Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21182 | chr2 | 233760655 | T | G |
c.868-6379T>G
c.868-6379T>G
c.868-6379T>G
c.368T>G
c.862-6379T>G
c.856-6379T>G
c.856-6379T>G
c.856-6379T>G
c.856-6379T>G
|
-
-
-
p.Leu123Arg
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 32009 | chr2 | 233760762 | A | G |
c.868-6272A>G
c.868-6272A>G
c.868-6272A>G
c.475A>G
c.862-6272A>G
c.856-6272A>G
c.856-6272A>G
c.856-6272A>G
c.856-6272A>G
|
-
-
-
p.Ile159Val
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 21298 | chr2 | 233760909 | C | T |
c.868-6125C>T
c.868-6125C>T
c.868-6125C>T
c.622C>T
c.862-6125C>T
c.856-6125C>T
c.856-6125C>T
c.856-6125C>T
c.856-6125C>T
|
-
-
-
p.Gln208Ter
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 9088 | chr2 | 233761069 | TG | T |
c.868-5964del
c.868-5964del
c.868-5964del
c.783del
c.862-5964del
c.856-5964del
c.856-5964del
c.856-5964del
c.856-5964del
|
-
-
-
p.Lys262ArgfsTer104
-
-
-
-
-
|
- | 3.0 |
|
B | |
| 1588 | chr2 | 233767095 | C | G |
c.929C>G
c.929C>G
c.929C>G
c.926C>G
c.923C>G
c.917C>G
c.917C>G
c.917C>G
c.917C>G
|
p.Ser310Ter
p.Ser310Ter
p.Ser310Ter
p.Ser309Ter
p.Ser308Ter
p.Ser306Ter
p.Ser306Ter
p.Ser306Ter
p.Ser306Ter
|
- | 3.0 |
|
B | |
| 1295 | chr2 | 233767123 | A | T |
c.957A>T
c.957A>T
c.957A>T
c.954A>T
c.951A>T
c.945A>T
c.945A>T
c.945A>T
c.945A>T
|
p.Lys319Asn
p.Lys319Asn
p.Lys319Asn
p.Lys318Asn
p.Lys317Asn
p.Lys315Asn
p.Lys315Asn
p.Lys315Asn
p.Lys315Asn
|
- | 3.0 |
|
B | |
| 10955 | chr2 | 233767876 | C | T |
c.1027C>T
c.1027C>T
c.1027C>T
c.1024C>T
c.1021C>T
c.1015C>T
c.1015C>T
c.1015C>T
c.1015C>T
|
p.Pro343Ser
p.Pro343Ser
p.Pro343Ser
p.Pro342Ser
p.Pro341Ser
p.Pro339Ser
p.Pro339Ser
p.Pro339Ser
p.Pro339Ser
|
3.0 |
|
B | ||
| 23306 | chr2 | 233768294 | C | T |
c.1162C>T
c.1162C>T
c.1162C>T
c.1159C>T
c.1156C>T
c.1150C>T
c.1150C>T
c.1150C>T
c.1150C>T
|
p.Pro388Ser
p.Pro388Ser
p.Pro388Ser
p.Pro387Ser
p.Pro386Ser
p.Pro384Ser
p.Pro384Ser
p.Pro384Ser
p.Pro384Ser
|
3.0 |
|
B | ||
| 1589 | chr2 | 233768428 | C | G |
c.1296C>G
c.1296C>G
c.1296C>G
c.1293C>G
c.1290C>G
c.1284C>G
c.1284C>G
c.1284C>G
c.1284C>G
|
p.Ile432Met
p.Ile432Met
p.Ile432Met
p.Ile431Met
p.Ile430Met
p.Ile428Met
p.Ile428Met
p.Ile428Met
p.Ile428Met
|
- | 3.0 |
|
B | |
| 20709 | chr2 | 233772305 | C | T |
c.1351C>T
c.1351C>T
c.1351C>T
c.1348C>T
c.1345C>T
c.1339C>T
c.1339C>T
c.1339C>T
c.1339C>T
|
p.Arg451Cys
p.Arg451Cys
p.Arg451Cys
p.Arg450Cys
p.Arg449Cys
p.Arg447Cys
p.Arg447Cys
p.Arg447Cys
p.Arg447Cys
|
3.0 |
|
B | ||
| 16270 | chr2 | 233772381 | G | A |
c.1427G>A
c.1427G>A
c.1427G>A
c.1424G>A
c.1421G>A
c.1415G>A
c.1415G>A
c.1415G>A
c.1415G>A
|
p.Arg476His
p.Arg476His
p.Arg476His
p.Arg475His
p.Arg474His
p.Arg472His
p.Arg472His
p.Arg472His
p.Arg472His
|
3.0 |
|
B | ||
| 16582 | chr2 | 233772406 | G | A |
c.1452G>A
c.1452G>A
c.1452G>A
c.1449G>A
c.1446G>A
c.1440G>A
c.1440G>A
c.1440G>A
c.1440G>A
|
p.Trp484Ter
p.Trp484Ter
p.Trp484Ter
p.Trp483Ter
p.Trp482Ter
p.Trp480Ter
p.Trp480Ter
p.Trp480Ter
p.Trp480Ter
|
3.0 |
|
B | ||
| 33848 | chr2 | 233772414 | A | G |
c.1460A>G
c.1460A>G
c.1460A>G
c.1457A>G
c.1454A>G
c.1448A>G
c.1448A>G
c.1448A>G
c.1448A>G
|
p.Tyr487Cys
p.Tyr487Cys
p.Tyr487Cys
p.Tyr486Cys
p.Tyr485Cys
p.Tyr483Cys
p.Tyr483Cys
p.Tyr483Cys
p.Tyr483Cys
|
- | 3.0 |
|
B | |
| 2409 | chr2 | 233772484 | T | G |
c.1530T>G
c.1530T>G
c.1530T>G
c.1527T>G
c.1524T>G
c.1518T>G
c.1518T>G
c.1518T>G
c.1518T>G
|
p.Cys510Trp
p.Cys510Trp
p.Cys510Trp
p.Cys509Trp
p.Cys508Trp
p.Cys506Trp
p.Cys506Trp
p.Cys506Trp
p.Cys506Trp
|
- | 3.0 |
|
B | |
| 4351 | chr2 | 235053697 | A | G |
c.2773A>G
|
p.Lys925Glu
|
- | 3.0 |
|
B | |
| 4642 | chr2 | 237818259 | G | A |
c.1340G>A
|
p.Gly447Glu
|
- | 3.0 |
|
B | |
| 4481 | chr2 | 238130212 | G | A |
c.1498G>A
|
p.Glu500Lys
|
- | 3.0 |
|
B | |
| 3361 | chr2 | 240616505 | G | A |
-
|
-
|
- | 3.0 |
|
B | |
| 3620 | chr2 | 241065496 | G | C |
c.2911G>C
|
p.Ala971Pro
|
- | 3.0 |
|
B | |
| 3621 | chr2 | 241065503 | G | C |
c.2918G>C
|
p.Gly973Ala
|
- | 3.0 |
|
B |