 3.0 |
|
B | |
| 31529 | chr19 | 43546993 | G | A |
c.1200-16C>T
|
-
|
- | 3.0 |
|
B | |
| 34307 | chr19 | 43552074 | G | A |
c.1025C>T
|
p.Ala342Val
|
- | 3.0 |
|
B | |
| 27106 | chr19 | 43552845 | TG | T |
c.774del
|
p.Ser259AlafsTer37
|
4.0 |
|
B | ||
| 34833 | chr19 | 43552908 | G | T |
c.712C>A
|
p.Pro238Thr
|
- | 3.0 |
|
B | |
| 34493 | chr19 | 43554725 | C | G |
c.335G>C
|
p.Gly112Ala
|
- | 3.0 |
|
B | |
| 16385 | chr19 | 43574937 | G | A |
c.117C>T
-
|
p.Gly39=
-
|
- | 3.0 |
|
B | |
| 19346 | chr19 | 43670092 | A | G |
c.29T>C
|
p.Leu10Pro
|
- | 3.0 |
|
B | |
| 21416 | chr19 | 44756223 | C | A |
c.411-9C>A
|
-
|
3.0 |
|
B | ||
| 15718 | chr19 | 44756234 | C | G |
c.413C>G
|
p.Pro138Arg
|
- | 3.0 |
|
B | |
| 21921 | chr19 | 44756308 | C | T |
c.487C>T
|
p.Arg163Trp
|
3.0 |
|
B | ||
| 18693 | chr19 | 44756348 | T | C |
c.519+8T>C
|
-
|
- | 3.0 |
|
B | |
| 21491 | chr19 | 44757220 | C | T |
c.723C>T
|
p.Asp241=
|
- | 3.0 |
|
B | |
| 31707 | chr19 | 44757401 | G | A |
c.799G>A
|
p.Asp267Asn
|
3.0 |
|
B | ||
| 25084 | chr19 | 44759520 | C | T |
c.1270C>T
|
p.Pro424Ser
|
- | 3.0 |
|
B | |
| 18343 | chr19 | 44759521 | C | T |
c.1271C>T
|
p.Pro424Leu
|
- | 3.0 |
|
B | |
| 6767 | chr19 | 44777923 | G | A |
c.-9G>A
|
-
|
- | 3.0 |
|
B | |
| 9752 | chr19 | 44777963 | A | T |
c.32A>T
|
p.Gln11Leu
|
- | 3.0 |
|
B | |
| 12974 | chr19 | 44778149 | C | T |
c.218C>T
|
p.Pro73Leu
|
- | 3.0 |
|
B |