Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29766 | chr10 | 8073733 | G | A |
c.1051-6G>A
|
-
|
- | 3.0 |
|
B | |
| 32424 | chr10 | 8073736 | T | C |
c.1051-3T>C
|
-
|
- | 3.0 |
|
B | |
| 944 | chr10 | 8073749 | C | T |
c.1061C>T
|
p.Pro354Leu
|
- | 3.0 |
|
B | |
| 6430 | chr10 | 8073750 | CCT | C |
c.1063_1064del
|
p.Leu355AspfsTer16
|
- | 3.5 |
|
B | |
| 8031 | chr10 | 8073760 | A | AAGTCAT |
c.1074_1075insTCATAG
|
p.Lys358_Lys359insSerTer
|
- | 4.0 |
|
B | |
| 7514 | chr10 | 8073806 | C | A |
c.1118C>A
|
p.Ser373Tyr
|
- | 3.0 |
|
B | |
| 9162 | chr10 | 8073910 | T | TC |
c.1223dup
|
p.Pro409AlafsTer99
|
- | 4.0 |
|
B | |
| 22565 | chr10 | 8073910 | TCG | T |
c.1224_1225del
|
p.Pro409LeufsTer98
|
- | 4.0 |
|
B | |
| 367 | chr10 | 8073911 | C | CA |
c.1223_1224insA
|
p.Pro409AlafsTer99
|
- | 4.33 |
|
A | |
| 9217 | chr10 | 8073925 | T | TC |
c.1239dup
|
p.Ser414GlnfsTer94
|
- | 3.5 |
|
B | |
| 14497 | chr10 | 8073940 | A | AC |
c.1254dup
|
p.Thr419HisfsTer89
|
- | 4.0 |
|
B | |
| 7195 | chr10 | 8073953 | C | A |
c.1265C>A
|
p.Pro422Gln
|
- | 3.0 |
|
B | |
| 8998 | chr10 | 8073963 | G | GCCATCCAGCCTGTCCTTTGGACCACACCACCCCTCCAGCATGGTCA |
c.1278_1323dup
|
p.Ala442IlefsTer81
|
- | 4.0 |
|
B | |
| 9241 | chr10 | 8073965 | C | CA |
c.1278dup
|
p.Ser427IlefsTer81
|
- | 3.5 |
|
B | |
| 29050 | chr10 | 8073984 | ACCACACCACC | A |
c.1299_1308del
|
p.His434ProfsTer39
|
- | 4.5 |
|
B | |
| 14430 | chr10 | 8073987 | A | ACACCACCCCTC |
c.1302_1312dup
|
p.Ser438ThrfsTer42
|
- | 4.0 |
|
B | |
| 9102 | chr10 | 8073989 | A | AC |
c.1303dup
|
p.His435ProfsTer73
|
- | 4.0 |
|
B | |
| 6772 | chr10 | 8074007 | T | TC |
c.1320dup
|
p.Thr441HisfsTer67
|
- | 4.0 |
|
B | |
| 5400 | chr10 | 8074009 | ACCGCCATGGGTTAGAGCCCTGCTCGATGCTCACAGGGCCCC | A |
c.1323_*28del
|
p.Met443ArgfsTer51
|
- | 3.5 |
|
B | |
| 4841 | chr10 | 11257818 | T | G |
c.484T>G
|
p.Phe162Val
|
- | 3.0 |
|
B |