Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11332 | chr1 | 147624789 | C | A |
c.4111C>A
|
p.His1371Asn
|
- | 3.0 |
|
B | |
| 21648 | chr1 | 147624806 | C | CT |
c.4129dup
|
p.Ser1377PhefsTer32
|
- | 3.0 |
|
B | |
| 30933 | chr1 | 148870295 | C | A |
c.228+1673C>A
|
-
|
- | 3.0 |
|
B | |
| 30567 | chr1 | 148889775 | C | T |
c.229-9C>T
|
-
|
- | 3.0 |
|
B | |
| 16552 | chr1 | 148915601 | G | A |
c.340-13596G>A
|
-
|
- | 3.0 |
|
B | |
| 18050 | chr1 | 148929194 | C | T |
c.340-3C>T
|
-
|
- | 3.0 |
|
B | |
| 33930 | chr1 | 148929278 | G | A |
c.416+5G>A
|
-
|
- | 3.0 |
|
B | |
| 28448 | chr1 | 148931840 | C | T |
c.457C>T
|
p.Leu153Phe
|
3.0 |
|
B | ||
| 20652 | chr1 | 148931920 | G | T |
c.537G>T
|
p.Gln179His
|
3.0 |
|
B | ||
| 17191 | chr1 | 148937841 | G | A |
c.811G>A
|
p.Glu271Lys
|
3.0 |
|
B | ||
| 17732 | chr1 | 148952762 | C | T |
c.835-7892C>T
|
-
|
1.0 |
|
B | ||
| 31948 | chr1 | 148952973 | G | A |
c.835-7681G>A
|
-
|
3.0 |
|
B | ||
| 26456 | chr1 | 148953084 | G | T |
c.835-7570G>T
|
-
|
- | 3.0 |
|
B | |
| 26688 | chr1 | 148953512 | T | G |
c.835-7142T>G
|
-
|
2.0 |
|
B | ||
| 19942 | chr1 | 148962250 | C | G |
c.1141C>G
|
p.Arg381Gly
|
- | 3.0 |
|
B | |
| 25562 | chr1 | 148962270 | C | G |
c.1161C>G
|
p.Ser387Arg
|
- | 3.0 |
|
B | |
| 18051 | chr1 | 148965535 | C | T |
c.1444C>T
|
p.Gln482Ter
|
- | 3.0 |
|
B | |
| 27238 | chr1 | 148965620 | G | A |
c.1529G>A
|
p.Ser510Asn
|
3.0 |
|
B | ||
| 32171 | chr1 | 148966604 | T | C |
c.1613T>C
|
p.Met538Thr
|
3.0 |
|
B | ||
| 27849 | chr1 | 148966831 | C | T |
c.1666-8C>T
|
-
|
- | 3.0 |
|
B |