Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24637 | chr1 | 43339285 | C | A |
c.406C>A
|
p.Pro136Thr
|
- | 3.0 |
|
B | |
| 24638 | chr1 | 43339287 | CAGTAT | C |
c.409_413del
|
p.Ser137HisfsTer25
|
- | 3.0 |
|
B | |
| 24639 | chr1 | 43339302 | C | CTTG |
c.423_424insTTG
|
p.Ala141_Met142insLeu
|
- | 3.0 |
|
B | |
| 14905 | chr1 | 43339394 | G | A |
c.515G>A
|
p.Gly172Asp
|
- | 3.0 |
|
B | |
| 18479 | chr1 | 43339456 | T | A |
c.577T>A
|
p.Cys193Ser
|
- | 3.0 |
|
B | |
| 11636 | chr1 | 43339466 | CT | C |
c.588del
|
p.Leu197CysfsTer38
|
- | 3.0 |
|
B | |
| 25035 | chr1 | 43339959 | C | T |
c.691-5C>T
|
-
|
- | 3.0 |
|
B | |
| 23786 | chr1 | 43340048 | G | A |
c.775G>A
|
p.Glu259Lys
|
3.0 |
|
B | ||
| 9262 | chr1 | 43340058 | G | A |
c.785G>A
|
p.Gly262Glu
|
- | 3.0 |
|
B | |
| 32564 | chr1 | 43346475 | A | C |
c.1011A>C
|
p.Glu337Asp
|
- | 3.0 |
|
B | |
| 17000 | chr1 | 43346520 | C | A |
c.1056C>A
|
p.Cys352Ter
|
- | 3.0 |
|
B | |
| 28942 | chr1 | 43346606 | C | A |
c.1142C>A
|
p.Ser381Tyr
|
- | 3.0 |
|
B | |
| 4583 | chr1 | 43346806 | C | T |
c.1180C>T
|
p.Pro394Ser
|
- | 3.0 |
|
B | |
| 28735 | chr1 | 43348833 | C | T |
c.1309-10C>T
|
-
|
1.5 |
|
B | ||
| 14906 | chr1 | 43348865 | C | T |
c.1331C>T
|
p.Ala444Val
|
- | 3.0 |
|
B | |
| 10330 | chr1 | 43348867 | C | T |
c.1333C>T
|
p.Arg445Ter
|
- | 3.0 |
|
B | |
| 24239 | chr1 | 43349134 | G | T |
c.1469-129G>T
|
-
|
- | 3.0 |
|
B | |
| 16020 | chr1 | 43349265 | T | G |
c.1471T>G
|
p.Trp491Gly
|
- | 3.0 |
|
B | |
| 16669 | chr1 | 43352316 | C | T |
c.1653+13C>T
|
-
|
3.0 |
|
B | ||
| 35298 | chr1 | 43352639 | G | A |
c.1775G>A
|
p.Arg592Gln
|
3.0 |
|
B |