Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5563 | chr1 | 16131773 | C | T |
c.2423G>A
|
p.Trp808Ter
|
- | 3.5 |
|
B | |
| 3984 | chr1 | 16131793 | C | T |
c.2403G>A
|
p.Trp801Ter
|
- | 3.0 |
|
B | |
| 10274 | chr1 | 16131798 | C | CCTCT |
c.2397_2398insAGAG
|
p.Val800ArgfsTer34
|
- | 3.0 |
|
B | |
| 1851 | chr1 | 16131840 | G | A |
c.2356C>T
|
p.Pro786Ser
|
- | 3.0 |
|
B | |
| 24344 | chr1 | 16131847 | C | T |
c.2349G>A
|
p.Trp783Ter
|
- | 3.0 |
|
B | |
| 28854 | chr1 | 16132065 | C | T |
c.2324G>A
|
p.Ser775Asn
|
- | 3.0 |
|
B | |
| 5468 | chr1 | 16132105 | G | A |
c.2284C>T
|
p.Arg762Cys
|
- | 3.0 |
|
B | |
| 3207 | chr1 | 16132120 | C | CA |
c.2268dup
|
p.Asp757Ter
|
- | 3.0 |
|
B | |
| 35434 | chr1 | 16132126 | C | A |
c.2263G>T
|
p.Val755Leu
|
3.0 |
|
B | ||
| 14047 | chr1 | 16132176 | C | T |
c.2213G>A
|
p.Arg738His
|
3.0 |
|
B | ||
| 24361 | chr1 | 16132237 | C | G |
c.2152G>C
|
p.Gly718Arg
|
- | 3.0 |
|
B | |
| 4386 | chr1 | 16132246 | G | A |
c.2143C>T
|
p.Gln715Ter
|
- | 3.0 |
|
B | |
| 10708 | chr1 | 16132372 | C | G |
c.2115+6G>C
|
-
|
- | 3.0 |
|
B | |
| 32805 | chr1 | 16133267 | G | T |
c.1966C>A
|
p.Gln656Lys
|
- | 3.0 |
|
B | |
| 5324 | chr1 | 16133273 | C | T |
c.1960G>A
|
p.Glu654Lys
|
- | 3.0 |
|
B | |
| 1981 | chr1 | 16133501 | C | CACAGGATG |
c.1843_1844insCATCCTGT
|
p.Arg615ProfsTer7
|
- | 3.0 |
|
B | |
| 33838 | chr1 | 16133511 | A | AGGATGGAT |
c.1826_1833dup
|
p.Cys612IlefsTer10
|
- | 3.0 |
|
B | |
| 10911 | chr1 | 16133579 | A | AGG |
c.1765_1766insCC
|
p.Val589AlafsTer15
|
- | 3.0 |
|
B | |
| 10922 | chr1 | 16133580 | CGTA | C |
c.1762_1764del
|
p.Tyr588del
|
- | 3.0 |
|
B | |
| 12551 | chr1 | 16133592 | G | GGGGC |
c.1749_1752dup
|
p.Leu585AlafsTer12
|
- | 3.0 |
|
B |