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