Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27312 | chr3 | 77607960 | G | A |
c.3305+6G>A
|
-
|
3.0 |
|
B | ||
| 16013 | chr3 | 77607969 | T | C |
c.3305+15T>C
|
-
|
3.0 |
|
B | ||
| 22515 | chr3 | 77617559 | T | A |
c.3352T>A
|
p.Leu1118Ile
|
- | 3.0 |
|
B | |
| 15922 | chr3 | 77617622 | C | T |
c.3415C>T
|
p.Arg1139Ter
|
- | 4.5 |
|
B | |
| 15173 | chr3 | 77617735 | G | C |
c.3528G>C
|
p.Leu1176Phe
|
- | 3.0 |
|
B | |
| 35491 | chr3 | 77622296 | G | C |
c.3636G>C
|
p.Leu1212Phe
|
- | 3.0 |
|
B | |
| 26224 | chr3 | 77622339 | G | A |
c.3679G>A
|
p.Asp1227Asn
|
3.0 |
|
B | ||
| 32649 | chr3 | 77622342 | G | A |
c.3682G>A
|
p.Glu1228Lys
|
3.0 |
|
B | ||
| 28534 | chr3 | 77622397 | G | A |
c.3737G>A
|
p.Gly1246Glu
|
3.0 |
|
B | ||
| 22495 | chr3 | 77622419 | C | G |
c.3759C>G
|
p.Asp1253Glu
|
- | 3.0 |
|
B | |
| 28742 | chr3 | 77634862 | C | T |
c.3773-8C>T
|
-
|
3.0 |
|
B | ||
| 33329 | chr3 | 77634945 | T | C |
c.3848T>C
|
p.Leu1283Pro
|
- | 3.0 |
|
B | |
| 16019 | chr3 | 77642808 | G | C |
c.4084G>C
|
p.Glu1362Gln
|
3.0 |
|
B | ||
| 20212 | chr3 | 77642922 | C | T |
c.4198C>T
|
p.His1400Tyr
|
3.0 |
|
B | ||
| 32058 | chr3 | 77642931 | G | T |
c.4207G>T
|
p.Gly1403Cys
|
- | 3.0 |
|
B | |
| 14037 | chr3 | 77644686 | G | GT |
c.4220-10dup
|
-
|
2.5 |
|
B | ||
| 27218 | chr3 | 77644695 | C | T |
c.4220-9C>T
|
-
|
3.0 |
|
B | ||
| 18704 | chr3 | 77644848 | T | A |
c.4364T>A
|
p.Leu1455His
|
- | 3.0 |
|
B | |
| 27912 | chr3 | 77644880 | C | G |
c.4396C>G
|
p.Gln1466Glu
|
3.0 |
|
B | ||
| 4352 | chr3 | 85886237 | G | A |
c.439G>A
|
p.Glu147Lys
|
- | 3.0 |
|
B |